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### Question: What is (are) Childhood Central Nervous System Embryonal Tumors ? ### Answer:

Key Points - Central nervous system (CNS) embryonal tumors may begin in embryonic (fetal) cells that remain in the brain after birth. - There are different types of CNS embryonal tumors. - Pineoblastomas form in cells of the pineal gland. - Certain genetic conditions increase the risk of childhood CNS embryonal tumors. - Signs and symptoms of childhood CNS embryonal tumors or pineoblastomas depend on the child's age and where the tumor is. - Tests that examine the brain and spinal cord are used to detect (find) childhood CNS embryonal tumors or pineoblastomas. - A biopsy may be done to be sure of the diagnosis of CNS embryonal tumor or pineoblastoma. - Certain factors affect prognosis (chance of recovery) and treatment options. Central nervous system (CNS) embryonal tumors may begin in embryonic (fetal) cells that remain in the brain after birth. Central nervous system (CNS) embryonal tumors form in embryonic cells that remain in the brain after birth. CNS embryonal tumors tend to spread through the cerebrospinal fluid (CSF) to other parts of the brain and spinal cord. The tumors may be malignant (cancer) or benign (not cancer). Most CNS embryonal tumors in children are malignant. Malignant brain tumors are likely to grow quickly and spread into other parts of the brain. When a tumor grows into or presses on an area of the brain, it may stop that part of the brain from working the way it should. Benign brain tumors grow and press on nearby areas of the brain. They rarely spread to other parts of the brain. Both benign and malignant brain tumors can cause signs or symptoms and need treatment. Although cancer is rare in children, brain tumors are the third most common type of childhood cancer, after leukemia and lymphoma. This summary is about the treatment of primary brain tumors (tumors that begin in the brain). The treatment of metastatic brain tumors, which begin in other parts of the body and spread to the brain, is not discussed in this summary. For information about the different types of brain and spinal cord tumors, see the PDQ summary on Childhood Brain and Spinal Cord Tumors Treatment Overview. Brain tumors occur in both children and adults. Treatment for adults may be different from treatment for children. See the PDQ summary on Adult Central Nervous System Tumors Treatment for more information on the treatment of adults. There are different types of CNS embryonal tumors. The different types of CNS embryonal tumors include: - Medulloblastomas Most CNS embryonal tumors are medulloblastomas. Medulloblastomas are fast-growing tumors that form in brain cells in the cerebellum. The cerebellum is at the lower back part of the brain between the cerebrum and the brain stem. The cerebellum controls movement, balance, and posture. Medulloblastomas sometimes spread to the bone, bone marrow, lung, or other parts of the body, but this is rare. - Nonmedulloblastoma embryonal tumors Nonmedulloblastoma embryonal tumors are fast-growing tumors that usually form in brain cells in the cerebrum. The cerebrum is at the top of the head and is the largest part of the brain. The cerebrum controls thinking, learning, problem-solving, emotions, speech, reading, writing, and voluntary movement. Nonmedulloblastoma embryonal tumors may also form in the brain stem or spinal cord. There are four types of nonmedulloblastoma embryonal tumors: - Embryonal tumors with multilayered rosettes Embryonal tumors with multilayered rosettes (ETMR) are rare tumors that form in the brain and spinal cord. ETMR most commonly occur in young children and are fast-growing tumors. - Medulloepitheliomas Medulloepitheliomas are fast-growing tumors that usually form in the brain, spinal cord or nerves just outside the spinal column. They occur most often in infants and young children. - CNS neuroblastomas CNS neuroblastomas are a very rare type of neuroblastoma that form in the nerve tissue of the cerebrum or the layers of tissue that cover the brain and spinal cord. CNS neuroblastomas may be large and spread to other parts of the brain or spinal cord. - CNS ganglioneuroblastomas CNS ganglioneuroblastomas are rare tumors that form in nerve tissue of the brain and spinal cord. They may form in one area and be fast growing or form in more than one area and be slow growing. Childhood CNS atypical teratoid/rhabdoid tumor is also a type of embryonal tumor, but it is treated differently than other childhood CNS embryonal tumors. See the PDQ summary on Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor Treatment for more information. Pineoblastomas form in cells of the pineal gland. The pineal gland is a tiny organ in the center of the brain. The gland makes melatonin, a substance that helps control our sleep cycle. Pineoblastomas form in cells of the pineal gland and are usually malignant. Pineoblastomas are fast-growing tumors with cells that look very different from normal pineal gland cells. Pineoblastomas are not a type of CNS embryonal tumor but treatment for them is a lot like treatment for CNS embryonal tumors. Pineoblastoma is linked with inherited changes in the retinoblastoma (RB1) gene. A child with the inherited form of retinoblastoma (cancer than forms in the tissues of the retina) has an increased risk of pineoblastoma. When retinoblastoma forms at the same time as a tumor in or near the pineal gland, it is called trilateral retinoblastoma. MRI (magnetic resonance imaging) testing in children with retinoblastoma may detect pineoblastoma at an early stage when it can be treated successfully.

### Question: How to diagnose Pancreatic Cancer ? ### Answer:

Tests that examine the pancreas are used to detect (find), diagnose, and stage pancreatic cancer. Pancreatic cancer is usually diagnosed with tests and procedures that make pictures of the pancreas and the area around it. The process used to find out if cancer cells have spread within and around the pancreas is called staging. Tests and procedures to detect, diagnose, and stage pancreatic cancer are usually done at the same time. In order to plan treatment, it is important to know the stage of the disease and whether or not the pancreatic cancer can be removed by surgery. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances, such as bilirubin, released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Tumor marker test : A procedure in which a sample of blood, urine, or tissue is checked to measure the amounts of certain substances, such as CA 19-9, and carcinoembryonic antigen (CEA), made by organs, tissues, or tumor cells in the body. Certain substances are linked to specific types of cancer when found in increased levels in the body. These are called tumor markers. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. A spiral or helical CT scan makes a series of very detailed pictures of areas inside the body using an x-ray machine that scans the body in a spiral path. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. A PET scan and CT scan may be done at the same time. This is called a PET-CT. - Abdominal ultrasound : An ultrasound exam used to make pictures of the inside of the abdomen. The ultrasound transducer is pressed against the skin of the abdomen and directs high-energy sound waves (ultrasound) into the abdomen. The sound waves bounce off the internal tissues and organs and make echoes. The transducer receives the echoes and sends them to a computer, which uses the echoes to make pictures called sonograms. The picture can be printed to be looked at later. - Endoscopic ultrasound (EUS): A procedure in which an endoscope is inserted into the body, usually through the mouth or rectum. An endoscope is a thin, tube-like instrument with a light and a lens for viewing. A probe at the end of the endoscope is used to bounce high-energy sound waves (ultrasound) off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. This procedure is also called endosonography. - Endoscopic retrograde cholangiopancreatography (ERCP): A procedure used to x-ray the ducts (tubes) that carry bile from the liver to the gallbladder and from the gallbladder to the small intestine. Sometimes pancreatic cancer causes these ducts to narrow and block or slow the flow of bile, causing jaundice. An endoscope (a thin, lighted tube) is passed through the mouth, esophagus, and stomach into the first part of the small intestine. A catheter (a smaller tube) is then inserted through the endoscope into the pancreatic ducts. A dye is injected through the catheter into the ducts and an x-ray is taken. If the ducts are blocked by a tumor, a fine tube may be inserted into the duct to unblock it. This tube (or stent) may be left in place to keep the duct open. Tissue samples may also be taken. - Percutaneous transhepatic cholangiography (PTC): A procedure used to x-ray the liver and bile ducts. A thin needle is inserted through the skin below the ribs and into the liver. Dye is injected into the liver or bile ducts and an x-ray is taken. If a blockage is found, a thin, flexible tube called a stent is sometimes left in the liver to drain bile into the small intestine or a collection bag outside the body. This test is done only if ERCP cannot be done. - Laparoscopy : A surgical procedure to look at the organs inside the abdomen to check for signs of disease. Small incisions (cuts) are made in the wall of the abdomen and a laparoscope (a thin, lighted tube) is inserted into one of the incisions. The laparoscope may have an ultrasound probe at the end in order to bounce high-energy sound waves off internal organs, such as the pancreas. This is called laparoscopic ultrasound. Other instruments may be inserted through the same or other incisions to perform procedures such as taking tissue samples from the pancreas or a sample of fluid from the abdomen to check for cancer. - Biopsy: The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. There are several ways to do a biopsy for pancreatic cancer. A fine needle or a core needle may be inserted into the pancreas during an x-ray or ultrasound to remove cells. Tissue may also be removed during a laparoscopy.

### Question: What are the treatments for Bronchopulmonary Dysplasia ? ### Answer:

Preventive Measures If your doctor thinks you're going to give birth too early, he or she may give you injections of a corticosteroid medicine. The medicine can speed up surfactant production in your baby. Surfactant is a liquid that coats the inside of the lungs. It helps keep the lungs open so your infant can breathe in air once he or she is born. Corticosteroids also can help your baby's lungs, brain, and kidneys develop more quickly while he or she is in the womb. Premature babies who have very low birth weights also might be given corticosteroids within the first few days of birth. Doctors sometimes prescribe inhaled nitric oxide shortly after birth for babies who have very low birth weights. This treatment can help improve the babies' lung function. These preventive measures may help reduce infants' risk of respiratory distress syndrome (RDS), which can lead to BPD. Treatment for Respiratory Distress Syndrome The goals of treating infants who have RDS include: Reducing further injury to the lungs Providing nutrition and other support to help the lungs grow and recover Preventing lung infections by giving antibiotics Treatment of RDS usually begins as soon as an infant is born, sometimes in the delivery room. Most infants who have signs of RDS are quickly moved to a neonatal intensive care unit (NICU). They receive around-the-clock treatment from health care professionals who specialize in treating premature infants. Treatments for RDS include surfactant replacement therapy, breathing support with nasal continuous positive airway pressure (NCPAP) or a ventilator, oxygen therapy (oxygen given through nasal prongs, a mask, or a breathing tube), and medicines to treat fluid buildup in the lungs. For more information about RDS treatments, go to the Health Topics Respiratory Distress Syndrome article. Treatment for Bronchopulmonary Dysplasia Treatment in the NICU is designed to limit stress on infants and meet their basic needs of warmth, nutrition, and protection. Once doctors diagnose BPD, some or all of the treatments used for RDS will continue in the NICU. Such treatment usually includes: Using radiant warmers or incubators to keep infants warm and reduce the risk of infection. Ongoing monitoring of blood pressure, heart rate, breathing, and temperature through sensors taped to the babies' bodies. Using sensors on fingers or toes to check the amount of oxygen in the infants' blood. Giving fluids and nutrients through needles or tubes inserted into the infants' veins. This helps prevent malnutrition and promotes growth. Nutrition is vital to the growth and development of the lungs. Later, babies may be given breast milk or infant formula through feeding tubes that are passed through their noses or mouths and into their throats. Checking fluid intake to make sure that fluid doesn't build up in the babies' lungs. As BPD improves, babies are slowly weaned off NCPAP or ventilators until they can breathe on their own. These infants will likely need oxygen therapy for some time. If your infant has moderate or severe BPD, echocardiography might be done every few weeks to months to check his or her pulmonary artery pressure. If your child needs long-term ventilator support, he or she will likely get a tracheostomy (TRA-ke-OS-toe-me). A tracheostomy is a surgically made hole. It goes through the front of the neck and into the trachea (TRA-ke-ah), or windpipe. Your child's doctor will put the breathing tube from the ventilator through the hole. Using a tracheostomy instead of an endotracheal (en-do-TRA-ke-al) tube has some advantages. (An endotracheal tube is a breathing tube inserted through the nose or mouth and into the windpipe.) Long-term use of an endotracheal tube can damage the trachea. This damage may need to be corrected with surgery later. A tracheostomy can allow your baby to interact more with you and the NICU staff, start talking, and develop other skills. While your baby is in the NICU, he or she also may need physical therapy. Physical therapy can help strengthen your child's muscles and clear mucus out of his or her lungs. Infants who have BPD may spend several weeks or months in the hospital. This allows them to get the care they need. Before your baby goes home, learn as much as you can about your child's condition and how it's treated. Your baby may continue to have some breathing symptoms after he or she leaves the hospital. Your child will likely continue on all or some of the treatments that were started at the hospital, including: Medicines, such as bronchodilators, steroids, and diuretics. Oxygen therapy or breathing support from NCPAP or a ventilator. Extra nutrition and calories, which may be given through a feeding tube. Preventive treatment with a medicine called palivizumab for severe respiratory syncytial virus (RSV). This common virus leads to mild, cold-like symptoms in adults and older, healthy children. However, in infantsespecially those in high-risk groupsRSV can lead to severe breathing problems. Your child also should have regular checkups with and timely vaccinations from a pediatrician. This is a doctor who specializes in treating children. If your child needs oxygen therapy or a ventilator at home, a pulmonary specialist might be involved in his or her care. Seek out support from family, friends, and hospital staff. Ask the case manager or social worker at the hospital about what you'll need after your baby leaves the hospital. The doctors and nurses can assist with questions about your infant's care. Also, you may want to ask whether your community has a support group for parents of premature infants.

### Question: What is (are) Gestational Trophoblastic Disease ? ### Answer:

Key Points - Gestational trophoblastic disease (GTD) is a group of rare diseases in which abnormal trophoblast cells grow inside the uterus after conception. - Hydatidiform mole (HM) is the most common type of GTD. - Gestational trophoblastic neoplasia (GTN) is a type of gestational trophoblastic disease (GTD) that is almost always malignant. - Invasive moles - Choriocarcinomas - Placental-site trophoblastic tumors - Epithelioid trophoblastic tumors - Age and a previous molar pregnancy affect the risk of GTD. - Signs of GTD include abnormal vaginal bleeding and a uterus that is larger than normal. - Tests that examine the uterus are used to detect (find) and diagnose gestational trophoblastic disease. - Certain factors affect prognosis (chance of recovery) and treatment options. Gestational trophoblastic disease (GTD) is a group of rare diseases in which abnormal trophoblast cells grow inside the uterus after conception. In gestational trophoblastic disease (GTD), a tumor develops inside the uterus from tissue that forms after conception (the joining of sperm and egg). This tissue is made of trophoblast cells and normally surrounds the fertilized egg in the uterus. Trophoblast cells help connect the fertilized egg to the wall of the uterus and form part of the placenta (the organ that passes nutrients from the mother to the fetus). Sometimes there is a problem with the fertilized egg and trophoblast cells. Instead of a healthy fetus developing, a tumor forms. Until there are signs or symptoms of the tumor, the pregnancy will seem like a normal pregnancy. Most GTD is benign (not cancer) and does not spread, but some types become malignant (cancer) and spread to nearby tissues or distant parts of the body. Gestational trophoblastic disease (GTD) is a general term that includes different types of disease: - Hydatidiform Moles (HM) - Complete HM. - Partial HM. - Gestational Trophoblastic Neoplasia (GTN) - Invasive moles. - Choriocarcinomas. - Placental-site trophoblastic tumors (PSTT; very rare). - Epithelioid trophoblastic tumors (ETT; even more rare). Hydatidiform mole (HM) is the most common type of GTD. HMs are slow-growing tumors that look like sacs of fluid. An HM is also called a molar pregnancy. The cause of hydatidiform moles is not known. HMs may be complete or partial: - A complete HM forms when sperm fertilizes an egg that does not contain the mothers DNA. The egg has DNA from the father and the cells that were meant to become the placenta are abnormal. - A partial HM forms when sperm fertilizes a normal egg and there are two sets of DNA from the father in the fertilized egg. Only part of the fetus forms and the cells that were meant to become the placenta are abnormal. Most hydatidiform moles are benign, but they sometimes become cancer. Having one or more of the following risk factors increases the risk that a hydatidiform mole will become cancer: - A pregnancy before 20 or after 35 years of age. - A very high level of beta human chorionic gonadotropin (-hCG), a hormone made by the body during pregnancy. - A large tumor in the uterus. - An ovarian cyst larger than 6 centimeters. - High blood pressure during pregnancy. - An overactive thyroid gland (extra thyroid hormone is made). - Severe nausea and vomiting during pregnancy. - Trophoblastic cells in the blood, which may block small blood vessels. - Serious blood clotting problems caused by the HM. Gestational trophoblastic neoplasia (GTN) is a type of gestational trophoblastic disease (GTD) that is almost always malignant. Gestational trophoblastic neoplasia (GTN) includes the following: Invasive moles Invasive moles are made up of trophoblast cells that grow into the muscle layer of the uterus. Invasive moles are more likely to grow and spread than a hydatidiform mole. Rarely, a complete or partial HM may become an invasive mole. Sometimes an invasive mole will disappear without treatment. Choriocarcinomas A choriocarcinoma is a malignant tumor that forms from trophoblast cells and spreads to the muscle layer of the uterus and nearby blood vessels. It may also spread to other parts of the body, such as the brain, lungs, liver, kidney, spleen, intestines, pelvis, or vagina. A choriocarcinoma is more likely to form in women who have had any of the following: - Molar pregnancy, especially with a complete hydatidiform mole. - Normal pregnancy. - Tubal pregnancy (the fertilized egg implants in the fallopian tube rather than the uterus). - Miscarriage. Placental-site trophoblastic tumors A placental-site trophoblastic tumor (PSTT) is a rare type of gestational trophoblastic neoplasia that forms where the placenta attaches to the uterus. The tumor forms from trophoblast cells and spreads into the muscle of the uterus and into blood vessels. It may also spread to the lungs, pelvis, or lymph nodes. A PSTT grows very slowly and signs or symptoms may appear months or years after a normal pregnancy. Epithelioid trophoblastic tumors An epithelioid trophoblastic tumor (ETT) is a very rare type of gestational trophoblastic neoplasia that may be benign or malignant. When the tumor is malignant, it may spread to the lungs.

### Question: What are the stages of Retinoblastoma ? ### Answer:

Key Points - After retinoblastoma has been diagnosed, tests are done to find out if cancer cells have spread within the eye or to other parts of the body. - The International Retinoblastoma Staging System (IRSS) may be used for staging retinoblastoma. - Stage 0 - Stage I - Stage II - Stage III - Stage IV - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - Treatment for retinoblastoma depends on whether it is intraocular (within the eye) or extraocular (outside the eye). - Intraocular retinoblastoma - Extraocular retinoblastoma (metastatic) After retinoblastoma has been diagnosed, tests are done to find out if cancer cells have spread within the eye or to other parts of the body. The process used to find out if cancer has spread within the eye or to other parts of the body is called staging. The information gathered from the staging process determines whether retinoblastoma is only in the eye (intraocular) or has spread outside the eye (extraocular). It is important to know the stage in order to plan treatment. The results of the tests used to diagnose cancer are often also used to stage the disease. (See the General Information section.) The following tests and procedures may be used in the staging process: - Bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones and is detected by a scanner that also takes a picture of the body. Areas of bone with cancer show up brighter in the picture because they take up more radioactive material than normal bone cells do. - Bone marrow aspiration and biopsy : The removal of bone marrow and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. A pathologist views the bone marrow under a microscope to look for signs of cancer. A bone marrow aspiration and biopsy is done if the doctor thinks the cancer has spread outside of the eye. - Lumbar puncture : A procedure used to collect cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of the fluid. The sample of CSF is checked under a microscope for signs that the cancer has spread to the brain and spinal cord. This procedure is also called an LP or spinal tap. The International Retinoblastoma Staging System (IRSS) may be used for staging retinoblastoma. There are several staging systems for retinoblastoma. The IRSS stages are based on how much cancer remains after surgery to remove the tumor and whether the cancer has spread. Stage 0 The tumor is in the eye only. The eye has not been removed and the tumor was treated without surgery. Stage I The tumor is in the eye only. The eye has been removed and no cancer cells remain. Stage II The tumor is in the eye only. The eye has been removed and there are cancer cells left that can be seen only with a microscope. Stage III Stage III is divided into stages IIIa and IIIb: - In stage IIIa, cancer has spread from the eye to tissues around the eye socket. - In stage IIIb, cancer has spread from the eye to lymph nodes near the ear or in the neck. Stage IV Stage IV is divided into stages IVa and IVb: - In stage IVa, cancer has spread to the blood but not to the brain or spinal cord. One or more tumors may have spread to other parts of the body such as the bone or liver. - In stage IVb, cancer has spread to the brain or spinal cord. It also may have spread to other parts of the body. There are three ways that cancer spreads in the body. Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. Cancer may spread from where it began to other parts of the body. When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if retinoblastoma spreads to the bone, the cancer cells in the bone are actually retinoblastoma cells. The disease is metastatic retinoblastoma, not bone cancer. Treatment for retinoblastoma depends on whether it is intraocular (within the eye) or extraocular (outside the eye). Intraocular retinoblastoma In intraocular retinoblastoma, cancer is found in one or both eyes and may be in the retina only or may also be in other parts of the eye such as the choroid, ciliary body, or part of the optic nerve. Cancer has not spread to tissues around the outside of the eye or to other parts of the body. Extraocular retinoblastoma (metastatic) In extraocular retinoblastoma, cancer has spread beyond the eye. It may be found in tissues around the eye (orbital retinoblastoma) or it may have spread to the central nervous system (brain and spinal cord) or to other parts of the body such as the liver, bones, bone marrow, or lymph nodes.

### Question: What are the symptoms of Cowden syndrome ? ### Answer:

What are the signs and symptoms of Cowden syndrome? Cowden syndrome is characterized primarily by multiple, noncancerous growths (called hamartomas) on various parts of the body. Approximately 99% of people affected by Cowden syndrome will have benign growths on the skin and/or in the mouth by the third decade of life. A majority of affected people will also develop growths (called hamartomatous polyps) along the inner lining of the gastrointestinal tract. People affected by Cowden syndrome also have an increased risk of developing certain types of cancer. Breast, thyroid and endometrial (the lining of the uterus) cancers are among the most commonly reported tumors. Other associated cancers include colorectal cancer, kidney cancer and melanoma. People with Cowden syndrome often develop cancers at earlier ages (before age 50) than people without a hereditary predisposition to cancer. Other signs and symptoms of Cowden syndrome may include benign diseases of the breast, thyroid, and endometrium; a rare, noncancerous brain tumor called Lhermitte-Duclos disease; an enlarged head (macrocephaly); autism spectrum disorder; intellectual disability; and vascular (the body's network of blood vessels) abnormalities. The Human Phenotype Ontology provides the following list of signs and symptoms for Cowden syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pupil 90% Abnormality of the tongue 90% Aplasia/Hypoplasia of the cerebellum 90% Arteriovenous malformation 90% Cognitive impairment 90% Conjunctival hamartoma 90% Dental malocclusion 90% Epibulbar dermoid 90% Exostoses 90% Foot polydactyly 90% Genu recurvatum 90% Incoordination 90% Increased intracranial pressure 90% Intestinal polyposis 90% Irregular hyperpigmentation 90% Lower limb asymmetry 90% Macrocephaly 90% Melanocytic nevus 90% Migraine 90% Myopia 90% Nausea and vomiting 90% Neoplasm of the breast 90% Neoplasm of the nervous system 90% Neoplasm of the thyroid gland 90% Seizures 90% Uterine neoplasm 90% Verrucae 90% Abnormality of the parathyroid gland 50% Abnormality of the penis 50% Abnormality of the teeth 50% Anemia 50% Cataract 50% Cavernous hemangioma 50% Communicating hydrocephalus 50% Dolichocephaly 50% Furrowed tongue 50% Gastrointestinal hemorrhage 50% Gingival overgrowth 50% Goiter 50% Heterochromia iridis 50% Hypermelanotic macule 50% Hyperostosis 50% Hypertrichosis 50% Mandibular prognathia 50% Meningioma 50% Mucosal telangiectasiae 50% Multiple lipomas 50% Palmoplantar keratoderma 50% Retinal detachment 50% Shagreen patch 50% Venous insufficiency 50% Intellectual disability 12% Intellectual disability, mild 12% Abnormality of neuronal migration 7.5% Abnormality of the palate 7.5% Abnormality of the retinal vasculature 7.5% Adenoma sebaceum 7.5% Anteverted nares 7.5% Autism 7.5% Bone cyst 7.5% Brachydactyly syndrome 7.5% Bronchogenic cyst 7.5% Cafe-au-lait spot 7.5% Gynecomastia 7.5% Hearing impairment 7.5% Hypopigmented skin patches 7.5% Kyphosis 7.5% Melanoma 7.5% Ovarian neoplasm 7.5% Pectus excavatum 7.5% Polycystic ovaries 7.5% Renal neoplasm 7.5% Scoliosis 7.5% Short stature 7.5% Skeletal dysplasia 7.5% Splenomegaly 7.5% Tall stature 7.5% Thymus hyperplasia 7.5% Abnormality of the cardiovascular system - Adult onset - Angioid streaks of the retina - Autosomal dominant inheritance - Breast carcinoma - Colonic diverticula - Fibroadenoma of the breast - Hamartomatous polyposis - High palate - Hydrocele testis - Hyperthyroidism - Hypoplasia of the maxilla - Hypothyroidism - Intention tremor - Narrow mouth - Ovarian cyst - Palmoplantar hyperkeratosis - Progressive macrocephaly - Skin tags - Subcutaneous lipoma - Thyroid adenoma - Thyroiditis - Transitional cell carcinoma of the bladder - Varicocele - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

### Question: How to diagnose Langerhans Cell Histiocytosis ? ### Answer:

The following tests and procedures may be used to detect (find) and diagnose LCH or conditions caused by LCH: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patient's health habits and past illnesses and treatments will also be taken. - Neurological exam : A series of questions and tests to check the brain, spinal cord, and nerve function. The exam checks a person's mental status, coordination, and ability to walk normally, and how well the muscles, senses, and reflexes work. This may also be called a neuro exam or a neurologic exam. - Complete blood count (CBC) with differential : A procedure in which a sample of blood is drawn and checked for the following: - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the blood sample made up of red blood cells. - The number and type of white blood cells. - The number of red blood cells and platelets. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the body by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Liver function test : A blood test to measure the blood levels of certain substances released by the liver. A high or low level of these substances can be a sign of disease in the liver. - BRAF gene testing : A laboratory test in which a sample of blood or tissue is tested for mutations of the BRAF gene. - Urinalysis : A test to check the color of urine and its contents, such as sugar, protein, red blood cells, and white blood cells. - Water deprivation test : A test to check how much urine is made and whether it becomes concentrated when little or no water is given. This test is used to diagnose diabetes insipidus, which may be caused by LCH. - Bone marrow aspiration and biopsy : The removal of bone marrow and a small piece of bone by inserting a hollow needle into the hipbone. A pathologist views the bone marrow and bone under a microscope to look for signs of LCH. The following tests may be done on the tissue that was removed: - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer. - Flow cytometry : A laboratory test that measures the number of cells in a sample, how many cells are live, and the size of the cells. It also shows the shapes of the cells and whether there are tumor markers on the surface of the cells. The cells are stained with a light-sensitive dye, placed in a fluid, and passed in a stream before a laser or other type of light. The measurements are based on how the light-sensitive dye reacts to the light. - Bone scan : A procedure to check if there are rapidly dividing cells in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones with cancer and is detected by a scanner. - X-ray : An x-ray of the organs and bones inside the body. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. Sometimes a skeletal survey is done. This is a procedure to x-ray all of the bones in the body. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. A substance called gadolinium may be injected into a vein. The gadolinium collects around the LCH cells so that they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). - PET scan (positron emission tomography scan): A procedure to find tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later. - Bronchoscopy : A procedure to look inside the trachea and large airways in the lung for abnormal areas. A bronchoscope is inserted through the nose or mouth into the trachea and lungs. A bronchoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue samples, which are checked under a microscope for signs of cancer. - Endoscopy : A procedure to look at organs and tissues inside the body to check for abnormal areas in the gastrointestinal tract or lungs. An endoscope is inserted through an incision (cut) in the skin or opening in the body, such as the mouth. An endoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue or lymph node samples, which are checked under a microscope for signs of disease. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for LCH cells. To diagnose LCH, a biopsy of bone lesions, skin, lymph nodes, or the liver may be done.

### Question: What causes Skin Cancer ? ### Answer:

Scientists have been able to identify the causes and risk factors for skin cancer. A risk factor is anything that increases your chances of getting a disease. DNA Damage One of the main reasons that skin cancer develops is because DNA is damaged. DNA is the master molecule that controls and directs every cell in the body. Damage to DNA is one of the ways that cells lose control of growth and become cancerous. DNA mutations can also be inherited. Exposure to Ultraviolet Radiation Excess exposure to ultraviolet (UV) light can damage the DNA in skin cells and increase a person's risk for both melanoma and non-melanoma skin cancer. UV light is invisible radiation from the sun that can damage DNA. Skin cells are especially susceptible to DNA damage since they are frequently exposed to UV light. There are three types of UV radiation: A, B, and C. All three are dangerous and able to penetrate skin cells. UVA is the most common on earth, and is harmful to the skin. UVB is less common because some of it is absorbed by the ozone layer. It is less harmful than UVA, but can still cause damage. UVC is the least dangerous because although it can cause the most damage to the skin, almost all of the UVC rays are absorbed by the ozone layer. Sources of Ultraviolet Radiation UV radiation comes from the sun, sunlamps, tanning beds, or tanning booths. UV radiation is present even in cold weather or on a cloudy day. A person's risk of skin cancer is related to lifetime exposure to UV radiation. Most skin cancer appears after age 50, but the sun damages the skin from an early age. The body has systems to repair DNA and control some mutations, but not all of them. The risk of cancer increases as we age because sometimes cancer is caused by many mutations accumulating over time. Role of the Immune System The body's immune system is also responsible for recognizing and killing abnormal cells before they become cancerous. As we get older, our immune systems are less able to fight infection and control cell growth. People whose immune system is weakened by certain other cancers, medications, or by HIV are at an increased risk of developing skin cancer. Basal Cell and Squamous Cell Carcinoma Besides risk factors that increase a person's chance of getting any type of skin cancer, there are risk factors that are specific to basal cell carcinoma and squamous cell carcinoma, the non-melanoma skin cancers. These risk factors include - scars or burns on the skin - chronic skin inflammation or skin ulcers - infection with certain human papilloma viruses - exposure to arsenic at work - radiation therapy - diseases that make the skin sensitive to the sun, such as xeroderma pigmentosum, albinism, and basal cell nevus syndrome - medical conditions or drugs that suppress the immune system - personal history of one or more skin cancers - family history of skin cancer - certain diseases of the skin, including actinic keratosis and Bowen's disease. scars or burns on the skin chronic skin inflammation or skin ulcers infection with certain human papilloma viruses exposure to arsenic at work radiation therapy diseases that make the skin sensitive to the sun, such as xeroderma pigmentosum, albinism, and basal cell nevus syndrome medical conditions or drugs that suppress the immune system personal history of one or more skin cancers family history of skin cancer certain diseases of the skin, including actinic keratosis and Bowen's disease. Someone who has one or more of these risk factors has a greater chance of getting skin cancer than someone who does not have these risk factors. However, having these risk factors does not guarantee a person will get skin cancer. Many genetic and environmental factors play a role in causing cancer. Melanoma Melanoma is less common than non-melanoma skin cancers like basal cell carcinoma and squamous cell carcinoma, but it is more serious. The factors that increase a person's chance of getting melanoma are - severe, blistering sunburns earlier in life - unusual moles (normally benign clusters of melanocytes) - large quantity of ordinary moles (more than 50) - white or light-colored (fair) skin, especially with freckles. - blond or red hair - blue or green eyes - being older than 20 years of age. severe, blistering sunburns earlier in life unusual moles (normally benign clusters of melanocytes) large quantity of ordinary moles (more than 50) white or light-colored (fair) skin, especially with freckles. blond or red hair blue or green eyes being older than 20 years of age. Someone who has one or more of these risk factors has a greater chance of getting melanoma than someone who does not have these risk factors. However, having these risk factors does not guarantee a person will get cancer. Many genetic and environmental factors play a role in causing cancer. Reducing Your Risk While exposure to UV radiation is a major risk factor for cancer, skin cancer can occur anywhere on the skin, not just in sun-exposed areas. The best ways to reduce your risk of skin cancer are to - avoid outdoor activities during midday, when the sun's rays are strongest - wear protective clothing such as a wide-brimmed hat, long-sleeved shirt, and pants. avoid outdoor activities during midday, when the sun's rays are strongest wear protective clothing such as a wide-brimmed hat, long-sleeved shirt, and pants. Darker-colored clothing is more protective against the sun. For example, a white t-shirt, particularly if it gets wet, provides little resistance to UV rays. In addition, wearing sunglasses that wrap around the face or have large frames is a good way to shield the delicate skin around the eyes. Wear Sunscreen and Lipscreen When exposed to sunlight, you should always wear sunscreen and lipscreen. If possible, choose sunscreen and lipscreen labeled "broad-spectrum" (to protect against UVA and UVB rays). Your sunscreen should have an SPF, or sun protection rating, of at least 15. The SPF of a sunscreen is a measure of the time it takes to produce a sunburn in a person wearing sunscreen compared to the time it takes to produce a sunburn in a person not wearing sunscreen. This varies from person to person, so be sure to reapply sunscreen every 2-3 hours.

### Question: What are the treatments for Overview of Kidney Disease in Children ? ### Answer:

Treatment for kidney disease in children depends on the cause of the illness. A child may be referred to a pediatric nephrologista doctor who specializes in treating kidney diseases and kidney failure in childrenfor treatment. Children with a kidney disease that is causing high blood pressure may need to take medications to lower their blood pressure. Improving blood pressure can significantly slow the progression of kidney disease. The health care provider may prescribe - angiotensin-converting enzyme (ACE) inhibitors, which help relax blood vessels and make it easier for the heart to pump blood - angiotensin receptor blockers (ARBs), which help relax blood vessels and make it easier for the heart to pump blood - diuretics, medications that increase urine output Many children require two or more medications to control their blood pressure; other types of blood pressure medications may also be needed. As kidney function declines, children may need treatment for anemia and growth failure. Anemia is treated with a hormone called erythropoietin, which stimulates the bone marrow to produce red blood cells. Children with growth failure may need to make dietary changes and take food supplements or growth hormone injections. Children with kidney disease that leads to kidney failure must receive treatment to replace the work the kidneys do. The two types of treatment are dialysis and transplantation. More information is provided in the NIDDK health topic, Treatment Methods for Kidney Failure in Children. Birth Defects Children with renal agenesis or renal dysplasia should be monitored for signs of kidney damage. Treatment is not needed unless damage to the kidney occurs. More information is provided in the NIDDK health topic, Solitary Kidney. Ectopic kidney does not need to be treated unless it causes a blockage in the urinary tract or damage to the kidney. When a blockage is present, surgery may be needed to correct the position of the kidney for better drainage of urine. If extensive kidney damage has occurred, surgery may be needed to remove the kidney. More information is provided in the NIDDK health topic, Ectopic Kidney. Hereditary Diseases Children with PKD tend to have frequent urinary tract infections, which are treated with bacteria-fighting medications called antibiotics. PKD cannot be cured, so children with the condition receive treatment to slow the progression of kidney disease and treat the complications of PKD. More information is provided in the NIDDK health topic, Polycystic Kidney Disease. Alport syndrome also has no cure. Children with the condition receive treatment to slow disease progression and treat complications until the kidneys fail. More information is provided in the NIDDK health topic, Glomerular Diseases. Infection Treatment for hemolytic uremic syndrome includes maintaining normal salt and fluid levels in the body to ease symptoms and prevent further problems. A child may need a transfusion of red blood cells delivered through an intravenous (IV) tube. Some children may need dialysis for a short time to take over the work the kidneys usually do. Most children recover completely with no long-term consequences. More information is provided in the NIDDK health topic, Hemolytic Uremic Syndrome in Children. Children with post-streptococcal glomerulonephritis may be treated with antibiotics to destroy any bacteria that remain in the body and with medications to control swelling and high blood pressure. They may also need dialysis for a short period of time. More information about post-streptococcal glomerulonephritis is provided in the NIDDK health topic, Glomerular Diseases. Nephrotic Syndrome Nephrotic syndrome due to minimal change disease can often be successfully treated with corticosteroids. Corticosteroids decrease swelling and reduce the activity of the immune system. The dosage of the medication is decreased over time. Relapses are common; however, they usually respond to treatment. Corticosteroids are less effective in treating nephrotic syndrome due to focal segmental glomerulosclerosis or membranoproliferative glomerulonephritis. Children with these conditions may be given other immunosuppressive medications in addition to corticosteroids. Immunosuppressive medications prevent the body from making antibodies. More information is provided in the NIDDK health topic, Childhood Nephrotic Syndrome. Systemic Diseases Lupus nephritis is treated with corticosteroids and other immunosuppressive medications. A child with lupus nephritis may also be treated with blood pressure-lowering medications. In many cases, treatment is effective in completely or partially controlling lupus nephritis. More information is provided in the NIDDK health topic, Lupus Nephritis. Diabetic kidney disease usually takes many years to develop. Children with diabetes can prevent or slow the progression of diabetic kidney disease by taking medications to control high blood pressure and maintaining normal blood glucose levels. More information is provided in the NIDDK health topic, Kidney Disease of Diabetes. Trauma The types of trauma described above can be medically treated, though dialysis may be needed for a short time until blood flow and blood pressure return to normal. Urine Blockage and Reflux Treatment for urine blockage depends on the cause and severity of the blockage. In some cases, the blockage goes away without treatment. For children who continue to have urine blockage, surgery may be needed to remove the obstruction and restore urine flow. After surgery, a small tube, called a stent, may be placed in the ureter or urethra to keep it open temporarily while healing occurs. More information is provided in the NIDDK health topic, Urine Blockage in Newborns. Treatment for reflux may include prompt treatment of urinary tract infections and long-term use of antibiotics to prevent infections until reflux goes away on its own. Surgery has also been used in certain cases. More information is provided in the NIDDK health topic, Vesicoureteral Reflux.

### Question: How to diagnose Urinary Tract Infection In Adults ? ### Answer:

To find out whether a person has a UTI, the health care provider will ask about urinary symptoms and then test a sample of urine for the presence of bacteria and white blood cells, which are produced by the body to fight infection. Because bacteria can be found in the urine of healthy individuals, a UTI is diagnosed based both on symptoms and a laboratory test. The person will be asked to give a clean catch urine sample by washing the genital area and collecting a midstream sample of urine in a sterile container. This method of collecting urine helps prevent bacteria around the genital area from getting into the sample and confusing the test results. Usually, the sample is sent to a laboratory, although some health care providers offices are equipped to do the testing. For people with recurring infections and patients in the hospital, the urine may be cultured. The culture is performed by placing part of the urine sample in a tube or dish with a substance that encourages any bacteria present to grow. Once the bacteria have multiplied, which usually takes 1 to 3 days, they can be identified. The health care provider may also order a sensitivity test, which tests the bacteria for sensitivity to different antibiotics to see which medication is best for treating the infection. If a person has recurrent UTIs, the health care provider may order some additional tests to determine if the persons urinary tract is normal. Kidney and bladder ultrasound. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging; anesthesia is not needed. The images can show abnormalities in the kidneys and bladder. However, this test cannot reveal all important urinary abnormalities or measure how well the kidneys work. Voiding cystourethrogram. This test is an x-ray image of the bladder and urethra taken while the bladder is full and during urination, also called voiding. As the person lies on the x-ray table, a health care provider inserts the tip of a thin, flexible tube called a catheter through the urethra into the bladder. The bladder and urethra are filled with a special dye called contrast medium, to make the structures clearly visible on the x-ray images. The x rays are taken from various angles while the bladder is full of contrast medium. The catheter is then removed and x-ray images are taken during urination. The procedure is performed in a health care providers office, outpatient center, or hospital by an x-ray technician. The technician is supervised by a radiologist while the images are taken. The radiologist then interprets the images. Anesthesia is not needed, but light sedation may be used for some people. This test can show abnormalities of the inside of the urethra and bladder. The test can also determine whether the flow of urine is normal when the bladder empties. Computerized tomography (CT) scan. CT scans use a combination of x rays and computer technology to create three-dimensional (3-D) images. A CT scan may include the injection of contrast medium. CT scans require the person to lie on a table that slides into a tunnel-shaped device where the x rays are taken. The procedure is performed in an outpatient center or hospital by an x-ray technician, and the images are interpreted by a radiologist; anesthesia is not needed. CT scans can provide clearer, more detailed images to help the health care provider understand the problem. Magnetic resonance imaging (MRI). MRI machines use radio waves and magnets to produce detailed pictures of the bodys internal organs and soft tissues without using x rays. An MRI may include an injection of contrast medium. With most MRI machines, the person lies on a table that slides into a tunnel-shaped device that may be open ended or closed at one end; some newer machines are designed to allow the person to lie in a more open space. The procedure is performed in an outpatient center or hospital by a specially trained technician, and the images are interpreted by a radiologist; anesthesia is not needed though light sedation may be used for people with a fear of confined spaces. Like CT scans, MRIs can provide clearer, more detailed images. Radionuclide scan. A radionuclide scan is an imaging technique that relies on the detection of small amounts of radiation after injection of radioactive chemicals. Because the dose of the radioactive chemicals is small, the risk of causing damage to cells is low. Special cameras and computers are used to create images of the radioactive chemicals as they pass through the kidneys. Radionuclide scans are performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologist; anesthesia is not needed. Radioactive chemicals injected into the blood can provide information about kidney function. Radioactive chemicals can also be put into the fluids used to fill the bladder and urethra for x ray, MRI, and CT imaging. Urodynamics. Urodynamic testing is any procedure that looks at how well the bladder, sphincters, and urethra are storing and releasing urine. Most of these tests are performed in the office of a urologista doctor who specializes in urinary problemsby a urologist, physician assistant, or nurse practitioner. Some procedures may require light sedation to keep a person calm. Most urodynamic tests focus on the bladders ability to hold urine and empty steadily and completely. Urodynamic tests can also show whether the bladder is having abnormal contractions that cause leakage. A health care provider may order these tests if there is evidence that the person has some kind of nerve damage. Cystoscopy. Cystoscopy is a procedure that uses a tubelike instrument to look inside the urethra and bladder. Cystoscopy is performed by a doctor in a health care providers office, outpatient facility, or hospital with local anesthesia. However, in some cases, sedation and regional or general anesthesia are needed. Cystoscopy may be used to look for swelling, redness, and other signs of infection.

### Question: What causes Causes of Diabetes ? ### Answer:

Type 1 diabetes is caused by a lack of insulin due to the destruction of insulin-producing beta cells in the pancreas. In type 1 diabetesan autoimmune diseasethe bodys immune system attacks and destroys the beta cells. Normally, the immune system protects the body from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. But in autoimmune diseases, the immune system attacks the bodys own cells. In type 1 diabetes, beta cell destruction may take place over several years, but symptoms of the disease usually develop over a short period of time. Type 1 diabetes typically occurs in children and young adults, though it can appear at any age. In the past, type 1 diabetes was called juvenile diabetes or insulin-dependent diabetes mellitus. Latent autoimmune diabetes in adults (LADA) may be a slowly developing kind of type 1 diabetes. Diagnosis usually occurs after age 30. In LADA, as in type 1 diabetes, the bodys immune system destroys the beta cells. At the time of diagnosis, people with LADA may still produce their own insulin, but eventually most will need insulin shots or an insulin pump to control blood glucose levels. Genetic Susceptibility Heredity plays an important part in determining who is likely to develop type 1 diabetes. Genes are passed down from biological parent to child. Genes carry instructions for making proteins that are needed for the bodys cells to function. Many genes, as well as interactions among genes, are thought to influence susceptibility to and protection from type 1 diabetes. The key genes may vary in different population groups. Variations in genes that affect more than 1 percent of a population group are called gene variants. Certain gene variants that carry instructions for making proteins called human leukocyte antigens (HLAs) on white blood cells are linked to the risk of developing type 1 diabetes. The proteins produced by HLA genes help determine whether the immune system recognizes a cell as part of the body or as foreign material. Some combinations of HLA gene variants predict that a person will be at higher risk for type 1 diabetes, while other combinations are protective or have no effect on risk. While HLA genes are the major risk genes for type 1 diabetes, many additional risk genes or gene regions have been found. Not only can these genes help identify people at risk for type 1 diabetes, but they also provide important clues to help scientists better understand how the disease develops and identify potential targets for therapy and prevention. Genetic testing can show what types of HLA genes a person carries and can reveal other genes linked to diabetes. However, most genetic testing is done in a research setting and is not yet available to individuals. Scientists are studying how the results of genetic testing can be used to improve type 1 diabetes prevention or treatment. Autoimmune Destruction of Beta Cells In type 1 diabetes, white blood cells called T cells attack and destroy beta cells. The process begins well before diabetes symptoms appear and continues after diagnosis. Often, type 1 diabetes is not diagnosed until most beta cells have already been destroyed. At this point, a person needs daily insulin treatment to survive. Finding ways to modify or stop this autoimmune process and preserve beta cell function is a major focus of current scientific research. Recent research suggests insulin itself may be a key trigger of the immune attack on beta cells. The immune systems of people who are susceptible to developing type 1 diabetes respond to insulin as if it were a foreign substance, or antigen. To combat antigens, the body makes proteins called antibodies. Antibodies to insulin and other proteins produced by beta cells are found in people with type 1 diabetes. Researchers test for these antibodies to help identify people at increased risk of developing the disease. Testing the types and levels of antibodies in the blood can help determine whether a person has type 1 diabetes, LADA, or another type of diabetes. Environmental Factors Environmental factors, such as foods, viruses, and toxins, may play a role in the development of type 1 diabetes, but the exact nature of their role has not been determined. Some theories suggest that environmental factors trigger the autoimmune destruction of beta cells in people with a genetic susceptibility to diabetes. Other theories suggest that environmental factors play an ongoing role in diabetes, even after diagnosis. Viruses and infections. A virus cannot cause diabetes on its own, but people are sometimes diagnosed with type 1 diabetes during or after a viral infection, suggesting a link between the two. Also, the onset of type 1 diabetes occurs more frequently during the winter when viral infections are more common. Viruses possibly associated with type 1 diabetes include coxsackievirus B, cytomegalovirus, adenovirus, rubella, and mumps. Scientists have described several ways these viruses may damage or destroy beta cells or possibly trigger an autoimmune response in susceptible people. For example, anti-islet antibodies have been found in patients with congenital rubella syndrome, and cytomegalovirus has been associated with significant beta cell damage and acute pancreatitisinflammation of the pancreas. Scientists are trying to identify a virus that can cause type 1 diabetes so that a vaccine might be developed to prevent the disease. Infant feeding practices. Some studies have suggested that dietary factors may raise or lower the risk of developing type 1 diabetes. For example, breastfed infants and infants receiving vitamin D supplements may have a reduced risk of developing type 1 diabetes, while early exposure to cows milk and cereal proteins may increase risk. More research is needed to clarify how infant nutrition affects the risk for type 1 diabetes. Read more in the Centers for Disease Control and Preventions (CDCs) publication National Diabetes Statistics Report, 2014 at www.cdc.gov for information about research studies related to type 1 diabetes.

### Question: What causes Causes of Diabetes ? ### Answer:

Type 1 diabetes is caused by a lack of insulin due to the destruction of insulin-producing beta cells in the pancreas. In type 1 diabetesan autoimmune diseasethe bodys immune system attacks and destroys the beta cells. Normally, the immune system protects the body from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. But in autoimmune diseases, the immune system attacks the bodys own cells. In type 1 diabetes, beta cell destruction may take place over several years, but symptoms of the disease usually develop over a short period of time. Type 1 diabetes typically occurs in children and young adults, though it can appear at any age. In the past, type 1 diabetes was called juvenile diabetes or insulin-dependent diabetes mellitus. Latent autoimmune diabetes in adults (LADA) may be a slowly developing kind of type 1 diabetes. Diagnosis usually occurs after age 30. In LADA, as in type 1 diabetes, the bodys immune system destroys the beta cells. At the time of diagnosis, people with LADA may still produce their own insulin, but eventually most will need insulin shots or an insulin pump to control blood glucose levels. Genetic Susceptibility Heredity plays an important part in determining who is likely to develop type 1 diabetes. Genes are passed down from biological parent to child. Genes carry instructions for making proteins that are needed for the bodys cells to function. Many genes, as well as interactions among genes, are thought to influence susceptibility to and protection from type 1 diabetes. The key genes may vary in different population groups. Variations in genes that affect more than 1 percent of a population group are called gene variants. Certain gene variants that carry instructions for making proteins called human leukocyte antigens (HLAs) on white blood cells are linked to the risk of developing type 1 diabetes. The proteins produced by HLA genes help determine whether the immune system recognizes a cell as part of the body or as foreign material. Some combinations of HLA gene variants predict that a person will be at higher risk for type 1 diabetes, while other combinations are protective or have no effect on risk. While HLA genes are the major risk genes for type 1 diabetes, many additional risk genes or gene regions have been found. Not only can these genes help identify people at risk for type 1 diabetes, but they also provide important clues to help scientists better understand how the disease develops and identify potential targets for therapy and prevention. Genetic testing can show what types of HLA genes a person carries and can reveal other genes linked to diabetes. However, most genetic testing is done in a research setting and is not yet available to individuals. Scientists are studying how the results of genetic testing can be used to improve type 1 diabetes prevention or treatment. Autoimmune Destruction of Beta Cells In type 1 diabetes, white blood cells called T cells attack and destroy beta cells. The process begins well before diabetes symptoms appear and continues after diagnosis. Often, type 1 diabetes is not diagnosed until most beta cells have already been destroyed. At this point, a person needs daily insulin treatment to survive. Finding ways to modify or stop this autoimmune process and preserve beta cell function is a major focus of current scientific research. Recent research suggests insulin itself may be a key trigger of the immune attack on beta cells. The immune systems of people who are susceptible to developing type 1 diabetes respond to insulin as if it were a foreign substance, or antigen. To combat antigens, the body makes proteins called antibodies. Antibodies to insulin and other proteins produced by beta cells are found in people with type 1 diabetes. Researchers test for these antibodies to help identify people at increased risk of developing the disease. Testing the types and levels of antibodies in the blood can help determine whether a person has type 1 diabetes, LADA, or another type of diabetes. Environmental Factors Environmental factors, such as foods, viruses, and toxins, may play a role in the development of type 1 diabetes, but the exact nature of their role has not been determined. Some theories suggest that environmental factors trigger the autoimmune destruction of beta cells in people with a genetic susceptibility to diabetes. Other theories suggest that environmental factors play an ongoing role in diabetes, even after diagnosis. Viruses and infections. A virus cannot cause diabetes on its own, but people are sometimes diagnosed with type 1 diabetes during or after a viral infection, suggesting a link between the two. Also, the onset of type 1 diabetes occurs more frequently during the winter when viral infections are more common. Viruses possibly associated with type 1 diabetes include coxsackievirus B, cytomegalovirus, adenovirus, rubella, and mumps. Scientists have described several ways these viruses may damage or destroy beta cells or possibly trigger an autoimmune response in susceptible people. For example, anti-islet antibodies have been found in patients with congenital rubella syndrome, and cytomegalovirus has been associated with significant beta cell damage and acute pancreatitisinflammation of the pancreas. Scientists are trying to identify a virus that can cause type 1 diabetes so that a vaccine might be developed to prevent the disease. Infant feeding practices. Some studies have suggested that dietary factors may raise or lower the risk of developing type 1 diabetes. For example, breastfed infants and infants receiving vitamin D supplements may have a reduced risk of developing type 1 diabetes, while early exposure to cows milk and cereal proteins may increase risk. More research is needed to clarify how infant nutrition affects the risk for type 1 diabetes. Read more in the Centers for Disease Control and Preventions (CDCs) publication National Diabetes Statistics Report, 2014 at www.cdc.gov for information about research studies related to type 1 diabetes.

### Question: What causes Causes of Diabetes ? ### Answer:

Type 1 diabetes is caused by a lack of insulin due to the destruction of insulin-producing beta cells in the pancreas. In type 1 diabetesan autoimmune diseasethe bodys immune system attacks and destroys the beta cells. Normally, the immune system protects the body from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. But in autoimmune diseases, the immune system attacks the bodys own cells. In type 1 diabetes, beta cell destruction may take place over several years, but symptoms of the disease usually develop over a short period of time. Type 1 diabetes typically occurs in children and young adults, though it can appear at any age. In the past, type 1 diabetes was called juvenile diabetes or insulin-dependent diabetes mellitus. Latent autoimmune diabetes in adults (LADA) may be a slowly developing kind of type 1 diabetes. Diagnosis usually occurs after age 30. In LADA, as in type 1 diabetes, the bodys immune system destroys the beta cells. At the time of diagnosis, people with LADA may still produce their own insulin, but eventually most will need insulin shots or an insulin pump to control blood glucose levels. Genetic Susceptibility Heredity plays an important part in determining who is likely to develop type 1 diabetes. Genes are passed down from biological parent to child. Genes carry instructions for making proteins that are needed for the bodys cells to function. Many genes, as well as interactions among genes, are thought to influence susceptibility to and protection from type 1 diabetes. The key genes may vary in different population groups. Variations in genes that affect more than 1 percent of a population group are called gene variants. Certain gene variants that carry instructions for making proteins called human leukocyte antigens (HLAs) on white blood cells are linked to the risk of developing type 1 diabetes. The proteins produced by HLA genes help determine whether the immune system recognizes a cell as part of the body or as foreign material. Some combinations of HLA gene variants predict that a person will be at higher risk for type 1 diabetes, while other combinations are protective or have no effect on risk. While HLA genes are the major risk genes for type 1 diabetes, many additional risk genes or gene regions have been found. Not only can these genes help identify people at risk for type 1 diabetes, but they also provide important clues to help scientists better understand how the disease develops and identify potential targets for therapy and prevention. Genetic testing can show what types of HLA genes a person carries and can reveal other genes linked to diabetes. However, most genetic testing is done in a research setting and is not yet available to individuals. Scientists are studying how the results of genetic testing can be used to improve type 1 diabetes prevention or treatment. Autoimmune Destruction of Beta Cells In type 1 diabetes, white blood cells called T cells attack and destroy beta cells. The process begins well before diabetes symptoms appear and continues after diagnosis. Often, type 1 diabetes is not diagnosed until most beta cells have already been destroyed. At this point, a person needs daily insulin treatment to survive. Finding ways to modify or stop this autoimmune process and preserve beta cell function is a major focus of current scientific research. Recent research suggests insulin itself may be a key trigger of the immune attack on beta cells. The immune systems of people who are susceptible to developing type 1 diabetes respond to insulin as if it were a foreign substance, or antigen. To combat antigens, the body makes proteins called antibodies. Antibodies to insulin and other proteins produced by beta cells are found in people with type 1 diabetes. Researchers test for these antibodies to help identify people at increased risk of developing the disease. Testing the types and levels of antibodies in the blood can help determine whether a person has type 1 diabetes, LADA, or another type of diabetes. Environmental Factors Environmental factors, such as foods, viruses, and toxins, may play a role in the development of type 1 diabetes, but the exact nature of their role has not been determined. Some theories suggest that environmental factors trigger the autoimmune destruction of beta cells in people with a genetic susceptibility to diabetes. Other theories suggest that environmental factors play an ongoing role in diabetes, even after diagnosis. Viruses and infections. A virus cannot cause diabetes on its own, but people are sometimes diagnosed with type 1 diabetes during or after a viral infection, suggesting a link between the two. Also, the onset of type 1 diabetes occurs more frequently during the winter when viral infections are more common. Viruses possibly associated with type 1 diabetes include coxsackievirus B, cytomegalovirus, adenovirus, rubella, and mumps. Scientists have described several ways these viruses may damage or destroy beta cells or possibly trigger an autoimmune response in susceptible people. For example, anti-islet antibodies have been found in patients with congenital rubella syndrome, and cytomegalovirus has been associated with significant beta cell damage and acute pancreatitisinflammation of the pancreas. Scientists are trying to identify a virus that can cause type 1 diabetes so that a vaccine might be developed to prevent the disease. Infant feeding practices. Some studies have suggested that dietary factors may raise or lower the risk of developing type 1 diabetes. For example, breastfed infants and infants receiving vitamin D supplements may have a reduced risk of developing type 1 diabetes, while early exposure to cows milk and cereal proteins may increase risk. More research is needed to clarify how infant nutrition affects the risk for type 1 diabetes. Read more in the Centers for Disease Control and Preventions (CDCs) publication National Diabetes Statistics Report, 2014 at www.cdc.gov for information about research studies related to type 1 diabetes.

### Question: What causes Causes of Diabetes ? ### Answer:

Type 1 diabetes is caused by a lack of insulin due to the destruction of insulin-producing beta cells in the pancreas. In type 1 diabetesan autoimmune diseasethe bodys immune system attacks and destroys the beta cells. Normally, the immune system protects the body from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. But in autoimmune diseases, the immune system attacks the bodys own cells. In type 1 diabetes, beta cell destruction may take place over several years, but symptoms of the disease usually develop over a short period of time. Type 1 diabetes typically occurs in children and young adults, though it can appear at any age. In the past, type 1 diabetes was called juvenile diabetes or insulin-dependent diabetes mellitus. Latent autoimmune diabetes in adults (LADA) may be a slowly developing kind of type 1 diabetes. Diagnosis usually occurs after age 30. In LADA, as in type 1 diabetes, the bodys immune system destroys the beta cells. At the time of diagnosis, people with LADA may still produce their own insulin, but eventually most will need insulin shots or an insulin pump to control blood glucose levels. Genetic Susceptibility Heredity plays an important part in determining who is likely to develop type 1 diabetes. Genes are passed down from biological parent to child. Genes carry instructions for making proteins that are needed for the bodys cells to function. Many genes, as well as interactions among genes, are thought to influence susceptibility to and protection from type 1 diabetes. The key genes may vary in different population groups. Variations in genes that affect more than 1 percent of a population group are called gene variants. Certain gene variants that carry instructions for making proteins called human leukocyte antigens (HLAs) on white blood cells are linked to the risk of developing type 1 diabetes. The proteins produced by HLA genes help determine whether the immune system recognizes a cell as part of the body or as foreign material. Some combinations of HLA gene variants predict that a person will be at higher risk for type 1 diabetes, while other combinations are protective or have no effect on risk. While HLA genes are the major risk genes for type 1 diabetes, many additional risk genes or gene regions have been found. Not only can these genes help identify people at risk for type 1 diabetes, but they also provide important clues to help scientists better understand how the disease develops and identify potential targets for therapy and prevention. Genetic testing can show what types of HLA genes a person carries and can reveal other genes linked to diabetes. However, most genetic testing is done in a research setting and is not yet available to individuals. Scientists are studying how the results of genetic testing can be used to improve type 1 diabetes prevention or treatment. Autoimmune Destruction of Beta Cells In type 1 diabetes, white blood cells called T cells attack and destroy beta cells. The process begins well before diabetes symptoms appear and continues after diagnosis. Often, type 1 diabetes is not diagnosed until most beta cells have already been destroyed. At this point, a person needs daily insulin treatment to survive. Finding ways to modify or stop this autoimmune process and preserve beta cell function is a major focus of current scientific research. Recent research suggests insulin itself may be a key trigger of the immune attack on beta cells. The immune systems of people who are susceptible to developing type 1 diabetes respond to insulin as if it were a foreign substance, or antigen. To combat antigens, the body makes proteins called antibodies. Antibodies to insulin and other proteins produced by beta cells are found in people with type 1 diabetes. Researchers test for these antibodies to help identify people at increased risk of developing the disease. Testing the types and levels of antibodies in the blood can help determine whether a person has type 1 diabetes, LADA, or another type of diabetes. Environmental Factors Environmental factors, such as foods, viruses, and toxins, may play a role in the development of type 1 diabetes, but the exact nature of their role has not been determined. Some theories suggest that environmental factors trigger the autoimmune destruction of beta cells in people with a genetic susceptibility to diabetes. Other theories suggest that environmental factors play an ongoing role in diabetes, even after diagnosis. Viruses and infections. A virus cannot cause diabetes on its own, but people are sometimes diagnosed with type 1 diabetes during or after a viral infection, suggesting a link between the two. Also, the onset of type 1 diabetes occurs more frequently during the winter when viral infections are more common. Viruses possibly associated with type 1 diabetes include coxsackievirus B, cytomegalovirus, adenovirus, rubella, and mumps. Scientists have described several ways these viruses may damage or destroy beta cells or possibly trigger an autoimmune response in susceptible people. For example, anti-islet antibodies have been found in patients with congenital rubella syndrome, and cytomegalovirus has been associated with significant beta cell damage and acute pancreatitisinflammation of the pancreas. Scientists are trying to identify a virus that can cause type 1 diabetes so that a vaccine might be developed to prevent the disease. Infant feeding practices. Some studies have suggested that dietary factors may raise or lower the risk of developing type 1 diabetes. For example, breastfed infants and infants receiving vitamin D supplements may have a reduced risk of developing type 1 diabetes, while early exposure to cows milk and cereal proteins may increase risk. More research is needed to clarify how infant nutrition affects the risk for type 1 diabetes. Read more in the Centers for Disease Control and Preventions (CDCs) publication National Diabetes Statistics Report, 2014 at www.cdc.gov for information about research studies related to type 1 diabetes.

### Question: What are the symptoms of Relapsing polychondritis ? ### Answer:

What are the signs and symptoms of Relapsing polychondritis? Relapsing polychondritis (RP) is characterized by recurrent inflammation of cartilage (the tough but flexible tissue that covers the ends of bones at a joint) and other tissues throughout the body. The features of the condition and the severity of symptoms vary significantly from person to person, but may include: Ear: The ears are the most commonly affected body part. Symptoms include a sudden onset of pain, swelling, and tenderness of the cartilage of one or both ears. The pinna usually loses firmness and becomes floppy; hearing impairment may also occur. Inflammation of the inner ear may also cause nausea, vomiting, dizziness, and/or ataxia. Joint: The second most common finding is joint pain with or without arthritis. Eye: Affected people may experience episcleritis, uveitis and/or scleritis. Scleritis may lead to a bluish or dark discoloration of the sclera (white of the eye) and may even be associated with vision loss in severe cases. Proptosis (bulging out of one or both eye balls) may also be a symptom of RP. Nose: Nasal cartilage inflammation may lead to stuffiness, crusting, rhinorrhea, epistaxis (nose bleeds), compromised sense of smell and/or saddle nose deformity (a condition where the nose is weakened and thus "saddled" in the middle). Airways: Inflammation may affect the larynx, trachea (windpipe), and bronchi (tubes that branch off the trachea and carry air to the lungs). Airway involvement may lead to a cough, wheezing, hoarseness and recurrent infections. It can become life-threatening if not properly diagnosed and managed. Less commonly, RP may affect the heart, kidneys, nervous system, gastrointestinal tract, and/or vascular (veins) system. Nonspecific symptoms such as fever, weight loss, malaise, and fatigue may also be present. In approximately one third of affected people, RP is associated with other medical problems. Conditions reportedly associated with RP include hematological disease (including Hodgkin's lymphoma and myelodysplastic syndromes); gastrointestinal disorders (including Crohn's disease and ulcerative colitis); endocrine diseases (including diabetes mellitus type 1 and thyroid disorders) and others. Episodes of RP may last a few days or weeks and typically resolve with or without treatment. However, it is generally progressive, and many people have persistent symptoms in between flares. The Human Phenotype Ontology provides the following list of signs and symptoms for Relapsing polychondritis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nose 90% Arthralgia 90% Arthritis 90% Chondritis 90% Chondritis of pinna 90% External ear malformation 90% Abnormality of temperature regulation 50% Abnormality of the aortic valve 50% Abnormality of the pericardium 50% Abnormality of the voice 50% Aneurysm 50% Autoimmunity 50% Cartilage destruction 50% Cataract 50% Dilatation of the ascending aorta 50% Inflammatory abnormality of the eye 50% Limitation of joint mobility 50% Osteolysis 50% Periorbital edema 50% Proptosis 50% Sinusitis 50% Vasculitis 50% Vertigo 50% Abnormality of the endocardium 7.5% Abnormality of the liver 7.5% Abnormality of the mitral valve 7.5% Abnormality of the myocardium 7.5% Abnormality of the oral cavity 7.5% Anemia 7.5% Arrhythmia 7.5% Arterial thrombosis 7.5% Conductive hearing impairment 7.5% Congestive heart failure 7.5% Coronary artery disease 7.5% Cranial nerve paralysis 7.5% Encephalitis 7.5% Gangrene 7.5% Glomerulopathy 7.5% Hematuria 7.5% Hemiplegia/hemiparesis 7.5% Hypermelanotic macule 7.5% Incoordination 7.5% Laryngomalacia 7.5% Myelodysplasia 7.5% Proteinuria 7.5% Recurrent respiratory infections 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Sensorineural hearing impairment 7.5% Skin ulcer 7.5% Subcutaneous hemorrhage 7.5% Thrombophlebitis 7.5% Tinnitus 7.5% Tracheal stenosis 7.5% Tracheomalacia 7.5% Urticaria 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

### Question: What are the stages of Nasopharyngeal Cancer ? ### Answer:

Key Points - After nasopharyngeal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the nasopharynx or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for nasopharyngeal cancer: - Stage 0 (Carcinoma in Situ) - Stage I - Stage II - Stage III - Stage IV After nasopharyngeal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the nasopharynx or to other parts of the body. The process used to find out whether cancer has spread within the nasopharynx or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The results of the tests used to diagnose nasopharyngeal cancer are often also used to stage the disease. (See the General Information section.) There are three ways that cancer spreads in the body. Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. Cancer may spread from where it began to other parts of the body. When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if nasopharyngeal cancer spreads to the lung, the cancer cells in the lung are actually nasopharyngeal cancer cells. The disease is metastatic nasopharyngeal cancer, not lung cancer. The following stages are used for nasopharyngeal cancer: Stage 0 (Carcinoma in Situ) In stage 0, abnormal cells are found in the lining of the nasopharynx. These abnormal cells may become cancer and spread into nearby normal tissue. Stage 0 is also called carcinoma in situ. Stage I In stage I, cancer has formed and the cancer: - is found in the nasopharynx only; or - has spread from the nasopharynx to the oropharynx and/or to the nasal cavity. The oropharynx is the middle part of the throat and includes the soft palate, the base of the tongue, and the tonsils. Stage II In stage II nasopharyngeal cancer, the cancer: - is found in the nasopharynx only or has spread from the nasopharynx to the oropharynx and/or to the nasal cavity. Cancer has spread to one or more lymph nodes on one side of the neck and/or to lymph nodes behind the pharynx. The affected lymph nodes are 6 centimeters or smaller; or - is found in the parapharyngeal space. Cancer may have spread to one or more lymph nodes on one side of the neck and/or to lymph nodes behind the pharynx. The affected lymph nodes are 6 centimeters or smaller. The oropharynx is the middle part of the throat and includes the soft palate, the base of the tongue, and the tonsils. The parapharyngeal space is a fat-filled, triangular area near the pharynx, between the base of the skull and the lower jaw. Stage III In stage III nasopharyngeal cancer, the cancer: - is found in the nasopharynx only or has spread from the nasopharynx to the oropharynx and/or to the nasal cavity. Cancer has spread to one or more lymph nodes on both sides of the neck. The affected lymph nodes are 6 centimeters or smaller; or - is found in the parapharyngeal space. Cancer has spread to one or more lymph nodes on both sides of the neck. The affected lymph nodes are 6 centimeters or smaller; or - has spread to nearby bones or sinuses. Cancer may have spread to one or more lymph nodes on one or both sides of the neck and/or to lymph nodes behind the pharynx. The affected lymph nodes are 6 centimeters or smaller. The oropharynx is the middle part of the throat and includes the soft palate, the base of the tongue, and the tonsils. The parapharyngeal space is a fat-filled, triangular area near the pharynx, between the base of the skull and the lower jaw. Stage IV Stage IV nasopharyngeal cancer is divided into stages IVA, IVB, and IVC. - Stage IVA: Cancer has spread beyond the nasopharynx and may have spread to the cranial nerves, the hypopharynx (bottom part of the throat), areas in and around the side of the skull or jawbone, and/or the bone around the eye. Cancer may also have spread to one or more lymph nodes on one or both sides of the neck and/or to lymph nodes behind the pharynx. The affected lymph nodes are 6 centimeters or smaller. - Stage IVB: Cancer has spread to lymph nodes between the collarbone and the top of the shoulder and/or the affected lymph nodes are larger than 6 centimeters. - Stage IVC: Cancer has spread beyond nearby lymph nodes to other parts of the body.

### Question: How to diagnose Idiopathic Pulmonary Fibrosis ? ### Answer:

Idiopathic pulmonary fibrosis (IPF) causes the same kind of scarring and symptoms as some other lung diseases. This makes it hard to diagnose. Seeking medical help as soon as you have symptoms is important. If possible, seek care from a pulmonologist. This is a doctor who specializes in diagnosing and treating lung problems. Your doctor will diagnose IPF based on your medical history, a physical exam, and test results. Tests can help rule out other causes of your symptoms and show how badly your lungs are damaged. Medical History Your doctor may ask about: Your age Your history of smoking Things in the air at your job or elsewhere that could irritate your lungs Your hobbies Your history of legal and illegal drug use Other medical conditions that you have Your family's medical history How long you've had symptoms Diagnostic Tests No single test can diagnose IPF. Your doctor may recommend several of the following tests. Chest X Ray A chest x ray is a painless test that creates a picture of the structures in your chest, such as your heart and lungs. This test can show shadows that suggest scar tissue. However, many people who have IPF have normal chest x rays at the time they're diagnosed. High-Resolution Computed Tomography A high-resolution computed tomography scan, or HRCT scan, is an x ray that provides sharper and more detailed pictures than a standard chest x ray. HRCT can show scar tissue and how much lung damage you have. This test can help your doctor spot IPF at an early stage or rule it out. HRCT also can help your doctor decide how likely you are to respond to treatment. Lung Function Tests Your doctor may suggest a breathing test called spirometry(spi-ROM-eh-tree) to find out how much lung damage you have. This test measures how much air you can blow out of your lungs after taking a deep breath. Spirometry also measures how fast you can breathe the air out. If you have a lot of lung scarring, you won't be able to breathe out a normal amount of air. Pulse Oximetry For this test, your doctor attaches a small sensor to your finger or ear. The sensor uses light to estimate how much oxygen is in your blood. Arterial Blood Gas Test For this test, your doctor takes a blood sample from an artery, usually in your wrist. The sample is sent to a laboratory, where its oxygen and carbon dioxide levels are measured. This test is more accurate than pulse oximetry. The blood sample also can be tested to see whether an infection is causing your symptoms. Skin Test for Tuberculosis For this test, your doctor injects a substance under the top layer of skin on one of your arms. This substance reacts to tuberculosis (TB). If you have a positive reaction, a small hard lump will develop at the injection site 48 to 72 hours after the test. This test is done to rule out TB. Exercise Testing Exercise testing shows how well your lungs move oxygen and carbon dioxide in and out of your bloodstream when you're active. During this test, you walk or pedal on an exercise machine for a few minutes. An EKG(electrocardiogram) checks your heart rate, a blood pressure cuff checks your blood pressure, and a pulse oximeter shows how much oxygen is in your blood. Your doctor may place a catheter (a flexible tube) in an artery in one of your arms to draw blood samples. These samples will provide a more precise measure of the oxygen and carbon dioxide levels in your blood. Your doctor also may ask you to breathe into a tube that measures oxygen and carbon dioxide levels in your blood. Lung Biopsy For a lung biopsy, your doctor will take samples of lung tissue from several places in your lungs. The samples are examined under a microscope. A lung biopsy is the best way for your doctor to diagnose IPF. This procedure can help your doctor rule out other conditions, such as sarcoidosis (sar-koy-DO-sis), cancer, or infection. Lung biopsy also can show your doctor how far your disease has advanced. Doctors use several procedures to get lung tissue samples. Video-assisted thoracoscopy (thor-ah-KOS-ko-pee). This is the most common procedure used to get lung tissue samples. Your doctor inserts a small tube with an attached light and camera into your chest through small cuts between your ribs. The tube is called an endoscope. The endoscope provides a video image of the lungs and allows your doctor to collect tissue samples. This procedure must be done in a hospital. You'll be given medicine to make you sleep during the procedure. Bronchoscopy (bron-KOS-ko-pee). For a bronchoscopy, your doctor passes a thin, flexible tube through your nose or mouth, down your throat, and into your airways. At the tube's tip are a light and mini-camera. They allow your doctor to see your windpipe and airways. Your doctor then inserts a forceps through the tube to collect tissue samples. You'll be given medicine to help you relax during the procedure. Bronchoalveolar lavage (BRONG-ko-al-VE-o-lar lah-VAHZH). During bronchoscopy, your doctor may inject a small amount of salt water (saline) through the tube into your lungs. This fluid washes the lungs and helps bring up cells from the area around the air sacs. These cells are examined under a microscope. Thoracotomy (thor-ah-KOT-o-me). For this procedure, your doctor removes a few small pieces of lung tissue through a cut in the chest wall between your ribs. Thoracotomy is done in a hospital. You'll be given medicine to make you sleep during the procedure.

### Question: How to diagnose Asbestos-Related Lung Diseases ? ### Answer:

Your doctor will diagnose an asbestos-related lung disease based on your past exposure to asbestos, your symptoms, a physical exam, and test results. Specialists Involved Your primary care doctor, such as a family doctor or internist, may provide ongoing care if you have an asbestos-related lung disease. Other specialists also may be involved in your care, including a: Pulmonologist. This is a doctor who specializes in diagnosing and treating lung diseases. Radiologist. This is a doctor who is specially trained to supervise x-ray tests and look at x-ray pictures. Surgeon or oncologist. An oncologist is a doctor who specializes in diagnosing and treating cancer. The surgeon or oncologist may take a tissue sample from your lungs to study under a microscope. Pathologist. A pathologist is a doctor who specializes in identifying diseases by studying cells and tissues under a microscope. A pathologist may study your tissue sample. Exposure to Asbestos Your doctor will want to know about your history of asbestos exposure. He or she may ask about your work history and your spouse's or other family members work histories. Your doctor also may ask about your location and surroundings. For example, he or she may ask about areas of the country where you've lived. If you know you were exposed to asbestos, your doctor may ask questions to find out: How much asbestos you were exposed to. For example, were you surrounded by visible asbestos dust? How long you were exposed to asbestos and how often during that time you were in direct contact with it. Symptoms Your doctor may ask whether you have any symptoms, such as shortness of breath or coughing. The symptoms of asbestos-related lung diseases vary. They depend on which disease you have and how much it has damaged your lungs. Your doctor also may ask whether you smoke. Smoking, along with asbestos exposure, raises your risk for lung cancer. Physical Exam Your doctor will listen to your breathing with a stethoscope to find out whether your lungs are making any strange sounds. If you have a pleural effusion with a lot of fluid buildup, your doctor might hear a dull sound when he or she taps on your chest. Or, he or she might have trouble hearing any breathing sounds. If you have asbestosis, your doctor may hear a crackling sound when you breathe in. Your doctor will check your legs for swelling, which may be a sign of lung-related problems. He or she also will check your fingers and toes for clubbing. Clubbing is the widening and rounding of the fingertips and toes. Clubbing most often is linked to heart and lung diseases that cause lower-than-normal blood oxygen levels. Chest X Ray A chest x ray is the most common test for detecting asbestos-related lung diseases. This painless test creates pictures of the structures inside your chest, such as the lungs. A chest x ray cant detect asbestos fibers in the lungs. However, it can show asbestos-related diseases, such as pleural plaque and pleural effusion. Pleural effusion also can be a sign of a more severe disease, such as mesothelioma. A chest x ray also can show asbestosis. Often the lung tissue will appear very white on the x-ray pictures. The size, shape, location, and degree of whiteness can help your doctor figure out how much lung damage you have. Severe asbestosis may affect the whole lung and have a honeycomb look on the x-ray pictures. If you have lung cancer, a chest x ray may show masses or abnormal fluid. If you have mesothelioma, a chest x ray will show thickening of the pleura. The pleura is the tissue around the lungs and diaphragm (the muscle below your lungs). The chest xray also will usually show signs of pleural effusion in people who have mesothelioma. Other Diagnostic Tests To help confirm a chest x-ray finding, or to find out how much lung damage you have, you may have more tests. Chest Computed Tomography Scan A chest computed tomography (to-MOG-ra-fee) scan, or chest CT scan, is a painless test that creates precise pictures of the structures inside your chest, such as your lungs. A CT scan is a type of x ray, but its pictures show more detail than standard chest x-ray pictures. A chest CT scan may be very helpful for finding asbestosis in its earliest stages, before a standard chest x ray can detect it. Lung Function Tests Lung function tests measure how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs deliver oxygen to your blood. These tests can show whether your lung function is impaired. They also can help your doctor track your disease over time. Biopsy The only way to confirm a diagnosis of lung cancer or mesothelioma is for a pathologist to check samples of your lung cells or tissues. A pathologist is a doctor who identifies diseases by studying cells and tissues under a microscope. Doctors have many ways to collect tissue samples. One way is through bronchoscopy (bron-KOS-ko-pee). For this procedure, your doctor will pass a thin, flexible tube through your nose (or sometimes your mouth), down your throat, and into your airways. He or she will then take a sample of tissue from your lungs. If your doctor thinks you have mesothelioma, you may have a thoracoscopy (thor-ah-KOS-ko-pee). For this procedure, you'll be given medicine so you don't feel any pain. Your doctor will make a small cut through your chest wall. He or she will put a thin tube with a light on it into your chest between two ribs. This allows your doctor to see inside your chest and get tissue samples.

### Question: What are the treatments for Prolactinoma ? ### Answer:

The goals of treatment are to return prolactin secretion to normal, reduce tumor size, correct any visual abnormalities, and restore normal pituitary function. In the case of large tumors, only partial achievement of these goals may be possible. Medical Treatment Because dopamine is the chemical that normally inhibits prolactin secretion, doctors may treat prolactinoma with the dopamine agonists bromocriptine (Parlodel) or cabergoline (Dostinex). Agonists are drugs that act like a naturally occurring substance. These drugs shrink the tumor and return prolactin levels to normal in approximately 80 percent of patients. Both drugs have been approved by the U.S. Food and Drug Administration for the treatment of hyperprolactinemia. Bromocriptine is the only dopamine agonist approved for the treatment of infertility. This drug has been in use longer than cabergoline and has a well-established safety record. Nausea and dizziness are possible side effects of bromocriptine. To avoid these side effects, bromocriptine treatment must be started slowly. A typical starting dose is one-quarter to one-half of a 2.5 milligram (mg) tablet taken at bedtime with a snack. The dose is gradually increased every 3 to 7 days as needed and taken in divided doses with meals or at bedtime with a snack. Most people are successfully treated with 7.5 mg a day or less, although some people need 15 mg or more each day. Because bromocriptine is short acting, it should be taken either twice or three times daily. Bromocriptine treatment should not be stopped without consulting a qualified endocrinologist-a doctor specializing in disorders of the hormone-producing glands. Prolactin levels rise again in most people when the drug is discontinued. In some, however, prolactin levels remain normal, so the doctor may suggest reducing or discontinuing treatment every 2 years on a trial basis. Cabergoline is a newer drug that may be more effective than bromocriptine in normalizing prolactin levels and shrinking tumor size. Cabergoline also has less frequent and less severe side effects. Cabergoline is more expensive than bromocriptine and, being newer on the market, its long-term safety record is less well defined. As with bromocriptine therapy, nausea and dizziness are possible side effects but may be avoided if treatment is started slowly. The usual starting dose is .25 mg twice a week. The dose may be increased every 4 weeks as needed, up to 1 mg two times a week. Cabergoline should not be stopped without consulting a qualified endocrinologist. Recent studies suggest prolactin levels are more likely to remain normal after discontinuing long-term cabergoline therapy than after discontinuing bromocriptine. More research is needed to confirm these findings. In people taking cabergoline or bromocriptine to treat Parkinson's disease at doses more than 10 times higher than those used for prolactinomas, heart valve damage has been reported. Rare cases of valve damage have been reported in people taking low doses of cabergoline to treat hyperprolactinemia. Before starting these medications, the doctor will order an echocardiogram. An echocardiogram is a sonogram of the heart that checks the heart valves and heart function. Because limited information exists about the risks of long-term, low-dose cabergoline use, doctors generally prescribe the lowest effective dose and periodically reassess the need for continuing therapy. People taking cabergoline who develop symptoms of shortness of breath or swelling of the feet should promptly notify their physician because these may be signs of heart valve damage. Surgery Surgery to remove all or part of the tumor should only be considered if medical therapy cannot be tolerated or if it fails to reduce prolactin levels, restore normal reproduction and pituitary function, and reduce tumor size. If medical therapy is only partially successful, it should be continued, possibly combined with surgery or radiation. Most often, the tumor is removed through the nasal cavity. Rarely, if the tumor is large or has spread to nearby brain tissue, the surgeon will access the tumor through an opening in the skull. The results of surgery depend a great deal on tumor size and prolactin levels as well as the skill and experience of the neurosurgeon. The higher the prolactin level before surgery, the lower the chance of normalizing serum prolactin. Serum is the portion of the blood used in measuring prolactin levels. In the best medical centers, surgery corrects prolactin levels in about 80 percent of patients with small tumors and a serum prolactin less than 200 nanograms per milliliter (ng/ml). A surgical cure for large tumors is lower, at 30 to 40 percent. Even in patients with large tumors that cannot be completely removed, drug therapy may be able to return serum prolactin to the normal range-20 ng/ml or less-after surgery. Depending on the size of the tumor and how much of it is removed, studies show that 20 to 50 percent will recur, usually within 5 years. Because the results of surgery are so dependent on the skill and knowledge of the neurosurgeon, a patient should ask the surgeon about the number of operations he or she has performed to remove pituitary tumors and for success and complication rates in comparison to major medical centers. The best results come from surgeons who have performed hundreds or even thousands of such operations. To find a surgeon, contact The Pituitary Society (see For More Information). Radiation Rarely, radiation therapy is used if medical therapy and surgery fail to reduce prolactin levels. Depending on the size and location of the tumor, radiation is delivered in low doses over the course of 5 to 6 weeks or in a single high dose. Radiation therapy is effective about 30 percent of the time.

### Question: What is (are) Kidney Failure: Choosing a Treatment That's Right for You ? ### Answer:

Purpose of Peritoneal Dialysis The purpose of peritoneal dialysis is to filter wastes and extra fluid from your body. This type of dialysis uses the lining of your bellythe space in your body that holds your stomach, bowels, and liverto filter your blood. This lining, called the peritoneum, acts to do the work of your kidneys. How Peritoneal Dialysis Works A doctor will place a soft tube, called a catheter, in your belly a few weeks before you start treatment. The catheter stays in your belly permanently. When you start peritoneal dialysis, you will empty a kind of salty water, called dialysis solution, from a plastic bag through the catheter into your belly. When the bag is empty, you can disconnect your catheter from the bag so you can move around and do your normal activities. While the dialysis solution is inside your belly, it soaks up wastes and extra fluid from your body. After a few hours, you drain the used dialysis solution through another tube into a drain bag. You can throw away the used dialysis solution, now filled with wastes and extra fluid, in a toilet or tub. Then you start over with a fresh bag of dialysis solution. The process of emptying the used dialysis solution and refilling your belly with fresh solution is called an exchange. The process goes on continuously, so you always have dialysis solution in your belly soaking up wastes and extra fluid from your body. Types of Peritoneal Dialysis Two types of peritoneal dialysis are available. After you have learned about the types of peritoneal dialysis, you can choose the type that best fits your life. If one schedule or type of peritoneal dialysis does not suit you, talk with your doctor about trying the other type. - Continuous ambulatory peritoneal dialysis does not require a machine and you can do it in any clean, well-lit place. The time period that the dialysis solution is in your belly is the dwell time. With continuous ambulatory peritoneal dialysis, the dialysis solution stays in your belly for a dwell time of 4 to 6 hours, or more. The process of draining the used dialysis solution and replacing it with fresh solution takes about 30 to 40 minutes. Most people change the dialysis solution at least four times a day and sleep with solution in their belly at night. With continuous ambulatory peritoneal dialysis, you do not have to wake up and perform dialysis tasks during the night. - Continuous cycler-assisted peritoneal dialysis uses a machine called a cycler to fill and empty your belly three to five times during the night while you sleep. In the morning, you begin one exchange with a dwell time that lasts the entire day. You may do an additional exchange in the middle of the afternoon without the cycler to increase the amount of waste removed and to reduce the amount of fluid left behind in your body. You may need a combination of continuous ambulatory peritoneal dialysis and continuous cycler-assisted peritoneal dialysis if you weigh more than 175 pounds or if your peritoneum filters wastes slowly. For example, some people use a cycler at night and perform one exchange during the day. Others do four exchanges during the day and use a minicycler to perform one or more exchanges during the night. Youll work with your health care team to find the best schedule for you. Pros and Cons of Peritoneal Dialysis Each type of peritoneal dialysis has pros and cons. Continuous Ambulatory Peritoneal Dialysis Pros - You can do continuous ambulatory peritoneal dialysis alone. - You can do continuous ambulatory peritoneal dialysis at the times you choose, as long as you perform the required number of exchanges each day. - You can do continuous ambulatory peritoneal dialysis in many locations. - You can travel as long as you bring dialysis bags with you or have them delivered to your destination. - You dont need a machine for continuous ambulatory peritoneal dialysis. - You gain a sense of control over your treatment. Cons - Continuous ambulatory peritoneal dialysis can disrupt your daily schedule. - Continuous ambulatory peritoneal dialysis is a continuous treatment, and you should do all exchanges 7 days a week. - Boxes of dialysis solution will take up space in your home. Continuous Cycler-assisted Peritoneal Dialysis Pros - You can do exchanges at night, while you sleep. - You may not have to perform exchanges during the day. Cons - You need a machine. - Your connection to the cycler limits your movement at night. Questions to Ask My Doctor - Is peritoneal dialysis the best treatment choice for me? Why? If yes, which type is best? - What type of training do I need, and how long will it take? - What does peritoneal dialysis feel like? - How will peritoneal dialysis affect my ____ [blood pressure, diabetes, other conditions]? - Will I be able to keep working? Will I be able to care for my children? - How much should I exercise? - Where do I store supplies? - How often do I see my doctor? - Who will be on my health care team? How can the members of my health care team help me? - Whom do I contact if I have problems? - With whom can I talk about finances, sex, or family concerns? - How/where can I talk with other people who have faced this decision? More information about Peritoneal Dialysis is provided in the NIDDK health topic, Treatment Methods for Kidney Failure: Peritoneal Dialysis. See also the Kidney Failure Treatment Comparison Chart, which compares peritoneal dialysis, hemodialysis, and transplantation.

### Question: How to diagnose Cirrhosis ? ### Answer:

A health care provider usually diagnoses cirrhosis based on the presence of conditions that increase its likelihood, such as heavy alcohol use or obesity, and symptoms. A health care provider may test for cirrhosis based on the presence of these conditions alone because many people do not have symptoms in the early stages of the disease. A health care provider may confirm the diagnosis with - a medical and family history - a physical exam - a blood test - imaging tests - a liver biopsy Medical and family history. Taking a medical and family history is one of the first things a health care provider may do to help diagnose cirrhosis. He or she will ask the patient to provide a medical and family history. Physical exam. A physical exam may help diagnose cirrhosis. During a physical exam, a health care provider usually - examines a patients body - uses a stethoscope to listen to sounds in the abdomen - taps on specific areas of the patients body The health care provider will perform a physical exam to look for signs of the disease. For example, the liver may feel hard or ascites may cause the abdomen to enlarge. Blood test. A blood test involves drawing blood at a health care providers office or a commercial facility and sending the sample to a lab for analysis. Blood tests can show abnormal liver enzyme levels or abnormal numbers of blood cells or platelets. Blood tests can help find the cause in people with diagnosed cirrhosis. For example, a health care provider may use blood tests to diagnose hepatitis B and C. Health care providers use three blood tests to measure the severity of cirrhosis: - bilirubin, which tests the amount of bile pigment in the blood - creatinine, which tests kidney function - international normalized ratio, which tests the bloods ability to clot The results of these blood tests are used to calculate the Model for End-stage Liver Disease (MELD) score. Experts developed the MELD score to predict the 90-day survival rate of people with end-stage liver disease. MELD scores usually range between 6 and 40, with a score of 6 indicating the best likelihood of 90-day survival. The MELD score is used to determine whether a person is eligible for liver transplantation. Imaging tests. Imaging tests can show signs of advanced cirrhosis, such as irregularities in the liver surface, gastric varices, and splenomegaly. These tests can also detect signs of complications, such as ascites and liver cancer. - Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. A specially trained technician performs the procedure in a health care providers office, an outpatient center, or a hospital, and a radiologista doctor who specializes in medical imaginginterprets the images. A patient does not need anesthesia. - Computerized tomography (CT) scans use a combination of x rays and computer technology to create images. For a CT scan, a technician may give the patient a solution to drink and an injection of a special dye, called contrast medium. CT scans require the patient to lie on a table that slides into a tunnelshaped device where the technician takes the x rays. An x-ray technician performs the procedure in an outpatient center or a hospital, and a radiologist interprets the images. A patient does not need anesthesia. - Magnetic resonance imaging (MRI) machines use radio waves and magnets to produce detailed pictures of the bodys internal organs and soft tissues without using x rays. A specially trained technician performs the procedure in an outpatient center or a hospital, and a radiologist interprets the images. A patient does not need anesthesia, though a health care provider may use light sedation for patients with a fear of confined spaces. An MRI may include the injection of contrast medium. With most MRI machines, the patient lies on a table that slides into a tunnel-shaped device that may be open ended or closed at one end; some machines allow the patient to lie in a more open space. - Elastography, also called liver stiffness measurement, uses either ultrasound or MRI to measure the stiffness of the liver. Scar tissue increases the stiffness of the liver. Elastography can show how much scarring is present with some reliability. Elastography is a relatively new test. However, this test promises to be helpful in showing how severe liver scarring is and whether the scarring is getting worse over time. Liver biopsy. A liver biopsy is a procedure that involves taking a piece of liver tissue for examination with a microscope for signs of damage or disease. The health care provider may ask the patient to stop taking certain medications temporarily before the liver biopsy. The health care provider may ask the patient to fast for 8 hours before the procedure. During the procedure, the patient lies on a table, right hand resting above the head. The health care provider applies a local anesthetic to the area where he or she will insert the biopsy needle. If needed, a health care provider will also give sedatives and pain medication. The health care provider uses a needle to take a small piece of liver tissue. He or she may use ultrasound, CT scans, or other imaging techniques to guide the needle. After the biopsy, the patient must lie on the right side for up to 2 hours and is monitored an additional 2 to 4 hours before being sent home. A health care provider performs a liver biopsy at a hospital or an outpatient center. The health care provider sends the liver sample to a pathology lab, where the pathologista doctor who specializes in diagnosing diseaseslooks at the tissue with a microscope and sends a report to the patients health care provider. A liver biopsy can confirm the diagnosis of cirrhosis; however, a person does not always need this test. A health care provider will perform a biopsy if the result might help determine the cause or affect treatment. Sometimes a health care provider finds a cause of liver damage other than cirrhosis during biopsy.

### Question: What are the symptoms of Pyruvate dehydrogenase deficiency ? ### Answer:

What are the signs and symptoms of Pyruvate dehydrogenase deficiency? Pyruvate dehydrogenase (PDH) deficiency can have a significant effect on fetal development, which may become apparent during late pregnancy with poor fetal weight gain and decreasing levels of estriol in the urine of the mother during pregnancy. Delivery may be complicated, and babies may have low Apgar scores. A low birth weight is common. It has been suggested that there is a characteristic abnormal appearance associated with PDH deficiency, which may include a narrow head, prominent forehead (frontal bossing), wide nasal bridge, long philtrum and flared nostrils; however, these are not seen in all individuals and these features may occur with other disorders as well. Other abnormalities that have been reported include a simian crease, short neck, slight shortening of the limbs, flexion contractures (bent fingers), pes cavus (high arched foot), club foot, ventricular septal defect, and hydronephrosis. Individuals with PDH deficiency typically develop symptoms soon after birth. In general, there are two major types of onset: metabolic and neurological. The metabolic type presents as severe lactic acidosis (too much lactate in the bloodstream). This often does not respond to treatment, thus many of the individuals with this type of onset die during the newborn period (in very few cases, the lactic acidosis has been reported to respond to high doses of thiamine). Some individuals with severe lactic acidosis have also had severe hyperammonemia (high levels of ammonia in the blood). Individuals with the neurological type typically have hypotonia (poor muscle tone), poor feeding, and lethargy, and they later develop seizures. This type typically progresses to severe mental retardation, microcephaly (small head), blindness, and spasticity with secondary contractures (damage to muscles and tendons). However, long term survival is possible and several individuals with this type have reportedly reached their teens. Between these two extremes, there is a continuous range of intermediate forms. When the metabolic abnormalities (lactic acidosis and hyperammonemia) are less severe, the onset may be delayed until later in infancy, and these individuals may have intermittent episodes of lactic acidosis, which often is brought on by an illness and is associated with cerebellar ataxia (abnormal muscle movement). Some of the individuals with primarily neurological symptoms are said to have Leigh's disease. Although PDH deficiency occurs in males and females equally, the presentation of the disease differs between them. The metabolic type, especially the severe neonatal lactic acidosis, is much more common in males; the chronic, neurological form is much more common in females. The Human Phenotype Ontology provides the following list of signs and symptoms for Pyruvate dehydrogenase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Feeding difficulties in infancy 90% Muscular hypotonia 90% Reduced consciousness/confusion 90% Abnormal pattern of respiration 50% Abnormal pyramidal signs 50% Abnormality of eye movement 50% Aplasia/Hypoplasia of the corpus callosum 50% Chorea 50% Cognitive impairment 50% Gait disturbance 50% Hypertonia 50% Incoordination 50% Intrauterine growth retardation 50% Microcephaly 50% Neurological speech impairment 50% Seizures 50% Tremor 50% Abnormal facial shape 35% Abnormality of the nose 7.5% Abnormality of the palate 7.5% Cerebral palsy 7.5% Epicanthus 7.5% Frontal bossing 7.5% Hypertelorism 7.5% Long philtrum 7.5% Multiple lipomas 7.5% Narrow face 7.5% Pectus excavatum 7.5% Respiratory insufficiency 7.5% Trigonocephaly 7.5% Upslanted palpebral fissure 7.5% Ventriculomegaly 7.5% Agenesis of corpus callosum - Anteverted nares - Apneic episodes precipitated by illness, fatigue, stress - Basal ganglia cysts - Cerebral atrophy - Choreoathetosis - Chronic lactic acidosis - Decreased activity of the pyruvate dehydrogenase (PDH) complex - Dystonia - Episodic ataxia - Flared nostrils - Hyperalaninemia - Increased CSF lactate - Increased serum lactate - Infantile onset - Intellectual disability - Lethargy - Phenotypic variability - Ptosis - Severe lactic acidosis - Small for gestational age - Wide nasal bridge - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

### Question: Who is at risk for Prostate Cancer? ? ### Answer:

Avoiding risk factors and increasing protective factors may help prevent cancer. Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. Talk to your doctor or other health care professional about how you might lower your risk of cancer. The following risk factors may increase the risk of prostate cancer: Age Prostate cancer is rare in men younger than 50 years of age. The chance of developing prostate cancer increases as men get older. Family history of prostate cancer A man whose father, brother, or son has had prostate cancer has a higher-than-average risk of prostate cancer. Race Prostate cancer occurs more often in African-American men than in white men. African-American men with prostate cancer are more likely to die from the disease than white men with prostate cancer. Hormones The prostate needs male hormones to work the way it should. The main male sex hormone is testosterone. Testosterone helps the body develop and maintain male sex characteristics. Testosterone is changed into dihydrotestosterone (DHT) by an enzyme in the body. DHT is important for normal prostate growth but can also cause the prostate to get bigger and may play a part in the development of prostate cancer. Vitamin E The Selenium and Vitamin E Cancer Prevention Trial (SELECT) found that vitamin E taken alone increased the risk of prostate cancer. The risk continued even after the men stopped taking vitamin E. Folic acid Folate is a kind of vitamin B that occurs naturally in some foods, such as green vegetables, beans and orange juice. Folic acid is a man-made form of folate that is found in vitamin supplements and fortified foods, such as whole-grain breads and cereals. A 10-year study showed that the risk of prostate cancer was increased in men who took 1 milligram (mg) supplements of folic acid. However, the risk of prostate cancer was lower in men who had enough folate in their diets. Dairy and calcium A diet high in dairy foods and calcium may cause a small increase in the risk of prostate cancer. The following protective factors may decrease the risk of prostate cancer: Folate Folate is a kind of vitamin B that occurs naturally in some foods, such as green vegetables, beans and orange juice. Folic acid is a man-made form of folate that is found in vitamin supplements and fortified foods, such as whole-grain breads and cereals. A 10-year study showed that the risk of prostate cancer was lower in men who had enough folate in their diets. However, the risk of prostate cancer was increased in men who took 1 milligram (mg) supplements of folic acid. Finasteride and Dutasteride Finasteride and dutasteride are drugs used to lower the amount of male sex hormones made by the body. These drugs block the enzyme that changes testosterone into dihydrotestosterone (DHT). Higher than normal levels of DHT may play a part in developing prostate cancer. Taking finasteride or dutasteride has been shown to lower the risk for prostate cancer, but it is not known if these drugs lower the risk of death from prostate cancer. The Prostate Cancer Prevention Trial (PCPT) studied whether the drug finasteride can prevent prostate cancer in healthy men 55 years of age and older. This prevention study showed there were fewer prostate cancers in the group of men that took finasteride compared with the group of men that did not. Also, the men who took finasteride who did have prostate cancer had more aggressive tumors. The number of deaths from prostate cancer was the same in both groups. Men who took finasteride reported more side effects compared with the group of men that did not, including erectile dysfunction, loss of desire for sex, and enlarged breasts. The Reduction by Dutasteride of Prostate Cancer Events Trial (REDUCE) studied whether the drug dutasteride can prevent prostate cancer in men aged 50 to 75 years at higher risk for the disease. This prevention study showed there were fewer prostate cancers in the group of men who took dutasteride compared with the group of men that did not. The number of less aggressive prostate cancers was lower, but the number of more aggressive prostate cancers was not. Men who took dutasteride reported more side effects than men who did not, including erectile dysfunction, loss of desire for sex, less semen, and gynecomastia (enlarged breasts). The following have been proven not to affect the risk of prostate cancer, or their effects on prostate cancer risk are not known: Selenium and vitamin E The Selenium and Vitamin E Cancer Prevention Trial (SELECT) studied whether taking vitamin E and selenium (a mineral) will prevent prostate cancer. The selenium and vitamin E were taken separately or together by healthy men 55 years of age and older (50 years of age and older for African-American men). The study showed that taking selenium alone or selenium and vitamin E together did not decrease the risk of prostate cancer. Diet It is not known if decreasing fat or increasing fruits and vegetables in the diet helps decrease the risk of prostate cancer or death from prostate cancer. In the PCPT trial, certain fatty acids increased the risk of high-grade prostate cancer while others decreased the risk of high-grade prostate cancer. Multivitamins Regular use of multivitamins has not been proven to increase the risk of early or localized prostate cancer. However, a large study showed an increased risk of advanced prostate cancer among men who took multivitamins more than seven times a week. Lycopene Some studies have shown that a diet high in lycopene may be linked to a decreased risk of prostate cancer, but other studies have not. It has not been proven that taking lycopene supplements decreases the risk of prostate cancer.

### Question: What are the stages of Gestational Trophoblastic Disease ? ### Answer:

Key Points - After gestational trophoblastic neoplasia has been diagnosed, tests are done to find out if cancer has spread from where it started to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - There is no staging system for hydatidiform moles. - The following stages are used for GTN: - Stage I - Stage II - Stage III - Stage IV - The treatment of gestational trophoblastic neoplasia is based on the type of disease, stage, or risk group. After gestational trophoblastic neoplasia has been diagnosed, tests are done to find out if cancer has spread from where it started to other parts of the body. The process used to find out the extent or spread of cancer is called staging, The information gathered from the staging process helps determine the stage of disease. For GTN, stage is one of the factors used to plan treatment. The following tests and procedures may be done to help find out the stage of the disease: - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body onto film, making pictures of areas inside the body. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging) with gadolinium : A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body, such as brain and spinal cord. A substance called gadolinium is injected into a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Lumbar puncture : A procedure used to collect cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of the fluid. The sample of CSF is checked under a microscope for signs that the cancer has spread to the brain and spinal cord. This procedure is also called an LP or spinal tap. There are three ways that cancer spreads in the body. Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. Cancer may spread from where it began to other parts of the body. When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if choriocarcinoma spreads to the lung, the cancer cells in the lung are actually choriocarcinoma cells. The disease is metastatic choriocarcinoma, not lung cancer. There is no staging system for hydatidiform moles. Hydatidiform moles (HM) are found in the uterus only and do not spread to other parts of the body. The following stages are used for GTN: Stage I In stage I, the tumor is in the uterus only. Stage II In stage II, cancer has spread outside of the uterus to the ovary, fallopian tube, vagina, and/or the ligaments that support the uterus. Stage III In stage III, cancer has spread to the lung. Stage IV In stage IV, cancer has spread to distant parts of the body other than the lungs. The treatment of gestational trophoblastic neoplasia is based on the type of disease, stage, or risk group. Invasive moles and choriocarcinomas are treated based on risk groups. The stage of the invasive mole or choriocarcinoma is one factor used to determine risk group. Other factors include the following: - The age of the patient when the diagnosis is made. - Whether the GTN occurred after a molar pregnancy, miscarriage, or normal pregnancy. - How soon the tumor was diagnosed after the pregnancy began. - The level of beta human chorionic gonadotropin (-hCG) in the blood. - The size of the largest tumor. - Where the tumor has spread to and the number of tumors in the body. - How many chemotherapy drugs the tumor has been treated with (for recurrent or resistant tumors). There are two risk groups for invasive moles and choriocarcinomas: low risk and high risk. Patients with low-risk disease usually receive less aggressive treatment than patients with high-risk disease. Placental-site trophoblastic tumor (PSTT) and epithelioid trophoblastic tumor (ETT) treatments depend on the stage of disease.

### Question: What are the symptoms of Mitochondrial complex II deficiency ? ### Answer:

What are the signs and symptoms of Mitochondrial complex II deficiency? The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Many factors affect symptom and symptom severity, including what gene mutation is involved. Many genes must work together to ensure that the enzyme, complex II (succinate dehydrogenase), can perform its job normally in the body. Changes in the SDHA, SDHB, SDHC, SDHD, SDHAF1, or SDHAF2 genes can all potentially cause complex II deficiency. Much of what we know today about the signs and symptoms of complex II deficiency are based on articles which describe individual patients. Due to the rarity of this condition and the complexity of its cause, it is very difficult to predict how a person will be affected. We strongly recommend that you work with your or your childs healthcare provider to learn more about how the deficiency is affecting your or your childs health. In the meantime, we have summarized symptoms of complex II deficiency which have been described in case reports: Inheriting two SDHA gene mutations has caused myoclonic seizures and Leighs syndrome. Leigh syndrome is a severe neurological disorder that typically arises in the first year of life. This condition is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within a couple of years, usually due to respiratory failure. A small number of people develop symptoms in adulthood or have symptoms that worsen more slowly. The first signs of Leigh syndrome seen in infancy are usually vomiting, diarrhea, and difficulty swallowing (dysphagia) that leads to eating problems. Click here to visit Genetics Home Reference and learn more about Leigh syndrome. Inheriting two SDHB gene mutations can cause leukodystrophy. Leukodystrophies affect the myelin sheath, the material that surrounds and protects nerve cells. Damage to this sheath slows down or blocks messages between the brain and the rest of the body. This leads to problems with movement, speaking, vision, hearing, and mental and physical development. Most of the leukodystrophies appear during infancy or childhood. They can be hard to detect early because children seem healthy at first. However, symptoms gradually get worse over time. Click here to visit MedlinePlus.gov and learn more about leukodystprohy. Inheriting two SDHAF1 gene mutations can cause severe progressive leukoencephalopathy beginning in infancy. Leukoencephalopathy refers to the degeneration of the white matter of the brain. It is usually diagnosed by MRI. It causes cognitive impairment, increased muscle tone, and hyperactive reflexes. Inheriting two SDHD gene mutations can cause progressive loss of mental and movement abilities (psychomotor retardation), and seizures. Signs and symptoms may begin in infancy and progress through childhood. Complex II deficiency has also been described in association with dilated cardiomyopathy (and heart failure in childhood), hemolytic uremic syndrome and rhabdomyolysis, congenital dislocation of the hip joint, progressive encephalomyopathy (a disorder affecting the brain and skeletal muscle, usually causing weakness) with dementia, and KearnsSayre syndrome. Case reports have also demonstrated that people who have only a single mutation in one of these genes may also be at risk for health problems: Having one SDHA gene mutation caused optic atrophy, ataxia, proximal myopathy in adulthood. Having one mutation in the SDHA, SDHB, SDHC, SDHAF2, or SDHD gene can cause an increased risk for paragangliomas and/or pheochromocytomas. The Human Phenotype Ontology provides the following list of signs and symptoms for Mitochondrial complex II deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal mitochondria in muscle tissue - Ataxia - Autosomal recessive inheritance - Babinski sign - Cognitive impairment - Decreased activity of mitochondrial complex II - Developmental regression - Dilated cardiomyopathy - Dystonia - Exercise intolerance - Flexion contracture - Hyperreflexia - Hypertrophic cardiomyopathy - Increased intramyocellular lipid droplets - Increased serum lactate - Infantile onset - Leukoencephalopathy - Muscle weakness - Myoclonus - Neonatal hypotonia - Nystagmus - Ophthalmoplegia - Optic atrophy - Phenotypic variability - Pigmentary retinopathy - Progressive leukoencephalopathy - Ptosis - Ragged-red muscle fibers - Seizures - Short stature - Spasticity - Stress/infection-induced lactic acidosis - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

### Question: What are the treatments for Treatment Methods for Kidney Failure: Hemodialysis ? ### Answer:

Your kidneys do much more than remove wastes and extra fluid. They also make hormones and balance chemicals in your system. When your kidneys stop working, you may have problems with anemia and conditions that affect your bones, nerves, and skin. Some of the more common conditions caused by kidney failure are extreme tiredness, bone problems, joint problems, itching, and "restless legs." Restless legs will keep you awake as you feel them twitching and jumping. Anemia and Erythropoietin (EPO) Anemia is a condition in which the volume of red blood cells is low. Red blood cells carry oxygen to cells throughout the body. Without oxygen, cells can't use the energy from food, so someone with anemia may tire easily and look pale. Anemia can also contribute to heart problems. Anemia is common in people with kidney disease because the kidneys produce the hormone erythropoietin, or EPO, which stimulates the bone marrow to produce red blood cells. Diseased kidneys often don't make enough EPO, and so the bone marrow makes fewer red blood cells. EPO is available commercially and is commonly given to patients on dialysis. For more information about the causes of and treatments for anemia in kidney failure, see the NIDDK fact sheet Anemia in Chronic Kidney Disease. Renal Osteodystrophy The term "renal" describes things related to the kidneys. Renal osteodystrophy, or bone disease of kidney failure, affects 90 percent of dialysis patients. It causes bones to become thin and weak or formed incorrectly and affects both children and adults. Symptoms can be seen in growing children with kidney disease even before they start dialysis. Older patients and women who have gone through menopause are at greater risk for this disease. For more information about the causes of this bone disease and its treatment in dialysis patients, see the NIDDK fact sheet Chronic Kidney Disease-Mineral and Bone Disorder. Itching (Pruritus) Many people treated with hemodialysis complain of itchy skin, which is often worse during or just after treatment. Itching is common even in people who don't have kidney disease; in kidney failure, however, itching can be made worse by wastes in the bloodstream that current dialyzer membranes can't remove from the blood. The problem can also be related to high levels of parathyroid hormone (PTH). Some people have found dramatic relief after having their parathyroid glands removed. The four parathyroid glands sit on the outer surface of the thyroid gland, which is located on the windpipe in the base of your neck, just above the collarbone. The parathyroid glands help control the levels of calcium and phosphorus in the blood. But a cure for itching that works for everyone has not been found. Phosphate binders seem to help some people; these medications act like sponges to soak up, or bind, phosphorus while it is in the stomach. Others find relief after exposure to ultraviolet light. Still others improve with EPO shots. A few antihistamines (Benadryl, Atarax, Vistaril) have been found to help; also, capsaicin cream applied to the skin may relieve itching by deadening nerve impulses. In any case, taking care of dry skin is important. Applying creams with lanolin or camphor may help. Sleep Disorders Patients on dialysis often have insomnia, and some people have a specific problem called the sleep apnea syndrome, which is often signaled by snoring and breaks in snoring. Episodes of apnea are actually breaks in breathing during sleep. Over time, these sleep disturbances can lead to "day-night reversal" (insomnia at night, sleepiness during the day), headache, depression, and decreased alertness. The apnea may be related to the effects of advanced kidney failure on the control of breathing. Treatments that work with people who have sleep apnea, whether they have kidney failure or not, include losing weight, changing sleeping position, and wearing a mask that gently pumps air continuously into the nose (nasal continuous positive airway pressure, or CPAP). Many people on dialysis have trouble sleeping at night because of aching, uncomfortable, jittery, or "restless" legs. You may feel a strong impulse to kick or thrash your legs. Kicking may occur during sleep and disturb a bed partner throughout the night. The causes of restless legs may include nerve damage or chemical imbalances. Moderate exercise during the day may help, but exercising a few hours before bedtime can make it worse. People with restless leg syndrome should reduce or avoid caffeine, alcohol, and tobacco; some people also find relief with massages or warm baths. A class of drugs called benzodiazepines, often used to treat insomnia or anxiety, may help as well. These prescription drugs include Klonopin, Librium, Valium, and Halcion. A newer and sometimes more effective therapy is levodopa (Sinemet), a drug used to treat Parkinson's disease. Sleep disorders may seem unimportant, but they can impair your quality of life. Don't hesitate to raise these problems with your nurse, doctor, or social worker. Amyloidosis Dialysis-related amyloidosis (DRA) is common in people who have been on dialysis for more than 5 years. DRA develops when proteins in the blood deposit on joints and tendons, causing pain, stiffness, and fluid in the joints, as is the case with arthritis. Working kidneys filter out these proteins, but dialysis filters are not as effective. For more information, see the NIDDK fact sheet Amyloidosis and Kidney Disease.

### Question: how can the spread of visa and vrsa be prevented? ### Answer:

On this Page General Information about VISA/VRSA What is Staphylococcus aureus? How do VISA and VRSA get their names? What should a patient do if they suspect they have a Staph, MRSA, VISA, or VRSA infection? Are VISA and VRSA infections treatable? How can the spread of VISA and VRSA be prevented? What should a person do if a family member or close friend has VISA or VRSA? What is CDC doing to address VISA and VRSA? Recommendations and Guidelines General Information about VISA/VRSA For more images of this bacterium, search the Public Health Image Library Vancomycin [van−kō−mī−sin]-intermediate Staphylococcus aureus [staff−u−lu−kaw−kus aw−ree−us] (also called VISA) and Vancomycin-resistant Staphylococcus aureus (also called VRSA) are specific types of antimicrobial-resistant bacteria. However, as of October 2010, all VISA and VRSA isolates have been susceptible to other Food and Drug Administration (FDA)-approved drugs. Persons who develop this type of staph infection may have underlying health conditions (such as diabetes and kidney disease), tubes going into their bodies (such as catheters), previous infections with methicillin-resistant Staphylococcus aureus (MRSA), and recent exposure to vancomycin and other antimicrobial agents. What is Staphylococcus aureus? Staphylococcus aureus is a bacterium commonly found on the skin and in the nose of about 30% of individuals. Most of the time, staph does not cause any harm. These infections can look like pimples, boils, or other skin conditions and most are able to be treated. Sometimes staph bacteria can get into the bloodstream and cause serious infections which can be fatal, including: Bacteremia or sepsis when bacteria spread to the bloodstream usually as a result of using catheters or having surgery. Pneumonia which predominantly affects people with underlying lung disease including those on mechanical ventilators. Endocarditis (infection of the heart valves) which can lead to heart failure. Osteomyelitis (bone infection) which can be caused by staph bacteria traveling in the bloodstream or put there by direct contact such as following trauma (puncture wound of foot or intravenous (IV) drug abuse). Top of page How do VISA and VRSA get their names? Staph bacteria are classified as VISA or VRSA based on laboratory tests. Laboratories perform tests to determine if staph bacteria are resistant to antimicrobial agents that might be used for treatment of infections. For vancomycin and other antimicrobial agents, laboratories determine how much of the agent it requires to inhibit the growth of the organism in a test tube. The result of the test is usually expressed as a minimum inhibitory concentration (MIC) or the minimum amount of antimicrobial agent that inhibits bacterial growth in the test tube. Therefore, staph bacteria are classified as VISA if the MIC for vancomycin is 4-8µg/ml, and classified as VRSA if the vancomycin MIC is ≥16µg/ml. Top of page What should a patient do if they suspect they have a staph, MRSA, VISA, or VRSA infection? See a healthcare provider. Top of page Are VISA and VRSA infections treatable? Yes. As of October 2010, all VISA and VRSA isolates have been susceptible to several Food and Drug Administration (FDA)-approved drugs. Top of page How can the spread of VISA and VRSA be prevented? Use of appropriate infection control practices (such as wearing gloves before and after contact with infectious body substances and adherence to hand hygiene) by healthcare personnel can reduce the spread of VISA and VRSA. Top of page What should a person do if a family member or close friend has VISA or VRSA? VISA and VRSA are types of antibiotic-resistant staph bacteria. Therefore, as with all staph bacteria, spread occurs among people having close physical contact with infected patients or contaminated material, such as bandages. Persons having close physical contact with infected patients while they are outside of the healthcare setting should: (1) keep their hands clean by washing thoroughly with soap and water, and (2) avoid contact with other people's wounds or material contaminated from wounds. If they go to the hospital to visit a friend or family member who is infected with VISA or VRSA , they must follow the hospital's recommended precautions. Top of page What is CDC doing to address VISA and VRSA? In addition to providing guidance for clinicians and infection control personnel, CDC is also working with state and local health agencies, healthcare facilities, and clinical microbiology laboratories to ensure that laboratories are using proper methods to detect VISA and VRSA. Top of page Recommendations and Guidelines CDC issued a Clinical Reminder, in 2010, which serves as a reminder about the important role of clinical laboratories in the diagnosis of VRSA cases to ensure prompt recognition, isolation, and management by infection control personnel. Investigation and Control of Vancomycin-Resistant Staphylococcus aureus (VRSA) [PDF - 300 KB] - This document is a guide to conducting a public health investigation of patients from whom vancomycin-resistant Staphylococcus aureus (VRSA, vancomycin MIC ≥ 16 µg/ml) has been isolated. The information reflects the experience gained from field investigations of the first fourteen VRSA identified in the United States. Top of page

### Question: what is cdc doing to address visa and vrsa? ### Answer:

On this Page General Information about VISA/VRSA What is Staphylococcus aureus? How do VISA and VRSA get their names? What should a patient do if they suspect they have a Staph, MRSA, VISA, or VRSA infection? Are VISA and VRSA infections treatable? How can the spread of VISA and VRSA be prevented? What should a person do if a family member or close friend has VISA or VRSA? What is CDC doing to address VISA and VRSA? Recommendations and Guidelines General Information about VISA/VRSA For more images of this bacterium, search the Public Health Image Library Vancomycin [van−kō−mī−sin]-intermediate Staphylococcus aureus [staff−u−lu−kaw−kus aw−ree−us] (also called VISA) and Vancomycin-resistant Staphylococcus aureus (also called VRSA) are specific types of antimicrobial-resistant bacteria. However, as of October 2010, all VISA and VRSA isolates have been susceptible to other Food and Drug Administration (FDA)-approved drugs. Persons who develop this type of staph infection may have underlying health conditions (such as diabetes and kidney disease), tubes going into their bodies (such as catheters), previous infections with methicillin-resistant Staphylococcus aureus (MRSA), and recent exposure to vancomycin and other antimicrobial agents. What is Staphylococcus aureus? Staphylococcus aureus is a bacterium commonly found on the skin and in the nose of about 30% of individuals. Most of the time, staph does not cause any harm. These infections can look like pimples, boils, or other skin conditions and most are able to be treated. Sometimes staph bacteria can get into the bloodstream and cause serious infections which can be fatal, including: Bacteremia or sepsis when bacteria spread to the bloodstream usually as a result of using catheters or having surgery. Pneumonia which predominantly affects people with underlying lung disease including those on mechanical ventilators. Endocarditis (infection of the heart valves) which can lead to heart failure. Osteomyelitis (bone infection) which can be caused by staph bacteria traveling in the bloodstream or put there by direct contact such as following trauma (puncture wound of foot or intravenous (IV) drug abuse). Top of page How do VISA and VRSA get their names? Staph bacteria are classified as VISA or VRSA based on laboratory tests. Laboratories perform tests to determine if staph bacteria are resistant to antimicrobial agents that might be used for treatment of infections. For vancomycin and other antimicrobial agents, laboratories determine how much of the agent it requires to inhibit the growth of the organism in a test tube. The result of the test is usually expressed as a minimum inhibitory concentration (MIC) or the minimum amount of antimicrobial agent that inhibits bacterial growth in the test tube. Therefore, staph bacteria are classified as VISA if the MIC for vancomycin is 4-8µg/ml, and classified as VRSA if the vancomycin MIC is ≥16µg/ml. Top of page What should a patient do if they suspect they have a staph, MRSA, VISA, or VRSA infection? See a healthcare provider. Top of page Are VISA and VRSA infections treatable? Yes. As of October 2010, all VISA and VRSA isolates have been susceptible to several Food and Drug Administration (FDA)-approved drugs. Top of page How can the spread of VISA and VRSA be prevented? Use of appropriate infection control practices (such as wearing gloves before and after contact with infectious body substances and adherence to hand hygiene) by healthcare personnel can reduce the spread of VISA and VRSA. Top of page What should a person do if a family member or close friend has VISA or VRSA? VISA and VRSA are types of antibiotic-resistant staph bacteria. Therefore, as with all staph bacteria, spread occurs among people having close physical contact with infected patients or contaminated material, such as bandages. Persons having close physical contact with infected patients while they are outside of the healthcare setting should: (1) keep their hands clean by washing thoroughly with soap and water, and (2) avoid contact with other people's wounds or material contaminated from wounds. If they go to the hospital to visit a friend or family member who is infected with VISA or VRSA , they must follow the hospital's recommended precautions. Top of page What is CDC doing to address VISA and VRSA? In addition to providing guidance for clinicians and infection control personnel, CDC is also working with state and local health agencies, healthcare facilities, and clinical microbiology laboratories to ensure that laboratories are using proper methods to detect VISA and VRSA. Top of page Recommendations and Guidelines CDC issued a Clinical Reminder, in 2010, which serves as a reminder about the important role of clinical laboratories in the diagnosis of VRSA cases to ensure prompt recognition, isolation, and management by infection control personnel. Investigation and Control of Vancomycin-Resistant Staphylococcus aureus (VRSA) [PDF - 300 KB] - This document is a guide to conducting a public health investigation of patients from whom vancomycin-resistant Staphylococcus aureus (VRSA, vancomycin MIC ≥ 16 µg/ml) has been isolated. The information reflects the experience gained from field investigations of the first fourteen VRSA identified in the United States. Top of page

### Question: Who is at risk for Overweight and Obesity? ? ### Answer:

Being overweight or obese isn't a cosmetic problem. These conditions greatly raise your risk for other health problems. Overweight and Obesity-Related Health Problems in Adults Coronary Heart Disease As your body mass index rises, so does your risk for coronary heart disease (CHD). CHD is a condition in which a waxy substance called plaque (plak) builds up inside the coronary arteries. These arteries supply oxygen-rich blood to your heart. Plaque can narrow or block the coronary arteries and reduce blood flow to the heart muscle. This can cause angina (an-JI-nuh or AN-juh-nuh) or a heart attack. (Angina is chest pain or discomfort.) Obesity also can lead to heart failure. This is a serious condition in which your heart can't pump enough blood to meet your body's needs. High Blood Pressure Blood pressure is the force of blood pushing against the walls of the arteries as theheart pumps blood. If this pressure rises and stays high over time, it can damage the body in many ways. Your chances of having high blood pressure are greater if you're overweight or obese. Stroke Being overweight or obese can lead to a buildup of plaque in your arteries. Eventually, an area of plaque can rupture, causing a blood clot to form. If the clot is close to your brain, it can block the flow of blood and oxygen to your brain and cause a stroke. The risk of having a stroke rises as BMI increases. Type 2 Diabetes Diabetes is a disease in which the body's blood glucose, or blood sugar, level is too high. Normally, the body breaks down food into glucose and then carries it to cells throughout the body. The cells use a hormone called insulin to turn the glucose into energy. In type 2 diabetes, the body's cells don't use insulin properly. At first, the body reacts by making more insulin. Over time, however, the body can't make enough insulin to control its blood sugar level. Diabetes is a leading cause of early death, CHD, stroke, kidney disease, and blindness. Most people who have type 2 diabetes are overweight. Abnormal Blood Fats If you're overweight or obese, you're at increased risk of having abnormal levels of blood fats. These include high levels of triglycerides and LDL ("bad") cholesterol and low levels of HDL ("good") cholesterol. Abnormal levels of these blood fats are a risk factor for CHD. For more information about triglycerides and LDL and HDL cholesterol, go to the Health Topics High Blood Cholesterol article. Metabolic Syndrome Metabolic syndrome is the name for a group of risk factors that raises your risk for heart disease and other health problems, such as diabetes and stroke. You can develop any one of these risk factors by itself, but they tend to occur together. A diagnosis of metabolic syndrome is made if you have at least three of the following risk factors: A large waistline. This is called abdominal obesity or "having an apple shape." Having extra fat in the waist area is a greater risk factor for CHD than having extra fat in other parts of the body, such as on the hips. A higher than normal triglyceride level (or you're on medicine to treat high triglycerides). A lower than normal HDL cholesterol level (or you're on medicine to treat low HDL cholesterol). Higher than normal blood pressure (or you're on medicine to treat high blood pressure). Higher than normal fasting blood sugar (or you're on medicine to treat diabetes). Cancer Being overweight or obese raises your risk for colon, breast, endometrial, and gallbladder cancers. Osteoarthritis Osteoarthritis is a common joint problem of the knees, hips, and lower back. The condition occurs if the tissue that protects the joints wears away. Extra weight can put more pressure and wear on joints, causing pain. Sleep Apnea Sleep apnea is a common disorder in which you have one or more pauses in breathing or shallow breaths while you sleep. A person who has sleep apnea may have more fat stored around the neck. This can narrow the airway, making it hard to breathe. Obesity Hypoventilation Syndrome Obesity hypoventilation syndrome (OHS) is a breathing disorder that affects some obese people. In OHS, poor breathing results in too much carbon dioxide (hypoventilation) and too little oxygen in the blood (hypoxemia). OHS can lead to serious health problems and may even cause death. Reproductive Problems Obesity can cause menstrual issues and infertility in women. Gallstones Gallstones are hard pieces of stone-like material that form in the gallbladder. They're mostly made of cholesterol. Gallstones can cause stomach or back pain. People who are overweight or obese are at increased risk of having gallstones. Also, being overweight may result in an enlarged gallbladder that doesn't work well. Overweight and Obesity-Related Health Problems in Children and Teens Overweight and obesity also increase the health risks for children and teens. Type2 diabetes once was rare in American children, but an increasing number of children are developing the disease. Also, overweight children are more likely to become overweight or obese as adults, with the same disease risks.

### Question: what is staphylococcus aureus? ### Answer:

On this Page General Information about VISA/VRSA What is Staphylococcus aureus? How do VISA and VRSA get their names? What should a patient do if they suspect they have a Staph, MRSA, VISA, or VRSA infection? Are VISA and VRSA infections treatable? How can the spread of VISA and VRSA be prevented? What should a person do if a family member or close friend has VISA or VRSA? What is CDC doing to address VISA and VRSA? Recommendations and Guidelines General Information about VISA/VRSA For more images of this bacterium, search the Public Health Image Library Vancomycin [van−kō−mī−sin]-intermediate Staphylococcus aureus [staff−u−lu−kaw−kus aw−ree−us] (also called VISA) and Vancomycin-resistant Staphylococcus aureus (also called VRSA) are specific types of antimicrobial-resistant bacteria. However, as of October 2010, all VISA and VRSA isolates have been susceptible to other Food and Drug Administration (FDA)-approved drugs. Persons who develop this type of staph infection may have underlying health conditions (such as diabetes and kidney disease), tubes going into their bodies (such as catheters), previous infections with methicillin-resistant Staphylococcus aureus (MRSA), and recent exposure to vancomycin and other antimicrobial agents. What is Staphylococcus aureus? Staphylococcus aureus is a bacterium commonly found on the skin and in the nose of about 30% of individuals. Most of the time, staph does not cause any harm. These infections can look like pimples, boils, or other skin conditions and most are able to be treated. Sometimes staph bacteria can get into the bloodstream and cause serious infections which can be fatal, including: Bacteremia or sepsis when bacteria spread to the bloodstream usually as a result of using catheters or having surgery. Pneumonia which predominantly affects people with underlying lung disease including those on mechanical ventilators. Endocarditis (infection of the heart valves) which can lead to heart failure. Osteomyelitis (bone infection) which can be caused by staph bacteria traveling in the bloodstream or put there by direct contact such as following trauma (puncture wound of foot or intravenous (IV) drug abuse). Top of page How do VISA and VRSA get their names? Staph bacteria are classified as VISA or VRSA based on laboratory tests. Laboratories perform tests to determine if staph bacteria are resistant to antimicrobial agents that might be used for treatment of infections. For vancomycin and other antimicrobial agents, laboratories determine how much of the agent it requires to inhibit the growth of the organism in a test tube. The result of the test is usually expressed as a minimum inhibitory concentration (MIC) or the minimum amount of antimicrobial agent that inhibits bacterial growth in the test tube. Therefore, staph bacteria are classified as VISA if the MIC for vancomycin is 4-8µg/ml, and classified as VRSA if the vancomycin MIC is ≥16µg/ml. Top of page What should a patient do if they suspect they have a staph, MRSA, VISA, or VRSA infection? See a healthcare provider. Top of page Are VISA and VRSA infections treatable? Yes. As of October 2010, all VISA and VRSA isolates have been susceptible to several Food and Drug Administration (FDA)-approved drugs. Top of page How can the spread of VISA and VRSA be prevented? Use of appropriate infection control practices (such as wearing gloves before and after contact with infectious body substances and adherence to hand hygiene) by healthcare personnel can reduce the spread of VISA and VRSA. Top of page What should a person do if a family member or close friend has VISA or VRSA? VISA and VRSA are types of antibiotic-resistant staph bacteria. Therefore, as with all staph bacteria, spread occurs among people having close physical contact with infected patients or contaminated material, such as bandages. Persons having close physical contact with infected patients while they are outside of the healthcare setting should: (1) keep their hands clean by washing thoroughly with soap and water, and (2) avoid contact with other people's wounds or material contaminated from wounds. If they go to the hospital to visit a friend or family member who is infected with VISA or VRSA , they must follow the hospital's recommended precautions. Top of page What is CDC doing to address VISA and VRSA? In addition to providing guidance for clinicians and infection control personnel, CDC is also working with state and local health agencies, healthcare facilities, and clinical microbiology laboratories to ensure that laboratories are using proper methods to detect VISA and VRSA. Top of page Recommendations and Guidelines CDC issued a Clinical Reminder, in 2010, which serves as a reminder about the important role of clinical laboratories in the diagnosis of VRSA cases to ensure prompt recognition, isolation, and management by infection control personnel. Investigation and Control of Vancomycin-Resistant Staphylococcus aureus (VRSA) [PDF - 300 KB] - This document is a guide to conducting a public health investigation of patients from whom vancomycin-resistant Staphylococcus aureus (VRSA, vancomycin MIC ≥ 16 µg/ml) has been isolated. The information reflects the experience gained from field investigations of the first fourteen VRSA identified in the United States. Top of page

### Question: What are the symptoms of Ehlers-Danlos syndrome, vascular type ? ### Answer:

What are the signs and symptoms of Ehlers-Danlos syndrome, vascular type? The signs and symptoms of Ehlers-Danlos syndrome (EDS), vascular type vary but may include: Fragile tissues (including arteries, muscles and internal organs) that are prone to rupture Thin, translucent skin Characteristic facial appearance (thin lips, small chin, thin nose, large eyes) Acrogeria (premature aging of the skin of the hands and feet) Hypermobility of small joints (i.e. fingers and toes) Early-onset varicose veins Pneumothorax Easy bruising Joint dislocations and subluxations (partial dislocation) Congenital dislocation of the hips Congenital clubfoot Receding gums The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome, vascular type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of coagulation 90% Abnormality of the eyelashes 90% Abnormality of the hip bone 90% Abnormality of the mitral valve 90% Abnormality of the pleura 90% Acrocyanosis 90% Aneurysm 90% Aortic dissection 90% Aplasia/Hypoplasia of the earlobes 90% Aplasia/Hypoplasia of the eyebrow 90% Bladder diverticulum 90% Bruising susceptibility 90% Carious teeth 90% Cognitive impairment 90% Cryptorchidism 90% Epicanthus 90% Flexion contracture 90% Gastrointestinal infarctions 90% Hypermelanotic macule 90% Hypertelorism 90% Hypokalemia 90% Low-set, posteriorly rotated ears 90% Melanocytic nevus 90% Pectus excavatum 90% Peripheral arteriovenous fistula 90% Prematurely aged appearance 90% Short stature 90% Sprengel anomaly 90% Telecanthus 90% Thin skin 90% Glaucoma 50% Malar flattening 50% Premature birth 50% Proptosis 50% Respiratory insufficiency 50% Talipes 50% Telangiectasia of the skin 50% Thin vermilion border 50% Venous insufficiency 50% Abnormality of hair texture 7.5% Abnormality of the intestine 7.5% Abnormality of the palate 7.5% Abnormality of the pulmonary artery 7.5% Abnormality of the pupil 7.5% Alopecia 7.5% Aplasia/Hypoplasia of the abdominal wall musculature 7.5% Apnea 7.5% Arterial dissection 7.5% Atypical scarring of skin 7.5% Blue sclerae 7.5% Cerebral ischemia 7.5% Cutis laxa 7.5% Cystocele 7.5% Decreased corneal thickness 7.5% Deeply set eye 7.5% Dilatation of the ascending aorta 7.5% Displacement of the external urethral meatus 7.5% Gingival overgrowth 7.5% Gingivitis 7.5% Hematuria 7.5% Joint dislocation 7.5% Joint hypermobility 7.5% Microdontia 7.5% Migraine 7.5% Narrow nasal bridge 7.5% Osteoarthritis 7.5% Osteolysis 7.5% Premature loss of primary teeth 7.5% Ptosis 7.5% Reduced consciousness/confusion 7.5% Renovascular hypertension 7.5% Trismus 7.5% Umbilical hernia 7.5% Uterine rupture 7.5% Vertigo 7.5% Abnormality of the urinary system - Absent earlobe - Acroosteolysis (feet) - Alopecia of scalp - Autosomal dominant inheritance - Cerebral aneurysm - Cigarette-paper scars - Fragile skin - Hemoptysis - Hypermobility of distal interphalangeal joints - Inguinal hernia - Keratoconus - Mitral valve prolapse - Molluscoid pseudotumors - Osteolytic defects of the phalanges of the hand - Periodontitis - Premature delivery because of cervical insufficiency or membrane fragility - Premature loss of teeth - Spontaneous pneumothorax - Talipes equinovarus - Uterine prolapse - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

### Question: What is (are) ? ### Answer:

On this Page General Information about VISA/VRSA What is Staphylococcus aureus? How do VISA and VRSA get their names? What should a patient do if they suspect they have a Staph, MRSA, VISA, or VRSA infection? Are VISA and VRSA infections treatable? How can the spread of VISA and VRSA be prevented? What should a person do if a family member or close friend has VISA or VRSA? What is CDC doing to address VISA and VRSA? Recommendations and Guidelines General Information about VISA/VRSA For more images of this bacterium, search the Public Health Image Library Vancomycin [van−kō−mī−sin]-intermediate Staphylococcus aureus [staff−u−lu−kaw−kus aw−ree−us] (also called VISA) and Vancomycin-resistant Staphylococcus aureus (also called VRSA) are specific types of antimicrobial-resistant bacteria. However, as of October 2010, all VISA and VRSA isolates have been susceptible to other Food and Drug Administration (FDA)-approved drugs. Persons who develop this type of staph infection may have underlying health conditions (such as diabetes and kidney disease), tubes going into their bodies (such as catheters), previous infections with methicillin-resistant Staphylococcus aureus (MRSA), and recent exposure to vancomycin and other antimicrobial agents. What is Staphylococcus aureus? Staphylococcus aureus is a bacterium commonly found on the skin and in the nose of about 30% of individuals. Most of the time, staph does not cause any harm. These infections can look like pimples, boils, or other skin conditions and most are able to be treated. Sometimes staph bacteria can get into the bloodstream and cause serious infections which can be fatal, including: Bacteremia or sepsis when bacteria spread to the bloodstream usually as a result of using catheters or having surgery. Pneumonia which predominantly affects people with underlying lung disease including those on mechanical ventilators. Endocarditis (infection of the heart valves) which can lead to heart failure. Osteomyelitis (bone infection) which can be caused by staph bacteria traveling in the bloodstream or put there by direct contact such as following trauma (puncture wound of foot or intravenous (IV) drug abuse). Top of page How do VISA and VRSA get their names? Staph bacteria are classified as VISA or VRSA based on laboratory tests. Laboratories perform tests to determine if staph bacteria are resistant to antimicrobial agents that might be used for treatment of infections. For vancomycin and other antimicrobial agents, laboratories determine how much of the agent it requires to inhibit the growth of the organism in a test tube. The result of the test is usually expressed as a minimum inhibitory concentration (MIC) or the minimum amount of antimicrobial agent that inhibits bacterial growth in the test tube. Therefore, staph bacteria are classified as VISA if the MIC for vancomycin is 4-8µg/ml, and classified as VRSA if the vancomycin MIC is ≥16µg/ml. Top of page What should a patient do if they suspect they have a staph, MRSA, VISA, or VRSA infection? See a healthcare provider. Top of page Are VISA and VRSA infections treatable? Yes. As of October 2010, all VISA and VRSA isolates have been susceptible to several Food and Drug Administration (FDA)-approved drugs. Top of page How can the spread of VISA and VRSA be prevented? Use of appropriate infection control practices (such as wearing gloves before and after contact with infectious body substances and adherence to hand hygiene) by healthcare personnel can reduce the spread of VISA and VRSA. Top of page What should a person do if a family member or close friend has VISA or VRSA? VISA and VRSA are types of antibiotic-resistant staph bacteria. Therefore, as with all staph bacteria, spread occurs among people having close physical contact with infected patients or contaminated material, such as bandages. Persons having close physical contact with infected patients while they are outside of the healthcare setting should: (1) keep their hands clean by washing thoroughly with soap and water, and (2) avoid contact with other people's wounds or material contaminated from wounds. If they go to the hospital to visit a friend or family member who is infected with VISA or VRSA , they must follow the hospital's recommended precautions. Top of page What is CDC doing to address VISA and VRSA? In addition to providing guidance for clinicians and infection control personnel, CDC is also working with state and local health agencies, healthcare facilities, and clinical microbiology laboratories to ensure that laboratories are using proper methods to detect VISA and VRSA. Top of page Recommendations and Guidelines CDC issued a Clinical Reminder, in 2010, which serves as a reminder about the important role of clinical laboratories in the diagnosis of VRSA cases to ensure prompt recognition, isolation, and management by infection control personnel. Investigation and Control of Vancomycin-Resistant Staphylococcus aureus (VRSA) [PDF - 300 KB] - This document is a guide to conducting a public health investigation of patients from whom vancomycin-resistant Staphylococcus aureus (VRSA, vancomycin MIC ≥ 16 µg/ml) has been isolated. The information reflects the experience gained from field investigations of the first fourteen VRSA identified in the United States. Top of page

### Question: How to prevent Anal Cancer ? ### Answer:

Key Points - Avoiding risk factors and increasing protective factors may help prevent cancer. - The following are risk factors for anal cancer: - Anal HPV infection - Certain medical conditions - History of cervical, vaginal, or vulvar cancer - HIV infection/AIDS - Immunosuppression - Certain sexual practices - Cigarette smoking - The following protective factor decreases the risk of anal cancer: - HPV vaccine - It is not clear if the following protective factor decreases the risk of anal cancer: - Condom use - Cancer prevention clinical trials are used to study ways to prevent cancer. - New ways to prevent anal cancer are being studied in clinical trials. Avoiding risk factors and increasing protective factors may help prevent cancer. Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. Talk to your doctor or other health care professional about how you might lower your risk of cancer. The following are risk factors for anal cancer: Anal HPV infection Being infected with human papillomavirus (HPV) is the main risk factor for anal cancer. Being infected with HPV can lead to squamous cell carcinoma of the anus, the most common type of anal cancer. About nine out of every ten cases of anal cancer are found in patients with anal HPV infection. Patients with healthy immune systems are usually able to fight HPV infections. Patients with weakened immune systems who are infected with HPV have a higher risk of anal cancer. Certain medical conditions History of cervical, vaginal, or vulvar cancer Cervical cancer, vaginal cancer, and vulvar cancer are related to HPV infection. Women who have had cervical, vaginal, or vulvar cancer have a higher risk of anal cancer. HIV infection/AIDS Being infected with human immunodeficiency virus (HIV) is a strong risk factor for anal cancer. HIV is the cause of acquired immunodeficiency syndrome (AIDS). HIV weakens the body's immune system and its ability to fight infection. HPV infection of the anus is common among patients who are HIV-positive. The risk of anal cancer is higher in men who are HIV-positive and have sex with men compared with men who are HIV-negative and have sex with men. Women who are HIV-positive also have an increased risk of anal cancer compared with women who are HIV-negative. Studies show that intravenous drug use or cigarette smoking may further increase the risk of anal cancer in patients who are HIV-positive. Immunosuppression Immunosuppression is a condition that weakens the body's immune system and its ability to fight infections and other diseases. Chronic (long-term) immunosuppression may increase the risk of anal cancer because it lowers the body's ability to fight HPV infection. Patients who have an organ transplant and receive immunosuppressive medicine to prevent organ rejection have an increased risk of anal cancer. Having an autoimmune disorder such as Crohn disease or psoriasis may increase the risk of anal cancer. It is not clear if the increased risk is due to the autoimmune condition, the treatment for the condition, or a combination of both. Certain sexual practices The following sexual practices increase the risk of anal cancer because they increase the chance of being infected with HPV: - Having receptive anal intercourse (anal sex). - Having many sexual partners. - Sex between men. Men and women who have a history of anal warts or other sexually transmitted diseases also have an increased risk of anal cancer. Cigarette smoking Studies show that cigarette smoking increases the risk of anal cancer. Studies also show that current smokers have a higher risk of anal cancer than smokers who have quit or people who have never smoked. The following protective factor decreases the risk of anal cancer: HPV vaccine The human papillomavirus (HPV) vaccine is used to prevent anal cancer, cervical cancer, vulvar cancer, and vaginal cancer caused by HPV. It is also used to prevent lesions caused by HPV that may become cancer in the future. Studies show that being vaccinated against HPV lowers the risk of anal cancer. The vaccine may work best when it is given before a person is exposed to HPV. It is not clear if the following protective factor decreases the risk of anal cancer: Condom use It is not known if the use of condoms protects against anal HPV infection. This is because not enough studies have been done to prove this. Cancer prevention clinical trials are used to study ways to prevent cancer. Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are conducted with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include eating fruits and vegetables, exercising, quitting smoking, or taking certain medicines, vitamins, minerals, or food supplements. New ways to prevent anal cancer are being studied in clinical trials. Clinical trials are taking place in many parts of the country. Information about clinical trials for anal cancer prevention can be found in the Clinical Trials section of the NCI Web site.

### Question: what research (or clinical trials) is being done for Depression ? ### Answer:

Treating Older Adults Studies show that the majority of older adults with depression improve when they receive treatment with an antidepressant, psychotherapy or a combination of both. In addition, research has indicated that treating depression in older adults often improves the outcomes of co-existing medical conditions. Some research has also suggested that the risk for developing depression in people who have had a stroke may be reduced if they receive preventative treatment with an antidepressant or talk therapy. Special Considerations However, there are some special considerations that doctors must take into account when treating older adults. The commonly prescribed medications for depression may not work well for some older adults because they may interact unfavorably with other medications being taken for other conditions. Some older adults with depression may also have some problems thinking clearly, and these individuals often respond poorly to the drugs. Which Form of Treatment Is Most Effective? Many older adults prefer to get counseling or psychotherapy for depression rather than add more medications to those they are already taking for other conditions. Research suggests that for older adults, psychotherapy is just as likely to be an effective first treatment for depression as taking an antidepressant. There is a great deal of evidence indicating that cognitive-behavioral therapy (CBT), including a version called problem solving therapy, may be an especially useful type of psychotherapy for treating older adults and improving their quality of life. However, a practical issue to consider when deciding on treatment is that it may be harder for many older people to find or be able to travel to meetings with a well-trained psychotherapist than to get a prescription for antidepressant medication from their primary care doctor. Also, some research suggests that treatment with medication may be more effective if the depression is quite severe or if the older adult is coping with other serious illnesses. Overall, research has suggested that, when possible, a combination of medication and psychotherapy treatment is likely to be most effective in treating depression in older adults and, in particular, for reducing the number of new episodes. Late-Life Depression is Often Undiagnosed Despite progress in treatment research, late-life depression often goes undiagnosed or is inadequately treated in older adults. In fact, several studies have found that up to 75 percent of older adults who die by suicide had visited their primary care doctors within one month of their deaths. Collaborative or comprehensive care may lead to better treatment results. Collaborative Care The Prevention of Suicide in Primary Care Elderly: Collaborative Trial (PROSPECT) offered antidepressant medication and/or psychotherapy to depressed older adults, along with a "care manager" -- a social worker, nurse or psychologist -- who monitored their symptoms, side effects of medication, and progress. The study found that those participants who had case-managed care got better more quickly, had longer periods without depression, and in general responded better to treatment than those who did not have case-managed care. Another study called the Improving Mood: Promoting Access to Collaborative Treatment (IMPACT) trial also found that collaborative care was more effective than usual care, and was less expensive over the long run as well. Improving Diagnosis of Depression Several studies are looking at ways to help older adults get better access to depression treatment. One is developing and testing an education and intervention program to help primary care clinics and providers identify and treat late-life depression. Another study found that depressed older adults who had a "care manager" monitor their symptoms, side effects, and progress got better more quickly -- and stayed better longer -- than those who did not have case-managed care. Still other projects are investigating ways of improving older adults engagement in and ability to follow treatment plans for depression. Researchers are also looking at ways to - better understand the relationship between other medical illnesses and depression - integrate treatment for depression with treatments for other medical conditions a person may have - produce a quicker response to treatment - develop new methods for delivering treatment to those who are homebound, unable to move around without assistance, or who live in rural areas. (e.g., via use of telephonic or internet-assisted therapies) - help prevent depression by keeping it from developing or recurring in those at risk or by preventing those with milder symptoms from progressing to more severe episodes of depression. better understand the relationship between other medical illnesses and depression integrate treatment for depression with treatments for other medical conditions a person may have produce a quicker response to treatment develop new methods for delivering treatment to those who are homebound, unable to move around without assistance, or who live in rural areas. (e.g., via use of telephonic or internet-assisted therapies) help prevent depression by keeping it from developing or recurring in those at risk or by preventing those with milder symptoms from progressing to more severe episodes of depression. Findings from these and other studies will provide important information for doctors to treat late-life depression. In a Crisis? Get Help! If you are in a crisis... If you are thinking about harming yourself or attempting suicide, tell someone who can help immediately. - Call your doctor. - Call 911 for emergency services. - Go to the nearest hospital emergency room. - Call the toll-free, 24-hour hotline of the National Suicide Prevention Lifeline at 1-800-273-TALK (1-800-273-8255); TTY: 1-800-799-4TTY (4889) to be connected to a trained counselor at a suicide crisis center nearest you. Call your doctor. Call 911 for emergency services. Go to the nearest hospital emergency room. Call the toll-free, 24-hour hotline of the National Suicide Prevention Lifeline at 1-800-273-TALK (1-800-273-8255); TTY: 1-800-799-4TTY (4889) to be connected to a trained counselor at a suicide crisis center nearest you.

### Question: What to do for Gastroparesis ? ### Answer:

Changing eating habits can sometimes help control the severity of gastroparesis symptoms. A health care provider may suggest eating six small meals a day instead of three large ones. If less food enters the stomach each time a person eats, the stomach may not become overly full, allowing it to empty more easily. Chewing food well, drinking noncarbonated liquids with a meal, and walking or sitting for 2 hours after a mealinstead of lying downmay assist with gastric emptying. A health care provider may also recommend avoiding high-fat and fibrous foods. Fat naturally slows digestion and some raw vegetables and fruits are more difficult to digest than other foods. Some foods, such as oranges and broccoli, contain fibrous parts that do not digest well. People with gastroparesis should minimize their intake of large portions of these foods because the undigested parts may remain in the stomach too long. Sometimes, the undigested parts form bezoars. When a person has severe symptoms, a liquid or pured diet may be prescribed. As liquids tend to empty more quickly from the stomach, some people may find a pured diet helps improve symptoms. Pured fresh or cooked fruits and vegetables can be incorporated into shakes and soups. A health care provider may recommend a dietitian to help a person plan meals that minimize symptoms and ensure all nutritional needs are met. When the most extreme cases of gastroparesis lead to severe nausea, vomiting, and dehydration, urgent care may be required at a medical facility where IV fluids can be given. Medications Several prescription medications are available to treat gastroparesis. A combination of medications may be used to find the most effective treatment. Metoclopramide (Reglan). This medication stimulates stomach muscle contractions to help with gastric emptying. Metoclopramide also helps reduce nausea and vomiting. The medication is taken 20 to 30 minutes before meals and at bedtime. Possible side effects of metoclopramide include fatigue, sleepiness, and depression. Currently, this is the only medication approved by the FDA for treatment of gastroparesis. However, the FDA has placed a black box warning on this medication because of rare reports of it causing an irreversible neurologic side effect called tardive dyskinesiaa disorder that affects movement. Erythromycin. This antibiotic, prescribed at low doses, may improve gastric emptying. Like metaclopramide, erythromycin works by increasing the contractions that move food through the stomach. Possible side effects of erythromycin include nausea, vomiting, and abdominal cramps. Other medications. Other medications may be used to treat symptoms and problems related to gastroparesis. For example, medications known as antiemetics are used to help control nausea and vomiting. Botulinum Toxin Botulinum toxin is a nerve blocking agent also known as Botox. After passing an endoscope into the stomach, a health care provider injects the Botox into the pylorus, the opening from the stomach into the duodenum. Botox is supposed to help keep the pylorus open for longer periods of time and improve symptoms of gastroparesis. Although some initial research trials showed modest improvement in gastroparesis symptoms and the rate of gastric emptying following the injections, other studies have failed to show the same degree of effectiveness of the Botox injections.1 Gastric Electrical Stimulation This treatment alternative may be effective for some people whose nausea and vomiting do not improve with dietary changes or medications. A gastric neurostimulator is a surgically implanted battery-operated device that sends mild electrical pulses to the stomach muscles to help control nausea and vomiting. The procedure may be performed at a hospital or outpatient center by a gastroenterologist. General anesthesia may be required. The gastroenterologist makes several tiny incisions in the abdomen and inserts a laparoscopea thin tube with a tiny video camera attached. The camera sends a magnified image from inside the stomach to a video monitor, giving the gastroenterologist a close-up view of the tissues. Once implanted, the settings on the battery-operated device can be adjusted to determine the settings that best control symptoms. Jejunostomy If medications and dietary changes dont work, and the person is losing weight or requires frequent hospitalization for dehydration, a health care provider may recommend surgically placing a feeding tube through the abdominal wall directly into a part of the small intestine called the jejunum. The surgical procedure is known as a jejunostomy. The procedure is performed by a surgeon at a hospital or outpatient center. Anesthesia is needed. The feeding tube bypasses the stomach and delivers a special liquid food with nutrients directly into the jejunum. The jejunostomy is used only when gastroparesis is extremely severe. Parenteral Nutrition When gastroparesis is so severe that dietary measures and other treatments are not helping, a health care provider may recommend parenteral nutritionan IV liquid food mixture supplied through a special tube in the chest. The procedure is performed by a surgeon at a hospital or outpatient center; anesthesia is needed. The surgeon inserts a thin, flexible tube called a catheter into a chest vein, with the catheter opening outside the skin. A bag containing liquid nutrients is attached to the catheter, and the nutrients are transported through the catheter into the chest vein and into the bloodstream. This approach is a less preferable alternative to a jejunostomy and is usually a temporary treatment to get through a difficult period of gastroparesis.

### Question: What are the stages of Hypopharyngeal Cancer ? ### Answer:

Key Points - After hypopharyngeal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the hypopharynx or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for hypopharyngeal cancer: - Stage 0 (Carcinoma in Situ) - Stage I - Stage II - Stage III - Stage IV After hypopharyngeal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the hypopharynx or to other parts of the body. The process used to find out if cancer has spread within the hypopharynx or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage of the disease in order to plan treatment. The results of some of the tests used to diagnose hypopharyngeal cancer are often also used to stage the disease. There are three ways that cancer spreads in the body. Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. Cancer may spread from where it began to other parts of the body. When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if hypopharyngeal cancer spreads to the lung, the cancer cells in the lung are actually hypopharyngeal cancer cells. The disease is metastatic hypopharyngeal cancer, not lung cancer. The following stages are used for hypopharyngeal cancer: Stage 0 (Carcinoma in Situ) In stage 0, abnormal cells are found in the lining of the hypopharynx. These abnormal cells may become cancer and spread into nearby normal tissue. Stage 0 is also called carcinoma in situ. Stage I In stage I, cancer has formed in one area of the hypopharynx only and/or the tumor is 2 centimeters or smaller. Stage II In stage II, the tumor is either: - larger than 2 centimeters but not larger than 4 centimeters and has not spread to the larynx (voice box); or - found in more than one area of the hypopharynx or in nearby tissues. Stage III In stage III, the tumor: - is larger than 4 centimeters or has spread to the larynx (voice box) or esophagus. Cancer may have spread to one lymph node on the same side of the neck as the tumor and the lymph node is 3 centimeters or smaller; or - has spread to one lymph node on the same side of the neck as the tumor and the lymph node is 3 centimeters or smaller and cancer is found: - in one area of the hypopharynx and/or is 2 centimeters or smaller; or - in more than one area of the hypopharynx or in nearby tissues, or is larger than 2 centimeters but not larger than 4 centimeters and has not spread to the larynx. Stage IV Stage IV is divided into stage IVA, IVB, and IVC as follows: - In stage IVA, cancer: - has spread to cartilage around the thyroid or trachea, the bone under the tongue, the thyroid, or nearby soft tissue. Cancer may have spread to one lymph node on the same side of the neck as the tumor and the lymph node is 3 centimeters or smaller; or - has spread to one lymph node on the same side of the neck as the tumor (the lymph node is larger than 3 centimeters but not larger than 6 centimeters) or to lymph nodes anywhere in the neck (affected lymph nodes are 6 centimeters or smaller), and one of the following is true: - cancer is found in one area of the hypopharynx and/or is 2 centimeters or smaller; or - cancer is found in more than one area of the hypopharynx or in nearby tissues, or is larger than 2 centimeters but not larger than 4 centimeters and has not spread to the larynx (voice box); or - cancer has spread to the larynx or esophagus and is more than 4 centimeters; or - cancer has spread to cartilage around the thyroid or trachea, the bone under the tongue, the thyroid, or nearby soft tissue. - In stage IVB, the tumor: - has spread to muscles around the upper part of the spinal column, the carotid artery, or the lining of the chest cavity and may have spread to lymph nodes which can be any size; or - may be any size and has spread to one or more lymph nodes that are larger than 6 centimeters. - In stage IVC, the tumor may be any size and has spread beyond the hypopharynx to other parts of the body.

### Question: How to diagnose Childhood Rhabdomyosarcoma ? ### Answer:

Diagnostic tests and a biopsy are used to detect (find) and diagnose childhood rhabdomyosarcoma. The diagnostic tests that are done depend in part on where the cancer forms. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - X-ray : An x-ray of the organs and bones inside the body, such as the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the abdomen, pelvis, or lymph nodes, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas of the body, such as the skull, brain, and lymph nodes. This procedure is also called nuclear magnetic resonance imaging (NMRI). - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - Bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones with cancer and is detected by a scanner. - Bone marrow aspiration and biopsy : The removal of bone marrow, blood, and a small piece of bone by inserting a hollow needle into the hipbone. Samples are removed from both hipbones. A pathologist views the bone marrow, blood, and bone under a microscope to look for signs of cancer. - Lumbar puncture : A procedure used to collect cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of the fluid. The sample of CSF is checked under a microscope for signs of cancer cells. This procedure is also called an LP or spinal tap. If these tests show there may be a rhabdomyosarcoma, a biopsy is done. A biopsy is the removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. Because treatment depends on the type of rhabdomyosarcoma, biopsy samples should be checked by a pathologist who has experience in diagnosing rhabdomyosarcoma. One of the following types of biopsies may be used: - Fine-needle aspiration (FNA) biopsy : The removal of tissue or fluid using a thin needle. - Core needle biopsy : The removal of tissue using a wide needle. This procedure may be guided using ultrasound, CT scan, or MRI. - Open biopsy : The removal of tissue through an incision (cut) made in the skin. - Sentinel lymph node biopsy : The removal of the sentinel lymph node during surgery. The sentinel lymph node is the first lymph node to receive lymphatic drainage from a tumor. It is the first lymph node the cancer is likely to spread to from the tumor. A radioactive substance and/or blue dye is injected near the tumor. The substance or dye flows through the lymph ducts to the lymph nodes. The first lymph node to receive the substance or dye is removed. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are not found, it may not be necessary to remove more lymph nodes. The following tests may be done on the sample of tissue that is removed: - Light microscopy: A laboratory test in which cells in a sample of tissue are viewed under regular and high-powered microscopes to look for certain changes in the cells. - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer. - FISH (fluorescence in situ hybridization): A laboratory test used to look at genes or chromosomes in cells and tissues. Pieces of DNA that contain a fluorescent dye are made in the laboratory and added to cells or tissues on a glass slide. When these pieces of DNA attach to certain genes or areas of chromosomes on the slide, they light up when viewed under a microscope with a special light. This type of test is used to find certain gene changes. - Reverse transcriptionpolymerase chain reaction (RTPCR) test: A laboratory test in which cells in a sample of tissue are studied using chemicals to look for certain changes in the structure or function of genes. - Cytogenetic analysis : A laboratory test in which cells in a sample of tissue are viewed under a microscope to look for certain changes in the chromosomes.

### Question: How to diagnose Ewing Sarcoma ? ### Answer:

Tests that examine the bone and soft tissue are used to diagnose and stage Ewing sarcoma. Procedures that make pictures of the bones and soft tissues and nearby areas help diagnose Ewing sarcoma and show how far the cancer has spread. The process used to find out if cancer cells have spread within and around the bones and soft tissues is called staging. In order to plan treatment, it is important to know if the cancer is in the area where it first formed or if it has spread to other parts of the body. Tests and procedures to detect, diagnose, and stage Ewing sarcoma are usually done at the same time. The following tests and procedures may be used to diagnose or stage Ewing sarcoma: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body, such as the area where the tumor formed. This procedure is also called nuclear magnetic resonance imaging (NMRI). - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the area where the tumor formed or the chest, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. A PET scan and a CT scan are often done at the same time. If there is any cancer, this increases the chance that it will be found. - Bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones with cancer and is detected by a scanner. - Bone marrow aspiration and biopsy : The removal of bone marrow and a small piece of bone by inserting a hollow needle into the hipbone. Samples are removed from both hipbones. A pathologist views the bone marrow and bone under a microscope to see if the cancer has spread. - X-ray: An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body, such as the chest or the area where the tumor formed. - Complete blood count (CBC): A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells, white blood cells, and platelets. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the blood sample made up of red blood cells. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances, such as lactate dehydrogenase (LDH), released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. A biopsy is done to diagnose Ewing sarcoma. Tissue samples are removed during a biopsy so they can be viewed under a microscope by a pathologist to check for signs of cancer. It is helpful if the biopsy is done at the same center where treatment will be given. - Needle biopsy : For a needle biopsy, tissue is removed using a needle. This type of needle biopsy may be done if its possible to remove tissue samples large enough to be used for testing. - Incisional biopsy : For an incisional biopsy, a sample of tissue is removed through an incision in the skin. - Excisional biopsy : The removal of an entire lump or area of tissue that doesnt look normal. The specialists (pathologist, radiation oncologist, and surgeon) who will treat the patient usually work together to decide where the needle should be placed or the biopsy incision should be made. This is done so that the biopsy doesn't affect later treatment such as surgery to remove the tumor or radiation therapy. If there is a chance that the cancer has spread to nearby lymph nodes, one or more lymph nodes may be removed and checked for signs of cancer. The following tests may be done on the tissue that is removed: - Cytogenetic analysis : A laboratory test in which cells in a sample of tissue are viewed under a microscope to look for certain changes in the chromosomes. - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer. - Flow cytometry : A laboratory test that measures the number of cells in a sample, the percentage of live cells in a sample, and certain characteristics of cells, such as size, shape, and the presence of tumor markers on the cell surface. The cells are stained with a light-sensitive dye, placed in a fluid, and passed in a stream before a laser or other type of light. The measurements are based on how the light-sensitive dye reacts to the light.

### Question: Who is at risk for Endometrial Cancer? ? ### Answer:

Key Points - Avoiding risk factors and increasing protective factors may help prevent cancer. - The following risk factors increase the risk of endometrial cancer: - Endometrial hyperplasia - Estrogen - Tamoxifen - Obesity, weight gain, metabolic syndrome, and diabetes - Genetic factors - The following protective factors decrease the risk of endometrial cancer: - Pregnancy and breast-feeding - Combination oral contraceptives - Physical activity - Cigarette smoking - It is not known if the following factors affect the risk of endometrial cancer: - Weight loss - Fruits, vegetables, and vitamins - Cancer prevention clinical trials are used to study ways to prevent cancer. - New ways to prevent endometrial cancer are being studied in clinical trials. Avoiding risk factors and increasing protective factors may help prevent cancer. Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. Talk to your doctor or other health care professional about how you might lower your risk of cancer. The following risk factors increase the risk of endometrial cancer: Endometrial hyperplasia Endometrial hyperplasia is an abnormal thickening of the endometrium (lining of the uterus). It is not cancer, but in some cases, it may lead to endometrial cancer. Estrogen Estrogen is a hormone made by the body. It helps the body develop and maintain female sex characteristics. Estrogen can affect the growth of some cancers, including endometrial cancer. A woman's risk of developing endometrial cancer is increased by being exposed to estrogen in the following ways: - Estrogen-only hormone replacement therapy: Estrogen may be given to replace the estrogen no longer produced by the ovaries in postmenopausal women or women whose ovaries have been removed. This is called hormone replacement therapy (HRT), or hormone therapy (HT). The use of HRT that contains only estrogen increases the risk of endometrial cancer and endometrial hyperplasia. For this reason, estrogen therapy alone is usually prescribed only for women who do not have a uterus. HRT that contains only estrogen also increases the risk of stroke and blood clots. When estrogen is combined with progestin (another hormone), it is called combination estrogen-progestin replacement therapy. For postmenopausal women, taking estrogen in combination with progestin does not increase the risk of endometrial cancer, but it does increase the risk of breast cancer. (See the Breast Cancer Prevention summary for more information.) - Early menstruation: Beginning to have menstrual periods at an early age increases the number of years the body is exposed to estrogen and increases a woman's risk of endometrial cancer. - Late menopause: Women who reach menopause at an older age are exposed to estrogen for a longer time and have an increased risk of endometrial cancer. - Never being pregnant: Because estrogen levels are lower during pregnancy, women who have never been pregnant are exposed to estrogen for a longer time than women who have been pregnant. This increases the risk of endometrial cancer. Tamoxifen Tamoxifen is one of a group of drugs called selective estrogen receptor modulators, or SERMs. Tamoxifen acts like estrogen on some tissues in the body, such as the uterus, but blocks the effects of estrogen on other tissues, such as the breast. Tamoxifen is used to prevent breast cancer in women who are at high risk for the disease. However, using tamoxifen for more than 2 years increases the risk of endometrial cancer. This risk is greater in postmenopausal women. Raloxifene is a SERM that is used to prevent bone weakness in postmenopausal women. However, it does not have estrogen-like effects on the uterus and has not been shown to increase the risk of endometrial cancer. Obesity, weight gain, metabolic syndrome, and diabetes Obesity, gaining weight as an adult, or having metabolic syndrome increases the risk of endometrial cancer. Obesity is related to other risk factors such as high estrogen levels, having extra fat around the waist, polycystic ovary syndrome, and lack of physical activity. Having metabolic syndrome increases the risk of endometrial cancer. Metabolic syndrome is a condition that includes extra fat around the waist, high blood sugar, high blood pressure, and high levels of triglycerides (a type of fat) in the blood. Genetic factors Hereditary nonpolyposis colon cancer (HNPCC) syndrome (also known as Lynch Syndrome) is an inherited disorder caused by changes in certain genes. Women who have HNPCC syndrome have a much higher risk of developing endometrial cancer than women who do not have HNPCC syndrome. Polycystic ovary syndrome (a disorder of the hormones made by the ovaries), and Cowden syndrome are inherited conditions that are linked to an increased risk of endometrial cancer. Women with a family history of endometrial cancer in a first-degree relative (mother, sister, or daughter) are also at increased risk of endometrial cancer. It is not known if the following factors affect the risk of endometrial cancer: Weight loss It is not known if losing weight decreases the risk of endometrial cancer. Fruits, vegetables, and vitamins A diet that includes, fruits, vegetables, phytoestrogen, soy, and vitamin D has not been found to affect the risk of endometrial cancer. Taking multivitamins has little or no effect on the risk of common cancers, including endometrial cancer.

### Question: How to diagnose Wilms Tumor and Other Childhood Kidney Tumors ? ### Answer:

Tests are used to screen for Wilms tumor. Screening tests are done in children with an increased risk of Wilms tumor. These tests may help find cancer early and decrease the chance of dying from cancer. In general, children with an increased risk of Wilms tumor should be screened for Wilms tumor every three months until they are at least 8 years old. An ultrasound test of the abdomen is usually used for screening. Small Wilms tumors may be found and removed before symptoms occur. Children with Beckwith-Wiedemann syndrome or hemihyperplasia are also screened for liver and adrenal tumors that are linked to these genetic syndromes. A test to check the alpha-fetoprotein (AFP) level in the blood and an ultrasound of the abdomen are done until the child is 4 years old. An ultrasound of the kidneys is done after the child is 4 years old. In children with certain gene changes, a different schedule for ultrasound of the abdomen may be used. Children with aniridia and a certain gene change are screened for Wilms tumor every three months until they are 8 years old. An ultrasound test of the abdomen is used for screening. Some children develop Wilms tumor in both kidneys. These often appear when Wilms tumor is first diagnosed, but Wilms tumor may also occur in the second kidney after the child is successfully treated for Wilms tumor in one kidney. Children with an increased risk of a second Wilms tumor in the other kidney should be screened for Wilms tumor every three months for up to eight years. An ultrasound test of the abdomen may be used for screening. Tests that examine the kidney and the blood are used to detect (find) and diagnose Wilms tumor and other childhood kidney tumors. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Complete blood count (CBC): A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells, white blood cells, and platelets. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the blood sample made up of red blood cells. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. This test is done to check how well the liver and kidneys are working. - Renal function test : A procedure in which blood or urine samples are checked to measure the amounts of certain substances released into the blood or urine by the kidneys. A higher or lower than normal amount of a substance can be a sign that the kidneys are not working as they should. - Urinalysis : A test to check the color of urine and its contents, such as sugar, protein, blood, and bacteria. - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. An ultrasound of the abdomen is done to diagnose a kidney tumor. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the chest, abdomen, and pelvis, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye is injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging) with gadolinium: A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body, such as the abdomen. A substance called gadolinium is injected into a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). - X-ray: An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body, such as the chest and abdomen. - PET-CT scan : A procedure that combines the pictures from a positron emission tomography (PET) scan and a computed tomography (CT) scan. The PET and CT scans are done at the same time on the same machine. The pictures from both scans are combined to make a more detailed picture than either test would make by itself. A PET scan is a procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. The decision of whether to do a biopsy is based on the following: - The size of the tumor. - The stage of the cancer. - Whether cancer is in one or both kidneys. - Whether imaging tests clearly show the cancer. - Whether the tumor can be removed by surgery. - Whether the patient is in a clinical trial. A biopsy may be done before any treatment is given, after chemotherapy to shrink the tumor, or after surgery to remove the tumor.

### Question: What are the symptoms of Alagille syndrome ? ### Answer:

What are the signs and symptoms of Alagille syndrome? Alagille syndrome is a complex multisystem disorder involving the liver, heart, eyes, face, and skeleton. Symptoms typically present in infancy or early childhood. The severity of the disorder varies among affected individuals, even within the same family. Symptoms range from so mild as to go unnoticed to severe enough to require heart and/or liver transplants. One of the major features of Alagille syndrome is liver damage caused by abnormalities in the bile ducts. These ducts carry bile (which helps to digest fats) from the liver to the gallbladder and small intestine. In Alagille syndrome, the bile ducts may be narrow, malformed, and reduced in number. This results in a build-up of bile causing scarring that prevents the liver from working properly. This may lead to jaundice, itchy skin, and deposits of cholesterol in the skin (xanthomas). Alagille syndrome is also associated with several heart problems, including impaired blood flow from the heart into the lungs (pulmonic stenosis). Other heart-related problems include a hole between the two lower chambers of the heart (ventricular septal defect) and a combination of heart defects called tetralogy of Fallot. People with Alagille syndrome may also have distinctive facial features (including a broad, prominent forehead; deep-set eyes; and a small, pointed chin), problems with the blood vessels within the brain and spinal cord (central nervous system) and the kidneys, and an unusual butterfly shape of the bones of the spinal column (vertebrae). Detailed information about the symptoms associated with Allagille syndrome can be accessed through the National Digestive Diseases Information Clearinghouse (NDDIC) and GeneReviews. The Human Phenotype Ontology provides the following list of signs and symptoms for Alagille syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Biliary tract abnormality 90% Corneal dystrophy 90% Hepatomegaly 90% Ventricular septal defect 90% Abnormal form of the vertebral bodies 50% Abnormal nasal morphology 50% Abnormality of the pinna 50% Coarse facial features 50% Frontal bossing 50% Intrauterine growth retardation 50% Pointed chin 50% Round face 50% Spina bifida occulta 50% Telangiectasia of the skin 50% Vertebral segmentation defect 50% Abnormality of chromosome segregation 7.5% Abnormality of the pulmonary artery 7.5% Abnormality of the pupil 7.5% Abnormality of the ribs 7.5% Abnormality of the ulna 7.5% Abnormality of the ureter 7.5% Atria septal defect 7.5% Clinodactyly of the 5th finger 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Decreased corneal thickness 7.5% Deeply set eye 7.5% Delayed skeletal maturation 7.5% Hypertelorism 7.5% Hypertension 7.5% Intellectual disability, mild 7.5% Malar flattening 7.5% Nephrotic syndrome 7.5% Renal hypoplasia/aplasia 7.5% Short distal phalanx of finger 7.5% Short philtrum 7.5% Strabismus 7.5% Areflexia - Autosomal dominant inheritance - Axenfeld anomaly - Band keratopathy - Broad forehead - Butterfly vertebral arch - Cataract - Chorioretinal atrophy - Cirrhosis - Coarctation of aorta - Depressed nasal bridge - Elevated hepatic transaminases - Exocrine pancreatic insufficiency - Failure to thrive - Hemivertebrae - Hepatocellular carcinoma - Hypercholesterolemia - Hypertriglyceridemia - Hypoplasia of the ulna - Incomplete penetrance - Infantile onset - Long nose - Macrotia - Microcornea - Multiple small medullary renal cysts - Myopia - Papillary thyroid carcinoma - Peripheral pulmonary artery stenosis - Pigmentary retinal deposits - Posterior embryotoxon - Prolonged neonatal jaundice - Reduced number of intrahepatic bile ducts - Renal dysplasia - Renal hypoplasia - Renal tubular acidosis - Specific learning disability - Stroke - Tetralogy of Fallot - Triangular face - Upslanted palpebral fissure - Vesicoureteral reflux - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

### Question: What are the treatments for Proctitis ? ### Answer:

Treatment of proctitis depends on its cause. The goal of treatment is to reduce inflammation, control symptoms, and eliminate infection, if it is present. Only a doctor can determine the cause of proctitis and the best course of treatment. With proper medical attention, proctitis can be successfully treated. Proctitis from Infection If lab tests confirm that an STD or non-STD infection is present, medication is prescribed based on the type of infection found. Antibiotics are prescribed to kill bacteria; antiviral medications are prescribed to treat viruses. Although some STD viruses cannot be eliminated, antivirals can control their symptoms. Proctitis from Other Causes If antibiotic use triggered proctitis, the doctor may prescribe a different antibiotic designed to destroy the harmful bacteria that have developed in the intestines. If proctitis is caused by anorectal trauma, the activity causing the inflammation should be stopped. Healing usually occurs in 4 to 6 weeks. The doctor may recommend over-the-counter medications such as antidiarrheals and those used for pain relief, such as aspirin and ibuprofen. Treatment of radiation proctitis is based on symptoms. Radiation proctitis causing only mild symptoms such as occasional bleeding or tenesmus may heal without treatment. For people with persistent or severe bleeding, thermal therapy may be used to stop bleeding and inflammation. Thermal therapy is done during flexible sigmoidoscopy or colonoscopy and targets the rectal lining with a heat probe, electric current, or laser. Argon plasma coagulation is the most common thermal therapy used to control bleeding in radiation proctitis. In many cases, several treatments are required. Obstruction that results from a stricturea narrowing of the rectumcaused by radiation proctitis may be treated with stool softeners in mild cases. In people with narrower strictures, dilation to enlarge the narrow area may be required. Sucralfate, 5-aminosalicylic acidknown as 5-ASAor corticosteroid enemas can also be used to ease pain and reduce inflammation from radiation proctitis, although their effectiveness is limited. When a chronic IBD such as ulcerative colitis or Crohns disease causes proctitis, treatment aims to reduce inflammation, control symptoms, and induce and maintain remissiona period when the person is symptom-free. Treatment depends on the extent and severity of the disease. Anti-inflammation medications. Mild proctitis can often be effectively treated with topical mesalamine, either suppositories or enemas. Some people with IBD and proctitis cannot tolerateor may have an incomplete response torectal therapy with 5-ASA suppositories or enemas. For these people, the doctor may prescribe oral medications alone or in combination with rectal therapy. Oral medications commonly used for proctitis contain salicylate. These include sulfasalazine- or mesalamine-containing medications, such as Asacol, Dipentum, or Pentasa. Possible side effects of oral administration of sulfasalazine- or mesalaminecontaining medications include nausea, vomiting, heartburn, diarrhea, and headache. Improvement in symptoms, including a decrease in bleeding, can occur within a few days, although complete healing requires 4 to 6 weeks of therapy. Cortisone or steroids. These medications, also called corticosteroids, are effective at reducing inflammation. Prednisone and budesonide are generic names of two medications in this group. Corticosteroids for proctitis may be taken in pill, suppository, or enema form. When symptoms are at their worst, corticosteroids are usually prescribed in a large dose. The dosage is then gradually lowered once symptoms are controlled. Corticosteroids can cause serious side effects, including greater susceptibility to infection and osteoporosis, or weakening of the bones. Immune system suppressors. Medications that suppress the immune systemcalled immunosuppressive medicationsare also used to treat proctitis. The most commonly prescribed medication is 6-mercaptopurine or a related medication, azathioprine. Immunosuppressive medications work by blocking the immune reaction that contributes to inflammation. These medications may cause side effects such as nausea, vomiting, and diarrhea and may lower a persons resistance to infection. Some patients are treated with a combination of corticosteroids and immunosuppressive medications. Some studies suggest that immunosuppressive medications may enhance the effectiveness of corticosteroids. Infliximab (Remicade). Researchers have found that high levels of a protein produced by the immune system, called tumor necrosis factor (TNF), are present in people with Crohns disease. Infliximab is the first of a group of medications that bind to TNF substances to block the bodys inflammation response. The U.S. Food and Drug Administration approved the medication for the treatment of moderate to severe Crohns disease that does not respond to standard therapiesmesalamine substances, corticosteroids, immunosuppressive medicationsand for the treatment of open, draining fistulas. The medication is also given to people who have Crohns disease with proctitis. Some studies suggest that infliximab may enhance the effectiveness of immunosuppressive medications. Bacterial infection can occur with flare-ups of ulcerative colitis or Crohns disease. Antibiotics may also be used to treat flare-ups in people with IBD and proctitis. More information about the treatment of IBD is provided in the NIDDK health topics, Ulcerative Colitis and Crohns Disease.

### Question: Who is at risk for Heart Failure? ? ### Answer:

Preventing Heart Failure There are a number of things you can do to reduce the risk for coronary artery disease and heart failure. These things include - keeping your cholesterol levels healthy - keeping your blood pressure at a normal level - managing diabetes - maintaining a healthy weight - quitting smoking - limiting the amount of alcohol you drink - following a heart healthy diet - limiting the amount of sodium (salt) you consume - getting regular exercise - avoiding using illegal drugs. keeping your cholesterol levels healthy keeping your blood pressure at a normal level managing diabetes maintaining a healthy weight quitting smoking limiting the amount of alcohol you drink following a heart healthy diet limiting the amount of sodium (salt) you consume getting regular exercise avoiding using illegal drugs. Keep Your Cholesterol Levels Healthy Keeping your cholesterol levels healthy can help prevent coronary artery disease. Your goal for LDL, or "bad," cholesterol, depends on how many other risk factors you have. Risk factors include - being a cigarette smoker - having high blood pressure - having low HDL cholesterol - being 45 or older if you are a man and 55 or older if you are a woman - having a close relative who had coronary artery disease at an earlier-than-usual age (before age 55 for male relatives and before age 65 for female relatives). being a cigarette smoker having high blood pressure having low HDL cholesterol being 45 or older if you are a man and 55 or older if you are a woman having a close relative who had coronary artery disease at an earlier-than-usual age (before age 55 for male relatives and before age 65 for female relatives). Recommended LDL Cholesterol Goals - If you don't have coronary heart disease or diabetes and have one or no risk factors, your LDL goal is less than 160 mg/dL. - If you don't have coronary heart disease or diabetes and have two or more risk factors, your LDL goal is less than 130 mg/dL. - If you do have coronary heart disease or diabetes, your LDL goal is less than 100 mg/dL. - The goal for HDL, or "good," cholesterol is above 40 in men and above 50 in women. - The goal for triglycerides, another fat in the blood, is below 150. If you don't have coronary heart disease or diabetes and have one or no risk factors, your LDL goal is less than 160 mg/dL. If you don't have coronary heart disease or diabetes and have two or more risk factors, your LDL goal is less than 130 mg/dL. If you do have coronary heart disease or diabetes, your LDL goal is less than 100 mg/dL. The goal for HDL, or "good," cholesterol is above 40 in men and above 50 in women. The goal for triglycerides, another fat in the blood, is below 150. Learn how to control your cholesterol with TLC -- Therapeutic Lifestyle Changes. Keep Blood Pressure at a Normal Level High blood pressure causes the heart to get larger and work harder, which can then lead to heart failure. You should aim for a blood pressure level of 130/80 or below. Talk to your doctor about ways to lower your blood pressure. Get tips on how to control your blood pressure. Manage Diabetes If you have diabetes, its important to manage it properly. Diabetes is characterized by having too much glucose, or sugar, in the blood for a long time. This can cause heart problems because high blood glucose can damage parts of the body such as the heart and blood vessels. This damage weakens the heart, often leading to heart failure. See ways to manage your diabetes every day. Maintain a Healthy Weight Excess weight puts strain on the heart. Being overweight also increases your risk of heart disease and type 2 diabetes. These diseases can lead to heart failure. See a sensible approach to weight loss. Don't Smoke If you smoke, quit. For free help quitting, call a smoking quit line. See medications to help you quit. Follow a Heart Healthy Diet Heart-healthy foods include those high in fiber, such as oat bran, oatmeal, whole-grain breads and cereals, fruits, and vegetables. You can also maintain a heart-healthy diet by limiting foods that are high in saturated fat, trans-fat, and cholesterol, such as meats, butter, dairy products with fat, eggs, shortening, lard, and foods with palm oil or coconut oil. For more on healthy eating, see Eating Well As You Get Older. Limit the Amount of Alcohol You Drink In general, healthy men and women over age 65 should not drink more than three drinks a day or a total of seven drinks a week. Learn how alcohol affects you as get older. Limit the Amount of Sodium Sodium contributes to high blood pressure and fluid retention. Older adults should limit their intake of sodium to1,500 milligrams daily (about 2/3 tsp. of salt). See ways to cut back on your salt intake. Get Regular Exericse Studies show that people with heart disease, diabetes, and high blood pressure benefit from regular exercise. In fact, inactive people are nearly twice as likely to develop heart disease as those who are more active. Aim for at least 30 minutes a day of exercise. Check with your doctor before starting any exercise program. For information on exercise and older adults, see Benefits of Exercise or visit Go4Life, the exercise and physical activity campaign for older adults from the National Institute on Aging.

### Question: What to do for Celiac Disease ? ### Answer:

Eating, diet, and nutrition play a significant role in treating celiac disease. People with the disease should maintain a gluten-free diet by avoiding products that contain gluten. In other words, a person with celiac disease should not eat most grains, pasta, and cereal, and many processed foods. People with celiac disease can eat a wellbalanced diet with a variety of foods. They can use potato, rice, soy, amaranth, quinoa, buckwheat, or bean flour instead of wheat flour. They can buy gluten-free bread, pasta, and other products from stores, or order products from special food companies. Meanwhile, "plain"meaning no additives or seasoningsmeat, fish, rice, fruits, and vegetables do not contain gluten, so people with celiac disease can eat these foods. In the past, health care providers and dietitians advised people with celiac disease to avoid eating oats. Evidence suggests that most people with the disease can safely eat small amounts of oats, as long as the oats are not contaminated with wheat gluten during processing. People with celiac disease should talk with their health care team when deciding whether to include oats in their diet. Eating out and shopping can be a challenge. Newly diagnosed people and their families may find support groups helpful as they adjust to a new approach to eating. People with celiac disease should - read food labelsespecially canned, frozen, and processed foodsfor ingredients that contain gluten - avoid ingredients such as hydrolyzed vegetable protein, also called lecithin or soy lecithin - ask restaurant servers and chefs about ingredients and food preparation inquire whether a gluten-free menu is available - ask a dinner or party host about glutenfree options before attending a social gathering Foods that are packaged as gluten-free tend to cost more than the same foods containing gluten. People following a gluten-free diet may find that naturally gluten-free foods are less expensive. With practice, looking for gluten can become second nature. The Gluten-free Diet: Some Examples The Academy of Nutrition and Dietetics has published recommendations for a glutenfree diet. The following chart illustrates these recommendations. This list is not complete, so people with celiac disease should discuss gluten-free food choices with a dietitian or health care professional who specializes in celiac disease. People with celiac disease should always read food ingredient lists carefully to make sure the food does not contain gluten. Table 1. Gluten-free foods and foods that contain gluten Foods and Ingredients That Contain Gluten barley rye triticale (a cross between wheat and rye) wheat, including - including einkorn, emmer, spelt, kamut - wheat starch, wheat bran, wheat germ, cracked wheat, hydrolyzed wheat protein brewer's yeast dextrin malt (unless a gluten-free source is named, such as corn malt) modified food starch oats (not labeled gluten-free) starch Other Wheat Products That Contain Gluten bromated flour durum flour enriched flour farina graham flour phosphated flour plain flour self-rising flour semolina white flour Processed Foods That May Contain Wheat, Barley, or Rye* bouillon cubes brown rice syrup candy chewing gum chips/potato chips cold cuts, hot dogs, salami, sausage communion wafers french fries gravies imitation fish matzo and matzo meal rice mixes sauces seasoned tortilla chips self-basting turkey soups soy sauce vegetables in sauce *Most of these foods can be found gluten-free. When in doubt, check with the food manufacturer. Food Products and Ingredients Made from Barley* ale beer malt malt beverages malted milk malt extract malt syrup malt vinegar other fermented beverages porter stout *People should only consume these foods if they are labeled gluten-freesuch as sorghum-based beeror they list a grain source other than barley, wheat, or ryesuch as corn malt. Foods That Do Not Contain Gluten amaranth arrowroot buckwheat cassava corn flax legumes lentils millet nuts oats (labeled gluten-free) potatoes quinoa rice sago seeds sorghum soy tapioca tef (or teff) wild rice yucca Food Labeling Requirements On August 2, 2013, the U.S. Food and Drug Administration (FDA) published a new regulation defining the term "glutenfree" for voluntary food labeling. This new federal definition standardizes the meaning of "gluten-free" foods regulated by the FDA. Foods regulated by the U.S. Department of Agriculture, including meat and egg products, are not subject to this regulation. The regulation requires that any food with the term "gluten-free" on the label must meet all of the requirements of the definition, including that the food should contain fewer than 20 parts per million of gluten. The FDA rule also requires foods with the claims "no gluten," "free of gluten," and "without gluten" to meet the definition for "gluten-free." If a food that is labeled "gluten-free" includes "wheat" on the ingredients list or "contains wheat" after the list, the following statement must be included on the label: "The wheat has been processed to allow this food to meet the Food and Drug Administration requirements for gluten-free food." If this statement is included, people with celiac disease may consume foods labeled "gluten-free."

### Question: What are the treatments for Problems with Smell ? ### Answer:

Relief is Possible Although there is no treatment for presbyosmia -- loss of smell due to aging -- relief from smell disorders is possible for many older people. Depending on the cause of your problem with smell, your doctor may be able to treat it or suggest ways to cope with it. Recovering the Ability To Smell Some people recover their ability to smell when they recover from the illness causing their loss of smell. Some people recover their sense of smell spontaneously, for no obvious reason. Other common causes of smell loss, such as the common cold or seasonal allergies, are usually temporary. Smell is regained by waiting for the illness to run its course. In some cases, nasal obstructions, such as polyps, can be removed to restore airflow through the nasal passages and restore the sense of smell. If your smell disorder cant be successfully treated, you might want to seek counseling to help you adjust. Ask About Your Medications Sometimes a certain medication causes a smell disorder, and improvement occurs when the medicine causing the problem is stopped or changed. If you take medications, ask your doctor if they can affect your sense of smell. If so, ask if you could substitute other medications or reduce the dose. Your doctor will work with you to get the medicine you need while trying to reduce unwanted side effects. Medications That May Help Your doctor may suggest oral steroid medications such as prednisone, which is usually used for a short period of time, or topical steroid sprays, which can be used for longer periods of time. Antibiotics are also used to treat nasal infections. The effectiveness of both steroids and antibiotics depends greatly on the severity and duration of the nasal swelling or infection. Often relief is temporary. Occasionally, the sense of smell returns to normal on its own without any treatment. Steps You Can Take If you have a problem with smell, there are some things you can do. - Wait it out. If you have had a cold with a stuffy nose, chances are in a few days your sense of smell will return. However, you should not wait to see your doctor if you think something more serious has caused your loss of smell or you have had the problem for a while. Loss of smell can sometimes mean a more serious condition exists. Wait it out. If you have had a cold with a stuffy nose, chances are in a few days your sense of smell will return. However, you should not wait to see your doctor if you think something more serious has caused your loss of smell or you have had the problem for a while. Loss of smell can sometimes mean a more serious condition exists. - Sweat it out. If your nose is stuffed up from a cold, sometimes mild exercise or the steam from a hot shower may open up your nasal passages. Sweat it out. If your nose is stuffed up from a cold, sometimes mild exercise or the steam from a hot shower may open up your nasal passages. - Stop smoking. Smoking causes long-term damage to your sense of smell. If you quit smoking, you may notice some improvement. To get free help quitting, visit www.Smokefree.gov Stop smoking. Smoking causes long-term damage to your sense of smell. If you quit smoking, you may notice some improvement. To get free help quitting, visit www.Smokefree.gov - Check with your doctor. If your sense of smell seems to have disappeared or changed, or if you've noticed the problem for a while, see your doctor for help. Sometimes, especially with a sinus infection, taking antibiotics for a short period of time may remedy the problem. If there is a blockage or you have a chronic sinus condition, outpatient surgery may be called for. Check with your doctor. If your sense of smell seems to have disappeared or changed, or if you've noticed the problem for a while, see your doctor for help. Sometimes, especially with a sinus infection, taking antibiotics for a short period of time may remedy the problem. If there is a blockage or you have a chronic sinus condition, outpatient surgery may be called for. If Your Smell Loss Is Permanent If you do not regain your sense of smell, there are things you should do to ensure your safety. Take extra precautions to avoid eating food that may have spoiled. If you live with other people, ask them to smell the food to make sure it is fresh. People who live alone should discard food if there is a chance it is spoiled. Other home safety measures include installing smoke alarms and gas detectors. For those who wish to have additional help, there may be support groups in your area. These are often associated with smell and taste clinics in medical school hospitals. Some online bulletin boards also allow people with smell disorders to share their experiences. Not all people with smell disorders will regain their sense of smell, but most can learn to live with it. Ongoing Research The National Institute on Deafness and Other Communication Disorders (NIDCD) supports basic and clinical investigations of smell and taste disorders at its laboratories in Bethesda, Md. and at universities and chemosensory research centers across the country. These chemosensory scientists are exploring how to - promote the regeneration of sensory nerve cells - understand the effects of the environment (such as gasoline fumes, chemicals, and extremes of humidity and temperature) on smell and taste - prevent the effects of aging on smell and taste - develop new diagnostic tests for taste and smell disorders - understand associations between smell disorders and changes in diet and food preferences in the elderly or among people with chronic illnesses. promote the regeneration of sensory nerve cells understand the effects of the environment (such as gasoline fumes, chemicals, and extremes of humidity and temperature) on smell and taste prevent the effects of aging on smell and taste develop new diagnostic tests for taste and smell disorders understand associations between smell disorders and changes in diet and food preferences in the elderly or among people with chronic illnesses.

### Question: What are the treatments for Sleep Apnea ? ### Answer:

Sleep apnea is treated with lifestyle changes, mouthpieces, breathing devices, and surgery. Medicines typically aren't used to treat the condition. The goals of treating sleep apnea are to: Restore regular breathing during sleep Relieve symptoms such as loud snoring and daytime sleepiness Treatment may improve other medical problems linked to sleep apnea, such as high blood pressure. Treatment also can reduce your risk for heart disease,stroke, and diabetes. If you have sleep apnea, talk with your doctor or sleep specialist about the treatment options that will work best for you. Lifestyle changes and/or mouthpieces may relieve mild sleep apnea. People who have moderate or severe sleep apnea may need breathing devices or surgery. If you continue to have daytime sleepiness despite treatment, your doctor may ask whether you're getting enough sleep. (Adults should get at least 7 to 8 hours of sleep; children and teens need more. For more information, go to the Health Topics Sleep Deprivation and Deficiency article.) If treatment and enough sleep don't relieve your daytime sleepiness, your doctor will consider other treatment options. Lifestyle Changes If you have mild sleep apnea, some changes in daily activities or habits might be all the treatment you need. Avoid alcohol and medicines that make you sleepy. They make it harder for your throat to stay open while you sleep. Lose weight if you're overweight or obese. Even a little weight loss can improve your symptoms. Sleep on your side instead of your back to help keep your throat open. You can sleep with special pillows or shirts that prevent you from sleeping on your back. Keep your nasal passages open at night with nasal sprays or allergy medicines, if needed. Talk with your doctor about whether these treatments might help you. If you smoke, quit. Talk with your doctor about programs and products that can help you quit smoking. Mouthpieces A mouthpiece, sometimes called an oral appliance, may help some people who have mild sleep apnea. Your doctor also may recommend a mouthpiece if you snore loudly but don't have sleep apnea. A dentist or orthodontist can make a custom-fit plastic mouthpiece for treating sleep apnea. (An orthodontist specializes in correcting teeth or jaw problems.) The mouthpiece will adjust your lower jaw and your tongue to help keep your airways open while you sleep. If you use a mouthpiece, tell your doctor if you have discomfort or pain while using the device. You may need periodic office visits so your doctor can adjust your mouthpiece to fit better. Breathing Devices CPAP (continuous positive airway pressure) is the most common treatment for moderate to severe sleep apnea in adults. A CPAP machine uses a mask that fits over your mouth and nose, or just over your nose. The machine gently blows air into your throat. The pressure from the air helps keep your airway open while you sleep. Treating sleep apnea may help you stop snoring. But not snoring doesn't mean that you no longer have sleep apnea or can stop using CPAP. Your sleep apnea will return if you stop using your CPAP machine or dont use it correctly. Usually, a technician will come to your home to bring the CPAP equipment. The technician will set up the CPAP machine and adjust it based on your doctor's prescription. After the initial setup, you may need to have the CPAP adjusted from time to time for the best results. CPAP treatment may cause side effects in some people. These side effects include a dry or stuffy nose, irritated skin on your face, dry mouth, and headaches. If your CPAP isn't adjusted properly, you may get stomach bloating and discomfort while wearing the mask. If you're having trouble with CPAP side effects, work with your sleep specialist, his or her nursing staff, and the CPAP technician. Together, you can take steps to reduce the side effects. For example, the CPAP settings or size/fit of the mask might need to be adjusted. Adding moisture to the air as it flows through the mask or using nasal spray can help relieve a dry, stuffy, or runny nose. There are many types of CPAP machines and masks. Tell your doctor if you're not happy with the type you're using. He or she may suggest switching to a different type that might work better for you. People who have severe sleep apnea symptoms generally feel much better once they begin treatment with CPAP. Surgery Some people who have sleep apnea might benefit from surgery. The type of surgery and how well it works depend on the cause of the sleep apnea. Surgery is done to widen breathing passages. It usually involves shrinking, stiffening, or removing excess tissue in the mouth and throat or resetting the lower jaw. Surgery to shrink or stiffen excess tissue is done in a doctor's office or a hospital. Shrinking tissue may involve small shots or other treatments to the tissue. You may need a series of treatments to shrink the excess tissue. To stiffen excess tissue, the doctor makes a small cut in the tissue and inserts a piece of stiff plastic. Surgery to remove excess tissue is done in a hospital. You're given medicine to help you sleep during the surgery. After surgery, you may have throat pain that lasts for 1 to 2 weeks. Surgery to remove the tonsils, if they're blocking the airway, might be helpful for some children. Your child's doctor may suggest waiting some time to see whether these tissues shrink on their own. This is common as small children grow.

### Question: What are the symptoms of Peters plus syndrome ? ### Answer:

What are the signs and symptoms of Peters plus syndrome? No formal diagnostic criteria have not been established for Peters plus syndrome. A clinical diagnosis is based on the presence of features. The following findings may be seen in individuals with Peters plus syndrome : Eye involvement: anomalies of the anterior chamber of the eye (e.g. Peters' anomaly); glaucoma; cataract Short stature Developmental delay Characteristic facial features (e.g. cleft lip and plate) Other associated findings (e.g congenital heart defects; anomalies of the kidney; structural brain malformations; congenital hypothyroidism; conductive hearing loss) The Human Phenotype Ontology provides the following list of signs and symptoms for Peters plus syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anterior chamber synechiae 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Exaggerated cupid's bow 90% Glaucoma 90% Intrauterine growth retardation 90% Long philtrum 90% Micromelia 90% Opacification of the corneal stroma 90% Round face 90% Short stature 90% Short toe 90% Thin vermilion border 90% Abnormality of the cardiac septa 50% Abnormality of the pulmonary artery 50% Blepharophimosis 50% Cataract 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Frontal bossing 50% Hypertelorism 50% Microcornea 50% Nystagmus 50% Oral cleft 50% Preauricular skin tag 50% Toe syndactyly 50% Upslanted palpebral fissure 50% Webbed neck 50% Intellectual disability, progressive 20% Abnormality of female external genitalia 7.5% Abnormality of female internal genitalia 7.5% Abnormality of the nipple 7.5% Abnormality of the ureter 7.5% Anterior hypopituitarism 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cerebral cortical atrophy 7.5% Conductive hearing impairment 7.5% Depressed nasal bridge 7.5% Intestinal fistula 7.5% Iris coloboma 7.5% Low-set, posteriorly rotated ears 7.5% Microcephaly 7.5% Multicystic kidney dysplasia 7.5% Optic atrophy 7.5% Polyhydramnios 7.5% Renal hypoplasia/aplasia 7.5% Sacral dimple 7.5% Short nose 7.5% Spina bifida occulta 7.5% Umbilical hernia 7.5% Urogenital fistula 7.5% Ventriculomegaly 7.5% Visual impairment 7.5% Wide mouth 7.5% Agenesis of corpus callosum - Agenesis of maxillary lateral incisor - Atria septal defect - Autosomal recessive inheritance - Biliary tract abnormality - Bilobate gallbladder - Birth length less than 3rd percentile - Broad neck - Cerebral atrophy - Cleft palate - Cleft upper lip - Clitoral hypoplasia - Conical incisor - Craniosynostosis - Decreased body weight - Diastasis recti - Facial hypertrichosis - Feeding difficulties in infancy - Hemivertebrae - Hydrocephalus - Hydronephrosis - Hypoplasia of the uterus - Hypoplasia of the vagina - Hypoplastic labia majora - Hypospadias - Joint laxity - Limited elbow movement - Macrocephaly - Microtia, second degree - Myopia - Pectus excavatum - Pes cavus - Peters anomaly - Postnatal growth retardation - Preauricular pit - Prominent forehead - Protruding ear - Proximal placement of thumb - Ptosis - Pulmonic stenosis - Retinal coloboma - Rhizomelia - Scoliosis - Seizures - Short foot - Short lingual frenulum - Short metacarpal - Short metatarsal - Short palm - Single transverse palmar crease - Square pelvis bone - Stenosis of the external auditory canal - Syndactyly - Ureteral duplication - Ventricular septal defect - Wide anterior fontanel - Wide intermamillary distance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

### Question: What is (are) Kidney Failure: Choosing a Treatment That's Right for You ? ### Answer:

Purpose of Hemodialysis The purpose of hemodialysis is to filter your blood. This type of dialysis uses a machine to remove harmful wastes and extra fluid, as your kidneys did when they were healthy. Hemodialysis helps control blood pressure and balance important minerals, such as potassium, sodium, calcium, and bicarbonate, in your blood. Hemodialysis is not a cure for kidney failure; however, it can help you feel better and live longer. How Hemodialysis Works Before you can begin dialysis, a surgeon will create a vascular access, usually in your arm. A vascular access lets high volumes of blood flow continuously during hemodialysis treatments to filter the largest possible amounts of blood per treatment. Hemodialysis uses a machine to move your blood through a filter, called a dialyzer, outside your body. A pump on the hemodialysis machine draws your blood through a needle into a tube, a few ounces at a time. Your blood then travels through the tube, which takes it to the dialyzer. Inside the dialyzer, your blood flows through thin fibers that filter out wastes and extra fluid. After the dialyzer filters your blood, another tube carries your blood back to your body. You can do hemodialysis at a dialysis center or in your home. Hemodialysis can replace part of your kidney function. You will also need dietary changes, medicines, and limits on water and other liquids you drink and get from food. Your dietary changes, the number of medicines you need, and limits on liquid will depend on where you receive your treatmentsat a dialysis center or at homeand how often you receive treatmentsthree or more times a week. Pros and Cons of Hemodialysis The pros and cons of hemodialysis differ for each person. What may be bad for one person may be good for another. Following is a list of the general pros and cons of dialysis center and home hemodialysis. Dialysis Center Hemodialysis Pros - Dialysis centers are widely available. - Trained health care providers are with you at all times and help administer the treatment. - You can get to know other people with kidney failure who also need hemodialysis. - You dont have to have a trained partner or keep equipment in your home. Cons - The center arranges everyones treatments and allows few exceptions to the schedule. - You need to travel to the center for treatment. - This treatment has the strictest diet and limits on liquids because the longer time between treatments means wastes and extra fluid can build up in your body. - You may have more frequent ups and downs in how you feel from day to day because of the longer time between sessions. - Feeling better after a treatment may take a few hours. Home Hemodialysis Pros - You can do the treatment at the times you choose; however, you should follow your doctors orders about how many times a week you need treatment. - You dont have to travel to a dialysis center. - You gain a sense of control over your treatment. - You will have fewer ups and downs in how you feel from day to day because of more frequent sessions. - You can do your treatments at times that will let you work outside the home. - You will have a more manageable diet and fewer limits on liquids because the shorter time between sessions prevents the buildup of wastes and extra fluid. - You can take along a hemodialysis machine when traveling. - You can spend more time with your loved ones because you dont have to go to the dialysis center three times a week. Cons - Not all dialysis centers offer home hemodialysis training and support. - You and a family member or friend will have to set aside a week or more at the beginning for training. - Helping with treatments may be stressful for your family or friend. - You need space for storing the hemodialysis machine and supplies at home. - You will need to learn to put dialysis needles into your vascular access. - Medicare and private insurance companies may limit the number of treatments they will pay for when you use home hemodialysis. Few people can afford the costs for additional treatments. Questions to Ask My Doctor You may want to ask your doctor these questions: - Is hemodialysis the best treatment choice for me? Why? - If Im treated at a dialysis center, can I go to the center of my choice? - What should I look for in a dialysis center? - Will my kidney doctor see me at the dialysis center? - What does hemodialysis feel like? - How will hemodialysis affect my ____ [blood pressure, diabetes, other conditions]? - Is home hemodialysis available in my area? What type of training will I need? Who will train my partner and me? - Will I be able to keep working? Can I have treatments at night? Will I be able to care for my children? - How much should I exercise? - Whom do I contact if I have problems? - Who will be on my health care team? How can the members of my health care team help me? - If I do home hemodialysis, will my insurance pay for more than three sessions a week? - With whom can I talk about finances, sex, or family concerns? - How/where can I talk with other people who have faced this decision? More information about Hemodialysis and Home Hemodialysis is provided in the NIDDK health topics, Treatment Methods for Kidney Failure: Hemodialysis and Home Hemodialysis. See also the Kidney Failure Treatment Comparison Chart in this booklet, which compares hemodialysis, peritoneal dialysis, and transplantation.

### Question: What are the treatments for Primary Biliary Cirrhosis ? ### Answer:

Treatment for primary biliary cirrhosis depends on how early a health care provider diagnoses the disease and whether complications are present. In the early stages of primary biliary cirrhosis, treatment can slow the progression of liver damage to cirrhosis. In the early stages of cirrhosis, the goals of treatment are to slow the progression of tissue scarring in the liver and prevent complications. As cirrhosis progresses, a person may need additional treatments and hospitalization to manage complications. Medications Health care providers prescribe ursodiol (Actigall, Urso) to treat primary biliary cirrhosis. Ursodiol is a nontoxic bile acid that people can take orally. Ursodiol replaces the bile acids that are normally produced by the liver, which are more toxic and can harm the liver. Treatment with ursodiol can reduce levels of bilirubin and liver enzymes in the blood. Early treatment with this medication reduces the likelihood of needing a liver transplant and improves survival.3 Early treatment provides the most benefit; however, ursodiol treatment late in the course of the disease can still slow the progression of liver damage. While ursodiol treatment improves the outcome of primary biliary cirrhosis, it does not cure the disease. Researchers are studying the effects of several other medications on the progression of primary biliary cirrhosis. To date, none has shown the positive effects of ursodiol. Avoiding Alcohol and Other Substances People with cirrhosis should not drink any alcohol or take any illegal substances, as both will cause more liver damage. People with cirrhosis should avoid complementary and alternative medications, such as herbs. People with cirrhosis should be careful about starting new medications and should consult a health care provider before taking prescription medications, over-the-counter medications, or vitamins. Many vitamins and prescription and over-the-counter medications can affect liver function. Treatment of Symptoms and Complications Health care providers treat symptoms and complications as follows: Itching. Antihistamines may help with mild itching. However, antihistamines often cause drowsiness, and a person should take antihistamines just before bedtime to help with nighttime itching. A health care provider will treat more problematic itching with cholestyramine (Locholest, Questran), which reduces cholesterol in the blood. Experts believe high levels of cholesterol let substances that cause itching build up in tissues. Dry eyes and mouth. Health care providers usually treat dry eyes and mouth with artificial tears and saliva substitutes, respectively. These products are available without a prescription. A health care provider may treat people whose symptoms do not improve with pilocarpine (Salagen) or cevimeline (Evoxac). People who have difficulty with dry eyes should see an ophthalmologista doctor who diagnoses and treats all eye diseases and eye disordersregularly. People with dry mouth should have regular dental exams. Portal hypertension. A health care provider may prescribe a beta-blocker or nitrate to treat portal hypertension. Beta-blockers lower blood pressure by helping the heart beat slower and with less force, and nitrates relax and widen blood vessels to let more blood flow to the heart and reduce the hearts workload. Varices. Beta-blockers can lower the pressure in varices and reduce the likelihood of bleeding. Bleeding in the stomach or esophagus requires an immediate upper endoscopy. This procedure involves using an endoscope to look for varices. The health care provider may use the endoscope to perform a band ligation, a procedure that involves placing a special rubber band around the varices that causes the tissue to die and fall off. A gastroenterologist performs the procedure at a hospital or an outpatient center. People who have had varices in the past may need to take medication to prevent future episodes. Edema and ascites. Health care providers prescribe diureticsmedications that remove fluid from the bodyto treat edema and ascites. A health care provider may remove large amounts of ascitic fluid from the abdomen and check for spontaneous bacterial peritonitis. A health care provider may prescribe bacteria-fighting medications called antibiotics to prevent infection. He or she may prescribe oral antibiotics; however, severe infection with ascites requires intravenous (IV) antibiotics. Hepatic encephalopathy. A health care provider will treat hepatic encephalopathy by cleansing the bowel with lactulose, a laxative given orally or as an enemaa liquid put into the rectum. A health care provider may also add antibiotics to the treatment. Hepatic encephalopathy may improve as other complications of cirrhosis are controlled. Osteoporosis. A health care provider may prescribe bisphosphonate medications to improve bone density. Gallstones and bile duct stones. A health care provider may use surgery to remove gallstones. He or she may use endoscopic retrograde cholangiopancreatography, which uses balloons and basketlike devices, to retrieve the bile duct stones. Liver cancer. A health care provider may recommend screening tests every 6 to 12 months to check for signs of liver cancer. Screening tests can find cancer before the person has symptoms of the disease. Cancer treatment is usually more effective when the health care provider finds the disease early. Health care providers use blood tests, ultrasound, or both to screen for liver cancer in people with cirrhosis. He or she may treat cancer with a combination of surgery, radiation, and chemotherapy.

### Question: How to diagnose Urinary Retention ? ### Answer:

A health care provider diagnoses acute or chronic urinary retention with - a physical exam - postvoid residual measurement A health care provider may use the following medical tests to help determine the cause of urinary retention: - cystoscopy - computerized tomography (CT) scans - urodynamic tests - electromyography Physical Exam A health care provider may suspect urinary retention because of a patients symptoms and, therefore, perform a physical exam of the lower abdomen. The health care provider may be able to feel a distended bladder by lightly tapping on the lower belly. Postvoid Residual Measurement This test measures the amount of urine left in the bladder after urination. The remaining urine is called the postvoid residual. A specially trained technician performs an ultrasound, which uses harmless sound waves to create a picture of the bladder, to measure the postvoid residual. The technician performs the bladder ultrasound in a health care providers office, a radiology center, or a hospital, and a radiologista doctor who specializes in medical imaginginterprets the images. The patient does not need anesthesia. A health care provider may use a cathetera thin, flexible tubeto measure postvoid residual. The health care provider inserts the catheter through the urethra into the bladder, a procedure called catheterization, to drain and measure the amount of remaining urine. A postvoid residual of 100 mL or more indicates the bladder does not empty completely. A health care provider performs this test during an office visit. The patient often receives local anesthesia. Medical Tests Cystoscopy. Cystoscopy is a procedure that requires a tubelike instrument, called a cystoscope, to look inside the urethra and bladder. A health care provider performs cystoscopy during an office visit or in an outpatient center or a hospital. The patient will receive local anesthesia. However, in some cases, the patient may receive sedation and regional or general anesthesia. A health care provider may use cystoscopy to diagnose urethral stricture or look for a bladder stone blocking the opening of the urethra. More information is provided in the NIDDK health topic, Cystoscopy and Ureteroscopy. CT scans. CT scans use a combination of x rays and computer technology to create images. For a CT scan, a health care provider may give the patient a solution to drink and an injection of a special dye, called contrast medium. CT scans require the patient to lie on a table that slides into a tunnel-shaped device where a technician takes the x rays. An x-ray technician performs the procedure in an outpatient center or a hospital, and a radiologist interprets the images. The patient does not need anesthesia. A health care provider may give infants and children a sedative to help them fall asleep for the test. CT scans can show - urinary tract stones - UTIs - tumors - traumatic injuries - abnormal, fluid-containing sacs called cysts Urodynamic tests. Urodynamic tests include a variety of procedures that look at how well the bladder and urethra store and release urine. A health care provider may use one or more urodynamic tests to diagnose urinary retention. The health care provider will perform these tests during an office visit. For tests that use a catheter, the patient often receives local anesthesia. - Uroflowmetry. Uroflowmetry measures urine speed and volume. Special equipment automatically measures the amount of urine and the flow ratehow fast urine comes out. Uroflowmetry equipment includes a device for catching and measuring urine and a computer to record the data. The equipment creates a graph that shows changes in flow rate from second to second so the health care provider can see the highest flow rate and how many seconds it takes to get there. A weak bladder muscle or blocked urine flow will yield an abnormal test result. - Pressure flow study. A pressure flow study measures the bladder pressure required to urinate and the flow rate a given pressure generates. A health care provider places a catheter with a manometer into the bladder. The manometer measures bladder pressure and flow rate as the bladder empties. A pressure flow study helps diagnose bladder outlet obstruction. - Video urodynamics. This test uses x rays or ultrasound to create real-time images of the bladder and urethra during the filling or emptying of the bladder. For x rays, a health care provider passes a catheter through the urethra into the bladder. He or she fills the bladder with contrast medium, which is visible on the video images. Video urodynamic images can show the size and shape of the urinary tract, the flow of urine, and causes of urinary retention, such as bladder neck obstruction. More information is provided in the NIDDK health topic, Urodynamic Testing. Electromyography. Electromyography uses special sensors to measure the electrical activity of the muscles and nerves in and around the bladder and sphincters. A specially trained technician places sensors on the skin near the urethra and rectum or on a urethral or rectal catheter. The sensors record, on a machine, muscle and nerve activity. The patterns of the nerve impulses show whether the messages sent to the bladder and sphincters coordinate correctly. A technician performs electromyography in a health care providers office, an outpatient center, or a hospital. The patient does not need anesthesia if the technician uses sensors placed on the skin. The patient will receive local anesthesia if the technician uses sensors placed on a urethral or rectal catheter.

### Question: What are the stages of Salivary Gland Cancer ? ### Answer:

Key Points - After salivary gland cancer has been diagnosed, tests are done to find out if cancer cells have spread within the salivary gland or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for major salivary gland cancers: - Stage I - Stage II - Stage III - Stage IV After salivary gland cancer has been diagnosed, tests are done to find out if cancer cells have spread within the salivary gland or to other parts of the body. The process used to find out if cancer has spread within the salivary glands or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The following procedures may be used in the staging process: - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. There are three ways that cancer spreads in the body. Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. Cancer may spread from where it began to other parts of the body. When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if salivary gland cancer spreads to the lung, the cancer cells in the lung are actually salivary gland cancer cells. The disease is metastatic salivary gland cancer, not lung cancer. The following stages are used for major salivary gland cancers: Stage I In stage I, the tumor is in the salivary gland only and is 2 centimeters or smaller. Stage II In stage II, the tumor is in the salivary gland only and is larger than 2 centimeters but not larger than 4 centimeters. Stage III In stage III, one of the following is true: - The tumor is not larger than 4 centimeters and has spread to a single lymph node on the same side as the tumor and the lymph node is 3 centimeters or smaller. - The tumor is larger than 4 centimeters and/or has spread to soft tissue around the affected gland. Cancer may have spread to a single lymph node on the same side as the tumor and the lymph node is 3 centimeters or smaller. Stage IV Stage IV is divided into stages IVA, IVB, and IVC as follows: - Stage IVA: - The tumor may be any size and may have spread to soft tissue around the affected gland. Cancer has spread to a single lymph node on the same side as the tumor and the lymph node is larger than 3 centimeters but not larger than 6 centimeters, or has spread to more than one lymph node on either or both sides of the body and the lymph nodes are not larger than 6 centimeters; or - Cancer has spread to the skin, jawbone, ear canal, and/or facial nerve, and may have spread to one or more lymph nodes on either or both sides of the body. The lymph nodes are not larger than 6 centimeters. - Stage IVB: - The tumor may be any size and may have spread to soft tissue around the affected gland. Cancer has spread to a lymph node larger than 6 centimeters; or - Cancer has spread to the base of the skull and/or the carotid artery, and may have spread to one or more lymph nodes of any size on either or both sides of the body. - Stage IVC: - The tumor may be any size and may have spread to soft tissue around the affected gland, to the skin, jawbone, ear canal, facial nerve, base of the skull, or carotid artery, or to one or more lymph nodes on either or both sides of the body. Cancer has spread to distant parts of the body. Salivary gland cancers are also grouped by grade. The grade of a tumor tells how fast the cancer cells are growing, based on how the cells look under a microscope. Low-grade cancers grow more slowly than high-grade cancers. Minor salivary gland cancers are staged according to where they were first found in the body.

### Question: What are the symptoms of Robinow syndrome ? ### Answer:

What are the signs and symptoms of Robinow syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Robinow syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Short stature 97% Anteverted nares 95% Short nose 95% Abnormality of dental morphology 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Dental malocclusion 90% Downturned corners of mouth 90% Hypertelorism 90% Hypoplasia of penis 90% Malar flattening 90% Micromelia 90% Short distal phalanx of finger 90% Vertebral segmentation defect 90% Wide mouth 90% Small hand 84% Depressed nasal bridge 78% Bifid tongue 59% Long eyelashes 59% High palate 52% Abnormality of female external genitalia 50% Abnormality of the eyelashes 50% Abnormality of the fingernails 50% Abnormality of the ribs 50% Abnormality of thumb phalanx 50% Cryptorchidism 50% Elbow dislocation 50% Epicanthus 50% Frontal bossing 50% Gingival overgrowth 50% Hearing impairment 50% Kyphosis 50% Long palpebral fissure 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Macrocephaly 50% Otitis media 50% Pectus excavatum 50% Preaxial foot polydactyly 50% Proptosis 50% Scoliosis 50% Tented upper lip vermilion 50% Umbilical hernia 50% Upslanted palpebral fissure 50% Narrow palate 46% Low-set ears 45% Retrognathia 44% Nail dysplasia 35% Oral cleft 35% Rhizomelia 35% Short neck 31% Abnormality of the aorta 7.5% Abnormality of the hip bone 7.5% Abnormality of the palate 7.5% Abnormality of the pulmonary valve 7.5% Abnormality of the tricuspid valve 7.5% Alopecia 7.5% Atria septal defect 7.5% Blue sclerae 7.5% Camptodactyly of finger 7.5% Cognitive impairment 7.5% Ectopic anus 7.5% Exaggerated cupid's bow 7.5% Finger syndactyly 7.5% Increased number of teeth 7.5% Multicystic kidney dysplasia 7.5% Pectus carinatum 7.5% Ptosis 7.5% Recurrent respiratory infections 7.5% Reduced number of teeth 7.5% Sacral dimple 7.5% Sandal gap 7.5% Short philtrum 7.5% Single transverse palmar crease 7.5% Split hand 7.5% Strabismus 7.5% Synostosis of carpal bones 7.5% Tetralogy of Fallot 7.5% Toe syndactyly 7.5% Ventricular septal defect 7.5% Absent uvula - Aplasia/Hypoplasia involving the metacarpal bones - Autosomal dominant inheritance - Autosomal recessive inheritance - Bifid distal phalanx of toe - Broad thumb - Broad toe - Clinodactyly - Clitoral hypoplasia - Delayed cranial suture closure - Delayed eruption of permanent teeth - Delayed eruption of teeth - Delayed skeletal maturation - Dental crowding - Duplication of the distal phalanx of hand - Flat face - Hydronephrosis - Hypoplasia of midface - Hypoplastic labia majora - Hypoplastic sacrum - Inguinal hernia - Intellectual disability - Macroglossia - Mesomelia - Micropenis - Missing ribs - Nevus flammeus - Posteriorly rotated ears - Radial deviation of finger - Renal duplication - Rib fusion - Right ventricular outlet obstruction - Short hard palate - Short middle phalanx of the 5th finger - Short palm - Thoracic hemivertebrae - Thoracolumbar scoliosis - Triangular mouth - Vertebral fusion - Wide anterior fontanel - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

### Question: How to diagnose What I need to know about Crohn's Disease ? ### Answer:

A doctor will perform a physical exam and tests to diagnose Crohns disease. During your visit, the doctor will ask about your symptoms and medical history. The doctor may order blood tests, which involve drawing blood at a health care providers office or commercial facility and sending the sample to a lab for analysis. Blood tests can show anemia caused by bleeding. Anemia is a condition in which red blood cells are fewer or smaller than normal, which means less oxygen is carried to the bodys cells. Blood tests can also show a high white blood cell count, a sign of chronic inflammation. You may also be asked for a stool sample. A stool test is commonly used to rule out other causes of GI diseases, such as infections. The doctor will give you a container for catching and storing the stool. The sample is returned to the doctor or a commercial facility and sent to a lab for analysis. A stool sample can also be used to check if you have bleeding or inflammation. Other tests may be needed to diagnose Crohn's disease. The following tests are all performed at a hospital or outpatient center. - Colonoscopy. Colonoscopy is the most commonly used test to specifically diagnose Crohns disease. This test is used to look inside your rectum, entire colon, and ileum. The health care provider will give you written bowel prep instructions to follow at home before the test. You may need to follow a clear liquid diet for 1 to 3 days before the test. You will need to take laxatives and enemas the evening before the test, and you will likely have one or more enemas about 2 hours before the test. A laxative is medicine that loosens stool and increases bowel movements. An enema involves flushing water, laxative, or sometimes a mild soap solution into the anus using a special squirt bottle. For the test, you will lie on a table while the doctor inserts a flexible tube into your anus. A small camera on the tube sends a video image of the intestinal lining to a computer screen. The doctor can see inflammation, ulcers, or bleeding. The doctor may also perform a biopsy. The doctor will look at the tissue with a microscope to confirm the diagnosis of Crohns disease. In most cases, youll be given a light sedative, and possibly pain medicine, to help you relax. You will not feel the biopsy. Cramping or bloating may occur during the first hour after the test. Driving is not permitted for 24 hours after the test to allow the sedative time to wear off. Before the appointment, you should make plans for a ride home. By the next day, you should fully recover and go back to your normal diet. - Flexible sigmoidoscopy. This test is used to look inside the rectum and lower colon. The health care provider will give you written bowel prep instructions to follow at home before the test. You may need to follow a clear liquid diet for 1 to 3 days before the test. You may also need a laxative or enema the night before the test. And youll have one or more enemas about 2 hours before the procedure. For the test, you will lie on a table while the doctor inserts a flexible tube into your anus. You will not need a sedative for the test. A small camera on the tube sends a video image of the intestinal lining to a computer screen. The doctor can see inflammation, ulcers, or bleeding. The doctor may also perform a biopsy by snipping a bit of tissue from the intestinal lining. The doctor will look at the tissue with a microscope to confirm the diagnosis of Crohns disease. You will not feel the biopsy. You can usually go back to your normal diet after the test, though you may have cramping or bloating during the first hour after the test. - Computerized tomography (CT) scan. A CT scan uses x rays and computers to create images of the inside of the body. For the test, you will lie on a table that slides into a tunnel-shaped device where the x rays are taken. The technician may give you a solution to drink and an injection of a special dye through a needle inserted into an arm vein. You will not need a sedative for the test. CT scans can be used to help diagnose Crohn's disease. - Upper GI series (x rays). An upper GI series may be done to look at the small intestine. No eating or drinking is allowed for 8 hours before the procedure. You will not need a sedative for the test. During the procedure, you will stand or sit in front of an x-ray machine and drink barium, a chalky liquid. The barium coats the small intestine, making signs of the disease show up more clearly on x rays. After the test, you may go back to your normal diet, though you may have nausea or bloating for a short time. Traces of barium in the GI tract cause stools to be white or light colored for a few days after the test. - Lower GI series (x rays). A lower GI series may be done to look at the large intestine. The health care provider will give you written bowel prep instructions to follow at home before the test. You will be asked to follow a clear liquid diet for 1 to 3 days before the test. A laxative or enema is usually used the evening before a lower GI series. Enemas are sometimes repeated the morning of the test. For the test, you will lie on a table while the doctor inserts a flexible tube into your anus. You will not need a sedative for the test. The large intestine is filled with barium, making signs of the disease show up more clearly on x rays. After the test, you may go back to your normal diet, though you may have bloating. You also may have some soreness of the anus. Traces of barium in the GI tract cause stools to be white or light colored for a few days after the test.

### Question: How to prevent Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes ? ### Answer:

Yes. The results of the Diabetes Prevention Program (DPP) proved that weight loss through moderate diet changes and physical activity can delay or prevent type 2 diabetes. The DPP was a federally funded study of 3,234 people at high risk for diabetes. This study showed that a 5-to 7-percent weight loss, which for a 200-pound person would be 10 to 14 pounds, slowed development of type 2 diabetes. People at High Risk for Diabetes DPP study participants were overweight and had higher than normal levels of blood glucose, a condition called prediabetes. Many had family members with type 2 diabetes. Prediabetes, obesity, and a family history of diabetes are strong risk factors for type 2 diabetes. About half of the DPP participants were from minority groups with high rates of diabetes, including African Americans, Alaska Natives, American Indians, Asian Americans, Hispanics/Latinos, and Pacific Islander Americans. DPP participants also included others at high risk for developing type 2 diabetes, such as women with a history of gestational diabetes and people age 60 and older. Approaches to Preventing Diabetes The DPP tested three approaches to preventing diabetes: - Making lifestyle changes. People in the lifestyle change group exercised, usually by walking 5 days a week for about 30 minutes a day, and lowered their intake of fat and calories. - Taking the diabetes medicine metformin. Those who took metformin also received information about physical activity and diet. - Receiving education about diabetes. The third group only received information about physical activity and diet and took a placeboa pill without medicine in it. People in the lifestyle change group showed the best outcomes. But people who took metformin also benefited. The results showed that by losing an average of 15 pounds in the first year of the study, people in the lifestyle change group reduced their risk of developing type 2 diabetes by 58 percent over 3 years. Lifestyle change was even more effective in those age 60 and older. People in this group reduced their risk by 71 percent. But people in the metformin group also benefited, reducing their risk by 31 percent. More information about the DPP, funded under National Institutes of Health (NIH) clinical trial number NCT00004992, is available at www.bsc.gwu.edu/dpp. Lasting Results The Diabetes Prevention Program Outcomes Study (DPPOS) has shown that the benefits of weight loss and metformin last for at least 10 years. The DPPOS has continued to follow most DPP participants since the DPP ended in 2001. The DPPOS showed that 10 years after enrolling in the DPP, - people in the lifestyle change group reduced their risk for developing diabetes by 34 percent - those in the lifestyle change group age 60 or older had even greater benefit, reducing their risk of developing diabetes by 49 percent - participants in the lifestyle change group also had fewer heart and blood vessel disease risk factors, including lower blood pressure and triglyceride levels, even though they took fewer medicines to control their heart disease risk - the metformin group reduced the risk of developing diabetes by 18 percent Even though controlling your weight with lifestyle changes is challenging, it produces long-term health rewards by lowering your risk for type 2 diabetes, lowering your blood glucose levels, and reducing other heart disease risk factors. More information about the DPPOS, funded under NIH clinical trial number NCT00038727, can be found at www.bsc.gwu.edu/dpp. Other Types of Diabetes In addition to type 2, the other main types of diabetes are type 1 diabetes and gestational diabetes. Type 1 Diabetes Type 1 diabetes, formerly called juvenile diabetes, is usually first diagnosed in children, teenagers, and young adults. In this type of diabetes, your pancreas can no longer make insulin because your bodys immune system has attacked and destroyed the cells that make it. Treatment for type 1 diabetes includes taking insulin shots or using an insulin pump, making wise food choices, being physically active on a regular basis, controlling blood pressure and cholesterol, and, for some, taking aspirin daily. Gestational Diabetes Gestational diabetes is a type of diabetes that develops only during pregnancy. Hormones produced by your placenta and other pregnancy-related factors contribute to insulin resistance, which occurs in all women during late pregnancy. Insulin resistance increases the amount of insulin needed to control blood glucose levels. If your pancreas cant produce enough insulin, gestational diabetes occurs. As with type 2 diabetes, excess weight is linked to gestational diabetes. Overweight or obese women are at particularly high risk for gestational diabetes because they start pregnancy with a higher need for insulin due to insulin resistance. Excessive weight gain during pregnancy may also increase risk. Gestational diabetes occurs more often in some ethnic groups and among women with a family history of diabetes. Although gestational diabetes usually goes away after the baby is born, a woman who has had gestational diabetes is more likely to develop type 2 diabetes later in life. Babies born to mothers who had gestational diabetes are also more likely to develop obesity and type 2 diabetes as they grow up.

### Question: What are the stages of Transitional Cell Cancer of the Renal Pelvis and Ureter ? ### Answer:

Key Points - After transitional cell cancer of the renal pelvis and ureter has been diagnosed, tests are done to find out if cancer cells have spread within the renal pelvis and ureter or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for transitional cell cancer of the renal pelvis and/or ureter: - Stage 0 (Papillary Carcinoma and Carcinoma in Situ) - Stage I - Stage II - Stage III - Stage IV - Transitional cell cancer of the renal pelvis and ureter is also described as localized, regional, or metastatic: - Localized - Regional - Metastatic After transitional cell cancer of the renal pelvis and ureter has been diagnosed, tests are done to find out if cancer cells have spread within the renal pelvis and ureter or to other parts of the body. The process used to find out if cancer has spread within the renal pelvis and ureter or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The following tests and procedures may be used in the staging process: - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - Ureteroscopy : A procedure to look inside the ureter and renal pelvis to check for abnormal areas. A ureteroscope is a thin, tube-like instrument with a light and a lens for viewing. The ureteroscope is inserted through the urethra into the bladder, ureter, and renal pelvis. A tool may be inserted through the ureteroscope to take tissue samples to be checked under a microscope for signs of disease. There are three ways that cancer spreads in the body. Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. Cancer may spread from where it began to other parts of the body. When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if transitional cell cancer of the ureter spreads to the lung, the cancer cells in the lung are actually ureter cancer cells. The disease is metastatic cancer of the ureter, not lung cancer. The following stages are used for transitional cell cancer of the renal pelvis and/or ureter: Stage 0 (Papillary Carcinoma and Carcinoma in Situ) In stage 0, abnormal cells are found in tissue lining the inside of the renal pelvis or ureter. These abnormal cells may become cancer and spread into nearby normal tissue. Stage 0 is divided into stage 0a and stage 0is, depending on the type of tumor: - Stage 0a may look like tiny mushrooms growing from the tissue lining the inside of the renal pelvis or ureter. Stage 0a is also called noninvasive papillary carcinoma. - Stage 0is is a flat tumor on the tissue lining the inside of the renal pelvis or ureter. Stage 0is is also called carcinoma in situ. Stage I In stage I, cancer has formed and spread through the lining of the renal pelvis and/or ureter, into the layer of connective tissue. Stage II In stage II, cancer has spread through the layer of connective tissue to the muscle layer of the renal pelvis and/or ureter. Stage III In stage III, cancer has spread: - From the renal pelvis to tissue or fat in the kidney; or - From the ureter to fat that surrounds the ureter. Stage IV In stage IV, cancer has spread to at least one of the following: - A nearby organ. - The layer of fat surrounding the kidney. - One or more lymph nodes. - Distant parts of the body, such as the lung, liver, or bone. Transitional cell cancer of the renal pelvis and ureter is also described as localized, regional, or metastatic: Localized The cancer is found only in the kidney. Regional The cancer has spread to tissues around the kidney and to nearby lymph nodes and blood vessels in the pelvis. Metastatic The cancer has spread to other parts of the body.

### Question: What are the treatments for Bronchiectasis ? ### Answer:

Bronchiectasis often is treated with medicines, hydration, and chest physical therapy (CPT). Your doctor may recommend surgery if the bronchiectasis is isolated to a section of lung or you have a lot of bleeding. If the bronchiectasis is widespread and causing respiratory failure, your doctor may recommend oxygen therapy. The goals of treatment are to: Treat any underlying conditions and lung infections. Remove mucus (a slimy substance) from your lungs. Maintaining good hydration helps with mucus removal. Prevent complications. Early diagnosis and treatment of the underlying cause of bronchiectasis may help prevent further lung damage. In addition, any disease associated with the bronchiectasis, such as cystic fibrosisor immunodeficiency, also should be treated. Medicines Your doctor may prescribe antibiotics, bronchodilators, expectorants, or mucus-thinning medicines to treat bronchiectasis. Antibiotics Antibiotics are the main treatment for the repeated lung infections that bronchiectasis causes. Oral antibiotics often are used to treat these infections. For hard-to-treat infections, your doctor may prescribe intravenous (IV) antibiotics. These medicines are given through an IV line inserted into your arm. Your doctor may help you arrange for a home care provider to give you IV antibiotics at home. Expectorants and Mucus-Thinning Medicines Your doctor may prescribe expectorants and mucus thinners to help you cough up mucus. Expectorants help loosen the mucus in your lungs. They often are combined with decongestants, which may provide extra relief. Mucus thinners, such as acetylcysteine, loosen the mucus to make it easier to cough up. For some of these treatments, little information is available to show how well they work. Hydration Drinking plenty of fluid, especially water, helps prevent airway mucus from becoming thick and sticky. Good hydration helps keep airway mucus moist and slippery, which makes it easier to cough up. Chest Physical Therapy CPT also is called physiotherapy (FIZ-e-o-THER-ah-pe) or chest clapping or percussion. This technique is generally performed by a respiratory therapist but can be done by a trained member of the family. It involves the therapist pounding your chest and back over and over with his or her hands or a device. Doing this helps loosen the mucus from your lungs so you can cough it up. You can sit with your head tilted down or lie on your stomach with your head down while you do CPT. Gravity and force help drain the mucus from your lungs. Some people find CPT hard or uncomfortable to do. Several devices can help with CPT, such as: An electric chest clapper, known as a mechanical percussor. An inflatable therapy vest that uses high-frequency air waves to force mucus toward your upper airways so you can cough it up. A small handheld device that you breathe out through. It causes vibrations that dislodge the mucus. A mask that creates vibrations to help break loose mucus from your airway walls. Some of these methods and devices are popular with patients and doctors, but little information is available on how well they actually work. Choice usually is based on convenience and cost. Several breathing techniques also are used to help move mucus to the upper airway so it can be coughed up. These techniques include forced expiration technique (FET) and active cycle breathing (ACB). FET involves forcing out a couple of breaths and then doing relaxed breathing. ACB is FET that involves deep breathing exercises. Other Treatments Depending on your condition, your doctor also may recommend bronchodilators, inhaled corticosteroids, oxygen therapy, or surgery. Bronchodilators Bronchodilators relax the muscles around your airways. This helps open your airways and makes breathing easier. Most bronchodilators are inhaled medicines. You will use an inhaler or a nebulizer to breathe in a fine mist of medicine. Inhaled bronchodilators work quickly because the medicine goes straight to your lungs. Your doctor may recommend that you use a bronchodilator right before you do CPT. Inhaled Corticosteroids If you also have wheezing or asthma with your bronchiectasis, your doctor may prescribe inhaled corticosteroids (used to treat inflammation in the airways). Oxygen Therapy Oxygen therapy can help raise low blood oxygen levels. For this treatment, you'll receive oxygen through nasal prongs or a mask. Oxygen therapy can be done at home, in a hospital, or in another health facility. (For more information, go to the Health Topics Oxygen Therapy article.) Surgery Your doctor may recommend surgery if no other treatments have helped and only one part of your airway is affected. If you have major bleeding in your airway, your doctor may recommend surgery to remove part of your airway or a procedure to control the bleeding. In very rare instances of severe bronchiectasis, your doctor may recommend that you receive a lung transplant replacing your diseased lungs with a healthy set of lungs.

### Question: How to prevent Diabetic Kidney Disease ? ### Answer:

People can prevent or slow the progression of diabetic kidney disease by - taking medications to control high blood pressure - managing blood glucose levels - making changes in their eating, diet, and nutrition - losing weight if they are overweight or obese - getting regular physical activity People with diabetes should see a health care provider who will help them learn to manage their diabetes and monitor their diabetes control. Most people with diabetes get care from primary care providers, including internists, family practice doctors, or pediatricians. However, having a team of health care providers can often improve diabetes care. In addition to a primary care provider, the team can include - an endocrinologista doctor with special training in diabetes - a nephrologista doctor who specializes in treating people who have kidney problems or related conditions - diabetes educators such as a nurse or dietitian - a podiatrista doctor who specializes in foot care - an ophthalmologist or optometrist for eye care - a pharmacist - a dentist - a mental health counselor for emotional support and access to community resources The team can also include other health care providers and specialists. Blood Pressure Medications Medications that lower blood pressure can also significantly slow the progression of kidney disease. Two types of blood pressure-lowering medications, angiotensinconverting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs), have been shown to slow the progression of kidney disease. Many people require two or more medications to control their blood pressure. In addition to an ACE inhibitor or an ARB, a health care provider may prescribe a diuretica medication that helps the kidneys remove fluid from the blood. A person may also need beta-blockers, calcium channel blockers, and other blood pressure medications. People should talk with their health care provider about their individual blood pressure goals and how often they should have their blood pressure checked. Managing Blood Glucose Levels People manage blood glucose levels by - testing blood glucose throughout the day - following a diet and physical activity plan - taking insulin throughout the day based on food and liquid intake and physical activity People with diabetes need to talk with their health care team regularly and follow their directions closely. The goal is to keep blood glucose levels within the normal range or within a range set by the persons health care team. More information about diabetes is provided in the NIDDK health topics: - National Diabetes Statistics Report, 2014 - Diagnosis of Diabetes and Prediabetes Eating, Diet, and Nutrition Following a healthy eating plan can help lower blood pressure and control blood sugar. A health care provider may recommend the Dietary Approaches to Stop Hypertension (DASH) eating plan. DASH focuses on fruits, vegetables, whole grains, and other foods that are heart healthy and lower in sodium, which often comes from salt. The DASH eating plan - is low in fat and cholesterol - features fat-free or low-fat milk and dairy products, fish, poultry, and nuts - suggests less red meat, and fewer sweets, added sugars, and sugarcontaining beverages - is rich in nutrients, protein, and fiber Read more about DASH at www.nhlbi.nih.gov/health/health-topics/topics/dash. People with diabetic kidney disease may need to limit sodium and salt intake to help reduce edema and lower blood pressure. A dietitian may also recommend a diet low in saturated fat and cholesterol to help control high levels of lipids, or fats, in the blood. Health care providers may recommend that people with CKD eat moderate or reduced amounts of protein, though the benefits of reducing protein in a persons diet are still being researched. Proteins break down into waste products the kidneys must filter from the blood. Eating more protein than the body needs may burden the kidneys and cause kidney function to decline faster. However, protein intake that is too low may lead to malnutrition, a condition that occurs when the body does not get enough nutrients. More information about diabetes and diet is provided in the NIDDK health topics: - What I need to know about Eating and Diabetes and What I need to know about Carbohydrate Counting and Diabetes - Make the Kidney Connection: Food Tips and Healthy Eating Ideas and Eating Right for Kidney Health: Tips for People with Chronic Kidney Disease. Weight Loss and Physical Activity Health care providers recommend that people who are overweight or obese lose weight to improve their bodies ability to use insulin properly and lower their risk for health problems related to high blood pressure. Overweight is defined as a body mass index (BMI)a measurement of weight in relation to heightof 25 to 29. A BMI of 30 or higher is considered obese. People should aim to keep their BMI lower than 25.4 Experts recommend physical activity as an important part of losing weight, keeping sensitivity to insulin, and treating high blood pressure. Most people should try to get at least 30 to 60 minutes of activity most or all days of the week. A person can do all physical activity at once or break up activities into shorter periods of at least 10 minutes each. Moderate activities include brisk walking, dancing, bowling, riding a bike, working in a garden, and cleaning the house. More information is provided in the NIDDK health topic, What I need to know about Physical Activity and Diabetes.

### Question: What are the symptoms of Hallermann-Streiff syndrome ? ### Answer:

What are the signs and symptoms of Hallermann-Streiff syndrome? The signs and symptoms of Hallermann-Streiff syndrome vary in range and severity among affected individuals. The main features of the condition include abnormalities of the skull and facial bones with distinctive facial characteristics (craniofacial abnormalities); ocular (eye) abnormalities; dental abnormalities; and/or short stature. Craniofacial features may include a short, broad head (brachycephaly) with an unusually prominent forehead and/or sides of the skull (frontal bossing); a small, underdeveloped lower jaw (micrognathia); a narrow, highly arched roof of the mouth (palate); and a thin, pinched, tapering nose (beaked nose). Ocular abnormalities may include clouding of the lenses of the eyes at birth (congenital cataracts); unusually small eyes (microphthalmia); and/or other abnormalities. Dental defects may include the presence of teeth at birth (natal teeth) and/or absence, malformation, or improper alignment of teeth. Hypotrichosis (sparse hair) is present in about 80 percent of affected individuals. Other features may include skin atrophy of the face, and/or hypoplasia (underdevelopment) of the clavicles and ribs. Intellectual disability is present in some cases (approximately 15 percent). In many cases, additional abnormalities are present. The Human Phenotype Ontology provides the following list of signs and symptoms for Hallermann-Streiff syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the clavicle 90% Abnormality of the ribs 90% Alopecia 90% Aplasia/Hypoplasia affecting the eye 90% Aplasia/Hypoplasia of the skin 90% Cataract 90% Convex nasal ridge 90% Frontal bossing 90% Reduced bone mineral density 90% Short stature 90% Abnormality of hair texture 50% Abnormality of the fontanelles or cranial sutures 50% Abnormality of the nares 50% Abnormality of the palate 50% Advanced eruption of teeth 50% Glossoptosis 50% Hypoplasia of the zygomatic bone 50% Increased number of teeth 50% Narrow mouth 50% Recurrent fractures 50% Telecanthus 50% Visual impairment 50% Intellectual disability 15% Abdominal situs inversus 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Choanal atresia 7.5% Clinodactyly of the 5th finger 7.5% Cognitive impairment 7.5% Congestive heart failure 7.5% Cryptorchidism 7.5% Glaucoma 7.5% Hypothyroidism 7.5% Inflammatory abnormality of the eye 7.5% Microcephaly 7.5% Myopia 7.5% Nystagmus 7.5% Respiratory insufficiency 7.5% Short foot 7.5% Short palm 7.5% Strabismus 7.5% Tracheomalacia 7.5% Abnormality of the hand - Abnormality of the nasopharynx - Blue sclerae - Brachycephaly - Choreoathetosis - Chorioretinal coloboma - Decreased number of sternal ossification centers - Dental malocclusion - Dermal atrophy - Dolichocephaly - Dry skin - Fine hair - Generalized tonic-clonic seizures - High palate - Hyperactivity - Hyperlordosis - Hypotrichosis of the scalp - Iris coloboma - Joint hypermobility - Low-set ears - Malar flattening - Metaphyseal widening - Microphthalmia - Narrow nose - Narrow palate - Natal tooth - Obstructive sleep apnea - Optic nerve coloboma - Parietal bossing - Pectus excavatum - Platybasia - Proportionate short stature - Pulmonary hypertension - Recurrent pneumonia - Recurrent respiratory infections - Scoliosis - Selective tooth agenesis - Slender long bone - Small for gestational age - Sparse eyebrow - Sparse eyelashes - Sparse hair - Spina bifida - Sporadic - Telangiectasia - Thin calvarium - Thin ribs - Thin vermilion border - Underdeveloped nasal alae - Wormian bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

### Question: What are the treatments for Cirrhosis ? ### Answer:

Treatment for cirrhosis depends on the cause of the disease and whether complications are present. In the early stages of cirrhosis, the goals of treatment are to slow the progression of tissue scarring in the liver and prevent complications. As cirrhosis progresses, a person may need additional treatments and hospitalization to manage complications. Treatment may include the following: Avoiding Alcohol and Illegal Substances People with cirrhosis should not drink any alcohol or take any illegal substances, as both will cause more liver damage. Preventing Problems with Medications People with cirrhosis should be careful about starting new medications and should consult a health care provider before taking prescription medications, over-the-counter medications, or vitamins. People with cirrhosis should avoid complementary and alternative medications, such as herbs. Cirrhosis slows the livers ability to filter medications from the blood. When this slowdown occurs, medications act longer than expected and build up in the body. Some medications and vitamins may also affect liver function. Viral Hepatitis Vaccination and Screening All people with cirrhosis should consider vaccination against hepatitis A and B. An infection with one of these hepatitis viruses can cause cirrhosis to get worse. Vaccination can easily prevent both infections. People with cirrhosis should also get a screening blood test for hepatitis C. Treating Causes of Cirrhosis Health care providers can treat some causes of cirrhosis, for example, by prescribing antiviral medications for hepatitis B and C. In some instances, these medications cure the viral infection. Health care providers treat autoimmune hepatitis with corticosteroids and other medications that suppress the immune system. Health care providers can treat hemochromatosis and Wilson diseaseinherited forms of liver disease caused by the buildup of iron or copper in the liverif detected early. Health care providers usually treat liver diseases due to blockage or loss of bile ducts with ursodiol (Actigall, Urso). Ursodiol is a nontoxic bile acid that people can take orally. Ursodiol replaces the bile acids that are normally produced by the liver, which are toxic and build up in the liver when the bile ducts are blocked. Treating Symptoms and Complications of Cirrhosis Itching and abdominal pain. A health care provider may give medications to treat various symptoms of cirrhosis, such as itching and abdominal pain. Portal hypertension. A health care provider may prescribe a beta-blocker or nitrate to treat portal hypertension. Beta-blockers lower blood pressure by helping the heart beat slower and with less force, and nitrates relax and widen blood vessels to let more blood flow to the heart and reduce the hearts workload. Varices. Beta-blockers can lower the pressure in varices and reduce the likelihood of bleeding. Bleeding in the stomach or esophagus requires an immediate upper endoscopy. This procedure involves using an endoscopea small, flexible tube with a lightto look for varices. The health care provider may use the endoscope to perform a band ligation, a procedure that involves placing a special rubber band around the varices that causes the tissue to die and fall off. A gastroenterologista doctor who specializes in digestive diseasesperforms the procedure at a hospital or an outpatient center. People who have had varices in the past may need to take medication to prevent future episodes. Edema and ascites. Health care providers prescribe diureticsmedications that remove fluid from the bodyto treat edema and ascites. A health care provider may remove large amounts of ascitic fluid from the abdomen and check for spontaneous bacterial peritonitis. A health care provider may prescribe bacteria-fighting medications called antibiotics to prevent infection. He or she may prescribe oral antibiotics; however, severe infection with ascites requires intravenous (IV) antibiotics. Hepatic encephalopathy. A health care provider treats hepatic encephalopathy by cleansing the bowel with lactulose, a laxative given orally or as an enemaa liquid put into the rectum. A health care provider may also add antibiotics to the treatment. Hepatic encephalopathy may improve as other complications of cirrhosis are controlled. Hepatorenal syndrome. Some people with cirrhosis who develop hepatorenal syndrome must undergo regular dialysis treatment, which filters wastes and extra fluid from the body by means other than the kidneys. People may also need medications to improve blood flow through the kidneys. Osteoporosis. A health care provider may prescribe bisphosphonate medications to improve bone density. Gallstones and bile duct stones. A health care provider may use surgery to remove gallstones. He or she may use endoscopic retrograde cholangiopancreatography, which uses balloons and basketlike devices, to retrieve the bile duct stones. Liver cancer. A health care provider may recommend screening tests every 6 to 12 months to check for signs of liver cancer. Screening tests can find cancer before the person has symptoms of the disease. Cancer treatment is usually more effective when the health care provider finds the disease early. Health care providers use blood tests, ultrasound, or both to screen for liver cancer in people with cirrhosis. He or she may treat cancer with a combination of surgery, radiation, and chemotherapy.

### Question: What are the symptoms of Nevoid basal cell carcinoma syndrome ? ### Answer:

What are the signs and symptoms of Nevoid basal cell carcinoma syndrome? Many different features have been described in people with nevoid basal cell carcinoma syndrome (NBCCS). These features are highly variable, even within affected members of the same family. Signs and symptoms in affected people may include: large head size (macrocephaly), large forehead (bossing of the forehead), coarse facial features, and/or facial milia (bumps on the skin that look like clogged pores or whiteheads) skeletal abnormalities of the ribs and/or spine (bifid ribs, wedge-shaped vertebrae) medulloblastoma (childhood brain tumor) in about 5% of affected children multiple jaw keratocysts (usually in the second decade of life) basal cell carcinoma sebaceous and dermoid cysts cardiac and ovarian fibromas The Human Phenotype Ontology provides the following list of signs and symptoms for Nevoid basal cell carcinoma syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bone cyst 90% Melanocytic nevus 90% Neoplasm of the skin 90% Osteolysis 90% Sacrococcygeal pilonidal abnormality 90% Skin ulcer 90% Abnormal form of the vertebral bodies 50% Abnormality of the neck 50% Brachydactyly syndrome 50% Frontal bossing 50% Intestinal polyposis 50% Macrocephaly 50% Palmoplantar keratoderma 50% Polycystic ovaries 50% Scoliosis 50% Spina bifida occulta 50% Wide nasal bridge 50% Abnormality of dental enamel 7.5% Abnormality of the carotid arteries 7.5% Abnormality of the metacarpal bones 7.5% Abnormality of the pleura 7.5% Abnormality of the ribs 7.5% Abnormality of the sense of smell 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Arachnodactyly 7.5% Bronchogenic cyst 7.5% Carious teeth 7.5% Cataract 7.5% Chorea 7.5% Cognitive impairment 7.5% Conductive hearing impairment 7.5% Cryptorchidism 7.5% Epicanthus 7.5% Finger syndactyly 7.5% Glaucoma 7.5% Glioma 7.5% Gynecomastia 7.5% Hand polydactyly 7.5% Hydrocephalus 7.5% Hypertelorism 7.5% Iris coloboma 7.5% Mandibular prognathia 7.5% Medulloblastoma 7.5% Meningioma 7.5% Neoplasm of the heart 7.5% Nystagmus 7.5% Optic nerve coloboma 7.5% Oral cleft 7.5% Ovarian neoplasm 7.5% Proptosis 7.5% Renal cyst 7.5% Sarcoma 7.5% Seizures 7.5% Strabismus 7.5% Tall stature 7.5% Telecanthus 7.5% Vertebral segmentation defect 7.5% Visual impairment 7.5% Intellectual disability 5% Abnormality of the sternum - Autosomal dominant inheritance - Basal cell carcinoma - Bifid ribs - Bridged sella turcica - Calcification of falx cerebri - Cardiac fibroma - Cardiac rhabdomyoma - Cleft palate - Cleft upper lip - Coarse facial features - Down-sloping shoulders - Hamartomatous stomach polyps - Hemivertebrae - Heterogeneous - Irregular ossification of hand bones - Kyphoscoliosis - Microphthalmia - Milia - Motor delay - Odontogenic keratocysts of the jaw - Orbital cyst - Ovarian fibroma - Palmar pits - Parietal bossing - Plantar pits - Polydactyly - Short 4th metacarpal - Short distal phalanx of the thumb - Short ribs - Skin tags - Spina bifida - Sprengel anomaly - Supernumerary ribs - Variable expressivity - Vertebral fusion - Vertebral wedging - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

### Question: What causes Chronic Fatigue Syndrome (CFS) ? ### Answer:

Despite a vigorous search, scientists have not yet identified what causes CFS. While a single cause for CFS may yet be identified, another possibility is that CFS has multiple causes. Conditions that have been studied to determine if they cause or trigger the development of CFS include infections, immune disorders, stress, trauma, and toxins. Infection Various types of infections have been studied to determine if they might cause or trigger CFS: - Candida albicans, a fungus that causes yeast infections - Mycoplasma, a cause of atypical pneumonia - Ross River virus, which causes Ross River Fever, a mosquito-borne tropical disease Could One Type of Infection Lead to CFS? Researchers from around the world have studied if a single type of infection might be the cause of CFS, analyzed the data, and not yet found any association between CFS and infection. Researchers are still analyzing samples from CFS patients using the latest molecular methods to search for previously unknown infections (pathogen discovery). To date, these studies suggest that no one infection or pathogen causes CFS and that the illness may be triggered by a variety of illnesses or conditions. In fact, infection with Epstein-Barr virus, Ross River virus, and Coxiella burnetti will lead to a post-infective condition that meets the criteria for CFS in approximately 10-12% of cases. People who had severe symptoms when they became infected were more likely than those with mild symptoms to later develop CFS symptoms. The possibility remains that there may be a variety of different ways in which patients can develop CFS. Immune System and Allergies Studies have looked to see if changes in a person's immune system might lead to CFS. The findings have been mixed. Similarities in symptoms from immune responses to infection and CFS lead to hypotheses that CFS may be caused by stress or a viral infection, which may lead to the chronic production of cytokines and then to CFS. Antibodies against normal parts of the body (auto-antibodies) and immune complexes have been seen in some CFS patients. However, no associated tissue damage typical of autoimmune disease has been described in CFS patients. The opportunistic infections or increased risk for cancer observed in persons with immunodeficiency diseases or in immunosuppressed individuals is also not observed in CFS. T-cell activation markers have been reported to be different between groups of CFS patients and healthy persons, but not all investigators have consistently observed these differences. Allergic diseases and secondary illnesses such as sinusitis could be one predisposing factor for CFS, but not all CFS patients have allergies. Many patients do, however, report intolerances for certain substances that may be found in foods or over-the-counter medications, such as alcohol. Hypothalamic-Pituitary Adrenal (HPA) Axis The central nervous system plays an important role in CFS. Physical or emotional stress, which is commonly reported as a pre-onset condition in CFS patients, alters the activity of the hypothalamic-pituitary-adrenal axis, or HPA axis, leading to altered release of corticotrophin-releasing hormone (CRH), cortisol, and other hormones. These hormones can influence the immune system and many other body systems. Some CFS patients produce lower levels of cortisol than do healthy people. Similar hormonal abnormalities have also been observed among CFS patients and in persons with related disorders like fibromyalgia. Cortisol suppresses inflammation and cellular immune activation, and reduced levels might relax constraints on inflammatory processes and immune cell activation. Even though CFS patients had lower levels of cortisol than healthy individuals, their cortisol levels were still within the acceptable range of what is considered normal. Therefore, doctors cannot use cortisol levels as a way to diagnose CFS. Abnormally Low Blood Pressure and Lightheadedness (Neurally Mediated Hypotension) Disturbances in the autonomic regulation of blood pressure and pulse have been found in CFS patients. This problem with maintaining blood pressure can be diagnosed by using tilt table testing, which involves laying the patient horizontally on a table and then tilting the table upright to 70 degrees for 45 minutes while monitoring blood pressure and heart rate. Persons with neurally mediated hypotension (NMH) or postural orthostatic tachycardia (POTS) will develop lower blood pressure under these conditions, as well as other characteristic symptoms, such as lightheadedness, visual dimming, or a slow response to verbal stimuli. Others may develop an unusually rapid heart rate also associated with the symptoms of the syndrome. Many CFS patients experience lightheadedness or worsened fatigue when they stand for prolonged periods or when in warm places, such as in a hot shower -- all circumstances that are known to trigger NMH or POTS. NMH and/or POTS share some of the symptoms of CFS. They should be considered in a CFS patients whose symptoms are worsened with changes in position, after eating, following unusual amounts of or inadequate fluid intake, or increases in activity. Not all patients with CFS will have these conditions, however. Nutritional Deficiency There is no published scientific evidence that CFS is caused by a nutritional deficiency. While evidence is currently lacking for nutritional defects in CFS patients, it should also be added that a balanced diet can be favorable to better health in general and would be expected to benefit a person with any chronic illness.

### Question: How to diagnose Ulcerative Colitis ? ### Answer:

A health care provider diagnoses ulcerative colitis with the following: - medical and family history - physical exam - lab tests - endoscopies of the large intestine The health care provider may perform a series of medical tests to rule out other bowel disorders, such as irritable bowel syndrome, Crohn's disease, or celiac disease, that may cause symptoms similar to those of ulcerative colitis. Read more about these conditions on the Digestive Disease A-Z list. Medical and Family History Taking a medical and family history can help the health care provider diagnose ulcerative colitis and understand a patient's symptoms. The health care provider will also ask the patient about current and past medical conditions and medications. Physical Exam A physical exam may help diagnose ulcerative colitis. During a physical exam, the health care provider most often - checks for abdominal distension, or swelling - listens to sounds within the abdomen using a stethoscope - taps on the abdomen to check for tenderness and pain Lab Tests A health care provider may order lab tests to help diagnose ulcerative colitis, including blood and stool tests. Blood tests. A blood test involves drawing blood at a health care provider's office or a lab. A lab technologist will analyze the blood sample. A health care provider may use blood tests to look for - anemia - inflammation or infection somewhere in the body - markers that show ongoing inflammation - low albumin, or proteincommon in patients with severe ulcerative colitis Stool tests. A stool test is the analysis of a sample of stool. A health care provider will give the patient a container for catching and storing the stool at home. The patient returns the sample to the health care provider or to a lab. A lab technologist will analyze the stool sample. Health care providers commonly order stool tests to rule out other causes of GI diseases, such as infection. Endoscopies of the Large Intestine Endoscopies of the large intestine are the most accurate methods for diagnosing ulcerative colitis and ruling out other possible conditions, such as Crohn's disease, diverticular disease, or cancer. Endoscopies of the large intestine include - colonoscopy - flexible sigmoidoscopy Colonoscopy. Colonoscopy is a test that uses a long, flexible, narrow tube with a light and tiny camera on one end, called a colonoscope or scope, to look inside the rectum and entire colon. In most cases, light anesthesia and pain medication help patients relax for the test. The medical staff will monitor a patient's vital signs and try to make him or her as comfortable as possible. A nurse or technician places an intravenous (IV) needle in a vein in the patient's arm or hand to give anesthesia. For the test, the patient will lie on a table or stretcher while the gastroenterologist inserts a colonoscope into the patient's anus and slowly guides it through the rectum and into the colon. The scope inflates the large intestine with air to give the gastroenterologist a better view. The camera sends a video image of the intestinal lining to a monitor, allowing the gastroenterologist to carefully examine the tissues lining the colon and rectum. The gastroenterologist may move the patient several times and adjust the scope for better viewing. Once the scope has reached the opening to the small intestine, the gastroenterologist slowly withdraws it and examines the lining of the colon and rectum again. A colonoscopy can show irritated and swollen tissue, ulcers, and abnormal growths such as polypsextra pieces of tissue that grow on the inner lining of the intestine. If the gastroenterologist suspects ulcerative colitis, he or she will biopsy the patient's colon and rectum. A biopsy is a procedure that involves taking small pieces of tissue for examination with a microscope. A health care provider will give patients written bowel prep instructions to follow at home before the test. The health care provider will also give patients information about how to care for themselves following the procedure. Flexible sigmoidoscopy. Flexible sigmoidoscopy is a test that uses a flexible, narrow tube with a light and tiny camera on one end, called a sigmoidoscope or scope, to look inside the rectum, the sigmoid colon, and sometimes the descending colon. In most cases, a patient does not need anesthesia. For the test, the patient will lie on a table or stretcher while the health care provider inserts the sigmoidoscope into the patient's anus and slowly guides it through the rectum, the sigmoid colon, and sometimes the descending colon. The scope inflates the large intestine with air to give the health care provider a better view. The camera sends a video image of the intestinal lining to a monitor, allowing the health care provider to examine the tissues lining the sigmoid colon and rectum. The health care provider may ask the patient to move several times and adjust the scope for better viewing. Once the scope reaches the end of the sigmoid colon, the health care provider slowly withdraws it while examining the lining of the colon and rectum again. The health care provider will look for signs of bowel diseases and conditions such as irritated and swollen tissue, ulcers, and polyps. If the health care provider suspects ulcerative colitis, he or she will biopsy the patient's colon and rectum. A health care provider will give patients written bowel prep instructions to follow at home before the test. The health care provider will also give patients information about how to care for themselves following the procedure.

### Question: What are the symptoms of Singleton Merten syndrome ? ### Answer:

What are the signs and symptoms of Singleton Merten syndrome? Singleton Merten syndrome is characterized by abnormalities of the teeth (dental dysplasia); abnormal accumulation of calcium deposits (calcifications) in the aorta and certain valves of the heart (i.e., aortic and mitral valves); and/or progressive thinning and loss of protein of the bones (osteoporosis). Between the ages of four to 24 months, most affected infants experience generalized muscle weakness and loss or wasting away (atrophy) of muscle tissue. In approximately half of the reported cases, these symptoms begin after an episode of illness associated with a fever. Affected infants may also show delays in general physical development, possibly resulting in short stature or delays in the ability to coordinate muscles and perform certain tasks (motor development). Abnormalities affecting the teeth also occur at an early age in individuals with Singleton Merten syndrome. Affected infants may develop cavities and lose their primary teeth prematurely. Certain permanent teeth may not develop or may erupt late; those permanent teeth that do develop are usually malformed. In some cases, permanent teeth may also be lost prematurely. By late infancy or early childhood, affected individuals may experience symptoms associated with the progressive accumulation of calcium deposits (calcifications) in the aorta and on certain valves of the heart. The aorta arises from the lower pumping chamber of the heart (left ventricle) and supplies oxygen-rich blood to all the arteries of the body (excluding the pulmonary artery). In individuals with Singleton Merten Syndrome, calcifications form in the portion of the aorta nearest the heart (proximal thoracic aorta). The accumulation of calcium deposits is progressive and typically causes blockage and narrowing of the aorta (called calcific aortic stenosis), obstructing the flow of oxygenated blood. In some cases, abnormal calcium deposits may also develop around the valve on the left side of the heart (mitral valve calcification). As a result of calcification of these various structures, affected individuals may experience high blood pressure (hypertension); abnormal transmission of electrical impulses (conduction) that coordinate the activity of the heart muscle (heart block); abnormal contractions of the heart (systolic murmurs); and/or abnormal enlargement of the heart (cardiomegaly). By late adolescence, the heart may be unable to pump blood effectively, causing heart failure and leading to life-threatening complications. Infants with Singleton Merten syndrome may also experience abnormal thinning and weakness of the bones (osteoporosis). As a result, bones are frequently brittle and may fracture easily. Osteoporosis may occur in the skull and the long bones of the arms and legs, but is most prominent in the bones of the hands and fingers. Other findings associated with Singleton Merten syndrome may include malformations of the hips and feet that may occur due to muscle weakness; wearing away (erosion) of the bones in the tips of the fingers (terminal phalanges); and/or a chronic skin condition characterized by red, thick, scaly patches of skin (psoriasiform skin eruption). In some cases, affected individuals may have abnormal accumulation of pressure of the fluid of the eye (glaucoma) and/or abnormal sensitivity to light (photosensitivity). The Human Phenotype Ontology provides the following list of signs and symptoms for Singleton Merten syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aortic arch calcification - Aortic valve calcification - Aortic valve stenosis - Autosomal dominant inheritance - Broad forehead - Cardiomegaly - Carious teeth - Congestive heart failure - Coxa valga - Cutaneous photosensitivity - Decreased body weight - Expanded metacarpals with widened medullary cavities - Expanded metatarsals with widened medullary cavities - Expanded phalanges with widened medullary cavities - Genu valgum - Glaucoma - High anterior hairline - Hip dislocation - Hip Subluxation - Hypoplasia of the maxilla - Hypoplasia of the tooth germ - Hypoplastic distal radial epiphyses - Mitral valve calcification - Muscle weakness - Muscular hypotonia - Myopia - Onycholysis - Osteolytic defects of the phalanges of the hand - Osteoporosis - Pes cavus - Recurrent respiratory infections - Shallow acetabular fossae - Short stature - Smooth philtrum - Subaortic stenosis - Talipes equinovarus - Tendon rupture - Unerupted tooth - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

### Question: What are the treatments for Urinary Retention ? ### Answer:

A health care provider treats urinary retention with - bladder drainage - urethral dilation - urethral stents - prostate medications - surgery The type and length of treatment depend on the type and cause of urinary retention. Bladder Drainage Bladder drainage involves catheterization to drain urine. Treatment of acute urinary retention begins with catheterization to relieve the immediate distress of a full bladder and prevent bladder damage. A health care provider performs catheterization during an office visit or in an outpatient center or a hospital. The patient often receives local anesthesia. The health care provider can pass a catheter through the urethra into the bladder. In cases of a blocked urethra, he or she can pass a catheter directly through the lower abdomen, just above the pubic bone, directly into the bladder. In these cases, the health care provider will use anesthesia. For chronic urinary retention, the patient may require intermittentoccasional, or not continuousor long-term catheterization if other treatments do not work. Patients who need to continue intermittent catheterization will receive instruction regarding how to selfcatheterize to drain urine as necessary. Urethral Dilation Urethral dilation treats urethral stricture by inserting increasingly wider tubes into the urethra to widen the stricture. An alternative dilation method involves inflating a small balloon at the end of a catheter inside the urethra. A health care provider performs a urethral dilation during an office visit or in an outpatient center or a hospital. The patient will receive local anesthesia. In some cases, the patient will receive sedation and regional anesthesia. Urethral Stents Another treatment for urethral stricture involves inserting an artificial tube, called a stent, into the urethra to the area of the stricture. Once in place, the stent expands like a spring and pushes back the surrounding tissue, widening the urethra. Stents may be temporary or permanent. A health care provider performs stent placement during an office visit or in an outpatient center or a hospital. The patient will receive local anesthesia. In some cases, the patient will receive sedation and regional anesthesia. Prostate Medications Medications that stop the growth of or shrink the prostate or relieve urinary retention symptoms associated with benign prostatic hyperplasia include - dutasteride (Avodart) - finasteride (Proscar) The following medications relax the muscles of the bladder outlet and prostate to help relieve blockage: - alfuzosin (Uroxatral) - doxazosin (Cardura) - silodosin (Rapaflo) - tadalafil (Cialis) - tamsulosin (Flomax) - terazosin (Hytrin) Surgery Prostate surgery. To treat urinary retention caused by benign prostatic hyperplasia, a urologista doctor who specializes in the urinary tractmay surgically destroy or remove enlarged prostate tissue by using the transurethral method. For transurethral surgery, the urologist inserts a catheter or surgical instruments through the urethra to reach the prostate. Removal of the enlarged tissue usually relieves the blockage and urinary retention caused by benign prostatic hyperplasia. A urologist performs some procedures on an outpatient basis. Some men may require a hospital stay. In some cases, the urologist will remove the entire prostate using open surgery. Men will receive general anesthesia and have a longer hospital stay than for other surgical procedures. Men will also have a longer rehabilitation period for open surgery. More information is provided in the NIDDK health topic, Prostate Enlargement: Benign Prostatic Hyperplasia. Internal urethrotomy. A urologist can repair a urethral stricture by performing an internal urethrotomy. For this procedure, the urologist inserts a special catheter into the urethra until it reaches the stricture. The urologist then uses a knife or laser to make an incision that opens the stricture. The urologist performs an internal urethrotomy in an outpatient center or a hospital. The patient will receive general anesthesia. Cystocele or rectocele repair. Women may need surgery to lift a fallen bladder or rectum into its normal position. The most common procedure for cystocele and rectocele repair involves a urologist, who also specializes in the female reproductive system, making an incision in the wall of the vagina. Through the incision, the urologist looks for a defect or hole in the tissue that normally separates the vagina from the other pelvic organs. The urologist places stitches in the tissue to close up the defect and then closes the incision in the vaginal wall with more stitches, removing any extra tissue. These stitches tighten the layers of tissue that separate the organs, creating more support for the pelvic organs. A urologist or gynecologista doctor who specializes in the female reproductive systemperforms the surgery to repair a cystocele or rectocele in a hospital. Women will receive anesthesia. Tumor and cancer surgery. Removal of tumors and cancerous tissues in the bladder or urethra may reduce urethral obstruction and urinary retention.

### Question: What causes Acromegaly ? ### Answer:

Acromegaly is caused by prolonged overproduction of GH by the pituitary gland. The pituitary produces several important hormones that control body functions such as growth and development, reproduction, and metabolism. But hormones never seem to act simply and directly. They usually "cascade" or flow in a series, affecting each other's production or release into the bloodstream. GH is part of a cascade of hormones that, as the name implies, regulates the physical growth of the body. This cascade begins in a part of the brain called the hypothalamus. The hypothalamus makes hormones that regulate the pituitary. One of the hormones in the GH series, or "axis," is growth hormone-releasing hormone (GHRH), which stimulates the pituitary gland to produce GH. Secretion of GH by the pituitary into the bloodstream stimulates the liver to produce another hormone called insulin-like growth factor I (IGF-I). IGF-I is what actually causes tissue growth in the body. High levels of IGF-I, in turn, signal the pituitary to reduce GH production. The hypothalamus makes another hormone called somatostatin, which inhibits GH production and release. Normally, GHRH, somatostatin, GH, and IGF-I levels in the body are tightly regulated by each other and by sleep, exercise, stress, food intake, and blood sugar levels. If the pituitary continues to make GH independent of the normal regulatory mechanisms, the level of IGF-I continues to rise, leading to bone overgrowth and organ enlargement. High levels of IGF-I also cause changes in glucose (sugar) and lipid (fat) metabolism and can lead to diabetes, high blood pressure, and heart disease. Pituitary Tumors In more than 95 percent of people with acromegaly, a benign tumor of the pituitary gland, called an adenoma, produces excess GH. Pituitary tumors are labeled either micro- or macro-adenomas, depending on their size. Most GH-secreting tumors are macro-adenomas, meaning they are larger than 1 centimeter. Depending on their location, these larger tumors may compress surrounding brain structures. For example, a tumor growing upward may affect the optic chiasm-where the optic nerves crossleading to visual problems and vision loss. If the tumor grows to the side, it may enter an area of the brain called the cavernous sinus where there are many nerves, potentially damaging them. Compression of the surrounding normal pituitary tissue can alter production of other hormones. These hormonal shifts can lead to changes in menstruation and breast discharge in women and erectile dysfunction in men. If the tumor affects the part of the pituitary that controls the thyroidanother hormone-producing glandthen thyroid hormones may decrease. Too little thyroid hormone can cause weight gain, fatigue, and hair and skin changes. If the tumor affects the part of the pituitary that controls the adrenal gland, the hormone cortisol may decrease. Too little cortisol can cause weight loss, dizziness, fatigue, low blood pressure, and nausea. Some GH-secreting tumors may also secrete too much of other pituitary hormones. For example, they may produce prolactin, the hormone that stimulates the mammary glands to produce milk. Rarely, adenomas may produce thyroid-stimulating hormone. Doctors should assess all pituitary hormones in people with acromegaly. Rates of GH production and the aggressiveness of the tumor vary greatly among people with adenomas. Some adenomas grow slowly and symptoms of GH excess are often not noticed for many years. Other adenomas grow more rapidly and invade surrounding brain areas or the venous sinuses, which are located near the pituitary gland. Younger patients tend to have more aggressive tumors. Regardless of size, these tumors are always benign. Most pituitary tumors develop spontaneously and are not genetically inherited. They are the result of a genetic alteration in a single pituitary cell, which leads to increased cell division and tumor formation. This genetic change, or mutation, is not present at birth, but happens later in life. The mutation occurs in a gene that regulates the transmission of chemical signals within pituitary cells. It permanently switches on the signal that tells the cell to divide and secrete GH. The events within the cell that cause disordered pituitary cell growth and GH oversecretion currently are the subject of intensive research. Nonpituitary Tumors Rarely, acromegaly is caused not by pituitary tumors but by tumors of the pancreas, lungs, and other parts of the brain. These tumors also lead to excess GH, either because they produce GH themselves or, more frequently, because they produce GHRH, the hormone that stimulates the pituitary to make GH. When these non-pituitary tumors are surgically removed, GH levels fall and the symptoms of acromegaly improve. In patients with GHRH-producing, non-pituitary tumors, the pituitary still may be enlarged and may be mistaken for a tumor. Physicians should carefully analyze all "pituitary tumors" removed from patients with acromegaly so they do not overlook the rare possibility that a tumor elsewhere in the body is causing the disorder.

### Question: How to diagnose Atherosclerosis ? ### Answer:

Your doctor will diagnose atherosclerosis based on your medical and family histories, a physical exam, and test results. Specialists Involved If you have atherosclerosis, a primary care doctor, such as an internist or family practitioner, may handle your care. Your doctor may recommend other health care specialists if you need expert care, such as: A cardiologist. This is a doctor who specializes in diagnosing and treating heart diseases and conditions. You may go to a cardiologist if you haveperipheral artery disease(P.A.D.)or coronary microvascular disease (MVD). A vascular specialist. This is a doctor who specializes in diagnosing and treating blood vessel problems. You may go to a vascular specialist if you have P.A.D. A neurologist. This is a doctor who specializes in diagnosing and treating nervous system disorders. You may see a neurologist if you've had a stroke due to carotid artery disease. A nephrologist. This is a doctor who specializes in diagnosing and treating kidney diseases and conditions. You may go to a nephrologist if you have chronic kidney disease. Physical Exam During the physical exam, your doctor may listen to your arteries for an abnormal whooshing sound called a bruit (broo-E). Your doctor can hear a bruit when placing a stethoscope over an affected artery. A bruit may indicate poor blood flow due to plaque buildup. Your doctor also may check to see whether any of your pulses (for example, in the leg or foot) are weak or absent. A weak or absent pulse can be a sign of a blocked artery. Diagnostic Tests Your doctor may recommend one or more tests to diagnose atherosclerosis. These tests also can help your doctor learn the extent of your disease and plan the best treatment. Blood Tests Blood tests check the levels of certain fats, cholesterol, sugar, and proteins in your blood. Abnormal levels may be a sign that you're at risk for atherosclerosis. EKG (Electrocardiogram) An EKG is a simple, painless test that detects and records the heart's electrical activity. The test shows how fast the heart is beating and its rhythm (steady or irregular). An EKG also records the strength and timing of electrical signals as they pass through the heart. An EKG can show signs of heart damage caused by CHD. The test also can show signs of a previous or current heart attack. Chest X Ray A chest x ray takes pictures of the organs and structures inside your chest, such as your heart, lungs, and blood vessels. A chest x ray can reveal signs of heart failure. Ankle/Brachial Index This test compares the blood pressure in your ankle with the blood pressure in your arm to see how well your blood is flowing. This test can help diagnose P.A.D. Echocardiography Echocardiography (echo) uses sound waves to create a moving picture of your heart. The test provides information about the size and shape of your heart and how well your heart chambers and valves are working. Echo also can identify areas of poor blood flow to the heart, areas of heart muscle that aren't contracting normally, and previous injury to the heart muscle caused by poor blood flow. Computed Tomography Scan A computed tomography (CT) scan creates computer-generated pictures of the heart, brain, or other areas of the body. The test can show hardening and narrowing of large arteries. A cardiac CT scan also can show whether calcium has built up in the walls of the coronary (heart) arteries. This may be an early sign of CHD. Stress Testing During stress testing, you exercise to make your heart work hard and beat fast while heart tests are done. If you can't exercise, you may be given medicine to make your heart work hard and beat fast. When your heart is working hard, it needs more blood and oxygen. Plaque-narrowed arteries can't supply enough oxygen-rich blood to meet your heart's needs. A stress test can show possible signs and symptoms of CHD, such as: Abnormal changes in your heart rate or blood pressure Shortness of breath or chest pain Abnormal changes in your heart rhythm or your heart's electrical activity As part of some stress tests, pictures are taken of your heart while you exercise and while you rest. These imaging stress tests can show how well blood is flowing in various parts of your heart. They also can show how well your heart pumps blood when it beats. Angiography Angiography (an-jee-OG-ra-fee) is a test that uses dye and special x rays to show the inside of your arteries. This test can show whether plaque is blocking your arteries and how severe the blockage is. A thin, flexible tube called a catheter is put into a blood vessel in your arm, groin (upper thigh), or neck. Dye that can be seen on an x-ray picture is injected through the catheter into the arteries. By looking at the x-ray picture, your doctor can see the flow of blood through your arteries. Other Tests Other tests are being studied to see whether they can give a better view of plaque buildup in the arteries. Examples of these tests include magnetic resonance imaging (MRI) and positron emission tomography (PET).

### Question: How to diagnose Iron-Deficiency Anemia ? ### Answer:

Your doctor will diagnose iron-deficiency anemia based on your medical history, a physical exam, and the results from tests and procedures. Once your doctor knows the cause and severity of the condition, he or she can create a treatment plan for you. Mild to moderate iron-deficiency anemia may have no signs or symptoms. Thus, you may not know you have it unless your doctor discovers it from a screening test or while checking for other problems. Specialists Involved Primary care doctors often diagnose and treat iron-deficiency anemia. These doctors include pediatricians, family doctors, gynecologists/obstetricians, and internal medicine specialists. A hematologist (a blood disease specialist), a gastroenterologist (a digestive system specialist), and other specialists also may help treat iron-deficiency anemia. Medical History Your doctor will ask about your signs and symptoms and any past problems you've had with anemia or low iron. He or she also may ask about your diet and whether you're taking any medicines. If you're a woman, your doctor may ask whether you might be pregnant. Physical Exam Your doctor will do a physical exam to look for signs of iron-deficiency anemia. He or she may: Look at your skin, gums, and nail beds to see whether they're pale Listen to your heart for rapid or irregular heartbeats Listen to your lungs for rapid or uneven breathing Feel your abdomen to check the size of your liver and spleen Do a pelvic and rectal exam to check for internal bleeding Diagnostic Tests and Procedures Many tests and procedures are used to diagnose iron-deficiency anemia. They can help confirm a diagnosis, look for a cause, and find out how severe the condition is. Complete Blood Count Often, the first test used to diagnose anemia is a complete blood count (CBC). The CBC measures many parts of your blood. This test checks your hemoglobin and hematocrit (hee-MAT-oh-crit) levels. Hemoglobin is an iron-rich protein in red blood cells that carries oxygen to the body. Hematocrit is a measure of how much space red blood cells take up in your blood. A low level of hemoglobin or hematocrit is a sign of anemia. The normal range of these levels varies in certain racial and ethnic populations. Your doctor can explain your test results to you. The CBC also checks the number of red blood cells, white blood cells, and platelets in your blood. Abnormal results may be a sign of infection, a blood disorder, or another condition. Finally, the CBC looks at mean corpuscular (kor-PUS-kyu-lar) volume (MCV). MCV is a measure of the average size of your red blood cells. The results may be a clue as to the cause of your anemia. In iron-deficiency anemia, for example, red blood cells usually are smaller than normal. Other Blood Tests If the CBC results confirm you have anemia, you may need other blood tests to find out what's causing the condition, how severe it is, and the best way to treat it. Reticulocyte count. This test measures the number of reticulocytes (re-TIK-u-lo-sites) in your blood. Reticulocytes are young, immature red blood cells. Over time, reticulocytes become mature red blood cells that carry oxygen throughout your body. A reticulocyte count shows whether your bone marrow is making red blood cells at the correct rate. Peripheral smear. For this test, a sample of your blood is examined under a microscope. If you have iron-deficiency anemia, your red blood cells will look smaller and paler than normal. Tests to measure iron levels. These tests can show how much iron has been used from your body's stored iron. Tests to measure iron levels include: Serum iron. This test measures the amount of iron in your blood. The level of iron in your blood may be normal even if the total amount of iron in your body is low. For this reason, other iron tests also are done. Serum ferritin. Ferritin is a protein that helps store iron in your body. A measure of this protein helps your doctor find out how much of your body's stored iron has been used. Transferrin level, or total iron-binding capacity. Transferrin is a protein that carries iron in your blood. Total iron-binding capacity measures how much of the transferrin in your blood isn't carrying iron. If you have iron-deficiency anemia, you'll have a high level of transferrin that has no iron. Other tests. Your doctor also may recommend tests to check your hormone levels, especially your thyroid hormone. You also may have a blood test for a chemical called erythrocyte protoporphyrin. This chemical is a building block for hemoglobin. Children also may be tested for the level of lead in their blood. Lead can make it hard for the body to produce hemoglobin. Tests and Procedures for Gastrointestinal Blood Loss To check whether internal bleeding is causing your iron-deficiency anemia, your doctor may suggest a fecal occult blood test. This test looks for blood in the stools and can detect bleeding in the intestines. If the test finds blood, you may have other tests and procedures to find the exact spot of the bleeding. These tests and procedures may look for bleeding in the stomach, upper intestines, colon, or pelvic organs.

### Question: How to diagnose Bile Duct Cancer (Cholangiocarcinoma) ? ### Answer:

Tests that examine the bile ducts and nearby organs are used to detect (find), diagnose, and stage bile duct cancer. Procedures that make pictures of the bile ducts and the nearby area help diagnose bile duct cancer and show how far the cancer has spread. The process used to find out if cancer cells have spread within and around the bile ducts or to distant parts of the body is called staging. In order to plan treatment, it is important to know if the bile duct cancer can be removed by surgery. Tests and procedures to detect, diagnose, and stage bile duct cancer are usually done at the same time. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Liver function tests : A procedure in which a blood sample is checked to measure the amounts of bilirubin and alkaline phosphatase released into the blood by the liver. A higher than normal amount of these substances can be a sign of liver disease that may be caused by bile duct cancer. - Laboratory tests : Medical procedures that test samples of tissue, blood, urine, or other substances in the body. These tests help to diagnose disease, plan and check treatment, or monitor the disease over time. - Carcinoembryonic antigen (CEA) and CA 19-9 tumor marker test : A procedure in which a sample of blood, urine, or tissue is checked to measure the amounts of certain substances made by organs, tissues, or tumor cells in the body. Certain substances are linked to specific types of cancer when found in increased levels in the body. These are called tumor markers. Higher than normal levels of carcinoembryonic antigen (CEA) and CA 19-9 may mean there is bile duct cancer. - Ultrasound exam : A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs, such as the abdomen, and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the abdomen, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - MRCP (magnetic resonance cholangiopancreatography): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body such as the liver, bile ducts, gallbladder, pancreas, and pancreatic duct. Different procedures may be used to obtain a sample of tissue and diagnose bile duct cancer. Cells and tissues are removed during a biopsy so they can be viewed under a microscope by a pathologist to check for signs of cancer. Different procedures may be used to obtain the sample of cells and tissue. The type of procedure used depends on whether the patient is well enough to have surgery. Types of biopsy procedures include the following: - Laparoscopy : A surgical procedure to look at the organs inside the abdomen, such as the bile ducts and liver, to check for signs of cancer. Small incisions (cuts) are made in the wall of the abdomen and a laparoscope (a thin, lighted tube) is inserted into one of the incisions. Other instruments may be inserted through the same or other incisions to perform procedures such as taking tissue samples to be checked for signs of cancer. - Percutaneous transhepatic cholangiography (PTC): A procedure used to x-ray the liver and bile ducts. A thin needle is inserted through the skin below the ribs and into the liver. Dye is injected into the liver or bile ducts and an x-ray is taken. A sample of tissue is removed and checked for signs of cancer. If the bile duct is blocked, a thin, flexible tube called a stent may be left in the liver to drain bile into the small intestine or a collection bag outside the body. This procedure may be used when a patient cannot have surgery. - Endoscopic retrograde cholangiopancreatography (ERCP): A procedure used to x-ray the ducts (tubes) that carry bile from the liver to the gallbladder and from the gallbladder to the small intestine. Sometimes bile duct cancer causes these ducts to narrow and block or slow the flow of bile, causing jaundice. An endoscope is passed through the mouth and stomach and into the small intestine. Dye is injected through the endoscope (thin, tube-like instrument with a light and a lens for viewing) into the bile ducts and an x-ray is taken. A sample of tissue is removed and checked for signs of cancer. If the bile duct is blocked, a thin tube may be inserted into the duct to unblock it. This tube (or stent) may be left in place to keep the duct open. This procedure may be used when a patient cannot have surgery.

### Question: What is (are) High Blood Pressure ? ### Answer:

High blood pressure is a common disease in which blood flows through blood vessels (arteries) at higher than normal pressures. What Is Blood Pressure? Blood pressure is the force of blood pushing against the walls of the blood vessels as the heart pumps blood. If your blood pressure rises and stays high over time, its called high blood pressure. High blood pressure is dangerous because it makes the heart work too hard, and the high force of the blood flow can harm arteries and organs such as the heart, kidneys, brain, and eyes. Types of High Blood Pressure There are two main types of high blood pressure: primary and secondary high blood pressure. - Primary, or essential, high blood pressure is the most common type of high blood pressure. This type of high blood pressure tends to develop over years as a person ages. - Secondary high blood pressure is caused by another medical condition or use of certain medicines. This type usually resolves after the cause is treated or removed. Primary, or essential, high blood pressure is the most common type of high blood pressure. This type of high blood pressure tends to develop over years as a person ages. Secondary high blood pressure is caused by another medical condition or use of certain medicines. This type usually resolves after the cause is treated or removed. Measuring Blood Pressure Blood pressure is always given as two numbers, the systolic and diastolic pressures. Both are important. - Systolic Pressure is the pressure of blood against the artery walls when the heart beats. - Diastolic Pressure is the pressure of blood against the artery walls when the heart is at rest between beats. Systolic Pressure is the pressure of blood against the artery walls when the heart beats. Diastolic Pressure is the pressure of blood against the artery walls when the heart is at rest between beats. Usually these numbers are written one above or before the other -- for example, 120/80 mmHg. The top, or first, number is the systolic and the bottom, or second number, is the diastolic. If your blood pressure is 120/80, you say that it is "120 over 80." Normal Blood Pressure Normal blood pressure for adults is defined as a systolic pressure below 120 mmHg and a diastolic pressure below 80 mmHg. It is normal for blood pressures to change when you sleep, wake up, or are excited or nervous. When you are active, it is normal for your blood pressure to increase. However, once the activity stops, your blood pressure returns to your normal baseline range. Blood pressure normally rises with age and body size. Newborn babies often have very low blood pressure numbers that are considered normal for babies, while older teens have numbers similar to adults. Abnormal Blood Pressure Abnormal blood pressure is higher than 120/80 mmHg. If either your systolic or diastolic blood pressure is higher than normal (120/80) but not high enough to be considered high blood pressure (140/90), you have pre-hypertension. Pre-hypertension is a top number between 120 and 139 or a bottom number between 80 and 89 mmHg. For example, blood pressure readings of 138/82, 128/70, or 115/86 are all in the "pre-hypertension" range. (Click the table on the right to see the stages of high blood pressure in adults.) A systolic blood pressure of 140 mmHg or higher, or a diastolic blood pressure of 90 mmHg or higher, is considered high blood pressure, or hypertension. Hypertension is the medical term for high blood pressure. If you have diabetes or chronic kidney disease, your recommended blood pressure levels are a systolic blood pressure of 130 mmHg or lower, and a diastolic blood pressure of 80 mmHg or lower. Usually Has No Symptoms High blood pressure is often called "the silent killer" because it usually has no symptoms. Occasionally, headaches may occur. Some people may not find out they have high blood pressure until they have trouble with their heart, kidneys, or eyes. When high blood pressure is not diagnosed and treated, it can lead to other life-threatening conditions, including heart attack, heart failure, stroke, and kidney failure. It can also lead to vision changes or blindness. Possible Complications Over Time Over time, high blood pressure can cause - your heart to work too hard and become larger or weaker, which can lead to heart failure. - small bulges (aneurysms) to worsen in your blood vessels. Common locations for aneurysms are the aorta, which is the main artery from the heart; the arteries in your brain, legs, and intestines; and the artery leading to your spleen. - blood vessels in your kidneys to narrow, which can cause kidney failure. - blood vessels in your eyes to burst or bleed, which can cause vision changes and can result in blindness. - arteries throughout your body to "harden" faster, especially those in your heart, brain, kidneys, and legs. This can cause a heart attack, stroke, or kidney failure. your heart to work too hard and become larger or weaker, which can lead to heart failure. small bulges (aneurysms) to worsen in your blood vessels. Common locations for aneurysms are the aorta, which is the main artery from the heart; the arteries in your brain, legs, and intestines; and the artery leading to your spleen. blood vessels in your kidneys to narrow, which can cause kidney failure. blood vessels in your eyes to burst or bleed, which can cause vision changes and can result in blindness. arteries throughout your body to "harden" faster, especially those in your heart, brain, kidneys, and legs. This can cause a heart attack, stroke, or kidney failure.

### Question: What are the treatments for Fanconi Anemia ? ### Answer:

Doctors decide how to treat Fanconi anemia (FA) based on a person's age and how well the person's bone marrow is making new blood cells. Goals of Treatment Long-term treatments for FA can: Cure the anemia. Damaged bone marrow cells are replaced with healthy ones that can make enough of all three types of blood cells on their own. Or Treat the symptoms without curing the cause. This is done using medicines and other substances that can help your body make more blood cells for a limited time. Screening and Short-Term Treatment Even if you or your child has FA, your bone marrow might still be able to make enough new blood cells. If so, your doctor might suggest frequent blood count checks so he or she can watch your condition. Your doctor will probably want you to have bone marrow tests once a year. He or she also will screen you for any signs of cancer or tumors. If your blood counts begin to drop sharply and stay low, your bone marrow might be failing. Your doctor may prescribe antibiotics to help your body fight infections. In the short term, he or she also may want to give you blood transfusions to increase your blood cell counts to normal levels. However, long-term use of blood transfusions can reduce the chance that other treatments will work. Long-Term Treatment The four main types of long-term treatment for FA are: Blood and marrow stem cell transplant Androgen therapy Synthetic growth factors Gene therapy Blood and Marrow Stem Cell Transplant A blood and marrow stem cell transplant is the current standard treatment for patients who have FA that's causing major bone marrow failure. Healthy stem cells from another person, called a donor, are used to replace the faulty cells in your bone marrow. If you're going to receive stem cells from another person, your doctor will want to find a donor whose stem cells match yours as closely as possible. Stem cell transplants are most successful in younger people who: Have few or no serious health problems Receive stem cells from a brother or sister who is a good donor match Have had few or no previous blood transfusions During the transplant, you'll get donated stem cells in a procedure that's like a blood transfusion. Once the new stem cells are in your body, they travel to your bone marrow and begin making new blood cells. A successful stem cell transplant will allow your body to make enough of all three types of blood cells. Even if you've had a stem cell transplant to treat FA, youre still at risk for some types of blood cancer and cancerous solid tumors. Your doctor will check your health regularly after the procedure. For more information about stem cell transplantsincluding finding a donor, having the procedure, and learning about the risksgo to the Health Topics Blood and Marrow Stem Cell Transplant article. Androgen Therapy Before improvements made stem cell transplants more effective, androgen therapy was the standard treatment for people who had FA. Androgens are man-made male hormones that can help your body make more blood cells for long periods. Androgens increase your red blood cell and platelet counts. They don't work as well at raising your white blood cell count. Unlike a stem cell transplant, androgens don't allow your bone marrow to make enough of all three types of blood cells on its own. You may need ongoing treatment with androgens to control the effects of FA. Also, over time, androgens lose their ability to help your body make more blood cells, which means you'll need other treatments. Androgen therapy can have serious side effects, such as liver disease. This treatment also can't prevent you from developing leukemia (a type of blood cancer). Synthetic Growth Factors Your doctor may choose to treat your FA with growth factors. These are substances found in your body, but they also can be man-made. Growth factors help your body make more red and white blood cells. Growth factors that help your body make more platelets still are being studied. More research is needed on growth factor treatment for FA. Early results suggest that growth factors may have fewer and less serious side effects than androgens. Gene Therapy Researchers are looking for ways to replace faulty FA genes with normal, healthy genes. They hope these genes will make proteins that can repair and protect your bone marrow cells. Early results of this therapy hold promise, but more research is needed. Surgery FA can cause birth defects that affect the arms, thumbs, hips, legs, and other parts of the body. Doctors may recommend surgery to repair some defects. For example, your child might be born with a ventricular septal defecta hole or defect in the wall that separates the lower chambers of the heart. His or her doctor may recommend surgery to close the hole so the heart can work properly. Children who have FA also may need surgery to correct digestive system problems that can harm their nutrition, growth, and survival. One of the most common problems is an FA-related birth defect in which the trachea (windpipe), which carries air to the lungs, is connected to the esophagus, which carries food to the stomach. This can cause serious breathing, swallowing, and eating problems and can lead to lung infections. Surgery is needed to separate the two organs and allow normal eating and breathing.

### Question: What are the treatments for Marfan Syndrome ? ### Answer:

Marfan syndrome has no cure. However, treatments can help delay or prevent complications, especially when started early. Marfan syndrome can affect many parts of your body, including your heart, bones and joints, eyes, nervous system, and lungs. The type of treatment you receive will depend on your signs and symptoms. Heart Treatments Aortic dilation, or aortic aneurysm, is the most common and serious heart problem linked to Marfan syndrome. In this condition, the aortathe main artery that carries oxygen-rich blood to your bodystretches and grows weak. Medicines are used to try to slow the rate of aortic dilation. Surgery is used to replace the dilated segment of aorta before it tears. If you have Marfan syndrome, you'll need routine care and tests to check your heart valves and aorta. Medicines Beta blockers are medicines that help your heart beat slower and with less force. These medicines may help relieve strain on your aorta and slow the rate of aortic dilation. Some people have side effects from beta blockers, such as tiredness and nausea (feeling sick to your stomach). If side effects occur, your doctor may prescribe a calcium channel blocker or ACE inhibitor instead of a beta blocker. Both medicines help relieve stress on the aorta. Studies suggest that blocking a protein called TGF-beta may help prevent some of the effects of Marfan syndrome. Research shows that the medicine losartan may block the protein in other conditions. The National Heart, Lung, and Blood Institute currently is sponsoring a study comparing losartan to a beta blocker in children and adults who have Marfan syndrome. The study's goal is to find out which medicine, if either, is best at slowing the rate of aortic dilation. Surgery If your aorta stretches, it's more likely to tear (a condition called aortic dissection). To prevent this, your doctor may recommend surgery to repair or replace part of your aorta. Surgery may involve: A composite valve graft. For this surgery, part of the aorta and the aortic valve are removed. The aorta is replaced with a man-made tube called a graft. A man-made valve replaces the original valve. Aortic valve-sparing surgery. If your aortic valve is working well, your doctor may recommend valve-sparing surgery. For this surgery, your doctor replaces the enlarged part of your aorta with a graft. Your aortic valve is left in place. After aortic surgery, you may need medicines or followup tests. For example, after a composite valve graft, your doctor will prescribe medicines called anticoagulants, or "blood thinners." Blood thinners help prevent blood clots from forming on your man-made aortic valve. You'll need to take these medicines for the rest of your life. If you've had valve-sparing surgery, you'll only need to take blood thinners for a short time, as your doctor prescribes. If you've had a composite valve graft, you're at increased risk for endocarditis (EN-do-kar-DI-tis). This is an infection of the inner lining of your heart chambers and valves. Your doctor may recommend that you take antibiotics before certain medical or dental procedures that increase your risk of endocarditis. Your doctor also may advise you to continue taking beta blockers or other medicines after either type of aortic surgery. After surgery, you may have routine cardiac magnetic resonance imaging (MRI) or cardiac computed tomography (CT) scans to check your aorta. Cardiac MRI is a painless test that uses radio waves and magnets to created detailed pictures of your organs and tissues. Cardiac CT is a painless test that uses an x-ray machine to take clear, detailed pictures of your heart. Bone and Joint Treatments If you have scoliosis (a curved spine), your doctor may suggest a brace or other device to prevent the condition from getting worse. Severe cases of scoliosis may require surgery. Some people who have Marfan syndrome need surgery to repair a chest that sinks in or sticks out. This surgery is done to prevent the chest from pressing on the lungs and heart. Eye Treatments Marfan syndrome can lead to many eye problems, such as a dislocated lens, nearsightedness, early glaucoma (high pressure in the fluid in the eyes), and cataracts (clouding of an eye's lens). Glasses or contact lenses can help with some of these problems. Sometimes surgery is needed. Nervous System Treatments Marfan syndrome can lead to dural ectasia. In this condition, a substance called the dura (which covers the fluid around your brain and spinal cord) stretches and grows weak. This can cause the bones of the spine to wear away. Dural ectasia usually is treated with pain medicines. Lung Treatments Marfan syndrome may cause pneumothorax, or collapsed lung. In this condition, air or gas builds up in the space between the lungs and the chest wall. If the condition is minor, it may go away on its own. However, you may need to have a tube placed through your skin and chest wall to remove the air. Sometimes surgery is needed.

### Question: What are the symptoms of Fanconi anemia ? ### Answer:

What are the signs and symptoms of Fanconi anemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Fanconi anemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome stability 90% Anemia 90% Aplasia/Hypoplasia of the radius 90% Bone marrow hypocellularity 90% Hypopigmented skin patches 90% Irregular hyperpigmentation 90% Leukopenia 90% Short stature 90% Thrombocytopenia 90% Blepharophimosis 50% Cognitive impairment 50% Microcephaly 50% Scoliosis 50% Abnormal localization of kidney 7.5% Abnormality of female internal genitalia 7.5% Abnormality of the aorta 7.5% Abnormality of the aortic valve 7.5% Abnormality of the carotid arteries 7.5% Abnormality of the femur 7.5% Abnormality of the hip bone 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Abnormality of the liver 7.5% Abnormality of the preputium 7.5% Abnormality of the ulna 7.5% Aganglionic megacolon 7.5% Aplasia/Hypoplasia of the iris 7.5% Aplasia/Hypoplasia of the uvula 7.5% Arteriovenous malformation 7.5% Astigmatism 7.5% Atria septal defect 7.5% Cafe-au-lait spot 7.5% Cataract 7.5% Choanal atresia 7.5% Cleft palate 7.5% Clinodactyly of the 5th finger 7.5% Clubbing of toes 7.5% Cranial nerve paralysis 7.5% Cryptorchidism 7.5% Displacement of the external urethral meatus 7.5% Dolichocephaly 7.5% Duodenal stenosis 7.5% Epicanthus 7.5% External ear malformation 7.5% Facial asymmetry 7.5% Finger syndactyly 7.5% Frontal bossing 7.5% Functional abnormality of male internal genitalia 7.5% Hearing impairment 7.5% Hydrocephalus 7.5% Hyperreflexia 7.5% Hypertelorism 7.5% Hypertrophic cardiomyopathy 7.5% Intrauterine growth retardation 7.5% Meckel diverticulum 7.5% Myelodysplasia 7.5% Nystagmus 7.5% Oligohydramnios 7.5% Patent ductus arteriosus 7.5% Pes planus 7.5% Proptosis 7.5% Ptosis 7.5% Recurrent urinary tract infections 7.5% Reduced bone mineral density 7.5% Renal hypoplasia/aplasia 7.5% Renal insufficiency 7.5% Sloping forehead 7.5% Spina bifida 7.5% Strabismus 7.5% Tetralogy of Fallot 7.5% Toe syndactyly 7.5% Tracheoesophageal fistula 7.5% Triphalangeal thumb 7.5% Umbilical hernia 7.5% Upslanted palpebral fissure 7.5% Urogenital fistula 7.5% Ventriculomegaly 7.5% Visual impairment 7.5% Weight loss 7.5% Abnormality of cardiovascular system morphology - Abnormality of skin pigmentation - Absent radius - Absent thumb - Anemic pallor - Bruising susceptibility - Chromosomal breakage induced by crosslinking agents - Complete duplication of thumb phalanx - Deficient excision of UV-induced pyrimidine dimers in DNA - Duplicated collecting system - Ectopic kidney - Horseshoe kidney - Hypergonadotropic hypogonadism - Intellectual disability - Leukemia - Microphthalmia - Neutropenia - Pancytopenia - Prolonged G2 phase of cell cycle - Renal agenesis - Reticulocytopenia - Short thumb - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

### Question: What are the symptoms of Marfan syndrome ? ### Answer:

What are the signs and symptoms of Marfan syndrome? The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression. Affected individuals often are tall and lean, have elongated fingers and toes (arachnodactyly), and have an arm span that exceeds body height. Other common features include unusually flexible joints, a long and narrow face, a highly arched roof of the mouth and crowded teeth, an abnormal curvature of the spine (scoliosis), and either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum). About half of people with Marfan syndrome have a dislocated lens (ectopia lentis) in one or both eyes, and most have some degree of nearsightedness (myopia). Clouding of the lens (cataract) may occur in mid adulthood, and increased pressure within the eye (glaucoma) occurs more frequently than in people without Marfan syndrome. Most people with Marfan syndrome have abnormalities of the heart and the aorta. Leaks in valves that control blood flow through the heart can cause shortness of breath, fatigue, and an irregular heartbeat felt as skipped or extra beats (palpitations). If leakage occurs, it usually affects the mitral valve, which is a valve between two chambers of the heart, or the aortic valve that regulates blood flow from the heart into the aorta. The first few inches of the aorta can weaken and stretch, which may lead to a bulge in the blood vessel wall (an aneurysm). The increased size of the aorta may cause the aortic valve to leak, which can lead to a sudden tearing of the layers in the aorta wall (aortic dissection). Aortic aneurysm and dissection can be life threatening. The Human Phenotype Ontology provides the following list of signs and symptoms for Marfan syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arachnodactyly 90% Dilatation of the ascending aorta 90% Disproportionate tall stature 90% Muscular hypotonia 90% Pes planus 90% Skeletal muscle atrophy 90% Striae distensae 90% Aneurysm 50% Arthralgia 50% Decreased body weight 50% Dental malocclusion 50% Dural ectasia 50% Hypoplasia of the zygomatic bone 50% Joint hypermobility 50% Myopia 50% Narrow face 50% Pectus excavatum 50% Protrusio acetabuli 50% Scoliosis 50% Sleep disturbance 50% Visual impairment 50% Abnormality of the aortic valve 7.5% Abnormality of the endocardium 7.5% Aortic dissection 7.5% Arterial dissection 7.5% Attention deficit hyperactivity disorder 7.5% Chest pain 7.5% Cleft palate 7.5% Congestive heart failure 7.5% Dolichocephaly 7.5% Ectopia lentis 7.5% Flat cornea 7.5% Glaucoma 7.5% Hernia of the abdominal wall 7.5% Kyphosis 7.5% Limitation of joint mobility 7.5% Meningocele 7.5% Myalgia 7.5% Reduced bone mineral density 7.5% Retinal detachment 7.5% Emphysema 5% Esotropia 5% Exotropia 5% Aortic regurgitation - Aortic root dilatation - Ascending aortic aneurysm - Autosomal dominant inheritance - Cataract - Decreased muscle mass - Decreased subcutaneous fat - Deeply set eye - Dental crowding - Flexion contracture - Genu recurvatum - Hammertoe - High palate - Hypoplasia of the iris - Incisional hernia - Increased axial globe length - Kyphoscoliosis - Long face - Malar flattening - Medial rotation of the medial malleolus - Mitral regurgitation - Mitral valve prolapse - Narrow palate - Overgrowth - Pectus carinatum - Pes cavus - Pneumothorax - Premature calcification of mitral annulus - Premature osteoarthritis - Pulmonary artery dilatation - Retrognathia - Spondylolisthesis - Tall stature - Tricuspid valve prolapse - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

### Question: How to diagnose Wilson Disease ? ### Answer:

A health care provider may use several tests and exams to diagnose Wilson disease, including the following: - medical and family history - physical exam - blood tests - urine tests - liver biopsy - imaging tests Health care providers typically see the same symptoms of Wilson disease in other conditions, and the symptoms of Wilson disease do not occur together often, making the disease difficult to diagnose. Medical and Family History A health care provider may take a medical and family history to help diagnose Wilson disease. Physical Exam A physical exam may help diagnose Wilson disease. During a physical exam, a health care provider usually - examines a patients body - uses a stethoscope to listen to sounds related to the abdomen A health care provider will use a special light called a slit lamp to look for Kayser-Fleischer rings in the eyes. Blood Tests A nurse or technician will draw blood samples at a health care providers office or a commercial facility and send the samples to a lab for analysis. A health care provider may - perform liver enzyme or function testsblood tests that may indicate liver abnormalities. - check copper levels in the blood. Since the copper is deposited into the organs and is not circulating in the blood, most people with Wilson disease have a lower-than-normal level of copper in the blood. In cases of acute liver failure caused by Wilson disease, the level of blood copper is often higher than normal. - check the level of ceruloplasmina protein that carries copper in the bloodstream. Most people with Wilson disease have a lower-than-normal ceruloplasmin level. - conduct genetic testing. A health care provider may recommend genetic testing in cases of a known family history of Wilson disease. Urine Tests 24-hour urine collection. A patient will collect urine at home in a special container provided by a health care providers office or a commercial facility. A health care provider sends the sample to a lab for analysis. A 24-hour urine collection will show increased copper in the urine in most patients who have symptoms due to Wilson disease. Liver Biopsy A liver biopsy is a procedure that involves taking a small piece of liver tissue for examination with a microscope for signs of damage or disease. The health care provider may ask the patient to stop taking certain medications temporarily before the liver biopsy. He or she may also ask the patient to fasteat or drink nothingfor 8 hours before the procedure. During the procedure, the patient lies on a table, right hand resting above the head. The health care provider applies a local anesthetic to the area where he or she will insert the biopsy needle. If needed, a health care provider will also give sedatives and pain medication. The health care provider uses the needle to take a small piece of liver tissue. He or she may use ultrasound, computerized tomography scans, or other imaging techniques to guide the needle. After the biopsy, the patient must lie on the right side for up to 2 hours and is monitored an additional 2 to 4 hours before being sent home. A pathologista doctor who specializes in diagnosing diseasesexamines the liver tissue in a lab. The test can show cirrhosis of the liver. Sometimes the liver biopsy will show copper buildup in the liver cells; however, the results can vary because the copper does not always deposit evenly into the liver. Therefore, health care providers often find it more useful to analyze a piece of liver tissue for copper content. Most patients with Wilson disease have high levels of copper in the liver tissue when compared with carriers or with people who do not have Wilson disease. More information is provided in the NIDDK health topic, Liver Biopsy. Imaging Tests A health care provider may order imaging tests to evaluate brain abnormalities in patients who have nervous system symptoms often seen with Wilson disease, or in patients diagnosed with Wilson disease. Health care providers do not use brain imaging tests to diagnose Wilson disease, though certain findings may suggest the patient has the disease. Magnetic resonance imaging (MRI). An MRI is a test that takes pictures of the bodys internal organs and soft tissues without using x rays. A specially trained technician performs the procedure in an outpatient center or a hospital, and a radiologista doctor who specializes in medical imaginginterprets the images. The patient does not need anesthesia, though people with a fear of confined spaces may receive light sedation, taken by mouth. An MRI may include the injection of a special dye, called contrast medium. With most MRI machines, the patient will lie on a table that slides into a tunnel-shaped device that may be open ended or closed at one end. Some machines allow the patient to lie in a more open space. The technician will take a sequence of images from different angles to create a detailed picture of the brain. During sequencing, the patient will hear loud mechanical knocking and humming noises. MRI can show if other diseases or conditions are causing the patients neurological symptoms. Computerized tomography (CT) scan. A CT scan uses a combination of x rays and computer technology to create images. For a CT scan, a health care provider may give the patient a solution to drink and an injection of contrast medium. CT scans require the patient to lie on a table that slides into a tunnel-shaped device where a technician takes the x rays. An x-ray technician performs the procedure in an outpatient center or a hospital. A radiologist interprets the images. The patient does not need anesthesia. A CT scan can show if other diseases or conditions are causing the patients neurological symptoms.

### Question: What is (are) Diabetes ? ### Answer:

Too Much Glucose in the Blood Diabetes means your blood glucose (often called blood sugar) is too high. Your blood always has some glucose in it because your body needs glucose for energy to keep you going. But too much glucose in the blood isn't good for your health. Glucose comes from the food you eat and is also made in your liver and muscles. Your blood carries the glucose to all of the cells in your body. Insulin is a chemical (a hormone) made by the pancreas. The pancreas releases insulin into the blood. Insulin helps the glucose from food get into your cells. If your body does not make enough insulin or if the insulin doesn't work the way it should, glucose can't get into your cells. It stays in your blood instead. Your blood glucose level then gets too high, causing pre-diabetes or diabetes. Types of Diabetes There are three main kinds of diabetes: type 1, type 2, and gestational diabetes. The result of type 1 and type 2 diabetes is the same: glucose builds up in the blood, while the cells are starved of energy. Over the years, high blood glucose damages nerves and blood vessels, oftentimes leading to complications such as heart disease, stroke, blindness, kidney disease, nerve problems, gum infections, and amputation. Type 1 Diabetes Type 1 diabetes, which used to be called called juvenile diabetes or insulin-dependent diabetes, develops most often in young people. However, type 1 diabetes can also develop in adults. With this form of diabetes, your body no longer makes insulin or doesnt make enough insulin because your immune system has attacked and destroyed the insulin-producing cells. About 5 to 10 percent of people with diabetes have type 1 diabetes. To survive, people with type 1 diabetes must have insulin delivered by injection or a pump. Learn more about type 1 diabetes here. Type 2 Diabetes Type 2 diabetes, which used to be called adult-onset diabetes or non insulin-dependent diabetes, is the most common form of diabetes. Although people can develop type 2 diabetes at any age -- even during childhood -- type 2 diabetes develops most often in middle-aged and older people. Type 2 diabetes usually begins with insulin resistancea condition that occurs when fat, muscle, and liver cells do not use insulin to carry glucose into the bodys cells to use for energy. As a result, the body needs more insulin to help glucose enter cells. At first, the pancreas keeps up with the added demand by making more insulin. Over time, the pancreas doesnt make enough insulin when blood sugar levels increase, such as after meals. If your pancreas can no longer make enough insulin, you will need to treat your type 2 diabetes. Learn more about type 2 diabetes here. Gestational Diabetes Some women develop gestational diabetes during the late stages of pregnancy. Gestational diabetes is caused by the hormones of pregnancy or a shortage of insulin. Although this form of diabetes usually goes away after the baby is born, a woman who has had it and her child are more likely to develop diabetes later in life. Prediabetes Prediabetes means your blood glucose levels are higher than normal but not high enough for a diagnosis of diabetes. People with prediabetes are at an increased risk for developing type 2 diabetes and for heart disease and stroke. The good news is that if you have prediabetes, you can reduce your risk of getting type 2 diabetes. With modest weight loss and moderate physical activity, you can delay or prevent type 2 diabetes. Learn more about prediabetes here. Signs of Diabetes Many people with diabetes experience one or more symptoms, including extreme thirst or hunger, a frequent need to urinate and/or fatigue. Some lose weight without trying. Additional signs include sores that heal slowly, dry, itchy skin, loss of feeling or tingling in the feet and blurry eyesight. Some people with diabetes, however, have no symptoms at all. How Many Have Diabetes? Nearly 29 million Americans age 20 or older (12.3 percent of all people in this age group) have diabetes, according to 2014 estimates from the Centers for Disease Control and Prevention (CDC). About 1.9 million people aged 20 years or older were newly diagnosed with diabetes in 2010 alone. People can get diabetes at any age, but the risk increases as we get older. In 2014, over 11 million older adults living in the U.S -- nearly 26 percent of people 65 or older -- had diabetes. See more statistics about diabetes from the National Diabetes Statistics Report 2014. (Centers for Disease Control and Prevention.) If Diabetes is Not Managed Diabetes is a very serious disease. Over time, diabetes that is not well managed causes serious damage to the eyes, kidneys, nerves, heart, gums and teeth. If you have diabetes, you are more likely than people without diabetes to have heart disease or a stroke. People with diabetes also tend to develop heart disease or stroke at an earlier age than others. The best way to protect yourself from the serious complications of diabetes is to manage your blood glucose, blood pressure and cholesterol and to avoid smoking. It is not always easy, but people who make an ongoing effort to manage their diabetes can greatly improve their overall health.

### Question: How to diagnose Aplastic Anemia ? ### Answer:

Your doctor will diagnose aplastic anemia based on your medical and family histories, a physical exam, and test results. Once your doctor knows the cause and severity of the condition, he or she can create a treatment plan for you. Specialists Involved If your primary care doctor thinks you have aplastic anemia, he or she may refer you to a hematologist. A hematologist is a doctor who specializes in treating blood diseases and disorders. Medical and Family Histories Your doctor may ask questions about your medical history, such as whether: You've had anemia or a condition that can cause anemia You have shortness of breath, dizziness, headaches, or other signs and symptoms of anemia You've been exposed to certain toxins or medicines You've had radiation or chemotherapy (treatments for cancer) You've had infections or signs of infections, such as fever You bruise or bleed easily Your doctor also may ask whether any of your family members have had anemia or other blood disorders. Physical Exam Your doctor will do a physical exam to check for signs of aplastic anemia. He or she will try to find out how severe the disorder is and what's causing it. The exam may include checking for pale or yellowish skin and signs of bleeding or infection. Your doctor may listen to your heart and lungs for abnormal heartbeats and breathing sounds. He or she also may feel your abdomen to check the size of your liver and feel your legs for swelling. Diagnostic Tests Many tests are used to diagnose aplastic anemia. These tests help: Confirm a diagnosis of aplastic anemia, look for its cause, and find out how severe it is Rule out other conditions that may cause similar symptoms Check for paroxysmal nocturnal hemoglobinuria (PNH) Complete Blood Count Often, the first test used to diagnose aplastic anemia is a complete blood count (CBC). The CBC measures many parts of your blood. This test checks your hemoglobin and hematocrit (hee-MAT-oh-crit) levels. Hemoglobin is an iron-rich protein in red blood cells. It carries oxygen to the body. Hematocrit is a measure of how much space red blood cells take up in your blood. A low level of hemoglobin or hematocrit is a sign of anemia. The normal range of these levels varies in certain racial and ethnic populations. Your doctor can explain your test results to you. The CBC also checks the number of red blood cells, white blood cells, and platelets in your blood. Abnormal results may be a sign of aplastic anemia, an infection, or another condition. Finally, the CBC looks at mean corpuscular (kor-PUS-kyu-lar) volume (MCV). MCV is a measure of the average size of your red blood cells. The results may be a clue as to the cause of your anemia. Reticulocyte Count A reticulocyte (re-TIK-u-lo-site) count measures the number of young red blood cells in your blood. The test shows whether your bone marrow is making red blood cells at the correct rate. People who have aplastic anemia have low reticulocyte levels. Bone Marrow Tests Bone marrow tests show whether your bone marrow is healthy and making enough blood cells. The two bone marrow tests are aspiration (as-pi-RA-shun) and biopsy. Bone marrow aspiration may be done to find out if and why your bone marrow isn't making enough blood cells. For this test, your doctor removes a small amount of bone marrow fluid through a needle. The sample is looked at under a microscope to check for faulty cells. A bone marrow biopsy may be done at the same time as an aspiration or afterward. For this test, your doctor removes a small amount of bone marrow tissue through a needle. The tissue is checked for the number and types of cells in the bone marrow. In aplastic anemia, the bone marrow has a lower than normal number of all three types of blood cells. Other Tests Other conditions can cause symptoms similar to those of aplastic anemia. Thus, other tests may be needed to rule out those conditions. These tests may include: X ray, computed tomography (CT) scan, or an ultrasound imaging test. These tests can show enlarged lymph nodes in your abdomen. Enlarged lymph nodes may be a sign of blood cancer. Doctors also may use these tests to look at the kidneys and the bones in the arms and hands, which are sometimes abnormal in young people who have Fanconi anemia. This type of anemia can lead to aplastic anemia. Chest x ray. This test creates pictures of the structures inside your chest, such as your heart, lungs, and blood vessels. A chest x ray may be used to rule out infections. Liver tests and viral studies. These tests are used to check for liver diseases and viruses. Tests that check vitamin B12 and folate levels in the blood. These tests can help rule out anemia caused by vitamin deficiency. Your doctor also may recommend blood tests for PNH and to check your immune system for proteins called antibodies. (Antibodies in the immune system that attack your bone marrow cells may cause aplastic anemia.)

### Question: How to diagnose Vasculitis ? ### Answer:

Your doctor will diagnose vasculitis based on your signs and symptoms, your medical history, a physical exam, and test results. Specialists Involved Depending on the type of vasculitis you have and the organs affected, your doctor may refer you to various specialists, including: A rheumatologist (joint and muscle specialist) An infectious disease specialist A dermatologist (skin specialist) A pulmonologist (lung specialist) A nephrologist (kidney specialist) A neurologist (nervous system specialist) A cardiologist (heart specialist) An ophthalmologist (eye specialist) A urologist (urinary tract and urogenital system specialist) Diagnostic Tests and Procedures Many tests are used to diagnose vasculitis. Blood Tests Blood tests can show whether you have abnormal levels of certain blood cells and antibodies (proteins) in your blood. These tests may look at: Hemoglobin and hematocrit. A low hemoglobin or hematocrit level suggests anemia, a complication of vasculitis. Vasculitis can interfere with the body's ability to make enough red blood cells. Vasculitis also can be linked to increased destruction of red blood cells. Antineutrophil cytoplasmic antibodies (ANCA). These antibodies are present in people who have certain types of vasculitis. Erythrocyte sedimentation rate (ESR). A high ESR may be a sign of inflammation in the body. The amount of C-reactive protein (CRP) in your blood. A high CRP level suggests inflammation. Biopsy A biopsy often is the best way for your doctor to make a firm diagnosis of vasculitis. During a biopsy, your doctor will take a small sample of your body tissue to study under a microscope. He or she will take the tissue sample from a blood vessel or an organ. A pathologist will study the sample for signs of inflammation or tissue damage. A pathologist is a doctor who specializes in identifying diseases by studying cells and tissues under a microscope. Blood Pressure People who have vasculitis should have their blood pressure checked routinely. Vasculitis that damages the kidneys can cause high blood pressure. Urinalysis For this test, you'll provide a urine sample for analysis. This test detects abnormal levels of protein or blood cells in the urine. Abnormal levels of these substances can be a sign of vasculitis affecting the kidneys. EKG (Electrocardiogram) An EKG is a simple, painless test that records the heart's electrical activity. You might have this test to show whether vasculitis is affecting your heart. Echocardiography Echocardiography is a painless test that uses sound waves to create a moving picture of your heart. The test gives information about the size and shape of your heart and how well your heart chambers and valves are working. Chest X Ray A chest x ray is a painless test that creates pictures of the structures inside your chest, such as your heart, lungs, and blood vessels. Abnormal chest x-ray results may show whether vasculitis is affecting your lungs or your large arteries (such as the aorta or the pulmonary arteries). Lung Function Tests Lung function tests measure how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs deliver oxygen to your blood. Lung function tests can help your doctor find out whether airflow into and out of your lungs is restricted or blocked. Abdominal Ultrasound An abdominal ultrasound uses sound waves to create a picture of the organs and structures in your abdomen. The picture may show whether vasculitis is affecting your abdominal organs. Computed Tomography Scan A computed tomography (to-MOG-rah-fee) scan, or CT scan, is a type of x ray that creates more detailed pictures of your internal organs than a standard x ray. The results from this test can show whether you have a type of vasculitis that affects your abdominal organs or blood vessels. Magnetic Resonance Imaging A magnetic resonance imaging (MRI) test uses radio waves, magnets, and a computer to create detailed pictures of your internal organs. Other Advanced Imaging Techniques Several new imaging techniques are now being used to help diagnose vasculitis. Duplex ultrasonography combines an image of the structure of the blood vessel with a color image of the blood flow through that vein or artery. 18F-fluorodeoxyglucose positron emission tomography (FDG-PET) identifies areas that show higher glucose metabolism leading to problems in the blood vessels. Angiography Angiography (an-jee-OG-ra-fee) is a test that uses dye and special x rays to show blood flowing through your blood vessels. The dye is injected into your bloodstream. Special x-ray pictures are taken while the dye flows through your blood vessels. The dye helps highlight the vessels on the x-ray pictures. Doctors use angiography to help find out whether blood vessels are narrowed, swollen, deformed, or blocked.

### Question: What are the treatments for Dry Eye ? ### Answer:

Self Care - Try over-the-counter remedies such as artificial tears, gels, gel inserts, and ointments. They offer temporary relief and can provide an important replacement of naturally produced tears. - Avoid remedies containing preservatives if you need to apply them more than four times a day or preparations with chemicals that cause blood vessels to constrict. - Wearing glasses or sunglasses that fit close to the face (wrap around shades) or that have side shields can help slow tear evaporation from the eye surfaces. - Indoors, an air cleaner to filter dust and other particles can help your eyes feel more comfortable. A humidifier also may help by adding moisture to the air. - Avoid dry conditions. - Allow your eyes to rest when doing activities that require you to use your eyes for long periods of time. Use lubricating eye drops while performing these tasks. Try over-the-counter remedies such as artificial tears, gels, gel inserts, and ointments. They offer temporary relief and can provide an important replacement of naturally produced tears. Avoid remedies containing preservatives if you need to apply them more than four times a day or preparations with chemicals that cause blood vessels to constrict. Wearing glasses or sunglasses that fit close to the face (wrap around shades) or that have side shields can help slow tear evaporation from the eye surfaces. Indoors, an air cleaner to filter dust and other particles can help your eyes feel more comfortable. A humidifier also may help by adding moisture to the air. Avoid dry conditions. Allow your eyes to rest when doing activities that require you to use your eyes for long periods of time. Use lubricating eye drops while performing these tasks. If symptoms of dry eye persist, consult an eye care professional to get an accurate diagnosis of the condition and begin treatment to avoid permanent damage. Goal of Treatment Dry eye can be a temporary or ongoing condition, so treatments can be short term or may extend over long periods of time. The goal of treatment is to keep the eyes moist and relieve symptoms. (This short video discusses causes, symptoms, and treatments for dry eye.) Talk to your doctor to rule out other conditions that can cause dry eye, such as Sjgren's syndrome. You may need to treat these conditions. If dry eye results from taking a medication, your doctor may recommend switching to a medication that does not cause dry eye as a side effect. Types of Treatments - Medication. Cyclosporine, an anti-inflammatory medication, is a prescription eye drop available to treat certain kinds of dry eye. In people with certain kinds of dry eye, it may decrease damage to the cornea, increase basic tear production, and reduce symptoms of dry eye. It may take three to six months of twice-a-day dosages for the medication to work. Some patients with severe dry eye may need to use corticosteroid eye drops that decrease inflammation. - Nutritional Supplements. In some patients with dry eye, supplements of omega-3 fatty acids (especially ones called DHA and EPA) may decrease symptoms of irritation. Talk with your eye care professional or your primary medical doctor about whether this is an option for you. - Lenses. If dry eye is a result of wearing contact lens for too long, your eye care practitioner may recommend another type of lens or reducing the number of hours you wear your lenses. In the case of severe dry eye, your eye care professional may advise you not to wear contact lenses at all. - Punctal plugs. Another option to increase the available tears on the eye surface is to plug the small circular openings at the inner corners of the eyelids where tears drain from the eye into the nose. Lacrimal plugs, also called punctal plugs, can be inserted painlessly by an eye care professional. These plugs are made of silicone or collagen. These plugs can be temporary or permanent. - Punctal cautery. In some cases, a simple surgery called punctal cautery is recommended to permanently close the drainage holes. The procedure works similarly to installing punctal plugs, but cannot be reversed. Medication. Cyclosporine, an anti-inflammatory medication, is a prescription eye drop available to treat certain kinds of dry eye. In people with certain kinds of dry eye, it may decrease damage to the cornea, increase basic tear production, and reduce symptoms of dry eye. It may take three to six months of twice-a-day dosages for the medication to work. Some patients with severe dry eye may need to use corticosteroid eye drops that decrease inflammation. Nutritional Supplements. In some patients with dry eye, supplements of omega-3 fatty acids (especially ones called DHA and EPA) may decrease symptoms of irritation. Talk with your eye care professional or your primary medical doctor about whether this is an option for you. Lenses. If dry eye is a result of wearing contact lens for too long, your eye care practitioner may recommend another type of lens or reducing the number of hours you wear your lenses. In the case of severe dry eye, your eye care professional may advise you not to wear contact lenses at all. Punctal plugs. Another option to increase the available tears on the eye surface is to plug the small circular openings at the inner corners of the eyelids where tears drain from the eye into the nose. Lacrimal plugs, also called punctal plugs, can be inserted painlessly by an eye care professional. These plugs are made of silicone or collagen. These plugs can be temporary or permanent. Punctal cautery. In some cases, a simple surgery called punctal cautery is recommended to permanently close the drainage holes. The procedure works similarly to installing punctal plugs, but cannot be reversed.

### Question: What are the symptoms of McCune Albright syndrome ? ### Answer:

What are the signs and symptoms of McCune Albright syndrome? People with McCune Albright syndrome (MAS) may have symptoms related to bones, the endocrine system, and/or skin. The symptoms can range from mild to severe. Bone symptoms may include: Polyostotic fibrous dysplasia: This is when normal bone is replaced by softer, fibrous tissue. Polyostotic means the abnormal areas may occur in many bones; often they are confined to one side of the body. Replacement of bone with fibrous tissue may lead to fractures, uneven growth, and deformity. When it occurs in skull and jaw it can result in uneven growth of the face. This may also occur in the long bones; uneven growth of leg bones may cause limping. Abnormal curvature of the spine (scoliosis) Cancer: Bone lesions may become cancerous, but this happens in less than 1% of people with MAS. Endocrine symptoms may include: Early puberty: Girls with MAS usually reach puberty early. They often have menstrual bleeding by age 2 (as early as 4-6 months in some), many years before characteristics such as breast enlargement and pubic hair growth are evident. This early onset of menstruation is believed to be caused by excess estrogen, a female sex hormone produced by cysts that develop in one of the ovaries. Less commonly, boys with MAS may also experience early puberty. Enlarged thyroid gland: The thyroid gland may become enlarged (a condition called a goiter) or develop masses called nodules. About half of affected individuals produce excessive amounts of thyroid hormone (hyperthyroidism), resulting in a fast heart rate, high blood pressure, weight loss, tremors, sweating, and other symptoms. Increased production of growth hormone: The pituitary gland may produce too much growth hormone. This can result in acromegaly, a condition characterized by large hands and feet, arthritis, and distinctive facial features that are often described as "coarse." Cushings syndrome: Rarely, individuals with MAS produce too much of the hormone cortisol in the adrenal glands. Cushing's syndrome causes weight gain in the face and upper body, slowed growth in children, fragile skin, fatigue, and other health problems. Skin symptoms may include: Cafe-au-lait spots: Individuals with MAS usually have light brown patches of skin called cafe-au-lait spots. Like the bone lesions, these spots often appear on only one side of the body. Most children have these spots from birth and the spots rarely grow. There are usually not any medical problems caused by these skin changes. The Human Phenotype Ontology provides the following list of signs and symptoms for McCune Albright syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bone pain 90% Cafe-au-lait spot 90% Generalized hyperpigmentation 90% Hypophosphatemia 90% Precocious puberty 90% Recurrent fractures 90% Reduced bone mineral density 90% Skeletal dysplasia 90% Abnormality of coagulation 7.5% Abnormality of dental enamel 7.5% Abnormality of the palate 7.5% Carious teeth 7.5% Dental malocclusion 7.5% Elevated hepatic transaminases 7.5% Goiter 7.5% Hearing abnormality 7.5% Hypercortisolism 7.5% Hyperparathyroidism 7.5% Hyperthyroidism 7.5% Kyphosis 7.5% Long penis 7.5% Macrocephaly 7.5% Macroorchidism 7.5% Mandibular prognathia 7.5% Neoplasm of the breast 7.5% Neoplasm of the thyroid gland 7.5% Optic atrophy 7.5% Polycystic ovaries 7.5% Sarcoma 7.5% Tall stature 7.5% Testicular neoplasm 7.5% Blindness - Craniofacial hyperostosis - Facial asymmetry - Growth hormone excess - Hearing impairment - Intestinal polyposis - Large cafe-au-lait macules with irregular margins - Pathologic fracture - Phenotypic variability - Pituitary adenoma - Polyostotic fibrous dysplasia - Prolactin excess - Somatic mosaicism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

### Question: What are the symptoms of Microcephalic osteodysplastic primordial dwarfism type 1 ? ### Answer:

What are the signs and symptoms of Microcephalic osteodysplastic primordial dwarfism type 1? Individuals with MOPD1 may have low birth weight, growth retardation, short limbs, broad hands, small head size (microcephaly), abnormal bone growth (skeletal dysplasia) and a distinct facial appearance. Facial characteristics may include a sloping forehead; protruding eyes; prominent nose with a flat nasal bridge; and small jaw (micrognathia). In addition, babies with MOPD1 may experience short episodes of stopped breathing (apnea) and seizures. Affected individuals also commonly have sparse hair and eyebrows; dry skin; dislocation of the hips or elbows; and intellectual disability. Brain abnormalities that have been reported include lissencephaly, hypoplastic (underdeveloped) frontal lobes, and agenesis of the corpus callosum or cerebellar vermis (the nerve tissue that connects the two halves of the cerebellum). The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephalic osteodysplastic primordial dwarfism type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormal hair quantity 90% Abnormal nasal morphology 90% Abnormal vertebral ossification 90% Abnormality of calcium-phosphate metabolism 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the clavicle 90% Abnormality of the distal phalanx of finger 90% Abnormality of the eyelashes 90% Abnormality of the femur 90% Abnormality of the intervertebral disk 90% Abnormality of the metacarpal bones 90% Abnormality of the metaphyses 90% Abnormality of the upper urinary tract 90% Aplasia/Hypoplasia of the eyebrow 90% Brachydactyly syndrome 90% Cognitive impairment 90% Convex nasal ridge 90% Delayed skeletal maturation 90% Glaucoma 90% Hypertonia 90% Intrauterine growth retardation 90% Large hands 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Micromelia 90% Premature birth 90% Prominent occiput 90% Proptosis 90% Reduced bone mineral density 90% Respiratory insufficiency 90% Seizures 90% Short neck 90% Short stature 90% Single transverse palmar crease 90% Abnormality of the tragus 50% Cleft palate 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% Dolichocephaly 50% Hypoplasia of the zygomatic bone 50% Sloping forehead 50% Thick lower lip vermilion 50% Thickened nuchal skin fold 50% 11 pairs of ribs - Abnormality of the pinna - Absent knee epiphyses - Agenesis of cerebellar vermis - Agenesis of corpus callosum - Atria septal defect - Autosomal recessive inheritance - Bowed humerus - Cleft vertebral arch - Coarctation of aorta - Disproportionate short stature - Dry skin - Elbow dislocation - Elbow flexion contracture - Enlarged metaphyses - Failure to thrive - Femoral bowing - Heterotopia - Hip contracture - Hip dislocation - Hyperkeratosis - Hypoplasia of the frontal lobes - Hypoplastic ilia - Intellectual disability - Knee flexion contracture - Long clavicles - Long foot - Low-set ears - Micropenis - Microtia - Oligohydramnios - Pachygyria - Platyspondyly - Prolonged neonatal jaundice - Prominent nose - Renal cyst - Renal hypoplasia - Short femur - Short humerus - Short metacarpal - Shoulder flexion contracture - Small anterior fontanelle - Sparse eyebrow - Sparse eyelashes - Sparse scalp hair - Stillbirth - Tetralogy of Fallot - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

### Question: What is (are) Problems with Smell ? ### Answer:

Our sense of smell helps us enjoy life. We delight in the aromas of our favorite foods or the fragrance of flowers. Our sense of smell also is a warning system, alerting us to danger signals such as a gas leak, spoiled food, or a fire. Any loss in our sense of smell can have a negative effect on our quality of life. It also can be a sign of more serious health problems. Aging and Smell Loss Problems with smell increase as people get older, and they are more common in men than women. In one study, nearly one-quarter of men ages 6069 had a smell disorder, while about 11 percent of women in that age range reported a problem. Many older people are not even aware that they have a problem with their sense of smell because the changes occur gradually over several years. They may not even notice that they are experiencing a loss of smell until there is an incident in which they don't detect food that has spoiled or the presence of dangerous smoke. How Our Sense of Smell Works The sense of smell, or olfaction, is part of our chemical sensing system, along with the sense of taste. Normal smell occurs when odors around us, like the fragrance of flowers or the smell of baking bread, stimulate the specialized sensory cells, called olfactory sensory cells. Olfactory sensory cells are located in a small patch of tissue high inside the nose. Odors reach the olfactory sensory cells in two pathways. The first pathway is by inhaling, or sniffing, through your nose. When people think about smell, they generally think of this pathway. The second pathway is less familiar. It is a channel that connects the roof of the throat region to the nose. When we chew our food, aromas are released that access olfactory sensory cells through this channel. If you are congested due to a head cold or sinus infection, this channel is blocked, which temporarily affects your ability to appreciate the flavors of food. Types of Smell Disorders People who experience smell disorders either have a decrease in their ability to smell or changes in the way they perceive odors. Total smell loss is relatively rare, but a decrease in the sense of smell occurs more often, especially in older adults. A decreased sense of smell may be temporary and treatable with medication. There are several types of smell disorders depending on how the sense of smell is affected. - Some people have hyposmia, which occurs when their ability to detect certain odors is reduced. - Other people can't detect odor at all, which is called anosmia. - Sometimes a loss of smell can be accompanied by a change in the perception of odors. This type of smell disorder is called dysosmia. Familiar odors may become distorted, or an odor that usually smells pleasant instead smells foul. - Still others may perceive a smell that isn't present at all, which is called phantosmia. - Smell loss due to aging is called presbyosmia. Some people have hyposmia, which occurs when their ability to detect certain odors is reduced. Other people can't detect odor at all, which is called anosmia. Sometimes a loss of smell can be accompanied by a change in the perception of odors. This type of smell disorder is called dysosmia. Familiar odors may become distorted, or an odor that usually smells pleasant instead smells foul. Still others may perceive a smell that isn't present at all, which is called phantosmia. Smell loss due to aging is called presbyosmia. Smell Loss May Signal Other Conditions Problems with our chemical senses may be a sign of other serious health conditions. A smell disorder can be an early sign of Parkinsons disease, Alzheimers disease, or multiple sclerosis. It can also be related to other medical conditions, such as obesity, diabetes, hypertension, and malnutrition. Getting a diagnosis early will help an individual deal better with the underlying condition or disease. Smell and Taste Smell and taste are closely linked in the brain, but are actually distinct sensory systems. True tastes are detected by taste buds on the tongue and the roof of the mouth, as well as in the throat region, and are limited to sweet, salty, sour, bitter, savory and perhaps a few other sensations. The loss of smell is much more common than the loss of taste, and many people mistakenly believe they have a problem with taste, when they are really experiencing a problem with their sense of smell. A loss in taste or smell is diagnosed by your doctor using special taste and smell tests. Smell Loss and Eating Habits When smell is impaired, people usually have problems appreciating the subtle flavors of food, and say that food is less enjoyable. Some people change their eating habits. Some may eat too little and lose weight while others may eat too much and gain weight. Either way, there may be a long-term impact on one's overall health. Loss of smell may also cause us to eat too much sugar or salt to make our food taste better. This can be a problem for people with certain medical conditions, such as diabetes or high blood pressure. In severe cases, loss of smell can lead to depression. Hazards of Smell Loss Research shows that people with a total or partial loss of smell are almost twice as likely as people with normal smell to have certain kinds of accidents. The most common types of accidents in order of frequency involve - cooking - eating or drinking spoiled foods or toxic substances - failing to detect gas leaks or fires cooking eating or drinking spoiled foods or toxic substances failing to detect gas leaks or fires If you think you have a problem with your sense of smell, see your doctor.

### Question: What are the symptoms of Coffin-Siris syndrome ? ### Answer:

What are the signs and symptoms of Coffin-Siris syndrome? The signs and symptoms of Coffin-Siris syndrome vary. More commonly described symptoms include: Mild to severe intellectual disability Mild to severe speech delay Mild to severe delay in motor skills, such as sitting and walking Underdeveloped fingertips or toes Missing pinky fingernails or toenails Distinctive facial features, such as a wide mouth, thick lips, thick eyelashes and brows, wide nose, and flat nasal bridge Extra hair growth on the face and body Sparse scalp hair Other symptoms that have been described in infants and children with Coffin-Siris syndrome include: Small head size Frequent respiratory infections in infancy Feeding difficulty in infancy Failure to thrive Short stature Low muscle tone Loose joints Eye abnormalities Heart abnormalities Brain abnormalities Kidney abnormalities The Human Phenotype Ontology provides the following list of signs and symptoms for Coffin-Siris syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Abnormality of the teeth 90% Anonychia 90% Coarse facial features 90% Cognitive impairment 90% Feeding difficulties in infancy 90% Hypertrichosis 90% Microcephaly 90% Muscular hypotonia 90% Short distal phalanx of finger 90% Short stature 90% Slow-growing hair 90% Thick eyebrow 90% Thick lower lip vermilion 90% Aplasia/Hypoplasia of the cerebellum 50% Cryptorchidism 50% Dandy-Walker malformation 50% Depressed nasal bridge 50% Depressed nasal ridge 50% Elbow dislocation 50% Hearing impairment 50% Intrauterine growth retardation 50% Joint hypermobility 50% Nystagmus 50% Patellar aplasia 50% Recurrent respiratory infections 50% Scoliosis 50% Seizures 50% Strabismus 50% Wide mouth 50% Abnormal localization of kidney 7.5% Abnormality of the clavicle 7.5% Abnormality of the hip bone 7.5% Abnormality of the intervertebral disk 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Aplastic/hypoplastic toenail 7.5% Cataract 7.5% Cleft palate 7.5% Congenital diaphragmatic hernia 7.5% Cutis marmorata 7.5% Epicanthus 7.5% Kyphosis 7.5% Lacrimation abnormality 7.5% Ptosis 7.5% Renal hypoplasia/aplasia 7.5% Short philtrum 7.5% Single transverse palmar crease 7.5% Spina bifida occulta 7.5% Aggressive behavior - Aplasia of the uterus - Aplasia/Hypoplasia of the patella - Astigmatism - Atria septal defect - Autistic behavior - Autosomal recessive inheritance - Broad nasal tip - Choanal atresia - Coxa valga - Delayed eruption of teeth - Delayed skeletal maturation - Dislocated radial head - Duodenal ulcer - Ectopic kidney - Facial hypertrichosis - Gastric ulcer - Hemangioma - High palate - Hydronephrosis - Hypoplasia of the corpus callosum - Hypoplastic fifth fingernail - Hypospadias - Hypotelorism - Inguinal hernia - Intellectual disability - Intestinal malrotation - Intussusception - Joint laxity - Long eyelashes - Lumbosacral hirsutism - Myopia - Partial agenesis of the corpus callosum - Patent ductus arteriosus - Postnatal growth retardation - Preauricular skin tag - Renal hypoplasia - Sacral dimple - Severe expressive language delay - Short distal phalanx of the 5th finger - Short distal phalanx of the 5th toe - Short sternum - Sparse scalp hair - Tetralogy of Fallot - Umbilical hernia - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

### Question: What to do for Alzheimer's Caregiving ? ### Answer:

Most people with Alzheimers disease are cared for at home by family members. Within families, caregiving is provided most often by wives and husbands, followed by daughters. As Alzheimers disease gets worse, the person will need more and more care. Because of this, you will need more help. It's okay to seek help whenever you need it. Building a local support system is a key way to get help. This system might include a caregiver support group, the local chapter of the Alzheimer's Association, family, friends, and faith groups. To learn where to get help in your community, contact - the Alzheimers Disease Education and Referral (ADEAR) Center, 1-800-438-4380 or visit www.nia.nih.gov/alzheimers - the Alzheimer's Association at 1-800-272-3900. the Alzheimers Disease Education and Referral (ADEAR) Center, 1-800-438-4380 or visit www.nia.nih.gov/alzheimers the Alzheimer's Association at 1-800-272-3900. Various professional services can help with everyday care in the home of someone with Alzheimers disease. Medicare, Medicaid, and other health insurance plans may help pay for these services. Contact Eldercare Locator to find the services you need in your area by calling 1-800-677-1116 or visiting www.eldercare.gov. Home Health Care Services Home health care agencies send a home health aide or nurse to your home to help you care for a person with Alzheimers. They may come for a few hours or stay for 24 hours and are paid by the hour. Some home health aides are better trained and supervised than others. Ask your doctor or other health care professional about good home health care services in your area. Get as much information as possible about a service before you sign an agreement. Also, ask for and check references Here are some questions to ask before signing a home health care agreement. - Is your service licensed and accredited? - How much do your services cost? - What is included and not included in your services? - How many days a week and hours a day will an aide come to my home? - How do you check the background and experience of your home health aides? - How do you train your home health aides? - What types of emergency care can you provide? - Who do I contact if there is a problem? Is your service licensed and accredited? How much do your services cost? What is included and not included in your services? How many days a week and hours a day will an aide come to my home? How do you check the background and experience of your home health aides? How do you train your home health aides? What types of emergency care can you provide? Who do I contact if there is a problem? For information about how to find home health care services, see Caring for a Person with Alzheimers Disease. Meal Services Meal services bring hot meals to the person's home or your home. The delivery staff does not feed the person. The person with Alzheimers disease must qualify for the service based on local guidelines. Some groups do not charge for their services. Others may charge a small fee. For information, call Eldercare Locator at 1-800-677-1116 or go to www.eldercare.gov. You may also contact Meals on Wheels at 1-888-998-6325. Adult Day Care Services Adult day care services provide a safe environment, activities, and staff who take care of the person with Alzheimers at their own facility. This provides a much-needed break for you. Many programs provide transportation between the persons home and the facility. Adult day care services generally charge by the hour. Most insurance plans do not cover these costs. To find adult day care services in your area, contact the National Adult Day Services Association at 1-877-745-1440. Watch a video to learn more about the services provided at adult day care. Respite Services Respite services provide short stays, from a few days to a few weeks, in a nursing home or other place for the person with Alzheimers disease. This care allows you to get a break or go on a vacation. Respite services charge by the number of days or weeks that services are provided. Medicare or Medicaid may cover the cost of up to 5 days in a row of respite care in an inpatient facility. Most private insurance plans do not cover these costs. To find respite services in your community, call the National Respite Locator Service at 1-800-773-5433 (toll-free). Geriatric Care Managers Geriatric care managers visit your home to assess your needs and suggest and arrange home-care services. They charge by the hour. Most insurance plans don't cover these costs. To find a geriatric care manager, contact the National Association of Professional Geriatric Care Managers at 1-520-881-8008. Mental Health Professionals and Social Workers Mental health professionals and social workers help you deal with any stress you may be feeling. They help you understand feelings, such as anger, sadness, or feeling out of control. They can also help you make plans for unexpected or sudden events. Mental health professionals charge by the hour. Medicare, Medicaid, and some private health insurance plans may cover some of these costs. Ask your health insurance plan which mental health counselors and services it covers. Then check with your doctor, local family service agencies, and community mental health agencies for referrals to counselors.

### Question: How to diagnose Pernicious Anemia ? ### Answer:

Your doctor will diagnose pernicious anemia based on your medical and family histories, a physical exam, and test results. Your doctor will want to find out whether the condition is due to a lack of intrinsic factor or another cause. He or she also will want to find out the severity of the condition, so it can be properly treated. Specialists Involved Primary care doctorssuch as family doctors, internists, and pediatricians (doctors who treat children)often diagnose and treat pernicious anemia. Other kinds of doctors also may be involved, including: A neurologist (nervous system specialist) A cardiologist (heart specialist) A hematologist (blood disease specialist) A gastroenterologist (digestive tract specialist) Medical and Family Histories Your doctor may ask about your signs and symptoms. He or she also may ask: Whether you've had any stomach or intestinal surgeries Whether you have any digestive disorders, such as celiac disease or Crohn's disease About your diet and any medicines you take Whether you have a family history of anemia or pernicious anemia Whether you have a family history of autoimmune disorders (such as Addison's disease, type 1 diabetes, Graves' disease, or vitiligo). Research suggests a link may exist between these autoimmune disorders and pernicious anemia that's caused by an autoimmune response. Physical Exam During the physical exam, your doctor may check for pale or yellowish skin and an enlarged liver. He or she may listen to your heart for rapid or irregular heartbeats or a heart murmur. Your doctor also may check for signs of nerve damage. He or she may want to see how well your muscles, eyes, senses, and reflexes work. Your doctor may ask questions or do tests to check your mental status, coordination, and ability to walk. Diagnostic Tests and Procedures Blood tests and procedures can help diagnose pernicious anemia and find out what's causing it. Complete Blood Count Often, the first test used to diagnose many types of anemia is a complete blood count (CBC). This test measures many parts of your blood. For this test, a small amount of blood is drawn from a vein (usually in your arm) using a needle. A CBC checks your hemoglobin (HEE-muh-glow-bin) and hematocrit (hee-MAT-oh-crit) levels. Hemoglobin is an iron-rich protein that helps red blood cells carry oxygen from the lungs to the rest of the body. Hematocrit is a measure of how much space red blood cells take up in your blood. A low level of hemoglobin or hematocrit is a sign of anemia. The normal range of these levels may be lower in certain racial and ethnic populations. Your doctor can explain your test results to you. The CBC also checks the number of red blood cells, white blood cells, and platelets (PLATE-lets) in your blood. Abnormal results may be a sign of anemia, another blood disorder, an infection, or another condition. Finally, the CBC looks at mean corpuscular (kor-PUS-kyu-lar) volume (MCV). MCV is a measure of the average size of your red blood cells. MCV can be a clue as to what's causing your anemia. In pernicious anemia, the red blood cells tend to be larger than normal. Other Blood Tests If the CBC results confirm that you have anemia, you may need other blood tests to find out what type of anemia you have. A reticulocyte (re-TIK-u-lo-site) count measures the number of young red blood cells in your blood. The test shows whether your bone marrow is making red blood cells at the correct rate. People who have pernicious anemia have low reticulocyte counts. Serum folate, iron, and iron-binding capacity tests also can help show whether you have pernicious anemia or another type of anemia. Another common test, called the Combined Binding Luminescence Test, sometimes gives false results. Scientists are working to develop a more reliable test. Your doctor may recommend other blood tests to check: Your vitamin B12 level. A low level of vitamin B12 in the blood indicates pernicious anemia. However, a falsely normal or high value of vitamin B12 in the blood may occur if antibodies interfere with the test. Your homocysteine and methylmalonic acid (MMA) levels. High levels of these substances in your body are a sign of pernicious anemia. For intrinsic factor antibodies and parietal cell antibodies. These antibodies also are a sign of pernicious anemia. Bone Marrow Tests Bone marrow tests can show whether your bone marrow is healthy and making enough red blood cells. The two bone marrow tests are aspiration (as-pi-RA-shun) and biopsy. For aspiration, your doctor removes a small amount of fluid bone marrow through a needle. For a biopsy, your doctor removes a small amount of bone marrow tissue through a larger needle. The samples are then examined under a microscope. In pernicious anemia, the bone marrow cells that turn into blood cells are larger than normal.

### Question: What causes Pneumonia ? ### Answer:

Many germs can cause pneumonia. Examples include different kinds of bacteria, viruses, and, less often, fungi. Most of the time, the body filters germs out of the air that we breathe to protect the lungs from infection. Your immune system, the shape of your nose and throat, your ability to cough, and fine, hair-like structures called cilia (SIL-e-ah) help stop the germs from reaching your lungs. (For more information, go to the Diseases and Conditions Index How the Lungs Work article.) Sometimes, though, germs manage to enter the lungs and cause infections. This is more likely to occur if: Your immune system is weak A germ is very strong Your body fails to filter germs out of the air that you breathe For example, if you can't cough because you've had a stroke or are sedated, germs may remain in your airways. ("Sedated" means you're given medicine to make you sleepy.) When germs reach your lungs, your immune system goes into action. It sends many kinds of cells to attack the germs. These cells cause the alveoli (air sacs) to become red and inflamed and to fill up with fluid and pus. This causes the symptoms of pneumonia. Germs That Can Cause Pneumonia Bacteria Bacteria are the most common cause of pneumonia in adults. Some people, especially the elderly and those who are disabled, may get bacterial pneumonia after having the flu or even a common cold. Many types of bacteria can cause pneumonia. Bacterial pneumonia can occur on its own or develop after you've had a cold or the flu. This type of pneumonia often affects one lobe, or area, of a lung. When this happens, the condition is called lobar pneumonia. The most common cause of pneumonia in the United States is the bacterium Streptococcus (strep-to-KOK-us) pneumoniae, or pneumococcus (nu-mo-KOK-us). Lobar Pneumonia Another type of bacterial pneumonia is called atypical pneumonia. Atypical pneumonia includes: Legionella pneumophila. This type of pneumonia sometimes is called Legionnaire's disease, and it has caused serious outbreaks. Outbreaks have been linked to exposure to cooling towers, whirlpool spas, and decorative fountains. Mycoplasma pneumonia. This is a common type of pneumonia that usually affects people younger than 40 years old. People who live or work in crowded places like schools, homeless shelters, and prisons are at higher risk for this type of pneumonia. It's usually mild and responds well to treatment with antibiotics. However, mycoplasma pneumonia can be very serious. It may be associated with a skin rash and hemolysis (the breakdown of red blood cells). Chlamydophila pneumoniae. This type of pneumonia can occur all year and often is mild. The infection is most common in people 65 to 79 years old. Viruses Respiratory viruses cause up to one-third of the pneumonia cases in the United States each year. These viruses are the most common cause of pneumonia in children younger than 5 years old. Most cases of viral pneumonia are mild. They get better in about 1 to 3 weeks without treatment. Some cases are more serious and may require treatment in a hospital. If you have viral pneumonia, you run the risk of getting bacterial pneumonia as well. The flu virus is the most common cause of viral pneumonia in adults. Other viruses that cause pneumonia include respiratory syncytial virus, rhinovirus, herpes simplex virus, severe acute respiratory syndrome (SARS), and more. Fungi Three types of fungi in the soil in some parts of the United States can cause pneumonia. These fungi are: Coccidioidomycosis (kok-sid-e-OY-do-mi-KO-sis). This fungus is found in Southern California and the desert Southwest. Histoplasmosis (HIS-to-plaz-MO-sis). This fungus is found in the Ohio and Mississippi River Valleys. Cryptococcus (krip-to-KOK-us). This fungus is found throughout the United States in bird droppings and soil contaminated with bird droppings. Most people exposed to these fungi don't get sick, but some do and require treatment. Serious fungal infections are most common in people who have weak immune systems due to the long-term use of medicines to suppress their immune systems or having HIV/AIDS. Pneumocystis jiroveci (nu-mo-SIS-tis ye-RO-VECH-e), formerly Pneumocystis carinii, sometimes is considered a fungal pneumonia. However, it's not treated with the usual antifungal medicines. This type of infection is most common in people who: Have HIV/AIDS or cancer Have had an organ transplant and/or blood and marrow stem cell transplant Take medicines that affect their immune systems Other kinds of fungal infections also can lead to pneumonia.

### Question: How to diagnose Stroke ? ### Answer:

Your doctor will diagnose a stroke based on your signs and symptoms, your medical history, a physical exam, and test results. Your doctor will want to find out the type of stroke youve had, its cause, the part of the brain that's affected, and whether you have bleeding in the brain. If your doctor thinks youve had a transient ischemic attack (TIA), he or she will look for its cause to help prevent a future stroke. Medical History and Physical Exam Your doctor will ask you or a family member about your risk factors for stroke. Examples of risk factors include high blood pressure, smoking, heart disease, and a personal or family history of stroke. Your doctor also will ask about your signs and symptoms and when they began. During the physical exam, your doctor will check your mental alertness and your coordination and balance. He or she will check for numbness or weakness in your face, arms, and legs; confusion; and trouble speaking and seeing clearly. Your doctor will look for signs of carotid artery disease, a common cause of ischemic stroke. He or she will listen to your carotid arteries with a stethoscope. A whooshing sound called a bruit (broo-E) may suggest changed or reduced blood flow due to plaque buildup in the carotid arteries. Diagnostic Tests and Procedures Your doctor may recommend one or more of the following tests to diagnose a stroke or TIA. Brain Computed Tomography A brain computed tomography (to-MOG-rah-fee) scan, or brain CT scan, is a painless test that uses x rays to take clear, detailed pictures of your brain. This test often is done right after a stroke is suspected. A brain CT scan can show bleeding in the brain or damage to the brain cells from a stroke. The test also can show other brain conditions that may be causing your symptoms. Magnetic Resonance Imaging Magnetic resonance imaging (MRI) uses magnets and radio waves to create pictures of the organs and structures in your body. This test can detect changes in brain tissue and damage to brain cells from a stroke. An MRI may be used instead of, or in addition to, a CT scan to diagnose a stroke. Computed Tomography Arteriogram and Magnetic Resonance Arteriogram A CT arteriogram (CTA) and magnetic resonance arteriogram (MRA) can show the large blood vessels in the brain. These tests may give your doctor more information about the site of a blood clot and the flow of blood through your brain. Carotid Ultrasound Carotid ultrasound is a painless and harmless test that uses sound waves to create pictures of the insides of your carotid arteries. These arteries supply oxygen-rich blood to your brain. Carotid ultrasound shows whether plaque has narrowed or blocked your carotid arteries. Your carotid ultrasound test may include a Doppler ultrasound. Doppler ultrasound is a special test that shows the speed and direction of blood moving through your blood vessels. Carotid Angiography Carotid angiography (an-jee-OG-ra-fee) is a test that uses dye and special x rays to show the insides of your carotid arteries. For this test, a small tube called a catheter is put into an artery, usually in the groin (upper thigh). The tube is then moved up into one of your carotid arteries. Your doctor will inject a substance (called contrast dye) into the carotid artery. The dye helps make the artery visible on x-ray pictures. Heart Tests EKG (Electrocardiogram) An EKG is a simple, painless test that records the heart's electrical activity. The test shows how fast the heart is beating and its rhythm (steady or irregular). An EKG also records the strength and timing of electrical signals as they pass through each part of the heart. An EKG can help detect heart problems that may have led to a stroke. For example, the test can help diagnose atrial fibrillation or a previous heart attack. Echocardiography Echocardiography (EK-o-kar-de-OG-ra-fee), or echo, is a painless test that uses sound waves to create pictures of your heart. The test gives information about the size and shape of your heart and how well your heart's chambers and valves are working. Echo can detect possible blood clots inside the heart and problems with the aorta. The aorta is the main artery that carries oxygen-rich blood from your heart to all parts of your body. Blood Tests Your doctor also may use blood tests to help diagnose a stroke. A blood glucose test measures the amount of glucose (sugar) in your blood. Low blood glucose levels may cause symptoms similar to those of a stroke. A platelet count measures the number of platelets in your blood. Blood platelets are cell fragments that help your blood clot. Abnormal platelet levels may be a sign of a bleeding disorder (not enough clotting) or a thrombotic disorder (too much clotting). Your doctor also may recommend blood tests to measure how long it takes for your blood to clot. Two tests that may be used are called PT and PTT tests. These tests show whether your blood is clotting normally.

### Question: What are the treatments for Peripheral Artery Disease ? ### Answer:

Treatments for peripheral artery disease (P.A.D.) include lifestyle changes, medicines, and surgery or procedures. The overall goals of treating P.A.D. include reducing risk of heart attack and stroke; reducing symptoms of claudication; improving mobility and overall quality of life; and preventing complications. Treatment is based on your signs and symptoms, risk factors, and the results of physical exams and tests. Treatment may slow or stop the progression of the disease and reduce the risk of complications. Without treatment, P.A.D. may progress, resulting in serious tissue damage in the form of sores or gangrene (tissue death) due to inadequate blood flow. In extreme cases of P.A.D., also referred to as critical limb ischemia (CLI), removal (amputation) of part of the leg or foot may be necessary. Lifestyle Changes Treatment often includes making long-lasting lifestyle changes, such as: Physical activity Quitting smoking Heart-healthy eating Physical Activity Routine physical activity can improve P.A.D. symptoms and lower many risk factors for atherosclerosis, including LDL (bad) cholesterol, high blood pressure, and excess weight. Exercise can improve the distances you can comfortably walk. Talk with your doctor about taking part in a supervised exercise program. If a supervised program is not an option, ask your doctor to help you develop an exercise plan. Most exercise programs begin slowly, which includes simple walking alternating with rest. Over time, most people build up the amount of time they can walk before developing pain. The more active you are, the more you will benefit. Quitting Smoking If you smoke, quit. Smoking raises your risk for P.A.D. Smoking also raises your risk for other diseases, such as coronary heart disease and heart attack, and worsens other coronary heart disease risk factors. Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhandsmoke. If you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking. Read more about quitting smoking at Smoking and Your Heart. Heart-Healthy Eating Your doctor may recommend heart-healthy eating to treat atherosclerosis, the most common cause of P.A.D. Following heart-healthy eating can help control blood pressure and cholesterol levels, which can lead to atherosclerosis. Medicines Your doctor may prescribe medicines to: Prevent blood clots from forming due to low blood flow with anticlotting medicines, such as aspirin. Treat unhealthy cholesterol levels with statins. Statins control or lower blood cholesterol. By lowering your blood cholesterol level, you can decrease your chance of developing complications from P.A.D. Treat high blood pressure with one of many high blood pressure medicines. Help ease leg pain that occurs when you walk or climb stairs. Reduce the symptoms of intermittent claudication, measured by increased walking distance with certain platelet-aggregation inhibitors. Surgery or Procedures Bypass Grafting Your doctor may recommend bypass grafting surgery if blood flow in your limb is blocked or nearly blocked. For this surgery, your doctor uses a blood vessel from another part of your body or a synthetic tube to make a graft. This graft bypasses (that is, goes around) the blocked part of the artery. The bypass allows blood to flow around the blockage. This surgery doesnt cure P.A.D., but it may increase blood flow to the affected limb. Angioplasty and Stent Placement Your doctor may recommend angioplasty to restore blood flow through a narrowed or blockedartery. During this procedure, a catheter (thin tube) with a balloon at the tip is inserted into a blocked artery. The balloon is then inflated, which pushes plaque outward against the artery wall. This widens the artery and restores blood flow. A stent (a small mesh tube) may be placed in the artery during angioplasty. A stent helps keep the artery open after angioplasty is done. Some stents are coated with medicine to help prevent blockages in the artery. Atherectomy Atherectomy is a procedure that removes plaque buildup from an artery. During the procedure, a catheter is used to insert a small cutting device into the blocked artery. The device is used to shave or cut off plaque. The bits of plaque are removed from the body through the catheter or washed away in the bloodstream (if theyre small enough). Doctors also can perform atherectomy using a special laser that dissolves the blockage. Other Types of Treatment Researchers are studying cell and gene therapies to treat P.A.D. However, these treatments arent yet available outside of clinical trials. Read more about clinicaltrials.

### Question: What are the treatments for Idiopathic Pulmonary Fibrosis ? ### Answer:

Doctors may prescribe medicines, oxygen therapy, pulmonary rehabilitation (PR), and lung transplant to treat idiopathic pulmonary fibrosis (IPF). Medicines Currently, no medicines are proven to slow the progression of IPF. Prednisone, azathioprine (A-zah-THI-o-preen), and N-acetylcysteine (a-SEH-til-SIS-tee-in) have been used to treat IPF, either alone or in combination. However, experts have not found enough evidence to support their use. Prednisone Prednisone is an anti-inflammatory medicine. You usually take it by mouth every day. However, your doctor may give it to you through a needle or tube inserted into a vein in your arm for several days. After that, you usually take it by mouth. Because prednisone can cause serious side effects, your doctor may prescribe it for 3 to 6 months or less at first. Then, if it works for you, your doctor may reduce the dose over time and keep you on it longer. Azathioprine Azathioprine suppresses your immune system. You usually take it by mouth every day. Because it can cause serious side effects, your doctor may prescribe it with prednisone for only 3 to 6 months. If you don't have serious side effects and the medicines seem to help you, your doctor may keep you on them longer. N-acetylcysteine N-acetylcysteine is an antioxidant that may help prevent lung damage. You usually take it by mouth several times a day. A common treatment for IPF is a combination of prednisone, azathioprine, and N-acetylcysteine. However, this treatment was recently found harmful in a study funded by the National Heart, Lung, and Blood Institute (NHLBI). If you have IPF and take this combination of medicines, talk with your doctor. Do not stop taking the medicines on your own. The NHLBI currently supports research to compare N-acetylcysteine treatment with placebo treatment (sugar pills) in patients who have IPF. New Medicines Being Studied Researchers, like those in the Idiopathic Pulmonary Fibrosis Network, are studying new treatments for IPF. With the support and guidance of the NHLBI, these researchers continue to look for new IPF treatments and therapies. Some of these researchers are studying medicines that may reduce inflammation and prevent or reduce scarring caused by IPF. If you're interested in joining a research study, talk with your doctor. For more information about ongoing research, go to the "Clinical Trials" section of this article. Other Treatments Other treatments that may help people who have IPF include the following: Flu andpneumonia vaccines may help prevent infections and keep you healthy. Cough medicines or oral codeine may relieve coughing. Vitamin D, calcium, and a bone-building medicine may help prevent bone loss if you're taking prednisone or another corticosteroid. Anti-reflux therapy may help control gastroesophageal reflux disease (GERD). Most people who have IPF also have GERD. Oxygen Therapy If the amount of oxygen in your blood gets low, you may need oxygen therapy. Oxygen therapy can help reduce shortness of breath and allow you to be more active. Oxygen usually is given through nasal prongs or a mask. At first, you may need it only during exercise and sleep. As your disease worsens, you may need it all the time. For more information, go to the Health Topics Oxygen Therapy article. Pulmonary Rehabilitation PR is now a standard treatment for people who have chronic (ongoing) lung disease. PR is a broad program that helps improve the well-being of people who have breathing problems. The program usually involves treatment by a team of specialists in a special clinic. The goal is to teach you how to manage your condition and function at your best. PR doesn't replace medical therapy. Instead, it's used with medical therapy and may include: Exercise training Nutritional counseling Education on your lung disease or condition and how to manage it Energy-conserving techniques Breathing strategies Psychological counseling and/or group support For more information, go to the Health Topics Pulmonary Rehabilitation article. Lung Transplant Your doctor may recommend a lung transplant if your condition is quickly worsening or very severe. A lung transplant can improve your quality of life and help you live longer. Some medical centers will consider patients older than 65 for lung transplants if they have no other serious medical problems. The major complications of a lung transplant are rejection and infection. ("Rejection" refers to your body creating proteins that attack the new organ.) You will have to take medicines for the rest of your life to reduce the risk of rejection. Because the supply of donor lungs is limited, talk with your doctor about a lung transplant as soon as possible. For more information, go to the Health Topics Lung Transplant article.

### Question: What are the treatments for Insomnia ? ### Answer:

Lifestyle changes often can help relieve acute (short-term) insomnia. These changes might make it easier to fall asleep and stay asleep. A type of counseling called cognitive-behavioral therapy (CBT) can help relieve the anxiety linked to chronic (ongoing) insomnia. Anxiety tends to prolong insomnia. Several medicines also can help relieve insomnia and re-establish a regular sleep schedule. However, if your insomnia is the symptom or side effect of another problem, it's important to treat the underlying cause (if possible). Lifestyle Changes If you have insomnia, avoid substances that make it worse, such as: Caffeine, tobacco, and other stimulants. The effects of these substances can last as long as 8 hours. Certain over-the-counter and prescription medicines that can disrupt sleep (for example, some cold and allergy medicines). Talk with your doctor about which medicines won't disrupt your sleep. Alcohol. An alcoholic drink before bedtime might make it easier for you to fall asleep. However, alcohol triggers sleep that tends to be lighter than normal. This makes it more likely that you will wake up during the night. Try to adopt bedtime habits that make it easier to fall asleep and stay asleep. Follow a routine that helps you wind down and relax before bed. For example, read a book, listen to soothing music, or take a hot bath. Try to schedule your daily exercise at least 5 to 6 hours before going to bed. Don't eat heavy meals or drink a lot before bedtime. Make your bedroom sleep-friendly. Avoid bright lighting while winding down. Try to limit possible distractions, such as a TV, computer, or pet. Make sure the temperature of your bedroom is cool and comfortable. Your bedroom also should be dark and quiet. Go to sleep around the same time each night and wake up around the same time each morning, even on weekends. If you can, avoid night shifts, alternating schedules, or other things that may disrupt your sleep schedule. Cognitive-Behavioral Therapy CBT for insomnia targets the thoughts and actions that can disrupt sleep. This therapy encourages good sleep habits and uses several methods to relieve sleep anxiety. For example, relaxation techniques and biofeedback are used to reduce anxiety. These strategies help you better control your breathing, heart rate, muscles, and mood. CBT also aims to replace sleep anxiety with more positive thinking that links being in bed with being asleep. This method also teaches you what to do if you're unable to fall asleep within a reasonable time. CBT also may involve talking with a therapist one-on-one or in group sessions to help you consider your thoughts and feelings about sleep. This method may encourage you to describe thoughts racing through your mind in terms of how they look, feel, and sound. The goal is for your mind to settle down and stop racing. CBT also focuses on limiting the time you spend in bed while awake. This method involves setting a sleep schedule. At first, you will limit your total time in bed to the typical short length of time you're usually asleep. This schedule might make you even more tired because some of the allotted time in bed will be taken up by problems falling asleep. However, the resulting tiredness is intended to help you get to sleep more quickly. Over time, the length of time spent in bed is increased until you get a full night of sleep. For success with CBT, you may need to see a therapist who is skilled in this approach weekly over 2 to 3 months. CBT works as well as prescription medicine for many people who have chronic insomnia. It also may provide better long-term relief than medicine alone. For people who have insomnia and major depressive disorder, CBT combined with antidepression medicines has shown promise in relieving both conditions. Medicines Prescription Medicines Many prescription medicines are used to treat insomnia. Some are meant for short-term use, while others are meant for longer use. Talk to your doctor about the benefits and side effects of insomnia medicines. For example, insomnia medicines can help you fall asleep, but you may feel groggy in the morning after taking them. Rare side effects of these medicines include sleep eating, sleep walking, or driving while asleep. If you have side effects from an insomnia medicine, or if it doesn't work well, tell your doctor. He or she might prescribe a different medicine. Some insomnia medicines can be habit forming. Ask your doctor about the benefits and risks of insomnia medicines. Over-the-Counter Products Some over-the-counter (OTC) products claim to treat insomnia. These products include melatonin, L-tryptophan supplements, and valerian teas or extracts. The Food and Drug Administration doesn't regulate natural products and some food supplements. Thus, the dose and purity of these substances can vary. How well these products work and how safe they are isn't well understood. Some OTC products that contain antihistamines are sold as sleep aids. Although these products might make you sleepy, talk to your doctor before taking them. Antihistamines pose risks for some people. Also, these products may not offer the best treatment for your insomnia. Your doctor can advise you whether these products will benefit you.

### Question: How to diagnose Heart Disease in Women ? ### Answer:

Your doctor will diagnosecoronary heart disease(CHD) based on your medical and family histories, your risk factors, a physical exam, and the results from tests and procedures. No single test can diagnose CHD. If your doctor thinks you have CHD, he or she may recommend one or more of the following tests. EKG (Electrocardiogram) An EKGis a simple, painless test that detects and records the heart's electrical activity. The test shows how fast the heart is beating and its rhythm (steady or irregular). An EKG also records the strength and timing of electrical signals as they pass through the heart. An EKG can show signs of heart damage due to CHD and signs of a previous or current heart attack. Stress Testing Duringstress testing,you exercise to make your heart work hard and beat fast while heart tests are done. If you can't exercise, you may be given medicines to increase your heart rate. When your heart is working hard and beating fast, it needs more blood and oxygen. Plaque-narrowed coronary (heart) arteries can't supply enough oxygen-rich blood to meet your heart's needs. A stress test can show possible signs and symptoms of CHD, such as: Abnormal changes in your heart rate or blood pressure Shortness of breath or chest pain Abnormal changes in your heart rhythm or your heart's electrical activity If you can't exercise for as long as what is considered normal for someone your age, your heart may not be getting enough oxygen-rich blood. However, other factors also can prevent you from exercising long enough (for example, lung diseases,anemia, or poor general fitness). As part of some stress tests, pictures are taken of your heart while you exercise and while you rest. These imaging stress tests can show how well blood is flowing in your heart and how well your heart pumps blood when it beats. Echocardiography Echocardiography (echo) uses sound waves to create a moving picture of your heart. The test provides information about the size and shape of your heart and how well your heart chambers and valves are working. Echo also can show areas of poor blood flow to the heart, areas of heart muscle that aren't contracting normally, and previous injury to the heart muscle caused by poor blood flow. Chest X Ray Achest x raycreates pictures of the organs and structures inside your chest, such as your heart, lungs, and blood vessels. A chest x ray can reveal signs ofheart failure, as well as lung disorders and other causes of symptoms not related to CHD. Blood Tests Blood tests check the levels of certain fats, cholesterol, sugar, and proteins in your blood. Abnormal levels may be a sign that you're at risk for CHD. Blood tests also help detectanemia,a risk factor for CHD. During a heart attack, heart muscle cells die and release proteins into the bloodstream. Blood tests can measure the amount of these proteins in the bloodstream. High levels of these proteins are a sign of a recent heart attack. Coronary Angiography and Cardiac Catheterization Your doctor may recommendcoronary angiography(an-jee-OG-rah-fee) if other tests or factors suggest you have CHD. This test uses dye and special x rays to look inside your coronary arteries. To get the dye into your coronary arteries, your doctor will use a procedure calledcardiac catheterization(KATH-eh-ter-ih-ZA-shun). A thin, flexible tube called a catheter is put into a blood vessel in your arm, groin (upper thigh), or neck. The tube is threaded into your coronary arteries, and the dye is released into your bloodstream. Special x rays are taken while the dye is flowing through your coronary arteries. The dye lets your doctor study the flow of blood through your heart and blood vessels. Coronary angiography detects blockages in the large coronary arteries. However, the test doesn't detectcoronary microvascular disease(MVD). This is because coronary MVD doesn't cause blockages in the large coronary arteries. Even if the results of your coronary angiography are normal, you may still have chest pain or other CHD symptoms. If so, talk with your doctor about whether you might have coronary MVD. Your doctor may ask you to fill out a questionnaire called the Duke Activity Status Index. This questionnaire measures how easily you can do routine tasks. It gives your doctor information about how well blood is flowing through your coronary arteries. Your doctor also may recommend other tests that measure blood flow in the heart, such as acardiac MRI (magnetic resonance imaging) stress test. Cardiac MRI uses radio waves, magnets, and a computer to create pictures of your heart as it beats. The test produces both still and moving pictures of your heart and major blood vessels. Other tests done during cardiac catheterization can check blood flow in the heart's small arteries and the thickness of the artery walls. Tests Used To Diagnose Broken Heart Syndrome If your doctor thinks you have broken heart syndrome, he or she may recommend coronary angiography. Other tests are also used to diagnose this disorder, including blood tests, EKG, echo, and cardiac MRI.

### Question: What causes Heart Murmur ? ### Answer:

Innocent Heart Murmurs Why some people have innocent heart murmurs and others do not isn't known. Innocent murmurs are simply sounds made by blood flowing through the heart's chambers and valves, or through blood vessels near the heart. Extra blood flow through the heart also may cause innocent heart murmurs. After childhood, the most common cause of extra blood flow through the heart is pregnancy. This is because during pregnancy, women's bodies make extra blood. Most heart murmurs that occur in pregnant women are innocent. Abnormal Heart Murmurs Congenital heart defects or acquired heart valve disease often are the cause of abnormal heart murmurs. Congenital Heart Defects Congenital heart defects are the most common cause of abnormal heart murmurs in children. These defects are problems with the heart's structure that are present at birth. They change the normal flow of blood through the heart. Congenital heart defects can involve the interior walls of the heart, the valves inside the heart, or the arteries and veins that carry blood to and from the heart. Some babies are born with more than one heart defect. Heart valve problems, septal defects (also called holes in the heart), and diseases of the heart muscle such as hypertrophic cardiomyopathy are common heart defects that cause abnormal heart murmurs. Examples of valve problems are narrow valves that limit blood flow or leaky valves that don't close properly. Septal defects are holes in the wall that separates the right and left sides of the heart. This wall is called the septum. A hole in the septum between the heart's two upper chambers is called an atrial septal defect. A hole in the septum between the heart's two lower chambers is called a ventricular septal defect. Hypertrophic (hi-per-TROF-ik) cardiomyopathy (kar-de-o-mi-OP-ah-thee) (HCM) occurs if heart muscle cells enlarge and cause the walls of the ventricles (usually the left ventricle) to thicken. The thickening may block blood flow out of the ventricle. If a blockage occurs, the ventricle must work hard to pump blood to the body. HCM also can affect the hearts mitral valve, causing blood to leak backward through the valve. Heart Defects That Can Cause Abnormal Heart Murmurs For more information, go to the Health Topics Congenital Heart Defects article. Acquired Heart Valve Disease Acquired heart valve disease often is the cause of abnormal heart murmurs in adults. This is heart valve disease that develops as the result of another condition. Many conditions can cause heart valve disease. Examples include heart conditions and other disorders, age-related changes, rheumatic (ru-MAT-ik) fever, and infections. Heart conditions and other disorders. Certain conditions can stretch and distort the heart valves, such as: Damage and scar tissue from a heart attack or injury to the heart. Advanced high blood pressure and heart failure. These conditions can enlarge the heart or its main arteries. Age-related changes. As you get older, calcium deposits or other deposits may form on your heart valves. These deposits stiffen and thicken the valve flaps and limit blood flow. This stiffening and thickening of the valve is called sclerosis (skle-RO-sis). Rheumatic fever. The bacteria that cause strep throat, scarlet fever, and, in some cases, impetigo (im-peh-TI-go) also can cause rheumatic fever. This serious illness can develop if you have an untreated or not fully treated streptococcal (strep) infection. Rheumatic fever can damage and scar the heart valves. The symptoms of this heart valve damage often don't occur until many years after recovery from rheumatic fever. Today, most people who have strep infections are treated with antibiotics before rheumatic fever develops. It's very important to take all of the antibiotics your doctor prescribes for strep throat, even if you feel better before the medicine is gone. Infections. Common germs that enter the bloodstream and get carried to the heart can sometimes infect the inner surface of the heart, including the heart valves. This rare but sometimes life-threatening infection is called infective endocarditis (EN-do-kar-DI-tis), or IE. IE is more likely to develop in people who already have abnormal blood flow through a heart valve because of heart valve disease. The abnormal blood flow causes blood clots to form on the surface of the valve. The blood clots make it easier for germs to attach to and infect the valve. IE can worsen existing heart valve disease. Other Causes Some heart murmurs occur because of an illness outside of the heart. The heart is normal, but an illness or condition can cause blood flow that's faster than normal. Examples of this type of illness include fever, anemia (uh-NEE-me-eh), and hyperthyroidism. Anemia is a condition in which the body has a lower than normal number of red blood cells. Hyperthyroidism is a condition in which the body has too much thyroid hormone.

### Question: What are the symptoms of Multiple pterygium syndrome Escobar type ? ### Answer:

What are the signs and symptoms of Multiple pterygium syndrome Escobar type? Symptoms of multiple pterygium syndrome, Escobar type vary but may include short stature, vertebral (spine) defects, joint contractures, and webbing of the neck, armpit, elbow, knee, between the legs, and of the fingers and toes. The joint contractures may interfere with walking, making walking more difficult. Other symptoms may include down-slanting eyes, skin fold over the inner corner of the eye, a pointed, receding chin, droopy eye lids, and cleft palate. Males with Escobar syndrome may have undescended testicles at birth, and females may have absent labia majora. People with Escobar syndrome may have in-curving of the little finger, joined fingers, and rocker-bottom feet. They may also have kyphoscoliosis and other spine defects, such as fusion of the spine. Abnormal ossicles (the three small bones in the ear) may lead to conductive hearing loss. Other skeletal anomalies include rib fusions, radial head and hip dislocations, talipes calcaneovalgus (the foot points inwards and down) or club foot, and missing or underdeveloped kneecap. The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple pterygium syndrome Escobar type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Amniotic constriction ring 90% Finger syndactyly 90% Limitation of joint mobility 90% Pectus excavatum 90% Scoliosis 90% Symphalangism affecting the phalanges of the hand 90% Webbed neck 90% Abnormality of the foot 50% Aplasia/Hypoplasia of the abdominal wall musculature 50% Aplasia/Hypoplasia of the skin 50% Camptodactyly of finger 50% Epicanthus 50% Facial asymmetry 50% Hypertelorism 50% Intrauterine growth retardation 50% Long face 50% Low-set, posteriorly rotated ears 50% Microcephaly 50% Pointed chin 50% Popliteal pterygium 50% Ptosis 50% Respiratory insufficiency 50% Short stature 50% Telecanthus 50% Umbilical hernia 50% Vertebral segmentation defect 50% Abnormality of female external genitalia 7.5% Abnormality of the abdominal organs 7.5% Abnormality of the aortic valve 7.5% Abnormality of the ribs 7.5% Aortic dilatation 7.5% Aplasia/Hypoplasia of the lungs 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Conductive hearing impairment 7.5% Cryptorchidism 7.5% Dolichocephaly 7.5% Gait disturbance 7.5% Hypoplasia of penis 7.5% Long philtrum 7.5% Low posterior hairline 7.5% Scrotal hypoplasia 7.5% Skeletal muscle atrophy 7.5% Spina bifida occulta 7.5% Strabismus 7.5% Abnormality of the neck - Absence of labia majora - Antecubital pterygium - Anterior clefting of vertebral bodies - Arachnodactyly - Autosomal recessive inheritance - Axillary pterygia - Bilateral camptodactyly - Camptodactyly of toe - Congenital diaphragmatic hernia - Decreased fetal movement - Diaphragmatic eventration - Dislocated radial head - Downturned corners of mouth - Dysplastic patella - Exostosis of the external auditory canal - Fused cervical vertebrae - High palate - Hip dislocation - Hypoplastic nipples - Hypospadias - Inguinal hernia - Intercrural pterygium - Kyphosis - Long clavicles - Low-set ears - Narrow mouth - Neck pterygia - Neonatal respiratory distress - Patellar aplasia - Pulmonary hypoplasia - Rib fusion - Rocker bottom foot - Syndactyly - Talipes calcaneovalgus - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

### Question: What are the treatments for Short Bowel Syndrome ? ### Answer:

A health care provider will recommend treatment for short bowel syndrome based on a patient's nutritional needs. Treatment may include - nutritional support - medications - surgery - intestinal transplant Nutritional Support The main treatment for short bowel syndrome is nutritional support, which may include the following: - Oral rehydration. Adults should drink water, sports drinks, sodas without caffeine, and salty broths. Children should drink oral rehydration solutionsspecial drinks that contain salts and minerals to prevent dehydrationsuch as Pedialyte, Naturalyte, Infalyte, and CeraLyte, which are sold in most grocery stores and drugstores. - Parenteral nutrition. This treatment delivers fluids, electrolytes, and liquid vitamins and minerals into the bloodstream through an intravenous (IV) tubea tube placed into a vein. Health care providers give parenteral nutrition to people who cannot or should not get their nutrition or enough fluids through eating. - Enteral nutrition. This treatment delivers liquid food to the stomach or small intestine through a feeding tubea small, soft, plastic tube placed through the nose or mouth into the stomach. Gallstonessmall, pebblelike substances that develop in the gallbladderare a complication of enteral nutrition. More information is provided in the NIDDK health topic, Gallstones. - Vitamin and mineral supplements. A person may need to take vitamin and mineral supplements during or after parenteral or enteral nutrition. - Special diet. A health care provider can recommend a specific diet plan for the patient that may include - small, frequent feedings - avoiding foods that can cause diarrhea, such as foods high in sugar, protein, and fiber - avoiding high-fat foods Medications A health care provider may prescribe medications to treat short bowel syndrome, including - antibiotics to prevent bacterial overgrowth - H2 blockers to treat too much gastric acid secretion - proton pump inhibitors to treat too much gastric acid secretion - choleretic agents to improve bile flow and prevent liver disease - bile-salt binders to decrease diarrhea - anti-secretin agents to reduce gastric acid in the intestine - hypomotility agents to increase the time it takes food to travel through the intestines, leading to increased nutrient absorption - growth hormones to improve intestinal absorption - teduglutide to improve intestinal absorption Surgery The goal of surgery is to increase the small intestine's ability to absorb nutrients. Approximately half of the patients with short bowel syndrome need surgery.2 Surgery used to treat short bowel syndrome includes procedures that - prevent blockage and preserve the length of the small intestine - narrow any dilated segment of the small intestine - slow the time it takes for food to travel through the small intestine - lengthen the small intestine Long-term treatment and recovery, which for some may take years, depend in part on - what sections of the small intestine were removed - how much of the intestine is damaged - how well the muscles of the intestine work - how well the remaining small intestine adapts over time Intestinal Transplant An intestinal transplant is surgery to remove a diseased or an injured small intestine and replace it with a healthy small intestine from a person who has just died, called a donor. Sometimes a living donor can provide a segment of his or her small intestine. Transplant surgeonsdoctors who specialize in performing transplant surgeryperform the surgery on patients for whom other treatments have failed and who have lifethreatening complications from long-term parenteral nutrition. An intestinal-transplant team performs the surgery in a hospital. The patient will need anesthesia. Complications of intestinal transplantation include infections and rejection of the transplanted organ. A successful intestinal transplant can be a life-saving treatment for people with intestinal failure caused by short bowel syndrome. By 2008, transplant surgeons had performed almost 2,000 intestinal transplantations in the United Statesapproximately 75 percent of which were in patients younger than 18 years of age.3 A health care provider will tailor treatment to the severity of the patient's disease: - Treatment for mild short bowel syndrome involves eating small, frequent meals; drinking fluid; taking nutritional supplements; and using medications to treat diarrhea. - Treatment for moderate short bowel syndrome is similar to that for mild short bowel syndrome, with the addition of parenteral nutrition as needed. - Treatment for severe short bowel syndrome involves use of parenteral nutrition and oral rehydration solutions. Patients may receive enteral nutrition or continue normal eating, even though most of the nutrients are not absorbed. Both enteral nutrition and normal eating stimulate the remaining intestine to work better and may allow patients to discontinue parenteral nutrition. Some patients with severe short bowel syndrome require parenteral nutrition indefinitely or surgery.

### Question: what research (or clinical trials) is being done for Alzheimer's Disease ? ### Answer:

Research supported by the National Institutes of Health (NIH) and other organizations has expanded knowledge of brain function in healthy older people, identified ways that may lessen age-related cognitive decline, and deepened our understanding of Alzheimers. Many scientists and physicians are working together to untangle the genetic, biological, and environmental factors that might cause Alzheimers disease. This effort is bringing us closer to better managing and, ultimately, better treating and preventing this devastating disease. Types of Research Different types of researchbasic, translational, and clinical researchare conducted to better understand Alzheimers and find ways to treat, delay, or prevent the disease. - Basic research helps scientists gain new knowledge about a disease process, including how and why it starts and progresses. - Translational research grows out of basic research. It creates new medicines, devices, or behavioral interventions aimed at preventing, diagnosing, or treating a disease. - Clinical research is medical research involving people. It includes clinical studies, which observe and gather information about large groups of people. It also includes clinical trials, which test a medicine, therapy, medical device, or other intervention in people to see if it is safe and effective. Basic research helps scientists gain new knowledge about a disease process, including how and why it starts and progresses. Translational research grows out of basic research. It creates new medicines, devices, or behavioral interventions aimed at preventing, diagnosing, or treating a disease. Clinical research is medical research involving people. It includes clinical studies, which observe and gather information about large groups of people. It also includes clinical trials, which test a medicine, therapy, medical device, or other intervention in people to see if it is safe and effective. See the latest Alzheimers Disease Progress Report to read about results of NIA-supported Alzheimers research. Basic Research Basic research seeks to identify the cellular, molecular, and genetic processes that lead to Alzheimers disease. Basic research has focused on two of the main signs of Alzheimers disease in the brain: plaques and tangles. Plaques are made of a protein called beta-amyloid and form abnormal clumps outside nerve cells in the brain. Tangles are made from a protein called tau and form twisted bundles of fibers within nerve cells in the brain. Scientists are studying how plaques and tangles damage nerve cells in the brain. They can see beta-amyloid plaques and tau tangles by making images of the brains of living people. Such imaging has led to clinical trials that are looking at ways to remove beta-amyloid from the human brain or halt its production before more brain damage occurs. Scientists are also exploring the very earliest brain changes in the disease process. Findings will help them better understand the causes of Alzheimers. As they learn more, they are likely to come up with better targets for further research. Over time, this might lead to more effective therapies to delay or prevent the disease. Genetics is another important area of basic research. Discovering more about the role of genes that increase or decrease the risk of developing Alzheimers will help researchers answers questions such as What makes the disease process begin? and Why do some people with memory and other thinking problems develop Alzheimers disease while others do not? Genetics research helps scientists learn how risk-factor genes interact with other genes and lifestyle or environmental factors to affect Alzheimers risk. This research also helps identify people who are at high risk for developing Alzheimers and can participate in clinical research on new prevention and treatment approaches. Translational Research Translational research allows new knowledge from basic research to be applied to a clinical research setting. An important goal of Alzheimers translational research is to increase the number and variety of potential new medicines and other interventions that are approved for testing in humans. Scientists also examine medicines approved to treat other diseases to see they might be effective in people with Alzheimers. The most promising interventions are tested in test-tube and animal studies to make sure they are safe and effective. Currently, a number of different substances are under development that may one day be used to treat or prevent the symptoms of Alzheimers disease and mild cognitive impairment. Clinical Research Clinical research is medical research involving people. It includes clinical studies, which observe and gather information about large groups of people. It also includes clinical trials, which test medicines, therapies, medical devices, or other interventions in people to see if they are safe and effective. Clinical trials are the best way to find out whether a particular intervention actually slows, delays, or prevents Alzheimers disease. Trials may compare a potential new treatment with a standard treatment or placebo (mock treatment). Or, they may study whether a certain behavior or condition affects the progress of Alzheimers or the chances of developing it. NIH, drug companies, and other research organizations are conducting many clinical trials to test possible new treatments that may - improve memory, thinking, and reasoning skills in people with Alzheimers or mild cognitive impairment - relieve the behavior problems of Alzheimers, such as aggression and agitation - delay the progression from mild cognitive impairment (MCI) to Alzheimers - prevent Alzheimers disease. improve memory, thinking, and reasoning skills in people with Alzheimers or mild cognitive impairment relieve the behavior problems of Alzheimers, such as aggression and agitation delay the progression from mild cognitive impairment (MCI) to Alzheimers prevent Alzheimers disease. A wide variety of interventions are being tested in clinical trials. They include experimental drugs as well as non-drug approaches.

### Question: How to prevent Gum (Periodontal) Disease ? ### Answer:

Risk Factors There are a number of risk factors that can increase your chances of developing periodontal disease. - Smoking is one of the most significant risk factors associated with the development of gum disease. Smoking can also lower the chances for successful treatment. - Hormonal changes in women can make gums more sensitive and make it easier for gingivitis to develop. - People with diabetes are at higher risk for developing infections, including gum disease. - Diseases like cancer or AIDS and their treatments can also negatively affect the health of gums. - There are hundreds of prescription and over-the-counter medications that can reduce the flow of saliva, which has a protective effect on the mouth. Without enough saliva, the mouth is vulnerable to infections such as gum disease. And some medicines can cause abnormal overgrowth of the gum tissue; this can make it difficult to keep teeth and gums clean. - Some people are more prone to severe gum disease because of their genetic makeup. Smoking is one of the most significant risk factors associated with the development of gum disease. Smoking can also lower the chances for successful treatment. Hormonal changes in women can make gums more sensitive and make it easier for gingivitis to develop. People with diabetes are at higher risk for developing infections, including gum disease. Diseases like cancer or AIDS and their treatments can also negatively affect the health of gums. There are hundreds of prescription and over-the-counter medications that can reduce the flow of saliva, which has a protective effect on the mouth. Without enough saliva, the mouth is vulnerable to infections such as gum disease. And some medicines can cause abnormal overgrowth of the gum tissue; this can make it difficult to keep teeth and gums clean. Some people are more prone to severe gum disease because of their genetic makeup. Prevention Here are some things you can do to prevent gum disease. - Brush your teeth twice a day (with a fluoride toothpaste). - Floss regularly to remove plaque from between teeth. Or use a device such as a special pick recommended by a dental professional. Visit the dentist routinely for a check-up and professional cleaning. - Visit the dentist routinely for a check-up and professional cleaning. - Don't smoke. - Eat a well-balanced diet. (For more information, see "Eating Well As You Get Older" at http://nihseniorhealth.gov/eatingwellasyougetolder/toc.html Brush your teeth twice a day (with a fluoride toothpaste). Floss regularly to remove plaque from between teeth. Or use a device such as a special pick recommended by a dental professional. Visit the dentist routinely for a check-up and professional cleaning. Visit the dentist routinely for a check-up and professional cleaning. Don't smoke. Eat a well-balanced diet. (For more information, see "Eating Well As You Get Older" at http://nihseniorhealth.gov/eatingwellasyougetolder/toc.html Tips for Easier At-Home Care - If your hands have become stiff because of arthritis or if you have a physical disability, you may find it difficult to use your toothbrush or dental floss. The following tips might make it easier for you to clean your teeth and gums. If your hands have become stiff because of arthritis or if you have a physical disability, you may find it difficult to use your toothbrush or dental floss. The following tips might make it easier for you to clean your teeth and gums. - Make the toothbrush easier to hold. The same kind of Velcro strap used to hold food utensils is helpful for some people. Make the toothbrush easier to hold. The same kind of Velcro strap used to hold food utensils is helpful for some people. - Another way to make the toothbrush easier to hold is to attach the brush to the hand with a wide elastic or rubber band. Another way to make the toothbrush easier to hold is to attach the brush to the hand with a wide elastic or rubber band. - Make the toothbrush handle bigger. You can cut a small slit in the side of a tennis ball and slide it onto the handle of the toothbrush. Make the toothbrush handle bigger. You can cut a small slit in the side of a tennis ball and slide it onto the handle of the toothbrush. - You can also buy a toothbrush with a large handle, or you can slide a bicycle grip onto the handle. You can also buy a toothbrush with a large handle, or you can slide a bicycle grip onto the handle. - Try other toothbrush options. A power toothbrush might make brushing easier. Try other toothbrush options. A power toothbrush might make brushing easier. - A floss holder can make it easier to hold the dental floss. - Also, talk with your dentist about whether an oral irrigation system, special small brushes, or other instruments that clean between teeth are right for you. Be sure to check with your dentist, though, before using any of these methods since they may injure the gums if used improperly. A floss holder can make it easier to hold the dental floss. Also, talk with your dentist about whether an oral irrigation system, special small brushes, or other instruments that clean between teeth are right for you. Be sure to check with your dentist, though, before using any of these methods since they may injure the gums if used improperly.

### Question: What are the symptoms of Chorea-acanthocytosis ? ### Answer:

What are the signs and symptoms of Chorea-acanthocytosis? Chorea-acanthocytosis affects movement in many parts of the body. Chorea refers to the involuntary jerking movements made by people with this disorder. People with this condition also have abnormal star-shaped red blood cells (acanthocytosis). Another common feature of chorea-acanthocytosis is involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. These muscle twitches can cause vocal tics (such as grunting), involuntary belching, and limb spasms. Eating can also be impaired as tongue and throat twitches can interfere with chewing and swallowing food. People with chorea-acanthocytosis may uncontrollably bite their tongue, lips, and inside of the mouth. Nearly half of all people with chorea-acanthocytosis have seizures. Individuals with chorea-acanthocytosis may develop difficulty processing, learning, and remembering information (cognitive impairment). They may also have reduced sensation and weakness in their arms and legs (peripheral neuropathy) and muscle weakness (myopathy). Impaired muscle and nerve functioning commonly cause speech difficulties, and can lead to an inability to speak. Behavioral changes are also a common feature of chorea-acanthocytosis and may be the first sign of this condition. These behavioral changes may include changes in personality, obsessive-compulsive disorder (OCD), lack of self-restraint, and the inability to take care of oneself. The signs and symptoms of chorea-acanthocytosis usually begin in early to mid-adulthood. The movement problems of this condition worsen with age. Loss of cells (atrophy) in certain brain regions is the major cause of the neurological problems seen in people with chorea-acanthocytosis. The Human Phenotype Ontology provides the following list of signs and symptoms for Chorea-acanthocytosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of erythrocytes 90% Incoordination 90% Muscular hypotonia 90% Neurological speech impairment 90% Pallor 90% Peripheral neuropathy 90% Abnormality of coagulation 50% Abnormality of the oral cavity 50% Abnormality of urine homeostasis 50% Attention deficit hyperactivity disorder 50% Cerebral cortical atrophy 50% Chorea 50% Developmental regression 50% EMG abnormality 50% Gait disturbance 50% Memory impairment 50% Myopathy 50% Seizures 50% Skeletal muscle atrophy 50% Tremor 50% Ventriculomegaly 50% Abdominal pain 7.5% Abnormality of the thyroid gland 7.5% Acute hepatic failure 7.5% Ascites 7.5% Cataract 7.5% Dementia 7.5% Elevated hepatic transaminases 7.5% Hepatomegaly 7.5% Hypertrophic cardiomyopathy 7.5% Lymphadenopathy 7.5% Malabsorption 7.5% Nausea and vomiting 7.5% Nystagmus 7.5% Recurrent respiratory infections 7.5% Self-injurious behavior 7.5% Short stature 7.5% Sleep disturbance 7.5% Splenomegaly 7.5% Vasculitis 7.5% Weight loss 7.5% Acanthocytosis - Aggressive behavior - Anxiety - Areflexia - Autosomal recessive inheritance - Caudate atrophy - Disinhibition - Drooling - Dysarthria - Dysphagia - Dystonia - Elevated serum creatine phosphokinase - Hyporeflexia - Limb muscle weakness - Mood changes - Orofacial dyskinesia - Parkinsonism - Personality changes - Pes cavus - Progressive - Progressive choreoathetosis - Psychosis - Self-mutilation of tongue and lips due to involuntary movements - Sensory neuropathy - Tics - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

### Question: How to diagnose Peripheral Artery Disease ? ### Answer:

Peripheral artery disease (P.A.D.) is diagnosed based on your medical and family histories, a physical exam, and test results. P.A.D. often is diagnosed after symptoms are reported. A correct diagnosis is important because people who have P.A.D. are at higher risk for coronary heart disease (CHD), heart attack, stroke, and transient ischemic attack ("mini-stroke"). If you have P.A.D., your doctor also may want to check for signs of these diseases and conditions. Specialists Involved Primary care doctors, such as internists and family doctors, may treat people who have mild P.A.D. For more advanced P.A.D., a vascular specialist may be involved. This is a doctor who specializes in treating blood vessel diseases and conditions. A cardiologist also may be involved in treating people who have P.A.D. Cardiologists treat heart problems, such as CHD and heart attack, which often affect people who have P.A.D. Medical and Family Histories Your doctor may ask: Whether you have any risk factors for P.A.D. For example, he or she may ask whether you smoke or have diabetes. About your symptoms, including any symptoms that occur when walking, exercising, sitting, standing, or climbing. About your diet. About any medicines you take, including prescription and over-the-counter medicines. Whether anyone in your family has a history of heart or blood vessel diseases. Physical Exam During the physical exam, your doctor will look for signs of P.A.D. He or she may check the blood flow in your legs or feet to see whether you have weak or absent pulses. Your doctor also may check the pulses in your leg arteries for an abnormal whooshing sound called a bruit. He or she can hear this sound with a stethoscope. A bruit may be a warning sign of a narrowed or blocked artery. Your doctor may compare blood pressure between your limbs to see whether the pressure is lower in the affected limb. He or she also may check for poor wound healing or any changes in your hair, skin, or nails that may be signs of P.A.D. Diagnostic Tests Ankle-Brachial Index A simple test called an ankle-brachial index (ABI) often is used to diagnose P.A.D. The ABI compares blood pressure in your ankle to blood pressure in your arm. This test shows how well blood is flowing in your limbs. ABI can show whether P.A.D. is affecting your limbs, but it won't show which blood vessels are narrowed or blocked. A normal ABI result is 1.0 or greater (with a range of 0.90 to 1.30). The test takes about 10 to 15 minutes to measure both arms and both ankles. This test may be done yearly to see whether P.A.D. is getting worse. Ankle-Brachial Index Doppler Ultrasound A Doppler ultrasound looks at blood flow in the major arteries and veins in the limbs. During this test, a handheld device is placed on your body and passed back and forth over the affected area. A computer converts sound waves into a picture of blood flow in the arteries and veins. The results of this test can show whether a blood vessel is blocked. The results also can help show the severity of P.A.D. Treadmill Test A treadmill test can show the severity of symptoms and the level of exercise that brings them on. You'll walk on a treadmill for this test. This shows whether you have any problems during normal walking. You may have an ABI test before and after the treadmill test. This will help compare blood flow in your arms and legs before and after exercise. Magnetic Resonance Angiogram A magnetic resonance angiogram (MRA) uses magnetic and radio wave energy to take pictures of your blood vessels. This test is a type of magnetic resonance imaging (MRI). An MRA can show the location and severity of a blocked blood vessel. If you have a pacemaker, man-made joint, stent, surgical clips, mechanical heart valve, or other metallic devices in your body, you might not be able to have an MRA. Ask your doctor whether an MRA is an option for you. Arteriogram An arteriogram provides a "road map" of the arteries. Doctors use this test to find the exact location of a blocked artery. For this test, dye is injected through a needle or catheter (tube) into one of your arteries. This may make you feel mildly flushed. After the dye is injected, an x ray is taken. The xray can show the location, type, and extent of the blockage in the artery. Some doctors use a newer method of arteriogram that uses tiny ultrasound cameras. These cameras take pictures of the insides of the blood vessels. This method is called intravascular ultrasound. Blood Tests Your doctor may recommend blood tests to check for P.A.D. risk factors. For example, blood tests can help diagnose conditions such as diabetes and high blood cholesterol.

### Question: What are the symptoms of Apert syndrome ? ### Answer:

What are the signs and symptoms of Apert syndrome? Apert syndrome is characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face, effectively resulting in a cone or tower shaped skull. In addition, a varied number of fingers and toes are fused together (syndactyly). Many of the characteristic facial features of Apert syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a sunken appearance in the middle of the face, bulging and wide-set eyes, a beaked nose, and an underdeveloped upper jaw leading to crowded teeth and other dental problems. Shallow eye sockets can cause vision problems. Early fusion of the skull bones also affects the development of the brain, which can disrupt intellectual development. Cognitive abilities in people with Apert syndrome range from normal to mild or moderate intellectual disability. Individuals with Apert syndrome have webbed or fused fingers and toes (syndactyly). The severity of the fusion varies. Less commonly, people with this condition have extra fingers or toes (polydactyly). Additional signs and symptoms of Apert syndrome may include hearing loss, unusually heavy sweating (hyperhidrosis), oily skin with severe acne, patches of missing hair in the eyebrows, fusion of spinal bones in the neck (cervical vertebrae), and recurrent ear infections that may be associated with an opening in the roof of the mouth (a cleft palate). The Human Phenotype Ontology provides the following list of signs and symptoms for Apert syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Conductive hearing impairment 90% Depressed nasal bridge 90% Frontal bossing 90% Malar flattening 90% Proptosis 90% Toe syndactyly 90% Abnormality of the fontanelles or cranial sutures 50% Aplasia/Hypoplasia of the corpus callosum 50% Aplasia/Hypoplasia of the thumb 50% Cognitive impairment 50% Convex nasal ridge 50% Delayed eruption of teeth 50% Facial asymmetry 50% Hypertelorism 50% Hypertension 50% Mandibular prognathia 50% Strabismus 50% Vertebral segmentation defect 50% Arnold-Chiari malformation 7.5% Choanal atresia 7.5% Cleft palate 7.5% Cloverleaf skull 7.5% Corneal erosion 7.5% Ectopic anus 7.5% Hydrocephalus 7.5% Limb undergrowth 7.5% Optic atrophy 7.5% Ovarian neoplasm 7.5% Respiratory insufficiency 7.5% Sensorineural hearing impairment 7.5% Ventriculomegaly 7.5% Visual impairment 7.5% Postaxial hand polydactyly 5% Preaxial hand polydactyly 5% Absent septum pellucidum - Acne - Acrobrachycephaly - Agenesis of corpus callosum - Anomalous tracheal cartilage - Arachnoid cyst - Arnold-Chiari type I malformation - Autosomal dominant inheritance - Bifid uvula - Brachyturricephaly - Broad distal hallux - Broad distal phalanx of the thumb - Broad forehead - Cervical vertebrae fusion (C5/C6) - Choanal stenosis - Chronic otitis media - Coronal craniosynostosis - Cryptorchidism - Cutaneous finger syndactyly - Delayed cranial suture closure - Dental malocclusion - Esophageal atresia - Flat face - Growth abnormality - Hearing impairment - High forehead - Humeroradial synostosis - Hydronephrosis - Hypoplasia of midface - Intellectual disability - Large fontanelles - Limbic malformations - Megalencephaly - Narrow palate - Overriding aorta - Posterior fossa cyst - Pyloric stenosis - Shallow orbits - Synostosis of carpal bones - Vaginal atresia - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

### Question: What are the treatments for Charcot-Marie-Tooth disease ? ### Answer:

These resources address the diagnosis or management of Charcot-Marie-Tooth disease: - Gene Review: Gene Review: Charcot-Marie-Tooth Hereditary Neuropathy Overview - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy Type 1 - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy Type 2 - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy Type 2A - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy Type 2E/1F - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy Type 4 - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy Type 4A - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy Type 4C - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy X Type 1 - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy X Type 5 - Gene Review: Gene Review: DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy - Gene Review: Gene Review: GARS-Associated Axonal Neuropathy - Gene Review: Gene Review: TRPV4-Associated Disorders - Genetic Testing Registry: Charcot-Marie-Tooth disease - Genetic Testing Registry: Charcot-Marie-Tooth disease dominant intermediate 3 - Genetic Testing Registry: Charcot-Marie-Tooth disease type 1B - Genetic Testing Registry: Charcot-Marie-Tooth disease type 2B - Genetic Testing Registry: Charcot-Marie-Tooth disease type 2B1 - Genetic Testing Registry: Charcot-Marie-Tooth disease type 2B2 - Genetic Testing Registry: Charcot-Marie-Tooth disease type 2C - Genetic Testing Registry: Charcot-Marie-Tooth disease type 2D - Genetic Testing Registry: Charcot-Marie-Tooth disease type 2E - Genetic Testing Registry: Charcot-Marie-Tooth disease type 2F - Genetic Testing Registry: Charcot-Marie-Tooth disease type 2I - Genetic Testing Registry: Charcot-Marie-Tooth disease type 2J - Genetic Testing Registry: Charcot-Marie-Tooth disease type 2K - Genetic Testing Registry: Charcot-Marie-Tooth disease type 2P - Genetic Testing Registry: Charcot-Marie-Tooth disease, X-linked recessive, type 5 - Genetic Testing Registry: Charcot-Marie-Tooth disease, axonal, type 2O - Genetic Testing Registry: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive - Genetic Testing Registry: Charcot-Marie-Tooth disease, dominant intermediate C - Genetic Testing Registry: Charcot-Marie-Tooth disease, dominant intermediate E - Genetic Testing Registry: Charcot-Marie-Tooth disease, recessive intermediate A - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 1C - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 2A1 - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 2A2 - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 2L - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 2N - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 4A - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 4B1 - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 4B2 - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 4C - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 4D - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 4H - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 4J - Genetic Testing Registry: Charcot-Marie-Tooth disease, type I - Genetic Testing Registry: Charcot-Marie-Tooth disease, type IA - Genetic Testing Registry: Charcot-Marie-Tooth disease, type ID - Genetic Testing Registry: Charcot-Marie-Tooth disease, type IE - Genetic Testing Registry: Charcot-Marie-Tooth disease, type IF - Genetic Testing Registry: Congenital hypomyelinating neuropathy - Genetic Testing Registry: DNM2-related intermediate Charcot-Marie-Tooth neuropathy - Genetic Testing Registry: Dejerine-Sottas disease - Genetic Testing Registry: Roussy-Lvy syndrome - Genetic Testing Registry: X-linked hereditary motor and sensory neuropathy - MedlinePlus Encyclopedia: Charcot-Marie-Tooth Disease - MedlinePlus Encyclopedia: Hammer Toe - MedlinePlus Encyclopedia: High Arch These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care

### Question: What are the symptoms of Myhre syndrome ? ### Answer:

What are the signs and symptoms of Myhre syndrome? Myhre syndrome is a condition with features affecting many systems and functions of the body. Associated findings might include: Delayed development of language and motor skills such as crawling and walking Intellectual disability that ranges from mild to moderate Behavioral issues such as features of autism or related developmental disorders affecting communication and social interaction Hearing loss, which can be caused by changes in the inner ear (sensorineural deafness), changes in the middle ear (conductive hearing loss), or both (mixed hearing loss) Reduced growth, beginning before birth and continuing through adolescence and affecting weight and height (many are shorter than about 97 percent of their peers) Stiffness of the skin resulting in a muscular appearance Skeletal abnormalities including thickening of the skull bones, flattened bones of the spine (platyspondyly), broad ribs, underdevelopment of the winglike structures of the pelvis (hypoplastic iliac wings), and unusually short fingers and toes (brachydactyly) Joint problems (arthropathy), including stiffness and limited mobility Typical facial features including narrow openings of the eyelids (short palpebral fissures), a shortened distance between the nose and upper lip (a short philtrum), a sunken appearance of the middle of the face (midface hypoplasia), a small mouth with a thin upper lip, and a protruding jaw (prognathism) An opening in the roof of the mouth (a cleft palate), a split in the lip (a cleft lip), or both Constriction of the throat (laryngotracheal stenosis) High blood pressure (hypertension) Heart or eye abnormalities In males, undescended testes (cryptorchidism) The Human Phenotype Ontology provides the following list of signs and symptoms for Myhre syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of pelvic girdle bone morphology 90% Abnormality of the ribs 90% Brachydactyly syndrome 90% Cognitive impairment 90% Craniofacial hyperostosis 90% Hearing impairment 90% Intrauterine growth retardation 90% Limitation of joint mobility 90% Malar flattening 90% Mandibular prognathia 90% Narrow mouth 90% Platyspondyly 90% Short philtrum 90% Short stature 90% Skeletal muscle hypertrophy 90% Thin vermilion border 90% Abnormality of the cardiac septa 50% Abnormality of the metaphyses 50% Blepharophimosis 50% Cryptorchidism 50% EMG abnormality 50% Hypermetropia 50% Hypertension 50% Ptosis 50% Thickened skin 50% Behavioral abnormality 7.5% Cataract 7.5% Cleft palate 7.5% Displacement of the external urethral meatus 7.5% Hernia of the abdominal wall 7.5% Non-midline cleft lip 7.5% Precocious puberty 7.5% Ataxia 5% Microphthalmia 5% Obesity 5% Oral cleft 5% Respiratory failure 5% Respiratory insufficiency 5% 2-3 toe syndactyly - Abnormality of the voice - Aortic valve stenosis - Autism - Autosomal dominant inheritance - Broad ribs - Camptodactyly - Clinodactyly - Coarctation of aorta - Cone-shaped epiphysis - Deeply set eye - Enlarged vertebral pedicles - Fine hair - Generalized muscle hypertrophy - Hypertelorism - Hypoplasia of midface - Hypoplasia of the maxilla - Hypoplastic iliac wing - Intellectual disability - Laryngotracheal stenosis - Low-set ears - Microcephaly - Microtia - Overlapping toe - Patent ductus arteriosus - Pericardial effusion - Prominent nasal bridge - Radial deviation of finger - Seizures - Short finger - Short long bone - Short neck - Short toe - Sparse hair - Stiff skin - Strabismus - Thick eyebrow - Thickened calvaria - Vertebral fusion - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.