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Question: How to diagnose Biliary Atresia ? Answer:

No single test can definitively diagnose biliary atresia, so a series of tests is needed. All infants who still have jaundice 2 to 3 weeks after birth, or who have gray or white stools after 2 weeks of birth, should be checked for liver damage.2 Infants with suspected liver damage are usually referred to a - pediatric gastroenterologist, a doctor who specializes in childrens digestive diseases - pediatric hepatologist, a doctor who specializes in childrens liver diseases - pediatric surgeon, a doctor who specializes in operating on childrens livers and bile ducts The health care provider may order some or all of the following tests to diagnose biliary atresia and rule out other causes of liver problems. If biliary atresia is still suspected after testing, the next step is diagnostic surgery for confirmation. Blood test. A blood test involves drawing blood at a health care providers office or commercial facility and sending the sample to a lab for analysis. High levels of bilirubin in the blood can indicate blocked bile ducts. Abdominal x rays. An x ray is a picture created by using radiation and recorded on film or on a computer. The amount of radiation used is small. An x ray is performed at a hospital or outpatient center by an x-ray technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging. Anesthesia is not needed, but sedation may be used to keep infants still. The infant will lie on a table during the x ray. The x-ray machine is positioned over the abdominal area. Abdominal x rays are used to check for an enlarged liver and spleen. 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 a radiologist. Anesthesia is not needed, but sedation may be used to keep the infant still. The images can show whether the liver or bile ducts are enlarged and whether tumors or cysts are blocking the flow of bile. An ultrasound cannot be used to diagnose biliary atresia, but it does help rule out other common causes of jaundice. Liver scans. Liver scans are special x rays that use chemicals to create an image of the liver and bile ducts. Liver scans are performed at a hospital or outpatient facility, usually by a nuclear medicine technician. The infant will usually receive general anesthesia or be sedated before the procedure. Hepatobiliary iminodiacetic acid scanning, a type of liver scan, uses injected radioactive dye to trace the path of bile in the body. The test can show if and where bile flow is blocked. Blockage is likely to be caused by biliary atresia. Liver biopsy. A biopsy is a procedure that involves taking a piece of liver tissue for examination with a microscope. The biopsy is performed by a health care provider in a hospital with light sedation and local anesthetic. The health care provider uses imaging techniques such as ultrasound or a computerized tomography scan to guide the biopsy needle into the liver. The liver tissue is examined in a lab by a pathologista doctor who specializes in diagnosing diseases. A liver biopsy can show whether biliary atresia is likely. A biopsy can also help rule out other liver problems, such as hepatitisan irritation of the liver that sometimes causes permanent damage. Diagnostic surgery. During diagnostic surgery, a pediatric surgeon makes an incision, or cut, in the abdomen to directly examine the liver and bile ducts. If the surgeon confirms that biliary atresia is the problem, a Kasai procedure will usually be performed immediately. Diagnostic surgery and the Kasai procedure are performed at a hospital or outpatient facility; the infant will be under general anesthesia during surgery.

Question: What are the symptoms of Immunodeficiency with hyper IgM type 1 ? Answer:

What are the signs and symptoms of Immunodeficiency with hyper IgM type 1? Symptoms and physical findings associated with hyper IgM syndrome usually become apparent in the first or second year of life. This condition may be characterized by recurrent pus-producing (pyogenic) bacterial infections of the upper and lower respiratory tract including the sinuses (sinusitis) and/or the lungs (pneumonitis or pneumonia); the middle ear (otitis media); the membrane that lines the eyelids and the white portions (sclera) of the eyes (conjunctivitis); the skin (pyoderma); and/or, in some cases, other areas. Other signs of the disease include enlarged tonsils, liver, and spleen, chronic diarrhea, and an increased risk of unusual or opportunistic infections and non-Hodgkins lymphoma. Opportunistic infections are infections caused by microorganisms that usually do not cause disease in individuals with fully functioning immune systems (non-immunocompromised) or widespread (systemic) overwhelming disease by microorganisms that typically cause only localized, mild infections. In individuals with Hyper-IgM Syndrome, such opportunistic infections may include those caused by Pneumocystis carinii, a microorganism that causes a form of pneumonia, or Cryptosporidium, a single-celled parasite (protozoa) that can cause infections of the intestinal tract. In addition, individuals with Hyper-IgM Syndrome are prone to certain autoimmune disorders affecting particular elements of the blood. Autoimmune attacks on red blood cells lead to anemia, while autoimmune destruction of infection-fighting neutrophils further increases the risk of infection. The range and severity of symptoms and physical features associated with this disorder may vary from case to case. The Human Phenotype Ontology provides the following list of signs and symptoms for Immunodeficiency with hyper IgM 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) Absence of lymph node germinal center - Autoimmune hemolytic anemia - Autoimmune thrombocytopenia - Autosomal recessive inheritance - Bronchiectasis - Decreased T cell activation - Diarrhea - Dysgammaglobulinemia - Epididymitis - Gingivitis - Hemolytic anemia - Hepatitis - Hepatomegaly - IgA deficiency - IgE deficiency - IgG deficiency - Immunodeficiency - Impaired Ig class switch recombination - Impaired memory B-cell generation - Increased IgM level - Lymphadenopathy - Myelodysplasia - Neutropenia - Osteomyelitis - Recurrent bacterial infections - Recurrent infection of the gastrointestinal tract - Recurrent respiratory infections - Recurrent upper and lower respiratory tract infections - Recurrent upper respiratory tract infections - Splenomegaly - Stomatitis - Thrombocytopenia - X-linked recessive 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: How to diagnose Nasopharyngeal Cancer ? Answer:

Tests that examine the nose and throat are used to detect (find) and diagnose nasopharyngeal cancer. 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 swollen lymph nodes in the neck or anything else that seems unusual. A history of the patients 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 persons 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. - 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 tissue sample is removed during one of the following procedures: - Nasoscopy : A procedure to look inside the nose for abnormal areas. A nasoscope is inserted through the nose. A nasoscope 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. - Upper endoscopy : A procedure to look at the inside of the nose, throat, esophagus, stomach, and duodenum (first part of the small intestine, near the stomach). An endoscope is inserted through the mouth and into the esophagus, stomach, and duodenum. 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 samples. The tissue samples are checked under a microscope for signs of cancer. - 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. - 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. PET scans may be used to find nasopharyngeal cancers that have spread to the bone. Sometimes a PET scan and a CT scan are done at the same time. If there is any cancer, this increases the chance that it will be found. - 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. - 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. - Epstein-Barr virus (EBV) test: A blood test to check for antibodies to the Epstein-Barr virus and DNA markers of the Epstein-Barr virus. These are found in the blood of patients who have been infected with EBV. - Hearing test: A procedure to check whether soft and loud sounds and low- and high-pitched sounds can be heard. Each ear is checked separately.

Question: What is (are) Childhood Astrocytomas ? Answer:

Key Points - Childhood astrocytoma is a disease in which benign (noncancer) or malignant (cancer) cells form in the tissues of the brain. - Astrocytomas may be benign (not cancer) or malignant (cancer). - The central nervous system controls many important body functions. - The cause of most childhood brain tumors is not known. - The signs and symptoms of astrocytomas are not the same in every child. - Tests that examine the brain and spinal cord are used to detect (find) childhood astrocytomas. - Childhood astrocytomas are usually diagnosed and removed in surgery. - Certain factors affect prognosis (chance of recovery) and treatment options. Childhood astrocytoma is a disease in which benign (noncancer) or malignant (cancer) cells form in the tissues of the brain. Astrocytomas are tumors that start in star-shaped brain cells called astrocytes. An astrocyte is a type of glial cell. Glial cells hold nerve cells in place, bring food and oxygen to them, and help protect them from disease, such as infection. Gliomas are tumors that form from glial cells. An astrocytoma is a type of glioma. Astrocytoma is the most common type of glioma diagnosed in children. It can form anywhere in the central nervous system (brain and spinal cord). This summary is about the treatment of tumors that begin in astrocytes in the brain (primary brain tumors). Metastatic brain tumors are formed by cancer cells that begin in other parts of the body and spread to the brain. Treatment of metastatic brain tumors is not discussed here. Brain tumors can occur in both children and adults. However, treatment for children may be different than treatment for adults. See the following PDQ summaries for more information about other types of brain tumors in children and adults: - Childhood Brain and Spinal Cord Tumors Treatment Overview - Adult Central Nervous System Tumors Treatment Astrocytomas may be benign (not cancer) or malignant (cancer). Benign brain tumors grow and press on nearby areas of the brain. They rarely spread into other tissues. Malignant brain tumors are likely to grow quickly and spread into other brain tissue. 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. Both benign and malignant brain tumors can cause signs and symptoms and almost all need treatment. The central nervous system controls many important body functions. Astrocytomas are most common in these parts of the central nervous system (CNS): - Cerebrum : The largest part of the brain, at the top of the head. The cerebrum controls thinking, learning, problem-solving, speech, emotions, reading, writing, and voluntary movement. - Cerebellum : The lower, back part of the brain (near the middle of the back of the head). The cerebellum controls movement, balance, and posture. - Brain stem : The part that connects the brain to the spinal cord, in the lowest part of the brain (just above the back of the neck). The brain stem controls breathing, heart rate, and the nerves and muscles used in seeing, hearing, walking, talking, and eating. - Hypothalamus : The area in the middle of the base of the brain. It controls body temperature, hunger, and thirst. - Visual pathway: The group of nerves that connect the eye with the brain. - Spinal cord: The column of nerve tissue that runs from the brain stem down the center of the back. It is covered by three thin layers of tissue called membranes. The spinal cord and membranes are surrounded by the vertebrae (back bones). Spinal cord nerves carry messages between the brain and the rest of the body, such as a message from the brain to cause muscles to move or a message from the skin to the brain to feel touch.

Question: What causes Adrenal Insufficiency and Addison's Disease ? Answer:

Autoimmune disorders cause most cases of Addisons disease. Infections and medications may also cause the disease. Autoimmune Disorders Up to 80 percent of Addisons disease cases are caused by an autoimmune disorder, which is when the bodys immune system attacks the bodys own cells and organs.2 In autoimmune Addisons, which mainly occurs in middle-aged females, the immune system gradually destroys the adrenal cortexthe outer layer of the adrenal glands.2 Primary adrenal insufficiency occurs when at least 90 percent of the adrenal cortex has been destroyed.1 As a result, both cortisol and aldosterone are often lacking. Sometimes only the adrenal glands are affected. Sometimes other endocrine glands are affected as well, as in polyendocrine deficiency syndrome. Polyendocrine deficiency syndrome is classified into type 1 and type 2. Type 1 is inherited and occurs in children. In addition to adrenal insufficiency, these children may have - underactive parathyroid glands, which are four pea-sized glands located on or near the thyroid gland in the neck; they produce a hormone that helps maintain the correct balance of calcium in the body. - slow sexual development. - pernicious anemia, a severe type of anemia; anemia is a condition in which red blood cells are fewer than normal, which means less oxygen is carried to the bodys cells. With most types of anemia, red blood cells are smaller than normal; however, in pernicious anemia, the cells are bigger than normal. - chronic fungal infections. - chronic hepatitis, a liver disease. Researchers think type 2, which is sometimes called Schmidts syndrome, is also inherited. Type 2 usually affects young adults and may include - an underactive thyroid gland, which produces hormones that regulate metabolism - slow sexual development - diabetes, in which a person has high blood glucose, also called high blood sugar or hyperglycemia - vitiligo, a loss of pigment on areas of the skin Infections Tuberculosis (TB), an infection that can destroy the adrenal glands, accounts for 10 to 15 percent of Addisons disease cases in developed countries.1 When primary adrenal insufficiency was first identified by Dr. Thomas Addison in 1849, TB was the most common cause of the disease. As TB treatment improved, the incidence of Addisons disease due to TB of the adrenal glands greatly decreased. However, recent reports show an increase in Addisons disease from infections such as TB and cytomegalovirus. Cytomegalovirus is a common virus that does not cause symptoms in healthy people; however, it does affect babies in the womb and people who have a weakened immune systemmostly due to HIV/AIDS.2 Other bacterial infections, such as Neisseria meningitidis, which is a cause of meningitis, and fungal infections can also lead to Addisons disease. Other Causes Less common causes of Addisons disease are - cancer cells in the adrenal glands - amyloidosis, a serious, though rare, group of diseases that occurs when abnormal proteins, called amyloids, build up in the blood and are deposited in tissues and organs - surgical removal of the adrenal glands - bleeding into the adrenal glands - genetic defects including abnormal adrenal gland development, an inability of the adrenal glands to respond to ACTH, or a defect in adrenal hormone production - medication-related causes, such as from anti-fungal medications and the anesthetic etomidate, which may be used when a person undergoes an emergency intubationthe placement of a flexible, plastic tube through the mouth and into the trachea, or windpipe, to assist with breathing 2

Question: How to diagnose Tetralogy of Fallot ? Answer:

Doctors diagnose tetralogy of Fallot based on a baby's signs and symptoms, a physical exam, and the results from tests and procedures. Signs and symptoms of the heart defect usually occur during the first weeks of life. Your infant's doctor may notice signs or symptoms during a routine checkup. Some parents also notice cyanosis or poor feeding and bring the baby to the doctor. (Cyanosis is a bluish tint to the skin, lips, and fingernails.) Specialists Involved If your child has tetralogy of Fallot, a pediatric cardiologist and pediatric cardiac surgeon may be involved in his or her care. A pediatric cardiologist is a doctor who specializes in diagnosing and treating heart problems in children. Pediatric cardiac surgeons repair children's heart defects using surgery. Physical Exam During a physical exam, the doctor may: Listen to your baby's heart and lungs with a stethoscope. Look for signs of a heart defect, such as a bluish tint to the skin, lips, or fingernails and rapid breathing. Look at your baby's general appearance. Some children who have tetralogy of Fallot also have DiGeorge syndrome. This syndrome causes characteristic facial traits, such as wide-set eyes. Diagnostic Tests and Procedures Your child's doctor may recommend several tests to diagnose tetralogy of Fallot. These tests can provide information about the four heart defects that occur in tetralogy of Fallot and how serious they are. Echocardiography Echocardiography (echo) is a painless test that uses sound waves to create a moving picture of the heart. During the test, the sound waves (called ultrasound) bounce off the structures of the heart. A computer converts the sound waves into pictures on a screen. Echo allows the doctor to clearly see any problem with the way the heart is formed or the way it's working. Echo is an important test for diagnosing tetralogy of Fallot because it shows the four heart defects and how the heart is responding to them. This test helps the cardiologist decide when to repair the defects and what type of surgery to use. Echo also is used to check a child's condition over time, after the defects have been repaired. 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 the heart. This test can help the doctor find out whether your child's right ventricle is enlarged (ventricular hypertrophy). Chest X Ray A chest x ray is a painless test that creates pictures of the structures in the chest, such as the heart and lungs. This test can show whether the heart is enlarged or whether the lungs have extra blood flow or extra fluid, a sign of heart failure. Pulse Oximetry For this test, a small sensor is attached to a finger or toe (like an adhesive bandage). The sensor gives an estimate of how much oxygen is in the blood. Cardiac Catheterization During cardiac catheterization (KATH-eh-ter-ih-ZA-shun), a thin, flexible tube called a catheter is put into a vein in the arm, groin (upper thigh), or neck. The tube is threaded to the heart. Special dye is injected through the catheter into a blood vessel or one of the heart's chambers. The dye allows the doctor to see the flow of blood through the heart and blood vessels on an x-ray image. The doctor also can use cardiac catheterization to measure the pressure and oxygen level inside the heart chambers and blood vessels. This can help the doctor figure out whether blood is mixing between the two sides of the heart.

Question: What causes Endocarditis ? Answer:

Infective endocarditis (IE) occurs if bacteria, fungi, or other germs invade your bloodstream and attach to abnormal areas of your heart. Certain factors increase the risk of this happening. A common underlying factor in IE is a structural heart defect, especially faulty heart valves. Usually your immune system will kill germs in your bloodstream. However, if your heart has a rough lining or abnormal valves, the invading germs can attach and multiply in the heart. Other factors also can play a role in causing IE. Common activities, such as brushing your teeth or having certain dental procedures, can allow bacteria to enter your bloodstream. This is even more likely to happen if your teeth and gums are in poor condition. Having a catheter (tube) or another medical device inserted through your skin, especially for long periods, also can allow bacteria to enter your bloodstream. People who use intravenous (IV) drugs also are at risk for IE because of the germs on needles and syringes. Bacteria also may spread to the blood and heart from infections in other parts of the body, such as the gut, skin, or genitals. Endocarditis Complications As the bacteria or other germs multiply in your heart, they form clumps with other cells and matter found in the blood. These clumps are called vegetations (vej-eh-TA-shuns). As IE worsens, pieces of the vegetations can break off and travel to almost any other organ or tissue in the body. There, the pieces can block blood flow or cause a new infection. As a result, IE can cause a range of complications. Heart Complications Heart problems are the most common complication of IE. They occur in one-third to one-half of all people who have the infection. These problems may include a new heart murmur, heart failure, heart valve damage, heart block, or, rarely, a heart attack. Central Nervous System Complications These complications occur in as many as 20 to 40 percent of people who have IE. Central nervous system complications most often occur when bits of the vegetation, called emboli (EM-bo-li), break away and lodge in the brain. The emboli can cause local infections called brain abscesses. Or, they can cause a more widespread brain infection called meningitis (men-in-JI-tis). Emboli also can cause strokes or seizures. This happens if they block blood vessels or affect the brain's electrical signals. These complications can cause long-term damage to the brain and may even be fatal. Complications in Other Organs IE also can affect other organs in the body, such as the lungs, kidneys, and spleen. Lungs. The lungs are especially at risk when IE affects the right side of the heart. This is called right-sided infective endocarditis. A vegetation or blood clot going to the lungs can cause a pulmonary embolism (PE) and lung damage. A PE is a sudden blockage in a lung artery. Other lung complications include pneumonia and a buildup of fluid or pus around the lungs. Kidneys. IE can cause kidney abscesses and kidney damage. The infection also can inflame the internal filtering structures of the kidneys. Signs and symptoms of kidney complications include back or side pain, blood in the urine, or a change in the color or amount of urine. In some cases, IE can cause kidney failure. Spleen. The spleen is an organ located in the left upper part of the abdomen near the stomach. In some people who have IE, the spleen enlarges (especially in people who have long-term IE). Sometimes emboli also can damage the spleen. Signs and symptoms of spleen problems include pain or discomfort in the upper left abdomen and/or left shoulder, a feeling of fullness or the inability to eat large meals, and hiccups.

Question: What are the symptoms of Noonan syndrome ? Answer:

What are the signs and symptoms of Noonan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan 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 helix 90% Abnormality of the nipple 90% Abnormality of the palate 90% Abnormality of the pulmonary artery 90% Abnormality of the pulmonary valve 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Cystic hygroma 90% Enlarged thorax 90% High forehead 90% Hypertelorism 90% Joint hypermobility 90% Low-set, posteriorly rotated ears 90% Malar flattening 90% Muscle weakness 90% Neurological speech impairment 90% Pectus carinatum 90% Pectus excavatum 90% Proptosis 90% Ptosis 90% Short stature 90% Thick lower lip vermilion 90% Thickened nuchal skin fold 90% Triangular face 90% Webbed neck 90% Abnormal dermatoglyphics 50% Abnormality of coagulation 50% Abnormality of the spleen 50% Abnormality of thrombocytes 50% Arrhythmia 50% Coarse hair 50% Cryptorchidism 50% Delayed skeletal maturation 50% Feeding difficulties in infancy 50% Hepatomegaly 50% Low posterior hairline 50% Muscular hypotonia 50% Scoliosis 50% Strabismus 50% Intellectual disability 25% Abnormal hair quantity 7.5% Brachydactyly syndrome 7.5% Clinodactyly of the 5th finger 7.5% Hypogonadism 7.5% Lymphedema 7.5% Melanocytic nevus 7.5% Nystagmus 7.5% Radioulnar synostosis 7.5% Sensorineural hearing impairment 7.5% Abnormal bleeding - Amegakaryocytic thrombocytopenia - Atria septal defect - Autosomal dominant inheritance - Clinodactyly - Coarctation of aorta - Cubitus valgus - Dental malocclusion - Epicanthus - Failure to thrive in infancy - Heterogeneous - High palate - Hypertrophic cardiomyopathy - Kyphoscoliosis - Male infertility - Myopia - Neurofibrosarcoma - Patent ductus arteriosus - Pectus excavatum of inferior sternum - Postnatal growth retardation - Pulmonic stenosis - Radial deviation of finger - Reduced factor XII activity - Reduced factor XIII activity - Shield chest - Short neck - Superior pectus carinatum - Synovitis - 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: How to diagnose Celiac Disease ? Answer:

A health care provider diagnoses celiac disease with - a medical and family history - a physical exam - blood tests - an intestinal biopsy - a skin biopsy Medical and Family History Taking a medical and family history may help a health care provider diagnose celiac disease. He or she will ask the patient or caregiver to provide a medical and family history, specifically if anyone in the patient's family has a history of celiac disease. Physical Exam A physical exam may help diagnose celiac disease. During a physical exam, a health care provider usually - examines the patient's body for malnutrition or a rash - uses a stethoscope to listen to sounds within the abdomen - taps on the patient's abdomen checking for bloating and pain Blood Tests A blood test involves drawing blood at a health care provider's office or a commercial facility and sending the sample to a lab for analysis. A blood test can show the presence of antibodies that are common in celiac disease. If blood test results are negative and a health care provider still suspects celiac disease, he or she may order additional blood tests, which can affect test results. Before the blood tests, patients should continue to eat a diet that includes foods with gluten, such as breads and pastas. If a patient stops eating foods with gluten before being tested, the results may be negative for celiac disease even if the disease is present. Intestinal Biopsy If blood tests suggest that a patient has celiac disease, a health care provider will perform a biopsy of the patient's small intestine to confirm the diagnosis. A biopsy is a procedure that involves taking a piece of tissue for examination with a microscope. A health care provider performs the biopsy in an outpatient center or a hospital. He or she will give the patient light sedation and a local anesthetic. Some patients may receive general anesthesia. During the biopsy, a health care provider removes tiny pieces of tissue from the patient's small intestine using an endoscopea small, flexible camera with a light. The health care provider carefully feeds the endoscope down the patient's esophagus and into the stomach and small intestine. A small camera mounted on the endoscope transmits a video image to a monitor, allowing close examination of the intestinal lining. The health care provider then takes the samples using tiny tools that he or she passes through the endoscope. A pathologista doctor who specializes in examining tissues to diagnose diseasesexamines the tissue in a lab. The test can show damage to the villi in the small intestine. Skin Biopsy When a health care provider suspects that a patient has dermatitis herpetiformis, he or she will perform a skin biopsy. A skin biopsy is a procedure that involves removing tiny pieces of skin tissue for examination with a microscope. A health care provider performs the biopsy in an outpatient center or a hospital. The patient receives a local anesthetic; however, in some cases, the patient will require general anesthesia. A pathologist examines the skin tissue in a lab and checks the tissue for antibodies that are common in celiac disease. If the skin tissue tests positive for the antibodies, a health care provider will perform blood tests to confirm celiac disease. If the skin biopsy and blood tests both suggest celiac disease, the patient may not need an intestinal biopsy for diagnosis. Genetic Tests In some cases, a health care provider will order genetic blood tests to confirm or rule out a diagnosis of celiac disease. Most people with celiac disease have gene pairs that contain at least one of the human leukocyte antigen (HLA) gene variants.4 However, these variants are also common in people without celiac disease, so their presence alone cannot diagnose celiac disease. If a biopsy and other blood tests do not give a clear diagnosis of celiac disease, a health care provider may test a patient for HLA gene variants. If the gene variants are not present, celiac disease is unlikely.

Question: What are the symptoms of TARP syndrome ? Answer:

What are the signs and symptoms of TARP syndrome? TARP is an acronym for the 4 main features that were present in individuals originally diagnosed with TARP syndrome: Talipes equinovarus (clubfoot) Atrial septal defect (ASD) - a heart defect at birth characterized by failure of an opening of the upper heart chambers to close Robin sequence Persistence of the left superior vena cava (SVC). More recently, some affected individuals (confirmed by genetic testing) have been described having a more diverse range of signs and symptoms. Two boys from one family with TARP syndrome were born without clubfoot, but had additional features including polydactyly (additional fingers and/or toes); cutaneous syndactyly (webbing of the skin between the fingers and/or toes); and masses on the underside of the tongue (sublingual tongue masses). An individual in another family had only one of the 4 main features. An individual in a third family had only 2 of the 4 features of TARP. Additional abnormalities that have been reported in the medical literature in affected individuals include failure to thrive; abnormal skull shape; round face; short palpebral fissures (decreased width of each eye); small or abnormally-shaped ears; poor muscle tone (hypotonia); developmental delay; eye or visual abnormalities; hearing loss; airway or lung abnormalities; undescended testicles (cryptorchidism); structural brain abnormalities; and intellectual disability. Most affected males have died before birth or shortly after birth. However, in 2011 there was a report of an affected individual who was 3 years, 7 months old and was surviving with intensive medical care. The authors of this report concluded that long-term survival is possible for individuals with TARP syndrome and that older affected individuals may exist. The Human Phenotype Ontology provides the following list of signs and symptoms for TARP 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) Arteriovenous malformation 90% Atria septal defect 90% Cleft palate 90% Glossoptosis 90% Cryptorchidism 50% Low-set, posteriorly rotated ears 50% Optic atrophy 5% Postaxial polydactyly 5% Short sternum 5% Tetralogy of Fallot 5% Tongue nodules 5% Abnormality of the corpus callosum - Anteverted nares - Cerebellar hypoplasia - Cerebellar vermis hypoplasia - Clinodactyly - Cutaneous syndactyly - Deep palmar crease - Failure to thrive - High palate - Horseshoe kidney - Hydronephrosis - Hypoplasia of the radius - Intrauterine growth retardation - Large fontanelles - Low-set ears - Microtia - Muscular hypotonia - Posteriorly rotated ears - Prominent antihelix - Short palpebral fissure - Single transverse palmar crease - Talipes equinovarus - Underdeveloped supraorbital ridges - Wide nasal bridge - X-linked 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: What are the symptoms of CHILD syndrome ? Answer:

What are the signs and symptoms of CHILD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CHILD 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) Congenital ichthyosiform erythroderma 100% Stillbirth 99% Abnormality of bone mineral density 90% Abnormality of the ribs 90% Abnormality of the thyroid gland 90% Amniotic constriction ring 90% Aplasia of the pectoralis major muscle 90% Aplasia/hypoplasia of the extremities 90% Asymmetric growth 90% Atria septal defect 90% Cognitive impairment 90% Epiphyseal stippling 90% Flexion contracture 90% Hypoplastic left heart 90% Ichthyosis 90% Skin rash 90% Sprengel anomaly 90% Thin skin 90% Upper limb phocomelia 90% Abnormality of the nail 75% Hyperkeratosis 75% Parakeratosis 75% Cerebral cortical atrophy 50% Abnormality of cardiovascular system morphology 7.5% Abnormality of epiphysis morphology 7.5% Abnormality of the adrenal glands 7.5% Abnormality of the cranial nerves 7.5% Abnormality of the fingernails 7.5% Abnormality of the heart valves 7.5% Alopecia 7.5% Aplasia/Hypoplasia of the lungs 7.5% Arteriovenous malformation 7.5% Cleft palate 7.5% Congenital hip dislocation 7.5% Dry skin 7.5% Elevated 8(9)-cholestenol 7.5% Elevated 8-dehydrocholesterol 7.5% Hearing impairment 7.5% Hypoplastic pelvis 7.5% Hypoplastic scapulae 7.5% Intrauterine growth retardation 7.5% Kyphosis 7.5% Myelomeningocele 7.5% Polycystic ovaries 7.5% Pulmonary hypoplasia 7.5% Renal hypoplasia/aplasia 7.5% Scoliosis 7.5% Short clavicles 7.5% Short ribs 7.5% Short stature 7.5% Ventricular septal defect 7.5% Vertebral hypoplasia 7.5% Adrenal hypoplasia 5% Aplasia/Hypoplasia involving the central nervous system 5% Thyroid hypoplasia 5% Abnormality of the cardiac septa - Cleft upper lip - Heterogeneous - Hydronephrosis - Intellectual disability, mild - Mild intrauterine growth retardation - Single ventricle - Umbilical hernia - 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: what research (or clinical trials) is being done for Breast Cancer ? Answer:

New Technologies Several new technologies offer hope for making future treatment easier for women with breast cancer. - Using a special tool, doctors can today insert a miniature camera through the nipple and into a milk duct in the breast to examine the area for cancer. Using a special tool, doctors can today insert a miniature camera through the nipple and into a milk duct in the breast to examine the area for cancer. - Researchers are testing another technique to help women who have undergone weeks of conventional radiation therapy. Using a small catheter -- a tube with a balloon tip -- doctors can deliver tiny radioactive beads to a place on the breast where cancer tissue has been removed. This can reduce the therapy time to a matter of days. Researchers are testing another technique to help women who have undergone weeks of conventional radiation therapy. Using a small catheter -- a tube with a balloon tip -- doctors can deliver tiny radioactive beads to a place on the breast where cancer tissue has been removed. This can reduce the therapy time to a matter of days. New Drug Combination Therapies New drug therapies and combination therapies continue to evolve. - A mix of drugs may increase the length of time you will live or the length of time you will live without cancer. It may someday prove useful for some women with localized breast cancer after they have had surgery. A mix of drugs may increase the length of time you will live or the length of time you will live without cancer. It may someday prove useful for some women with localized breast cancer after they have had surgery. - New research shows women with early-stage breast cancer who took the drug letrozole, an aromatase inhibitor, after they completed five years of tamoxifen therapy significantly reduced their risk of breast cancer recurrence. New research shows women with early-stage breast cancer who took the drug letrozole, an aromatase inhibitor, after they completed five years of tamoxifen therapy significantly reduced their risk of breast cancer recurrence. Treating HER2-Positive Breast Cancer Herceptin is a drug commonly used to treat women who have a certain type of breast cancer. This drug slows or stops the growth of cancer cells by blocking HER2, a protein found on the surface of some types of breast cancer cells. Approximately 20 to 25 percent of breast cancers produce too much HER2. These "HER2 positive" tumors tend to grow faster and are generally more likely to return than tumors that do not overproduce HER2. Results from clinical trials show that those patients with early-stage HER2 positive breast cancer who received Herceptin in combination with chemotherapy had a 52 percent decrease in risk in the cancer returning compared with patients who received chemotherapy treatment alone. Cancer treatments like chemotherapy can be systemic, meaning they affect whole tissues, organs, or the entire body. Herceptin, however, was the first drug used to target only a specific molecule involved in breast cancer. Another drug, Tykerb, was approved by the U.S. Food and Drug Administration for use for treatment of HER2-positive breast cancer. Because of the availability of these two drugs, an international trial called ALTTO was designed to determine if one drug is more effective, safer, and if taking the drugs separately, in tandem order, or together is better. Unfortunately, the results, released in 2014, showed that taking two HER2-targeted agents together was no better than taking one alone in improving survival. The TAILORx Trial In an attempt to further specialize breast cancer treatment, The Trial Assigning Individualized Options for Treatment, or TAILORx, enrolled 10,000 women to examine whether appropriate treatment can be assigned based on genes that are frequently associated with risk of recurrence of breast cancer. The goal of TAILORx is important because the majority of women with early-stage breast cancer are advised to receive chemotherapy in addition to radiation and hormonal therapy, yet research has not demonstrated that chemotherapy benefits all of them equally. TAILORx seeks to examine many of a woman's genes simultaneously and use this information in choosing a treatment course, thus sparing women unnecessary treatment if chemotherapy is not likely to be of substantial benefit to them.

Question: What are the treatments for Pleurisy and Other Pleural Disorders ? Answer:

Pleurisy and other pleural disorders are treated with procedures, medicines, and other methods. The goals of treatment include: Relieving symptoms Removing the fluid, air, or blood from the pleural space (if a large amount is present) Treating the underlying condition Relieving Symptoms To relieve pleurisy symptoms, your doctor may recommend: Acetaminophen or anti-inflammatory medicines (such as ibuprofen) to control pain. Codeine-based cough syrups to controlcoughing. Lying on your painful side. This might make you more comfortable. Breathing deeply and coughing to clear mucus as the pain eases. Otherwise, you may developpneumonia. Getting plenty of rest. Removing Fluid, Air, or Blood From the Pleural Space Your doctor may recommend removing fluid, air, or blood from your pleural space to prevent a lung collapse. The procedures used to drain fluid, air, or blood from the pleural space are similar. Duringthoracentesis, your doctor will insert a thin needle or plastic tube into the pleural space. An attached syringe will draw fluid out of your chest. This procedure can remove more than 6 cups of fluid at a time. If your doctor needs to remove a lot of fluid, he or she may use a chest tube. Your doctor will inject a painkiller into the area of your chest wall where the fluid is. He or she will then insert a plastic tube into your chest between two ribs. The tube will be connected to a box that suctions out the fluid. Your doctor will use achest x ray to check the tube's position. Your doctor also can use a chest tube to drain blood and air from the pleural space. This process can take several days. The tube will be left in place, and you'll likely stay in the hospital during this time. Sometimes the fluid in the pleural space contains thick pus or blood clots. It may form a hard skin or peel, which makes the fluid harder to drain. To help break up the pus or blood clots, your doctor may use a chest tube to deliver medicines called fibrinolytics to the pleural space. If the fluid still won't drain, you may need surgery. If you have a small, persistent air leak into the pleural space, your doctor may attach a one-way valve to the chest tube. The valve allows air to exit the pleural space, but not reenter. Using this type of valve may allow you to continue your treatment from home. Treat the Underlying Condition The fluid sample that was removed during thoracentesis will be checked under a microscope. This can tell your doctor what's causing the fluid buildup, and he or she can decide the best way to treat it. If the fluid is infected, treatment will involve antibiotics and drainage. If you have tuberculosis or a fungal infection, treatment will involve long-term use of antibiotics or antifungal medicines. If tumors in the pleura are causing fluid buildup, the fluid may quickly build up again after it's drained. Sometimes antitumor medicines will prevent further fluid buildup. If they don't, your doctor may seal the pleural space. Sealing the pleural space is called pleurodesis (plur-OD-eh-sis). For this procedure, your doctor will drain all of the fluid out of your chest through a chest tube. Then he or she will push a substance through the chest tube into the pleural space. The substance will irritate the surface of the pleura. This will cause the two layers of the pleura to stick together, preventing more fluid from building up. Chemotherapy or radiation treatment also may be used to reduce the size of the tumors. Ifheart failureis causing fluid buildup, treatment usually includes diuretics (medicines that help reduce fluid buildup) and other medicines.

Question: What is (are) Tetralogy of Fallot ? Answer:

Tetralogy (teh-TRAL-o-je) of Fallot (fah-LO) is a congenital heart defect. This is a problem with the heart's structure that's present at birth. Congenital heart defects change the normal flow of blood through the heart. Tetralogy of Fallot is a rare, complex heart defect. It occurs in about 5out of every 10,000 babies. The defect affects boys and girls equally. To understand tetralogy of Fallot, it helps to know how a healthy heart works. The Health Topics How the Heart Works article describes the structure and function of a healthy heart. The article also has animations that show how your heart pumps blood and how your heart's electrical system works. Overview Tetralogy of Fallot involves four heart defects: A large ventricular septal defect (VSD) Pulmonary (PULL-mun-ary) stenosis Right ventricular hypertrophy (hi-PER-tro-fe) An overriding aorta Ventricular Septal Defect The heart has an inner wall that separates the two chambers on its left side from the two chambers on its right side. This wall is called a septum. The septum prevents blood from mixing between the two sides of the heart. A VSD is a hole in the septum between the heart's two lower chambers, the ventricles. The hole allows oxygen-rich blood from the left ventricle to mix with oxygen-poor blood from the right ventricle. Pulmonary Stenosis This defect involves narrowing of the pulmonary valve and the passage from the right ventricle to the pulmonary artery. Normally, oxygen-poor blood from the right ventricle flows through the pulmonary valve and into the pulmonary artery. From there, the blood travels to the lungs to pick up oxygen. In pulmonary stenosis, the pulmonary valve cannot fully open. Thus, the heart has to work harder to pump blood through the valve. As a result, not enough blood reaches the lungs. Right Ventricular Hypertrophy With this defect, the muscle of the right ventricle is thicker than usual. This occurs because the heart has to work harder than normal to move blood through the narrowed pulmonary valve. Overriding Aorta This defect occurs in the aorta, the main artery that carries oxygen-rich blood from the heart to the body. In a healthy heart, the aorta is attached to the left ventricle. This allows only oxygen-rich blood to flow to the body. In tetralogy of Fallot, the aorta is located between the left and right ventricles, directly over the VSD. As a result, oxygen-poor blood from the right ventricle flows directly into the aorta instead of into the pulmonary artery. Outlook With tetralogy of Fallot, not enough blood is able to reach the lungs to get oxygen, and oxygen-poor blood flows to the body. Cross-Section of a Normal Heart and a Heart With Tetralogy of Fallot Babies and children who have tetralogy of Fallot have episodes of cyanosis (si-ah-NO-sis). Cyanosis is a bluish tint to the skin, lips, and fingernails. It occurs because the oxygen level in the blood leaving the heart is below normal. Tetralogy of Fallot is repaired with open-heart surgery, either soon after birth or later in infancy. The timing of the surgery will depend on how narrow the pulmonary artery is. Over the past few decades, the diagnosis and treatment of tetralogy of Fallot have greatly improved. Most children who have this heart defect survive to adulthood. However, they'll need lifelong medical care from specialists to help them stay as healthy as possible.

Question: What are the symptoms of Dyskeratosis congenita autosomal recessive ? Answer:

What are the signs and symptoms of Dyskeratosis congenita autosomal recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Dyskeratosis congenita autosomal recessive. 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 neutrophils 90% Abnormality of the fingernails 90% Anemia 90% Hypermelanotic macule 90% Thrombocytopenia 90% Abnormality of coagulation 50% Abnormality of female internal genitalia 50% Abnormality of the pharynx 50% Abnormality of the testis 50% Anonychia 50% Aplasia/Hypoplasia of the skin 50% Aplastic/hypoplastic toenail 50% Bone marrow hypocellularity 50% Carious teeth 50% Cellular immunodeficiency 50% Cognitive impairment 50% Hyperhidrosis 50% Hypopigmented skin patches 50% Intrauterine growth retardation 50% Malabsorption 50% Palmoplantar keratoderma 50% Recurrent fractures 50% Recurrent respiratory infections 50% Rough bone trabeculation 50% Short stature 50% Skin ulcer 50% Telangiectasia of the skin 50% Tracheoesophageal fistula 50% Abnormal blistering of the skin 7.5% Abnormality of the eyebrow 7.5% Alopecia 7.5% Aseptic necrosis 7.5% Cataract 7.5% Cerebral calcification 7.5% Cirrhosis 7.5% Diabetes mellitus 7.5% Displacement of the external urethral meatus 7.5% Hearing impairment 7.5% Hepatic failure 7.5% Hepatomegaly 7.5% Hypopigmentation of hair 7.5% Inflammatory abnormality of the eye 7.5% Lymphoma 7.5% Neoplasm of the pancreas 7.5% Premature graying of hair 7.5% Reduced bone mineral density 7.5% Scoliosis 7.5% Splenomegaly 7.5% Aplastic anemia - Autosomal recessive inheritance - Esophageal stricture - Hepatic fibrosis - Hyperpigmentation of the skin - Increased lacrimation - Intellectual disability - Microcephaly - Microdontia - Nail dysplasia - Nasolacrimal duct obstruction - Oral leukoplakia - Osteoporosis - Phenotypic variability - Pterygium formation (nails) - Pulmonary fibrosis - Small nail - Sparse eyelashes - Sparse scalp hair - 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 Ataxia telangiectasia ? Answer:

What are the signs and symptoms of Ataxia telangiectasia? Ataxia-telangiectasia affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5. Affected children typically develop difficulty walking, problems with balance and hand coordination, involuntary jerking movements (chorea), muscle twitches (myoclonus), and disturbances in nerve function (neuropathy). The movement problems typically cause people to require wheelchair assistance by adolescence. People with this disorder also have slurred speech and trouble moving their eyes to look side-to-side (oculomotor apraxia). Small clusters of enlarged blood vessels called telangiectases, which occur in the eyes and on the surface of the skin, are also characteristic of this condition. The Human Phenotype Ontology provides the following list of signs and symptoms for Ataxia telangiectasia. 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% Aplasia/Hypoplasia of the thymus 90% Cellular immunodeficiency 90% Decreased antibody level in blood 90% Elevated hepatic transaminases 90% Gait disturbance 90% Incoordination 90% Lymphopenia 90% Mucosal telangiectasiae 90% Neurological speech impairment 90% Nystagmus 90% Polycystic ovaries 90% Premature graying of hair 90% Recurrent respiratory infections 90% Strabismus 90% Telangiectasia of the skin 90% Tremor 90% Hypertonia 50% Hypopigmentation of hair 50% Neoplasm 50% Seizures 50% Short stature 50% Skeletal muscle atrophy 50% Abnormality of the testis 7.5% Aplasia/Hypoplasia of the skin 7.5% Cafe-au-lait spot 7.5% Cognitive impairment 7.5% Type II diabetes mellitus 7.5% Abnormal spermatogenesis - Abnormality of the hair - Ataxia - Autosomal recessive inheritance - Bronchiectasis - Choreoathetosis - Conjunctival telangiectasia - Decreased number of CD4+ T cells - Defective B cell differentiation - Delayed puberty - Diabetes mellitus - Dysarthria - Dystonia - Elevated alpha-fetoprotein - Female hypogonadism - Glucose intolerance - Hodgkin lymphoma - Hypoplasia of the thymus - IgA deficiency - Immunoglobulin IgG2 deficiency - Leukemia - Myoclonus - Non-Hodgkin lymphoma - Recurrent bronchitis - Sinusitis - 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 Plasma Cell Neoplasms (Including Multiple Myeloma) ? Answer:

Tests that examine the blood, bone marrow, and urine are used to detect (find) and diagnose multiple myeloma and other plasma cell neoplasms. 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 and urine immunoglobulin studies: A procedure in which a blood or urine sample is checked to measure the amounts of certain antibodies (immunoglobulins). For multiple myeloma, beta-2-microglobulin, M protein, free light chains, and other proteins made by the myeloma cells are measured. A higher-than-normal amount of these substances can be a sign of disease. - 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 or breastbone. A pathologist views the bone marrow, blood, and bone under a microscope to look for abnormal cells. The following test may be done on the sample of tissue removed during the bone marrow aspiration and biopsy: - Cytogenetic analysis : A test in which cells in a sample of bone marrow are viewed under a microscope to look for certain changes in the chromosomes. Other tests, such as fluorescence in situ hybridization (FISH) and flow cytometry, may also be done to look for certain changes in the chromosomes. - Skeletal bone survey: In a skeletal bone survey, x-rays of all the bones in the body are taken. The x-rays are used to find areas where the bone is damaged. 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. - Complete blood count (CBC) with differential : A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells and platelets. - The number and type of white blood cells. - 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 calcium or albumin, 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. - Twenty-four-hour urine test: A test in which urine is collected for 24 hours to measure the amounts of certain substances. An unusual (higher or lower than normal) amount of a substance can be a sign of disease in the organ or tissue that makes it. A higher than normal amount of protein may be a sign of multiple myeloma. - 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). An MRI of the spine and pelvis may be used to find areas where the bone is damaged. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the spine, 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-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 with the same machine. The combined scans give more detailed pictures of areas inside the body, such as the spine, than either scan gives by itself.

Question: What are the symptoms of Mandibulofacial dysostosis with microcephaly ? Answer:

What are the signs and symptoms of Mandibulofacial dysostosis with microcephaly? Mandibulofacial dysostosis with microcephaly (MFDM) may affect multiple parts of the body but primarily affects the head and face. People with MFDM are usually born with a small head (microcephaly) which does not grow at the same rate as the body. Intellectual disability ranges from mild to severe and is present in almost all affected people. Speech and language problems are also common. Facial abnormalities in affected people may include underdevelopment (hypoplasia) of the midface and cheekbones; a small lower jaw (micrognathia); small and malformed ears; facial asymmetry; and cleft palate. Other head and facial features may include a metopic ridge; up- or downslanting palpebral fissures; a prominent glabella (space between the eyebrows); a broad nasal bridge; a bulbous nasal tip; and an everted lower lip. Abnormalities of the ear canal, ear bones, or inner ear often lead to hearing loss. Affected people can also have a blockage of the nasal passages (choanal atresia) that can cause respiratory problems. Other signs and symptoms in some people with MFDM may include esophageal atresia, congenital heart defects, thumb anomalies, and/or short stature. The Human Phenotype Ontology provides the following list of signs and symptoms for Mandibulofacial dysostosis with microcephaly. 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 antihelix 90% Abnormality of the tragus 90% Cleft palate 90% Cognitive impairment 90% Low-set, posteriorly rotated ears 90% Malar flattening 90% Microcephaly 90% Neurological speech impairment 90% Preauricular skin tag 90% Short nose 90% Short stature 90% Trigonocephaly 90% Upslanted palpebral fissure 90% Atresia of the external auditory canal 50% Epicanthus 50% Large earlobe 50% Overfolded helix 50% Preaxial hand polydactyly 50% Telecanthus 50% Trismus 50% Atria septal defect 7.5% Proximal placement of thumb 7.5% Seizures 7.5% Sensorineural hearing impairment 7.5% Ventricular septal defect 7.5% Esophageal atresia 5% Anteverted nares - Autosomal dominant inheritance - Autosomal recessive inheritance - Choanal atresia - Conductive hearing impairment - Deep philtrum - Delayed speech and language development - Feeding difficulties in infancy - Hypoplasia of midface - Low-set ears - Mandibulofacial dysostosis - Microtia - Respiratory difficulties - Slender finger - 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 KBG syndrome ? Answer:

What are the signs and symptoms of KBG syndrome? KBG syndrome is often characterized by distinctive facial features, skeletal abnormalities, short stature, large upper teeth (macrodontia), and developmental delay or intellectual disability. However, the number and severity of symptoms can vary. Characteristic features of the head and face may include a wide, short skull (brachycephaly); triangular face shape; widely spaced eyes (hypertelorism); wide eyebrows that may connect (synophrys); prominent nasal bridge; a long space between the nose and upper lip; and a thin upper lip. In addition to macrodontia, affected people may have jagged or misaligned teeth and/or other abnormalities of the bones or sockets of the jaw. Skeletal abnormalities most often affect the limbs, spine, and/or ribs. Affected people often have delayed bone age. Other signs and symptoms that have been less commonly reported include seizures; syndactyly; a webbed, short neck; undescended testes (cryptorchidism); hearing loss; defects of the palate (roof of the mouth); strabismus; and congenital heart defects. The Human Phenotype Ontology provides the following list of signs and symptoms for KBG 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) Abnormal form of the vertebral bodies 90% Abnormality of calvarial morphology 90% Abnormality of the femur 90% Abnormality of the ribs 90% Aplasia/Hypoplasia of the eyebrow 90% Brachydactyly syndrome 90% Cognitive impairment 90% Delayed skeletal maturation 90% Macrodontia 90% Round face 90% Short stature 90% Telecanthus 90% EEG abnormality 50% Finger syndactyly 50% Hypertelorism 50% Low posterior hairline 50% Low-set, posteriorly rotated ears 50% Narrow mouth 50% Reduced number of teeth 50% Short neck 50% Single transverse palmar crease 50% Strabismus 50% Abnormality of dental enamel 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Facial asymmetry 7.5% Hearing impairment 7.5% Pointed chin 7.5% Postaxial hand polydactyly 7.5% Anteverted nares - Autosomal dominant inheritance - Cervical ribs - Clinodactyly - Intellectual disability - Long palpebral fissure - Long philtrum - Low anterior hairline - Macrotia - Microcephaly - Oligodontia - Radial deviation of finger - Rib fusion - Syndactyly - Thick eyebrow - Thoracic kyphosis - Triangular face - Underdeveloped nasal alae - Vertebral fusion - Widely-spaced maxillary central incisors - 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 Non-Small Cell Lung Cancer ? Answer:

Tests that examine the lungs are used to detect (find), diagnose, and stage non-small cell lung cancer. Tests and procedures to detect, diagnose, and stage non-small cell lung cancer are often done at the same time. Some of 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, including smoking, and past jobs, illnesses, and treatments will also be taken. - 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. - 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 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 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. - Sputum cytology : A procedure in which a pathologist views a sample of sputum (mucus coughed up from the lungs) under a microscope, to check for cancer cells. - Fine-needle aspiration (FNA) biopsy of the lung: The removal of tissue or fluid from the lung using a thin needle. A CT scan, ultrasound, or other imaging procedure is used to locate the abnormal tissue or fluid in the lung. A small incision may be made in the skin where the biopsy needle is inserted into the abnormal tissue or fluid. A sample is removed with the needle and sent to the laboratory. A pathologist then views the sample under a microscope to look for cancer cells. A chest x-ray is done after the procedure to make sure no air is leaking from the lung into the chest. - 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. - Thoracoscopy : A surgical procedure to look at the organs inside the chest to check for abnormal areas. An incision (cut) is made between two ribs, and a thoracoscope is inserted into the chest. A thoracoscope 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 cancer. In some cases, this procedure is used to remove part of the esophagus or lung. If certain tissues, organs, or lymph nodes cant be reached, a thoracotomy may be done. In this procedure, a larger incision is made between the ribs and the chest is opened. - Thoracentesis : The removal of fluid from the space between the lining of the chest and the lung, using a needle. A pathologist views the fluid under a microscope to look for cancer cells. - Light and electron 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.

Question: What is (are) Cystic Fibrosis ? Answer:

Cystic fibrosis (SIS-tik fi-BRO-sis), or CF, is an inherited disease of the secretory (see-KREH-tor-ee) glands. Secretory glands include glands that make mucus and sweat. "Inherited" means the disease is passed from parents to children through genes. People who have CF inherit two faulty genes for the diseaseone from each parent. The parents likely don't have the disease themselves. CF mainly affects the lungs, pancreas, liver, intestines, sinuses, and sex organs. Overview Mucus is a substance made by tissues that line some organs and body cavities, such as the lungs and nose. Normally, mucus is a slippery, watery substance. It keeps the linings of certain organs moist and prevents them from drying out or getting infected. If you have CF, your mucus becomes thick and sticky. It builds up in your lungs and blocks your airways. (Airways are tubes that carry air in and out of your lungs.) The buildup of mucus makes it easy for bacteria to grow. This leads to repeated, serious lung infections. Over time, these infections can severely damage your lungs. The thick, sticky mucus also can block tubes, or ducts, in your pancreas (an organ in your abdomen). As a result, the digestive enzymes that your pancreas makes can't reach your small intestine. These enzymes help break down food. Without them, your intestines can't fully absorb fats and proteins. This can cause vitamin deficiency and malnutrition because nutrients pass through your body without being used. You also may have bulky stools, intestinal gas, a swollen belly from severe constipation, and pain or discomfort. CF also causes your sweat to become very salty. Thus, when you sweat, you lose large amounts of salt. This can upset the balance of minerals in your blood and cause many health problems. Examples of these problems include dehydration (a lack of fluid in your body), increased heart rate, fatigue (tiredness), weakness, decreased blood pressure, heat stroke, and, rarely, death. If you or your child has CF, you're also at higher risk for diabetes or two bone-thinning conditions called osteoporosis (OS-te-o-po-RO-sis) and osteopenia (OS-te-o-PEE-nee-uh). CF also causes infertility in men, and the disease can make it harder for women to get pregnant. (The term "infertility" refers to the inability to have children.) Outlook The symptoms and severity of CF vary. If you or your child has the disease, you may have serious lung and digestive problems. If the disease is mild, symptoms may not show up until the teen or adult years. The symptoms and severity of CF also vary over time. Sometimes you'll have few symptoms. Other times, your symptoms may become more severe. As the disease gets worse, you'll have more severe symptoms more often. Lung function often starts to decline in early childhood in people who have CF. Over time, damage to the lungs can cause severe breathing problems. Respiratory failure is the most common cause of death in people who have CF. As treatments for CF continue to improve, so does life expectancy for those who have the disease. Today, some people who have CF are living into their forties or fifties, or longer. Early treatment for CF can improve your quality of life and increase your lifespan. Treatments may include nutritional and respiratory therapies, medicines, exercise, and other treatments. Your doctor also may recommend pulmonary rehabilitation (PR). PR is a broad program that helps improve the well-being of people who have chronic (ongoing) breathing problems.

Question: What are the symptoms of Dyskeratosis congenita autosomal dominant ? Answer:

What are the signs and symptoms of Dyskeratosis congenita autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Dyskeratosis congenita autosomal dominant. 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 neutrophils 90% Abnormality of the fingernails 90% Anemia 90% Hypermelanotic macule 90% Thrombocytopenia 90% Abnormality of coagulation 50% Abnormality of female internal genitalia 50% Abnormality of the pharynx 50% Abnormality of the testis 50% Anonychia 50% Aplasia/Hypoplasia of the skin 50% Aplastic/hypoplastic toenail 50% Bone marrow hypocellularity 50% Carious teeth 50% Cellular immunodeficiency 50% Cognitive impairment 50% Hyperhidrosis 50% Hypopigmented skin patches 50% Intrauterine growth retardation 50% Malabsorption 50% Palmoplantar keratoderma 50% Recurrent fractures 50% Recurrent respiratory infections 50% Rough bone trabeculation 50% Short stature 50% Skin ulcer 50% Telangiectasia of the skin 50% Tracheoesophageal fistula 50% Abnormal blistering of the skin 7.5% Abnormality of the eyebrow 7.5% Alopecia 7.5% Aseptic necrosis 7.5% Cataract 7.5% Cerebral calcification 7.5% Cirrhosis 7.5% Diabetes mellitus 7.5% Displacement of the external urethral meatus 7.5% Hearing impairment 7.5% Hepatic failure 7.5% Hepatomegaly 7.5% Hypopigmentation of hair 7.5% Inflammatory abnormality of the eye 7.5% Lymphoma 7.5% Neoplasm of the pancreas 7.5% Premature graying of hair 7.5% Reduced bone mineral density 7.5% Scoliosis 7.5% Splenomegaly 7.5% Aplastic anemia - Ataxia - Autosomal dominant inheritance - Cerebellar hypoplasia - Dermal atrophy - Interstitial pneumonitis - Lymphopenia - Myelodysplasia - Nail dystrophy - Nail pits - Oral leukoplakia - Osteoporosis - Phenotypic variability - Premature loss of teeth - Pulmonary fibrosis - Reticular hyperpigmentation - Ridged nail - Sparse hair - Specific learning disability - Squamous cell carcinoma of the skin - 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 Camptodactyly syndrome Guadalajara type 1 ? Answer:

What are the signs and symptoms of Camptodactyly syndrome Guadalajara type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly syndrome Guadalajara 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% Aplasia/Hypoplasia of the earlobes 90% Camptodactyly of finger 90% Dental malocclusion 90% Malar flattening 90% Pectus carinatum 90% Pectus excavatum 90% Telecanthus 90% Abnormality of calvarial morphology 50% Abnormality of the palate 50% Anteverted nares 50% Brachydactyly syndrome 50% Cognitive impairment 50% Cubitus valgus 50% Delayed skeletal maturation 50% Depressed nasal bridge 50% Downturned corners of mouth 50% Epicanthus 50% Hallux valgus 50% Intrauterine growth retardation 50% Mandibular prognathia 50% Melanocytic nevus 50% Microcephaly 50% Microcornea 50% Narrow chest 50% Narrow face 50% Narrow mouth 50% Seizures 50% Short nose 50% Short stature 50% Short toe 50% Spina bifida 50% Sprengel anomaly 50% Toe syndactyly 50% Underdeveloped supraorbital ridges 50% Blepharophimosis 7.5% Highly arched eyebrow 7.5% Long face 7.5% Low-set, posteriorly rotated ears 7.5% Sacral dimple 7.5% Short distal phalanx of finger 7.5% Synophrys 7.5% Abnormality of dental eruption - Absent ethmoidal sinuses - Absent frontal sinuses - Autosomal recessive inheritance - Bifid uvula - Brachycephaly - Camptodactyly of 2nd-5th fingers - Fibular hypoplasia - Flat face - High palate - Horizontal sacrum - Hypertelorism - Hypoplasia of midface - Hypoplastic 5th lumbar vertebrae - Hypoplastic iliac wing - Intellectual disability - Long neck - Low-set ears - Lumbar hyperlordosis - Microtia - Overfolding of the superior helices - Posteriorly rotated ears - Scapular winging - Short femoral neck - Short foot - Short metatarsal - Short palm - Short palpebral fissure - Small earlobe - Spina bifida occulta - Tubular metacarpal bones - Twelfth rib hypoplasia - Upslanted palpebral fissure - 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: Who is at risk for Breast Cancer? ? Answer:

The risks of breast cancer screening tests include the following. - Finding breast cancer may not improve health or help a woman live longer. Screening may not help you if you have fast-growing breast cancer or if it has already spread to other places in your body. Also, some breast cancers found on a screening mammogram may never cause symptoms or become life-threatening. Finding these cancers is called overdiagnosis. Finding breast cancer may not improve health or help a woman live longer. Screening may not help you if you have fast-growing breast cancer or if it has already spread to other places in your body. Also, some breast cancers found on a screening mammogram may never cause symptoms or become life-threatening. Finding these cancers is called overdiagnosis. - False-negative test results can occur. Screening test results may appear to be normal even though breast cancer is present. A woman who receives a false-negative test result (one that shows there is no cancer when there really is) may delay seeking medical care even if she has symptoms. False-negative test results can occur. Screening test results may appear to be normal even though breast cancer is present. A woman who receives a false-negative test result (one that shows there is no cancer when there really is) may delay seeking medical care even if she has symptoms. - False-positive test results can occur. Screening test results may appear to be abnormal even though no cancer is present. A false-positive test result (one that shows there is cancer when there really isnt) is usually followed by more tests (such as biopsy), which also have risks. False-positive test results can occur. Screening test results may appear to be abnormal even though no cancer is present. A false-positive test result (one that shows there is cancer when there really isnt) is usually followed by more tests (such as biopsy), which also have risks. - Anxiety from additional testing may result from false positive results. In one study, women who had a false-positive screening mammogram followed by more testing reported feeling anxiety 3 months later, even though cancer was not diagnosed. However, several studies show that women who feel anxiety after false-positive test results are more likely to schedule regular breast screening exams in the future. Anxiety from additional testing may result from false positive results. In one study, women who had a false-positive screening mammogram followed by more testing reported feeling anxiety 3 months later, even though cancer was not diagnosed. However, several studies show that women who feel anxiety after false-positive test results are more likely to schedule regular breast screening exams in the future. - Mammograms expose the breast to radiation. Being exposed to radiation is a risk factor for breast cancer. The risk of breast cancer from radiation exposure is higher in women who received radiation before age 30 and at high doses. For women older than 40 years, the benefits of an annual screening mammogram may be greater than the risks from radiation exposure. Mammograms expose the breast to radiation. Being exposed to radiation is a risk factor for breast cancer. The risk of breast cancer from radiation exposure is higher in women who received radiation before age 30 and at high doses. For women older than 40 years, the benefits of an annual screening mammogram may be greater than the risks from radiation exposure. - There may be pain or discomfort during a mammogram. During a mammogram, the breast is placed between 2 plates that are pressed together. Pressing the breast helps to get a better x-ray of the breast. Some women have pain or discomfort during a mammogram. There may be pain or discomfort during a mammogram. During a mammogram, the breast is placed between 2 plates that are pressed together. Pressing the breast helps to get a better x-ray of the breast. Some women have pain or discomfort during a mammogram. Some women worry about radiation exposure, but the risk of any harm from a mammogram is actually quite small. The doses of radiation used are very low and considered safe. The exact amount of radiation used during a mammogram will depend on several factors. For instance, breasts that are large or dense will require higher doses to get a clear image. Learn more about the risks of breast cancer screening.

Question: what research (or clinical trials) is being done for Prostate Cancer ? Answer:

Scientists continue to look at new ways to prevent, treat, and diagnose prostate cancer. Research has already led to a number of advances in these areas. Dietary Research Several studies are under way to explore the causes of prostate cancer. Some researchers think that diet may affect a man's chances of developing prostate cancer. For example, some studies show that prostate cancer is more common in populations that consume a high-fat diet, particularly animal fat, and in populations with diets that lack certain nutrients. Research on Testosterone Some research suggests that high levels of testosterone may increase a man's risk of prostate cancer. The difference in prostate cancer risk among racial groups could be related to high testosterone levels, but it also could result from diet or other lifestyle factors. Genetic Research Researchers are studying changes in genes that may increase the risk for developing prostate cancer. Some studies are looking at the genes of men who were diagnosed with prostate cancer at a relatively young age, such as less than 55 years old, and the genes of families who have several members with the disease. Other studies are trying to identify which genes, or arrangements of genes, are most likely to lead to prostate cancer. Much more work is needed, however, before scientists can say exactly how genetic changes relate to prostate cancer. Prevention Research Several studies have explored ways to prevent prostate cancer. In October 2008, initial results of a study on the use of the dietary supplements vitamin E and selenium found that they did not provide any benefit in reducing the number of new cases of the disease. A few studies suggest that a diet that regularly includes tomato-based foods may help protect men from prostate cancer, but there are no studies that conclusively prove this hypothesis. According to results of a study that was re-analyzed in 2013, men who took finasteride, a drug that affects male hormone levels, reduced their chances of getting prostate cancer by nearly 30 percent compared to men who took a placebo. Unlike earlier findings from this study, this new analysis showed no increased risk of late stage disease due to use of finasteride. Stopping Prostate Cancer from Returning Scientists are also looking at ways to stop prostate cancer from returning in men who have already been treated for the disease. These approaches use drugs such as finasteride, flutamide, nilutamide, and LH-RH agonists that manipulate hormone levels. In 2010, the FDA approved a therapeutic cancer vaccine, Provenge, for use in some men with metastatic prostate cancer. Provenge may provide a 4-month improvement in overall survival compared with a placebo vaccine. Other similar vaccine therapies are in development. Research on New Blood Tests Some researchers are working to develop new blood tests to detect the antibodies that the immune system produces to fight prostate cancer. When used along with PSA testing, the antibody tests may provide more accurate results about whether or not a man has prostate cancer. Researching New Approaches to Treatment Through research, doctors are trying to find new, more effective ways to treat prostate cancer. Cryosurgery -- destroying cancer by freezing it -- is under study as an alternative to surgery and radiation therapy. To avoid damaging healthy tissue, the doctor places an instrument known as a cryoprobe in direct contact with the tumor to freeze it. Doctors are studying new ways of using radiation therapy and hormonal therapy, too. Studies have shown that hormonal therapy given after radiation therapy can help certain men whose cancer has spread to nearby tissues. Scientists are also testing the effectiveness of chemotherapy and biological therapy for men whose cancer does not respond, or stops responding, to hormonal therapy. They are also exploring new ways to schedule and combine various treatments. For example, they are studying hormonal therapy to find out if using it to shrink the tumor before a man has surgery or radiation might be a useful approach. For men with early stage prostate cancer, researchers are also comparing treatment with watchful waiting. The results of this work will help doctors know whether to treat early stage prostate cancer immediately or only later on, if symptoms occur or worsen.

Question: What are the symptoms of Osteopathia striata cranial sclerosis ? Answer:

What are the signs and symptoms of Osteopathia striata cranial sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopathia striata cranial sclerosis. 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% Craniofacial hyperostosis 90% Rough bone trabeculation 90% Cleft palate 50% Conductive hearing impairment 50% Delayed eruption of teeth 50% Frontal bossing 50% Macrocephaly 50% Malar flattening 50% Scoliosis 50% Wide nasal bridge 50% Intellectual disability, mild 33% High palate 15% Abnormality of the aorta 7.5% Asymmetry of the thorax 7.5% Cataract 7.5% Cerebral calcification 7.5% Cognitive impairment 7.5% Delayed speech and language development 7.5% Epicanthus 7.5% Facial palsy 7.5% Headache 7.5% Hyperlordosis 7.5% Low-set, posteriorly rotated ears 7.5% Neurological speech impairment 7.5% Short stature 7.5% Spina bifida occulta 7.5% Anal atresia 5% Anal stenosis 5% Multicystic kidney dysplasia 5% Omphalocele 5% Apnea - Arachnodactyly - Atria septal defect - Bifid uvula - Broad ribs - Camptodactyly - Cleft upper lip - Clinodactyly of the 5th finger - Craniofacial osteosclerosis - Delayed closure of the anterior fontanelle - Dental crowding - Dental malocclusion - Failure to thrive - Fibular aplasia - Fibular hypoplasia - Flexion contracture of toe - Gastroesophageal reflux - Hydrocephalus - Hypertelorism - Intestinal malrotation - Joint contracture of the hand - Large fontanelles - Laryngeal web - Microtia - Muscular hypotonia - Narrow forehead - Nasal speech - Natal tooth - Oligohydramnios - Osteopathia striata - Overfolded helix - Paranasal sinus hypoplasia - Partial agenesis of the corpus callosum - Patent ductus arteriosus - Pectus excavatum - Pierre-Robin sequence - Polyhydramnios - Sclerosis of skull base - Seizures - Straight clavicles - Talipes equinovarus - Thick lower lip vermilion - Thickened calvaria - Thoracolumbar kyphosis - Tracheomalacia - Ventricular septal defect - Webbed neck - Wide intermamillary distance - 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: What are the symptoms of Pallister-Killian mosaic syndrome ? Answer:

What are the signs and symptoms of Pallister-Killian mosaic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pallister-Killian mosaic 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) Abnormal hair quantity 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Decreased body weight 90% Delayed eruption of teeth 90% Delayed skeletal maturation 90% Downturned corners of mouth 90% Hypohidrosis 90% Joint hypermobility 90% Long philtrum 90% Muscular hypotonia 90% Ptosis 90% Short neck 90% Thin vermilion border 90% Anteverted nares 50% Coarse facial features 50% Frontal bossing 50% Hypertelorism 50% Short nose 50% Telecanthus 50% Upslanted palpebral fissure 50% Abnormality of the soft palate 7.5% Strabismus 7.5% Urogenital fistula 7.5% Anal atresia - Anal stenosis - Anteriorly placed anus - Aortic valve stenosis - Aplasia of the uterus - Atria septal defect - Bifid uvula - Broad foot - Broad palm - Cataract - Cleft palate - Clinodactyly of the 5th finger - Coarctation of aorta - Congenital diaphragmatic hernia - Congenital hip dislocation - Cryptorchidism - Depressed nasal bridge - Epicanthus - Flexion contracture - Full cheeks - Hearing impairment - Hyperpigmented streaks - Hypertonia - Hypertrophic cardiomyopathy - Hypopigmented streaks - Hypoplastic labia majora - Hypospadias - Inguinal hernia - Intellectual disability, profound - Intestinal malrotation - Kyphoscoliosis - Macrocephaly - Macroglossia - Macrotia - Mesomelia - Mesomelic/rhizomelic limb shortening - Obesity - Omphalocele - Patent ductus arteriosus - Postaxial foot polydactyly - Postaxial hand polydactyly - Postnatal microcephaly - Prominent forehead - Proptosis - Pulmonary hypoplasia - Renal cyst - Renal dysplasia - Rhizomelia - Seizures - Short phalanx of finger - Short toe - Single transverse palmar crease - Small scrotum - Somatic mosaicism - Sparse anterior scalp hair - Sparse eyebrow - Sparse eyelashes - Stenosis of the external auditory canal - Stillbirth - Supernumerary nipple - Umbilical hernia - Ventricular septal defect - Webbed neck - 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 Heart Murmur ? Answer:

Doctors use a stethoscope to listen to heart sounds and hear heart murmurs. They may detect heart murmurs during routine checkups or while checking for another condition. If a congenital heart defect causes a murmur, it's often heard at birth or during infancy. Abnormal heart murmurs caused by other heart problems can be heard in patients of any age. Specialists Involved Primary care doctors usually refer people who have abnormal heart murmurs to cardiologists or pediatric cardiologists for further care and testing. Cardiologists are doctors who specialize in diagnosing and treating heart problems in adults. Pediatric cardiologists specialize in diagnosing and treating heart problems in children. Physical Exam Your doctor will carefully listen to your heart or your child's heart with a stethoscope to find out whether a murmur is innocent or abnormal. He or she will listen to the loudness, location, and timing of the murmur. This will help your doctor diagnose the cause of the murmur. Your doctor also may: Ask about your medical and family histories. Do a complete physical exam. He or she will look for signs of illness or physical problems. For example, your doctor may look for a bluish color on your skin. In infants, doctors may look for delayed growth and feeding problems. Ask about your symptoms, such as chest pain, shortness of breath (especially with physical exertion), dizziness, or fainting. Evaluating Heart Murmurs When evaluating a heart murmur, your doctor will pay attention to many things, such as: How faint or loud the sound is. Your doctor will grade the murmur on a scale of 1 to 6 (1 is very faint and 6 is very loud). When the sound occurs in the cycle of the heartbeat. Where the sound is heard in the chest and whether it also can be heard in the neck or back. Whether the sound has a high, medium, or low pitch. How long the sound lasts. How breathing, physical activity, or a change in body position affects the sound. Diagnostic Tests and Procedures If your doctor thinks you or your child has an abnormal heart murmur, he or she may recommend one or more of the following tests. 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. This test is done to find the cause of symptoms, such as shortness of breath and chest pain. EKG An EKG (electrocardiogram) is a simple test that detects and records the heart's electrical activity. An EKG 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. This test is used to detect and locate the source of heart problems. The results from an EKG also may be used to rule out certain heart problems. 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 shows the size and shape of your heart and how well your heart's 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. There are several types of echo, including a stress echo. This test is done both before and after a stress test. During this test, you exercise to make your heart work hard and beat fast. If you cant exercise, you may be given medicine to make your heart work hard and beat fast. Echo is used to take pictures of your heart before you exercise and as soon as you finish. Stress echo shows whether you have decreased blood flow to your heart (a sign of coronary heart disease).

Question: What are the symptoms of Primary Ciliary Dyskinesia ? Answer:

Primary ciliary dyskinesia (PCD) mainly affects the sinuses, ears, and lungs. One sign that you might have PCD is if you have chronic (ongoing) infections in one or more of these areas. Common signs, symptoms, and complications linked to PCD include the following: Sinuses: - Chronic nasal congestion - Runny nose with mucus and pus discharge - Chronic sinus infections Chronic nasal congestion Runny nose with mucus and pus discharge Chronic sinus infections Ears: - Chronic middle ear infections - Hearing loss Chronic middle ear infections Hearing loss Lungs: - Respiratory distress (breathing problems) in newborns - Chronic cough - Recurrent pneumonia - Collapse of part or all of a lung Respiratory distress (breathing problems) in newborns Chronic cough Recurrent pneumonia Collapse of part or all of a lung PCD also can cause fertility problems in men and women. "Fertility" refers to the ability to have children. In men, PCD can affect cilia-like structures that help sperm cells move. Because the sperm cells don't move well, men who have the disease usually are unable to father children. Fertility problems also occur in some women who have PCD. These problems likely are due to faulty cilia in the fallopian tubes. (The fallopian tubes carry eggs from the ovaries to the uterus.) About half of all people who have PCD have Kartagener's syndrome. This syndrome involves three disorders: chronic sinusitis (si-nu-SI-tis), bronchiectasis (brong-ke-EK-tah-sis), and situs inversus. Chronic sinusitis is a condition in which the sinuses are infected or inflamed. The sinuses are hollow air spaces around the nasal passages. Bronchiectasis is a condition in which damage to the airways causes them to widen and become flabby and scarred. Situs inversus is a condition in which the internal organs (for example, the heart, stomach, spleen, liver, and gallbladder) are in opposite positions from where they normally are. Situs inversus can occur without PCD. In fact, only 25 percent of people who have the condition also have PCD. By itself, situs inversus may not affect your health. However, in PCD, it's a sign of Kartagener's syndrome. Some people who have PCD have abnormally placed organs and congenital heart defects. When Do Symptoms Occur? The symptoms and severity of PCD vary from person to person. If you or your child has the disease, you may have serious sinus, ear, and/or lung infections. If the disease is mild, it may not show up until the teen or adult years. The symptoms and severity of PCD also vary over time. Sometimes, you may have few symptoms. Other times, your symptoms may become more severe. Some people who have PCD have breathing problems when they're born and need extra oxygen for several days. Afterward, airway infections are common. Diagnosing PCD in children can be hard. This is because some PCD symptomssuch as ear infections, chronic cough, and runny noseare common in children, even if they don't have PCD. Also, the disease may be confused with another condition, such as cystic fibrosis. A correct and early diagnosis of PCD is very important. It will allow you or your child to get the proper treatment to keep your airways and lungs as healthy as possible. An early diagnosis and proper treatment also can prevent or delay ongoing and long-term lung damage.

Question: What are the symptoms of Multiple epiphyseal dysplasia ? Answer:

What are the signs and symptoms of Multiple epiphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia. 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 cortical bone morphology 90% Abnormality of epiphysis morphology 90% Abnormality of the metaphyses 90% Abnormality of the ulna 90% Abnormality of the wrist 90% Anteverted nares 90% Aplasia/Hypoplasia of the sacrum 90% Brachydactyly syndrome 90% Delayed skeletal maturation 90% Limitation of joint mobility 90% Myopia 90% Osteoarthritis 90% Rough bone trabeculation 90% Round face 90% Sensorineural hearing impairment 90% Short palm 90% Tarsal synostosis 90% Abnormal form of the vertebral bodies 50% Abnormality of the femur 50% Abnormality of the hip bone 50% Arthralgia 50% Cleft palate 50% Clinodactyly of the 5th finger 50% Gait disturbance 50% Malar flattening 50% Micromelia 50% Patellar aplasia 50% Scoliosis 50% Short stature 50% Talipes 50% Anonychia 7.5% Genu valgum 7.5% Genu varum 7.5% Hearing abnormality 7.5% Abnormality of the hip joint - Arthralgia of the hip - Autosomal dominant inheritance - Autosomal recessive inheritance - Avascular necrosis of the capital femoral epiphysis - Broad femoral neck - Coxa vara - Delayed epiphyseal ossification - Delayed ossification of carpal bones - Delayed tarsal ossification - Disproportionate short-limb short stature - Elevated serum creatine phosphokinase - Epiphyseal dysplasia - Flat capital femoral epiphysis - Flattened epiphysis - Generalized joint laxity - Hip dysplasia - Hip osteoarthritis - Hypoplasia of the capital femoral epiphysis - Hypoplasia of the femoral head - Irregular epiphyses - Irregular vertebral endplates - Joint stiffness - Knee osteoarthritis - Limited elbow flexion - Limited hip movement - Metaphyseal irregularity - Mild short stature - Multiple epiphyseal dysplasia - Ovoid vertebral bodies - Premature osteoarthritis - Proximal muscle weakness - Short femoral neck - Short metacarpal - Short phalanx of finger - Small epiphyses - Talipes equinovarus - 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: How to prevent Alzheimer's Disease ? Answer:

Currently, no medicines or other treatments are known to prevent Alzheimers disease, but scientists are studying many possibilities. These possibilities include lifestyle factors such as exercise and physical activity, a healthy diet, and mentally stimulating activities. In addition to lifestyle factors, scientists have found clues that some long-term health conditions, like heart disease, high blood pressure, and diabetes, are related to Alzheimer's disease. Its possible that controlling these conditions will reduce the risk of developing Alzheimers. Exercise and Physical Activity Studies show that exercise and other types of physical activity are good for our hearts, waistlines, and ability to carry out everyday activities. Research suggests that exercise may also play a role in reducing risk for Alzheimers disease. Animal studies show that exercise increases both the number of small blood vessels that supply blood to the brain and the number of connections between nerve cells in older rats and mice. In addition, researchers have found that exercise raises the level of a nerve growth factor (a protein key to brain health) in an area of the brain that is important to memory and learning. See suggestions for ways older adults can start or continue to exercise. Diet and Dietary Supplements A number of studies suggest that eating certain foods may help keep the brain healthyand that others can be harmful. A diet that includes lots of fruits, vegetables, and whole grains and is low in fat and added sugar can reduce the risk of heart disease and diabetes. Researchers are looking at whether a healthy diet also can help prevent Alzheimers. One study reported that people who ate a Mediterranean diet had a 28 percent lower risk of developing MCI (mild cognitive impairment) and a 48 percent lower risk of progressing from MCI to Alzheimers disease. (MCI often, but not always, leads to Alzheimers dementia.) A Mediterranean diet includes vegetables, legumes, fruits, cereals, fish, olive oil, and low amounts of saturated fats, dairy products, meat, and poultry. For more about healthy eating as you age , see Eating Well As You Get Older. Other research has looked at the effect on brain health of several different vitamins and dietary supplements. One area of research focuses on antioxidants, natural substances that appear to fight damage caused by molecules called free radicals. Other studies are looking at resveratrol, a compound found in red grapes and red wine, as well as vitamins and other substances found in food. Chronic Diseases Age-related diseases and conditionssuch as vascular disease, high blood pressure, heart disease, and diabetesmay increase the risk of Alzheimers. Many studies are looking at whether this risk can be reduced by preventing or controlling these diseases and conditions. For example, one clinical trial is looking at how lowering blood pressure to or below current recommended levels may affect cognitive decline and the development of MCI and Alzheimers disease. Participants are older adults with high systolic (upper number) blood pressure who have a history of heart disease or stroke, or are at risk for those conditions. Diabetes is another disease that has been linked to Alzheimers. Past research suggests that abnormal insulin production contributes to Alzheimers-related brain changes. (Insulin is the hormone involved in diabetes.) Diabetes treatments have been tested in people with Alzheimers, but the results have not been conclusive. Keeping the Brain Active Keeping the mind sharpthrough social engagement or intellectual stimulationis associated with a lower risk of Alzheimers disease. Activities like working, volunteering, reading, going to lectures, and playing computer and other games are being studied to see if they might help prevent Alzheimers. One clinical trial is testing the impact of formal cognitive training, with and without physical exercise, in people with MCI to see if it can prevent or delay Alzheimers disease. Other trials are underway in healthy older adults to see if exercise and/or cognitive training (for example, a demanding video game) can delay or prevent age-related cognitive decline. Find out about things you can do that may keep your brain healthy.

Question: How to diagnose Coronary Heart Disease ? Answer:

Your doctor will diagnose coronary heart disease (CHD) based on your medical and family histories, your risk factors for CHD, 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 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 due to CHD and signs of a previous or current heart attack. 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 raise your heart rate. When your heart is working hard and beating fast, 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 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 picture shows 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 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, 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 might be a sign that you're at risk for CHD. Coronary Angiography and Cardiac Catheterization Your doctor may recommend coronary angiography (an-jee-OG-rah-fee) if other tests or factors show that you're likely to have CHD. This test uses dye and special x rays to show the insides of your coronary arteries. To get the dye into your coronary arteries, your doctor will use a procedure called cardiac 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. Cardiac catheterization usually is done in a hospital. You're awake during the procedure. It usually causes little or no pain, although you may feel some soreness in the blood vessel where your doctor inserts the catheter.

Question: What is (are) Langerhans cell histiocytosis ? Answer:

Langerhans cell histiocytosis is a disorder in which excess immune system cells called Langerhans cells build up in the body. Langerhans cells, which help regulate the immune system, are normally found throughout the body, especially in the skin, lymph nodes, spleen, lungs, liver, and bone marrow. In Langerhans cell histiocytosis, excess immature Langerhans cells usually form tumors called granulomas. However, Langerhans cell histiocytosis is not generally considered to be a form of cancer. In approximately 80 percent of affected individuals, one or more granulomas develop in the bones, causing pain and swelling. The granulomas, which usually occur in the skull or the long bones of the arms or legs, may cause the bone to fracture. Granulomas also frequently occur in the skin, appearing as blisters, reddish bumps, or rashes which can be mild to severe. The pituitary gland may also be affected; this gland is located at the base of the brain and produces hormones that control many important body functions. Without hormone supplementation, affected individuals may experience delayed or absent puberty or an inability to have children (infertility). In addition, pituitary gland damage may result in the production of excessive amounts of urine (diabetes insipidus) and dysfunction of another gland called the thyroid. Thyroid dysfunction can affect the rate of chemical reactions in the body (metabolism), body temperature, skin and hair texture, and behavior. In 15 to 20 percent of cases, Langerhans cell histiocytosis affects the lungs, liver, or blood-forming (hematopoietic) system; damage to these organs and tissues may be life-threatening. Lung involvement, which appears as swelling of the small airways (bronchioles) and blood vessels of the lungs, results in stiffening of the lung tissue, breathing problems, and increased risk of infection. Hematopoietic involvement, which occurs when the Langerhans cells crowd out blood-forming cells in the bone marrow, leads to a general reduction in the number of blood cells (pancytopenia). Pancytopenia results in fatigue due to low numbers of red blood cells (anemia), frequent infections due to low numbers of white blood cells (neutropenia), and clotting problems due to low numbers of platelets (thrombocytopenia). Other signs and symptoms that may occur in Langerhans cell histiocytosis, depending on which organs and tissues have Langerhans cell deposits, include swollen lymph nodes, abdominal pain, yellowing of the skin and whites of the eyes (jaundice), delayed puberty, protruding eyes, dizziness, irritability, and seizures. About 1 in 50 affected individuals experience deterioration of neurological function (neurodegeneration). Langerhans cell histiocytosis is often diagnosed in childhood, usually between ages 2 and 3, but can appear at any age. Most individuals with adult-onset Langerhans cell histiocytosis are current or past smokers; in about two-thirds of adult-onset cases the disorder affects only the lungs. The severity of Langerhans cell histiocytosis, and its signs and symptoms, vary widely among affected individuals. Certain presentations or forms of the disorder were formerly considered to be separate diseases. Older names that were sometimes used for forms of Langerhans cell histiocytosis include eosinophilic granuloma, Hand-Schller-Christian disease, and Letterer-Siwe disease. In many people with Langerhans cell histiocytosis, the disorder eventually goes away with appropriate treatment. It may even disappear on its own, especially if the disease occurs only in the skin. However, some complications of the condition, such as diabetes insipidus or other effects of tissue and organ damage, may be permanent.

Question: What are the symptoms of 17q23.1q23.2 microdeletion syndrome ? Answer:

What are the signs and symptoms of 17q23.1q23.2 microdeletion syndrome? 17q23.1q23.2 microdeletion syndrome is characterized by developmental delay, microcephaly, short stature, heart defects and hand, foot and limb abnormalities. All individuals reported to date have had mild to moderate developmental delay, in particular delays in speech. Most have had heart defects, including patent ductus arteriosus or atrial septal defects. Limb abnormalities include long, thin fingers and toes, and hypoplasia (underdevelopment) of the patellae (knee caps). Scoliosis may also be present. Many patients have also had mild and unspecific unusual facial features. The Human Phenotype Ontology provides the following list of signs and symptoms for 17q23.1q23.2 microdeletion 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% Cognitive impairment 90% Long toe 90% Frontal bossing 50% Intrauterine growth retardation 50% Microcephaly 50% Neurological speech impairment 50% Patent ductus arteriosus 50% Pulmonary hypertension 50% Short stature 50% Abnormality of epiphysis morphology 7.5% Abnormality of the eyelashes 7.5% Abnormality of the hip bone 7.5% Abnormality of the teeth 7.5% Atria septal defect 7.5% Behavioral abnormality 7.5% Blepharitis 7.5% Camptodactyly of toe 7.5% Clinodactyly of the 5th finger 7.5% Depressed nasal bridge 7.5% Epicanthus 7.5% Hearing impairment 7.5% Highly arched eyebrow 7.5% Hyperreflexia 7.5% Hypertelorism 7.5% Limitation of joint mobility 7.5% Low-set, posteriorly rotated ears 7.5% Malar flattening 7.5% Midline defect of the nose 7.5% Muscular hypotonia 7.5% Narrow mouth 7.5% Otitis media 7.5% Patellar aplasia 7.5% Pes planus 7.5% Respiratory insufficiency 7.5% Sacral dimple 7.5% Sandal gap 7.5% Scoliosis 7.5% Shawl scrotum 7.5% Single transverse palmar crease 7.5% Strabismus 7.5% Abnormal facial shape - Aggressive behavior - Bicuspid aortic valve - Intellectual disability, mild - Long fingers - Postnatal growth retardation - Slender finger - Small for gestational age - Sporadic - 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) Breast Cancer ? Answer:

Key Points - Breast cancer is a disease in which malignant (cancer) cells form in the tissues of the breast. - Sometimes breast cancer occurs in women who are pregnant or have just given birth. - Signs of breast cancer include a lump or change in the breast. - It may be difficult to detect (find) breast cancer early in pregnant or nursing women. - Breast exams should be part of prenatal and postnatal care. - Tests that examine the breasts are used to detect (find) and diagnose breast cancer. - If cancer is found, tests are done to study the cancer cells. - Certain factors affect prognosis (chance of recovery) and treatment options. Breast cancer is a disease in which malignant (cancer) cells form in the tissues of the breast. The breast is made up of lobes and ducts. Each breast has 15 to 20 sections called lobes. Each lobe has many smaller sections called lobules. Lobules end in dozens of tiny bulbs that can make milk. The lobes, lobules, and bulbs are linked by thin tubes called ducts. Each breast also has blood vessels and lymph vessels. The lymph vessels carry an almost colorless fluid called lymph. Lymph vessels carry lymph between lymph nodes. Lymph nodes are small bean-shaped structures that are found throughout the body. They filter substances in lymph and help fight infection and disease. Clusters of lymph nodes are found near the breast in the axilla (under the arm), above the collarbone, and in the chest. It may be difficult to detect (find) breast cancer early in pregnant or nursing women. The breasts usually get larger, tender, or lumpy in women who are pregnant, nursing, or have just given birth. This occurs because of normal hormone changes that take place during pregnancy. These changes can make small lumps difficult to detect. The breasts may also become denser. It is more difficult to detect breast cancer in women with dense breasts using mammography. Because these breast changes can delay diagnosis, breast cancer is often found at a later stage in these women. Other Information About Pregnancy and Breast Cancer Key Points - Lactation (breast milk production) and breast-feeding should be stopped if surgery or chemotherapy is planned. - Breast cancer does not appear to harm the unborn baby. - Pregnancy does not seem to affect the survival of women who have had breast cancer in the past. Lactation (breast milk production) and breast-feeding should be stopped if surgery or chemotherapy is planned. If surgery is planned, breast-feeding should be stopped to reduce blood flow in the breasts and make them smaller. Breast-feeding should also be stopped if chemotherapy is planned. Many anticancer drugs, especially cyclophosphamide and methotrexate, may occur in high levels in breast milk and may harm the nursing baby. Women receiving chemotherapy should not breast-feed. Stopping lactation does not improve the mother's prognosis. Breast cancer does not appear to harm the unborn baby. Breast cancer cells do not seem to pass from the mother to the unborn baby. Pregnancy does not seem to affect the survival of women who have had breast cancer in the past. For women who have had breast cancer, pregnancy does not seem to affect their survival. However, some doctors recommend that a woman wait 2 years after treatment for breast cancer before trying to have a baby, so that any early return of the cancer would be detected. This may affect a womans decision to become pregnant. The unborn baby does not seem to be affected if the mother has had breast cancer.

Question: How to diagnose Sudden Cardiac Arrest ? Answer:

Sudden cardiac arrest (SCA) happens without warning and requires emergency treatment. Doctors rarely diagnose SCA with medical tests as it's happening. Instead, SCA often is diagnosed after it happens. Doctors do this by ruling out other causes of a person's sudden collapse. Specialists Involved If you're at high risk for SCA, your doctor may refer you to a cardiologist. This is a doctor who specializes in diagnosing and treating heart diseases and conditions. Your cardiologist will work with you to decide whether you need treatment to prevent SCA. Some cardiologists specialize in problems with the heart's electrical system. These specialists are called cardiac electrophysiologists. Diagnostic Tests and Procedures Doctors use several tests to help detect the factors that put people at risk for SCA. 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 each part of the heart. An EKG can show evidence of heart damage due to coronary heart disease (CHD). The test also can show signs of a previous or current heart attack. Echocardiography Echocardiography, or echo, is a painless test that uses sound waves to create pictures of your heart. The test shows 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. There are several types of echo, including stress echo. This test is done both before and after a cardiac stress test. During this test, you exercise (or are given medicine if you're unable to exercise) to make your heart work hard and beat fast. Stress echo shows whether you have decreased blood flow to your heart (a sign of CHD). MUGA Test or Cardiac MRI A MUGA (multiple gated acquisition) test shows how well your heart is pumping blood. For this test, a small amount of radioactive substance is injected into a vein and travels to your heart. The substance releases energy, which special cameras outside of your body can detect. The cameras use the energy to create pictures of many parts of your heart. Cardiac MRI (magnetic resonance imaging) is a safe procedure that uses radio waves and magnets to create detailed pictures of your heart. The test creates still and moving pictures of your heart and major blood vessels. Doctors use cardiac MRI to get pictures of the beating heart and to look at the structure and function of the heart. Cardiac Catheterization Cardiac catheterization is a procedure used to diagnose and treat certain heart conditions. A long, thin, flexible tube called a catheter is put into a blood vessel in your arm, groin (upper thigh), or neck and threaded to your heart. Through the catheter, your doctor can do diagnostic tests and treatments on your heart. Sometimes dye is put into the catheter. The dye will flow through your bloodstream to your heart. The dye makes your coronary (heart) arteries visible on x-ray pictures. The dye can show whether plaque has narrowed or blocked any of your coronary arteries. Electrophysiology Study For an electrophysiology study, doctors use cardiac catheterization to record how your heart's electrical system responds to certain medicines and electrical stimulation. This helps your doctor find where the heart's electrical system is damaged. Blood Tests Your doctor may recommend blood tests to check the levels of potassium, magnesium, and other chemicals in your blood. These chemicals play an important role in your heart's electrical signaling.

Question: What is (are) Fanconi Anemia ? Answer:

Fanconi anemia (fan-KO-nee uh-NEE-me-uh), or FA, is a rare, inherited blood disorder that leads to bone marrow failure. The disorder also is called Fanconis anemia. FA prevents your bone marrow from making enough new blood cells for your body to work normally. FA also can cause your bone marrow to make many faulty blood cells. This can lead to serious health problems, such as leukemia (a type of blood cancer). Although FA is a blood disorder, it also can affect many of your body's organs, tissues, and systems. Children who inherit FA are at higher risk of being born with birth defects. FA also increases the risk of some cancers and other serious health problems. FA is different from Fanconi syndrome. Fanconi syndrome affects the kidneys. It's a rare and serious condition that mostly affects children. Children who have Fanconi syndrome pass large amounts of key nutrients and chemicals through their urine. These children may have serious health and developmental problems. Bone Marrow and Blood Bone marrow is the spongy tissue inside the large bones of your body. Healthy bone marrow contains stem cells that develop into the three types of blood cells that the body needs: Red blood cells, which carry oxygen to all parts of your body. Red blood cells also remove carbon dioxide (a waste product) from your body's cells and carry it to the lungs to be exhaled. White blood cells, which help fight infections. Platelets (PLATE-lets), which help your blood clot. It's normal for blood cells to die. The lifespan of red blood cells is about 120 days. White blood cells live less than 1 day. Platelets live about 6 days. As a result, your bone marrow must constantly make new blood cells. If your bone marrow can't make enough new blood cells to replace the ones that die, serious health problems can occur. Fanconi Anemia and Your Body FA is one of many types of anemia. The term "anemia" usually refers to a condition in which the blood has a lower than normal number of red blood cells. FA is a type of aplastic anemia. In aplastic anemia, the bone marrow stops making or doesn't make enough of all three types of blood cells. Low levels of the three types of blood cells can harm many of the body's organs, tissues, and systems. With too few red blood cells, your body's tissues won't get enough oxygen to work well. With too few white blood cells, your body may have problems fighting infections. This can make you sick more often and make infections worse. With too few platelets, your blood cant clot normally. As a result, you may have bleeding problems. Outlook People who have FA have a greater risk than other people for some cancers. About 10percent of people who have FA develop leukemia. People who have FA and survive to adulthood are much more likely than others to develop cancerous solid tumors. The risk of solid tumors increases with age in people who have FA. These tumors can develop in the mouth, tongue, throat, or esophagus (eh-SOF-ah-gus). (The esophagus is the passage leading from the mouth to the stomach.) Women who have FA are at much greater risk than other women of developing tumors in the reproductive organs. FA is an unpredictable disease. The average lifespan for people who have FA is between 20 and 30 years. The most common causes of death related to FA are bone marrow failure, leukemia, and solid tumors. Advances in care and treatment have improved the chances of surviving longer with FA. Blood and marrow stem cell transplant is the major advance in treatment. However, even with this treatment, the risk of some cancers is greater in people who have FA.

Question: How to diagnose Sarcoidosis ? Answer:

Your doctor will diagnose sarcoidosis based on your medical history, a physical exam, and test results. He or she will look for granulomas (inflamed lumps) in your organs. Your doctor also will try to rule out other possible causes of your symptoms. Medical History Your doctor may ask you detailed questions about your medical history. For example, he or she may ask whether you: Have a family history of sarcoidosis. Have had any jobs that may have raised your risk for the disease. Have ever been exposed to inhaled beryllium metal. (This type of metal is used to make aircrafts and weapons.) Have had contact with organic dust from birds or hay. Exposure to beryllium metal and organic dust can cause inflamed lumps in your lungs that look like the granulomas from sarcoidosis. However, these lumps are signs of other conditions. Physical Exam Your doctor will check you for signs and symptoms of sarcoidosis. Signs and symptoms may include red bumps on your skin; swollen lymph nodes; an enlarged liver, spleen, or salivary glands; or redness in your eyes. Your doctor also will check for other causes of your symptoms. Your doctor may listen to your lungs and heart. Abnormal breathing or heartbeat sounds could be a sign that sarcoidosis is affecting your lungs or heart. Diagnostic Tests You may have tests to confirm a diagnosis and to find out how sarcoidosis is affecting you. Tests include a chest x ray, lung function tests, biopsy, and other tests to assess organ damage. Chest X Ray A chest x ray is a painless test that creates pictures of the structures inside your chest, such as your heart and lungs. The test may show granulomas or enlarged lymph nodes in your chest. About 95 percent of people who have sarcoidosis have abnormal chest xrays. 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 sarcoidosis is affecting your lungs. Biopsy Your doctor may do a biopsy to confirm a diagnosis or rule out other causes of your symptoms. A biopsy involves taking a small sample of tissue from one of your affected organs. Usually, doctors try to biopsy the organs that are easiest to access. Examples include the skin, tear glands, or the lymph nodes that are just under the skin. If this isn't possible, your doctor may use a positron emission tomography (PET) scan to pinpoint areas for biopsy. For this test, a small amount of radioactive substance is injected into a vein, usually in your arm. The substance, which releases energy, travels through the blood and collects in organs or tissues. Special cameras detect the energy and convert it into three-dimensional (3D) pictures. If lung function tests or a chest x ray shows signs of sarcoidosis in your lungs, your doctor may do a bronchoscopy (bron-KOS-ko-pee) to get a small sample of lung tissue. During this procedure, a thin, flexible tube is passed through your nose (or sometimes your mouth), down your throat, and into the airways to reach your lung tissue. (For more information, go to the Health Topics Bronchoscopy article.) Other Tests To Assess Organ Damage You also may have other tests to assess organ damage and find out whether you need treatment. For example, your doctor may recommend blood tests and/or an EKG (electrocardiogram). If youre diagnosed with sarcoidosis, you should see an ophthalmologist (eye specialist), even if you dont have eye symptoms. In sarcoidosis, eye damage can occur without symptoms.

Question: What are the symptoms of Congenital contractural arachnodactyly ? Answer:

What are the signs and symptoms of Congenital contractural arachnodactyly? Congenital contractural arachnodactyly represents a broad spectrum of characteristics. The features are quite variable, both within and between families. The classic form is characterized by a Marfan-like appearance (tall and slender with arm span exceeding height), arachnodactyly (long slender fingers and toes), 'crumpled' ears, contractures of major joints from birth (particularly knees, elbows, fingers, toes, and hips), bowed long bones, muscular hypoplasia (underdeveloped muscles), kyphosis/scoliosis, aortic root dilation, and various craniofacial abnormalities (such as micrognathia, high arched palate, scaphocephaly (premature fusion of the sagittal suture of the skull leading to a long, narrow head), brachycephaly (premature fusion of the coronal suture, leading to a short skull), and frontal bossing). At the most severe end of the spectrum is a rare type with very few reported cases. In addition to the typical skeletal findings (arachnodactyly, joint contractures, scoliosis) and abnormally shaped ears, infants with the severe/lethal form have multiple cardiovascular and gastrointestinal abnormalities. The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital contractural arachnodactyly. 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 helix 90% Abnormality of the palate 90% Arachnodactyly 90% Camptodactyly of finger 90% Disproportionate tall stature 90% External ear malformation 90% Elbow flexion contracture 86% Knee flexion contracture 81% Crumpled ear 78% Kyphoscoliosis 45% Talipes equinovarus 32% Hip contracture 25% Abnormality of the mitral valve 7.5% Aortic dilatation 7.5% Duodenal stenosis 7.5% Ectopia lentis 7.5% Intestinal malrotation 7.5% Tracheoesophageal fistula 7.5% Adducted thumb - Aortic root dilatation - Atria septal defect - Autosomal dominant inheritance - Bicuspid aortic valve - Brachycephaly - Calf muscle hypoplasia - Congenital kyphoscoliosis - Distal arthrogryposis - Dolichocephaly - Frontal bossing - High palate - Mitral regurgitation - Mitral valve prolapse - Motor delay - Myopia - Osteopenia - Patellar dislocation - Patellar subluxation - Patent ductus arteriosus - Pectus carinatum - Short neck - Ulnar deviation of finger - 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: how vaccines prevent disease Answer:

Why Are Childhood Vaccines So Important? It is always better to prevent a disease than to treat it after it occurs. Diseases that used to be common in this country and around the world, including polio, measles, diphtheria, pertussis (whooping cough), rubella (German measles), mumps, tetanus, rotavirus and Haemophilus influenzae type b (Hib) can now be prevented by vaccination. Thanks to a vaccine, one of the most terrible diseases in history – smallpox – no longer exists outside the laboratory. Over the years vaccines have prevented countless cases of disease and saved millions of lives. Immunity Protects us From Disease Immunity is the body’s way of preventing disease. Children are born with an immune system composed of cells, glands, organs, and fluids located throughout the body. The immune system recognizes germs that enter the body as "foreign invaders” (called antigens) and produces proteins called antibodies to fight them. The first time a child is infected with a specific antigen (say measles virus), the immune system produces antibodies designed to fight it. This takes time . . . usually the immune system can’t work fast enough to prevent the antigen from causing disease, so the child still gets sick. However, the immune system “remembers” that antigen. If it ever enters the body again, even after many years, the immune system can produce antibodies fast enough to keep it from causing disease a second time. This protection is called immunity. It would be nice if there were a way to give children immunity to a disease without their having to get sick first. In fact there is: Vaccines contain the same antigens (or parts of antigens) that cause diseases. For example, measles vaccine contains measles virus. But the antigens in vaccines are either killed, or weakened to the point that they don’t cause disease. However, they are strong enough to make the immune system produce antibodies that lead to immunity. In other words, a vaccine is a safer substitute for a child’s first exposure to a disease. The child gets protection without having to get sick. Through vaccination, children can develop immunity without suffering from the actual diseases that vaccines prevent. Top of Page More Facts Newborn babies are immune to many diseases because they have antibodies they got from their mothers. However, this immunity goes away during the first year of life. If an unvaccinated child is exposed to a disease germ, the child's body may not be strong enough to fight the disease. Before vaccines, many children died from diseases that vaccines now prevent, such as whooping cough, measles, and polio. Those same germs exist today, but because babies are protected by vaccines, we don’t see these diseases nearly as often. Immunizing individual children also helps to protect the health of our community, especially those people who cannot be immunized (children who are too young to be vaccinated, or those who can’t receive certain vaccines for medical reasons), and the small proportion of people who don’t respond to a particular vaccine. Vaccine-preventable diseases have a costly impact, resulting in doctor's visits, hospitalizations, and premature deaths. Sick children can also cause parents to lose time from work. Related Pages Why Immunize? Vaccines: A Safe Choice Parents Guide to Immunizations For Parents: How Vaccines Prevent Diseases Top of Page Images and logos on this website which are trademarked/copyrighted or used with permission of the trademark/copyright or logo holder are not in the public domain. These images and logos have been licensed for or used with permission in the materials provided on this website. The materials in the form presented on this website may be used without seeking further permission. Any other use of trademarked/copyrighted images or logos requires permission from the trademark/copyright holder...more This graphic notice means that you are leaving an HHS Web site. For more information, please see the Exit Notification and Disclaimer policy.

Question: How to diagnose Urine Blockage in Newborns ? Answer:

Defects of the urinary tract may be diagnosed before or after the baby is born. Diagnosis before Birth Tests during pregnancy can help determine if the baby is developing normally in the womb. - Ultrasound. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. A prenatal ultrasound can show internal organs within the baby. 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, or - an obstetriciana doctor who delivers babies The images can show enlarged kidneys, ureters, or bladders in babies. - Amniocentesis. Amniocentesis is a procedure in which amniotic fluid is removed from the mothers womb for testing. The procedure can be performed in the health care providers office, and local anesthetic may be used. The health care provider inserts a thin needle through the abdomen into the uterus to obtain a small amount of amniotic fluid. Cells from the fluid are grown in a lab and then analyzed. The health care provider usually uses ultrasound to find the exact location of the baby. The test can show whether the baby has certain birth defects and how well the babys lungs are developing. - Chorionic villus sampling (CVS). CVS is the removal of a small piece of tissue from the placenta for testing. The procedure can be performed in the health care providers office; anesthesia is not needed. The health care provider uses ultrasound to guide a thin tube or needle through the vagina or abdomen into the placenta. Cells are removed from the placenta and then analyzed. The test can show whether the baby has certain genetic defects. Most healthy women do not need all of these tests. Ultrasound exams during pregnancy are routine. Amniocentesis and CVS are recommended only when a risk of genetic problems exists because of family history or a problem is detected during an ultrasound. Amniocentesis and CVS carry a slight risk of harming the baby and mother or ending the pregnancy in miscarriage, so the risks should be carefully considered. Diagnosis after Birth Different imaging techniques can be used in infants and children to determine the cause of urine blockage. - Ultrasound. Ultrasound can be used to view the childs urinary tract. For infants, the image is clearer than could be achieved while the baby was in the womb. - Voiding cystourethrogram (VCUG). VCUG is an x-ray image of the bladder and urethra taken while the bladder is full and during urination, also called voiding. The procedure is performed in an outpatient center or hospital by an x-ray technician supervised by a radiologist, who then interprets the images. While anesthesia is not needed, sedation may be used for some children. 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-ray machine captures images of the contrast medium while the bladder is full and when the child urinates. The test can show reflux or blockage of the bladder due to an obstruction, such as PUV. - Radionuclide scan. A radionuclide scan is an imaging technique that detects small amounts of radiation after a person is injected with radioactive chemicals. The dose of the radioactive chemicals is small; therefore, the risk of causing damage to cells is low. Radionuclide scans are performed in an outpatient center or hospital by a specially trained technician, and the images are interpreted by a radiologist. Anesthesia is not needed. Special cameras and computers are used to create images of the radioactive chemicals as they pass through the kidneys. Radioactive chemicals injected into the blood can provide information about kidney function.

Question: What are the symptoms of Microphthalmia syndromic 7 ? Answer:

What are the signs and symptoms of Microphthalmia syndromic 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 7. 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) Aplasia/Hypoplasia affecting the eye 90% Aplasia/Hypoplasia of the skin 90% Congenital diaphragmatic hernia 90% Irregular hyperpigmentation 90% Malar flattening 90% Opacification of the corneal stroma 90% Sclerocornea 90% Abnormal facial shape 50% Abnormality of retinal pigmentation 50% Abnormality of the cardiac septa 50% Abnormality of the nose 50% Abnormality of the vitreous humor 50% Arrhythmia 50% Hypertrophic cardiomyopathy 50% Hypopigmented skin patches 50% Short stature 50% Intellectual disability, progressive 24% Abnormality of dental enamel 7.5% Abnormality of female internal genitalia 7.5% Abnormality of the gastrointestinal tract 7.5% Abnormality of the mitral valve 7.5% Abnormality of the nail 7.5% Abnormality of the testis 7.5% Abnormality of the tricuspid valve 7.5% Anterior creases of earlobe 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Chorioretinal abnormality 7.5% Cognitive impairment 7.5% Displacement of the external urethral meatus 7.5% Female pseudohermaphroditism 7.5% Glaucoma 7.5% Hearing impairment 7.5% Hydrocephalus 7.5% Male pseudohermaphroditism 7.5% Microcephaly 7.5% Neurological speech impairment 7.5% Posterior embryotoxon 7.5% Respiratory insufficiency 7.5% Sacral dimple 7.5% Seizures 7.5% Visual impairment 7.5% Abnormality of metabolism/homeostasis - Absent septum pellucidum - Agenesis of corpus callosum - Anal atresia - Anteriorly placed anus - Asymmetric, linear skin defects - Atria septal defect - Cataract - Chordee - Clitoral hypertrophy - Colpocephaly - Hypoplasia of the uterus - Hypospadias - Iris coloboma - Micropenis - Microphthalmia - Oncocytic cardiomyopathy - Overriding aorta - Ovotestis - Pigmentary retinopathy - Ventricular septal defect - 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: What are the symptoms of Primrose syndrome ? Answer:

What are the signs and symptoms of Primrose syndrome? Signs and symptoms of primrose syndrome that have been reported in the literature include: Severe learning disabilities Boney ear cartilage Cystic changes in to top of the arm and leg bones Cataracts (clouding of the lens of the eyes) Recurrent ear infections Hearing loss Pogressive ataxia (uncoordinated movement) often with onset in Pyramidal signs (which shows there is a problem with the nervous system) Muscle wasting of the lower limbs Torus palatinus (a hard bony growth in the roof of the mouth) Brain calcification (mineral deposits in the brain) Sparse hair Unique facial features (e.g., deep-set eyes, protruding lower jaw, droopy eyelids) Schizophrenia and a germ cell tumor was also reported in isolated cases. The Human Phenotype Ontology provides the following list of signs and symptoms for Primrose 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) Abnormal form of the vertebral bodies 90% Abnormality of the hip bone 90% Abnormality of the palate 90% Anemia 90% Bone cyst 90% Calcification of the auricular cartilage 90% Cataract 90% Cognitive impairment 90% Conductive hearing impairment 90% Developmental regression 90% Gait disturbance 90% Hydrocephalus 90% Kyphosis 90% Macrotia 90% Myopathy 90% Osteolysis 90% Scoliosis 90% Abnormality of the testis 50% Anonychia 50% Gynecomastia 50% Malar flattening 50% Narrow chest 50% Pectus excavatum 50% Plagiocephaly 50% Seizures 50% Short stature 50% Synophrys 50% Aggressive behavior 5% Autism 5% Bilateral cryptorchidism 5% Cerebral calcification 5% Self-injurious behavior 5% Absent axillary hair - Absent facial hair - Basilar impression - Brachycephaly - Broad forehead - Deeply set eye - Distal amyotrophy - Generalized osteoporosis - Genu valgum - Hearing impairment - Hip contracture - Hypoplasia of midface - Hypoplasia of the corpus callosum - Hypoplasia of the maxilla - Intellectual disability - Irregular vertebral endplates - Knee flexion contracture - Macrocephaly - Muscular hypotonia - Narrow iliac wings - Neurodegeneration - Pes cavus - Posterior polar cataract - Posterior scalloping of vertebral bodies - Ptosis - Short distal phalanx of finger - Sporadic - Superiorly displaced ears - Thick lower lip vermilion - Truncal obesity - 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 Respiratory Failure ? Answer:

Treatment for respiratory failure depends on whether the condition is acute (short-term) or chronic (ongoing) and its severity. Treatment also depends on the condition's underlying cause. Acute respiratory failure can be a medical emergency. It often is treated in an intensive care unit at a hospital. Chronic respiratory failure often can be treated at home. If chronic respiratory failure is severe, your doctor may recommend treatment in a long-term care center. One of the main goals of treating respiratory failure is to get oxygen to your lungs and other organs and remove carbon dioxide from your body. Another goal is to treat the underlying cause of the condition. Oxygen Therapy and Ventilator Support If you have respiratory failure, you may receive oxygen therapy. Extra oxygen is given through a nasal cannula (two small plastic tubes, or prongs, that are placed in both nostrils) or through a mask that fits over your nose and mouth. Oxygen Therapy Oxygen also can be given through a tracheostomy (TRA-ke-OS-to-me). This is a surgically made hole that goes through the front of your neck and into your windpipe. A breathing tube, also called a tracheostomy or trach tube, is placed in the hole to help you breathe. Tracheostomy If the oxygen level in your blood doesn't increase, or if you're still having trouble breathing, your doctor may recommend a ventilator. A ventilator is a machine that supports breathing. It blows airor air with increased amounts of oxygeninto your airways and then your lungs. Ventilator Your doctor will adjust the ventilator as needed. This will help your lungs get the right amount of oxygen. It also can prevent the machine's pressure from injuring your lungs. You'll use the ventilator until you can breathe on your own. Other Treatments To Help You Breathe Noninvasive positive pressure ventilation (NPPV) and a rocking bed are two methods that can help you breathe better while you sleep. These methods are very useful for people who have chronic respiratory failure. NPPV is a treatment that uses mild air pressure to keep your airways open while you sleep. You wear a mask or other device that fits over your nose or your nose and mouth. A tube connects the mask to a machine, which blows air into the tube. CPAP (continuous positive airway pressure) is one type of NPPV. For more information, go to the Health Topics CPAP article. Although the article focuses on CPAP treatment for sleep apnea, it explains how CPAP works. A rocking bed consists of a mattress on a motorized platform. The mattress gently rocks back and forth. When your head rocks down, the organs in your abdomen and your diaphragm (the main muscle used for breathing) slide up, helping you exhale. When your head rocks up, the organs in your abdomen and your diaphragm slide down, helping you inhale. Fluids You may be given fluids to improve blood flow throughout your body and to provide nutrition. Your doctor will make sure you get the right amount of fluids. Too much fluid can fill the lungs and make it hard for you to get the oxygen you need. Not enough fluid can limit the flow of oxygen-rich blood to the body's organs. Fluids usually are given through an intravenous (IV) line inserted in one of your blood vessels. Medicines Your doctor may prescribe medicines to relieve discomfort. Treatments for the Underlying Cause of Respiratory Failure Once your doctor figures out what's causing your respiratory failure, he or she will plan how to treat that disease or condition. Treatments may include medicines, procedures, and other therapies.

Question: What are the symptoms of MECP2 duplication syndrome ? Answer:

What are the signs and symptoms of MECP2 duplication syndrome? MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Infants affected by this condition are generally diagnosed with severe hypotonia within the first few weeks of life. This reduced muscle tone can lead to feeding difficulties which may require a feeding tube. Trouble swallowing, gastroesophageal reflux, failure to thrive, and extensive drooling are also common symptoms. Distinctive physical features may be noticed shortly after birth which can include brachycephaly (abnormally flat back of the head), midface hypoplasia (underdevelopment of the middle of the face), large ears, deep-set eyes, prominent chin, and a depressed nasal bridge. Due to hypotonia, affected children often have delayed development of motor milestones such as sitting up and crawling. Approximately, one third of affected people never walk independently and those who are able to walk may have an abnormal gait (style of walking). In most cases, hypotonia gives way to spasticity during childhood. Progressive spasticity, which is generally more pronounced in the legs, may lead to the development of mild contractures. Consequently, many affected adults require the use of a wheelchair. The majority of affected people do not develop the ability to talk. Some may have limited speech during early childhood, but frequently this ability is progressively lost during adolescence. Other signs and symptoms associated with MECP2 duplication syndrome may include seizures; autistic features; clinically significant constipation and bladder dysfunction. Many people affected by MECP2 duplication syndrome have recurrent respiratory tract infections. These respiratory infections can be life-threatening and as a result, approximately half of affected people succumb by age 25. In most cases, females with a duplication of the MECP2 gene do not have any symptoms, although depression, anxiety, and autistic features have been described in some. When affected, women with MECP2 duplication syndrome are generally less severely affected than males with the condition. The Human Phenotype Ontology provides the following list of signs and symptoms for MECP2 duplication 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 metabolism/homeostasis - Abnormality of the teeth - Absent speech - Anxiety - Ataxia - Brachycephaly - Bruxism - Chorea - Constipation - Cryptorchidism - Depressed nasal bridge - Depression - Drooling - Dysphagia - Facial hypotonia - Flat midface - Gastroesophageal reflux - Infantile muscular hypotonia - Intellectual disability - Low-set ears - Macrocephaly - Macrotia - Malar flattening - Microcephaly - Narrow mouth - Poor eye contact - Progressive - Progressive spasticity - Recurrent respiratory infections - Rigidity - Seizures - Severe global developmental delay - Tented upper lip vermilion - X-linked recessive 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: What are the stages of Childhood Soft Tissue Sarcoma ? Answer:

Key Points - After childhood soft tissue sarcoma has been diagnosed, tests are done to find out if cancer cells have spread 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. After childhood soft tissue sarcoma has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body. The process used to find out if cancer has spread within the soft tissue or to other parts of the body is called staging. There is no standard staging system for childhood soft tissue sarcoma. In order to plan treatment, it is important to know the type of soft tissue sarcoma, whether the tumor can be removed by surgery, and whether cancer has spread to other parts of the body. The following procedures may be used to find out if cancer has spread: - Sentinel lymph node biopsy: A sentinel lymph node biopsy is done to check if cancer has spread to the lymph nodes. 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 small amount of a radioactive substance and/or blue dye is injected near the tumor. The radioactive 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. This procedure is used for epithelioid and clear cell sarcoma. - PET scan: 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. This procedure is also called positron emission tomography (PET) scan. - PET-CT scan: A procedure that combines the pictures from a 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. 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 soft tissue sarcoma spreads to the lung, the cancer cells in the lung are soft tissue sarcoma cells. The disease is metastatic soft tissue sarcoma, not lung cancer.

Question: What are the symptoms of I cell disease ? Answer:

What are the signs and symptoms of I cell disease? The Human Phenotype Ontology provides the following list of signs and symptoms for I cell disease. 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 thorax 90% Coarse facial features 90% Cognitive impairment 90% Corneal erosion 90% Hepatomegaly 90% Hernia 90% Hypertrichosis 90% Morphological abnormality of the central nervous system 90% Short stature 90% Splenomegaly 90% Anteverted nares 50% Depressed nasal bridge 50% Epicanthus 50% Lack of skin elasticity 50% Long philtrum 50% Thin skin 50% Abnormality of the heart valves 7.5% Abnormality of the wrist 7.5% Broad alveolar ridges 7.5% Cavernous hemangioma 7.5% Congestive heart failure 7.5% Corneal dystrophy 7.5% Kyphosis 7.5% Recurrent respiratory infections 7.5% Weight loss 7.5% Abnormality of the rib cage - Aortic regurgitation - Atlantoaxial dislocation - Autosomal recessive inheritance - Beaking of vertebral bodies T12-L3 - Bullet-shaped phalanges of the hand - Cardiomegaly - Carpal bone hypoplasia - Death in childhood - Deficiency of N-acetylglucosamine-1-phosphotransferase - Diastasis recti - Failure to thrive - Flared iliac wings - Flat acetabular roof - Heart murmur - High forehead - Hip dislocation - Hoarse voice - Hypertrophic cardiomyopathy - Hypoplasia of the odontoid process - Hypoplastic scapulae - Increased serum beta-hexosaminidase - Increased serum iduronate sulfatase activity - Inguinal hernia - Large sella turcica - Lower thoracic interpediculate narrowness - Macroglossia - Megalocornea - Metaphyseal widening - Mucopolysacchariduria - Myelopathy - Narrow forehead - Neonatal hypotonia - Opacification of the corneal stroma - Osteopenia - Ovoid vertebral bodies - Palpebral edema - Pathologic fracture - Progressive alveolar ridge hypertropy - Protuberant abdomen - Recurrent bronchitis - Recurrent otitis media - Recurrent pneumonia - Severe global developmental delay - Severe postnatal growth retardation - Short long bone - Sparse eyebrow - Split hand - Talipes equinovarus - Thickened calvaria - Thoracolumbar kyphoscoliosis - Umbilical hernia - Varus deformity of humeral neck - 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: How to diagnose Oropharyngeal Cancer ? Answer:

Tests that examine the mouth and throat are used to help detect (find), diagnose, and stage oropharyngeal cancer. 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 swollen lymph nodes in the neck or anything else that seems unusual. The medical doctor or dentist does a complete exam of the mouth and neck and looks under the tongue and down the throat with a small, long-handled mirror to check for abnormal areas. An exam of the eyes may be done to check for vision problems that are caused by nerves in the head and neck. A history of the patients health habits and past illnesses and treatments will also be taken. - 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 with the same machine. The combined scans give more detailed pictures of areas inside the body than either scan gives by itself. A PET-CT scan may be used to help diagnose disease, such as cancer, plan treatment, or find out how well treatment is working. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the head and neck, 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. - 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. - 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). - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. A fine-needle biopsy is usually done to remove a sample of tissue using a thin needle. The following procedures may be used to remove samples of cells or tissue: - Endoscopy : A procedure to look at organs and tissues inside the body to check for abnormal areas. An endoscope is inserted through an incision (cut) in the skin or opening in the body, such as the mouth or nose. An endoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove abnormal tissue or lymph node samples, which are checked under a microscope for signs of disease. The nose, throat, back of the tongue, esophagus, stomach, larynx, windpipe, and large airways will be checked. The type of endoscopy is named for the part of the body that is being examined. For example, pharyngoscopy is an exam to check the pharynx. - Laryngoscopy : A procedure in which the doctor checks the larynx with a mirror or with a laryngoscope. A laryngoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove abnormal tissue or lymph node samples, which are checked under a microscope for signs of disease. If cancer is found, the following test may be done to study the cancer cells: - HPV test (human papillomavirus test): A laboratory test used to check the sample of tissue for certain types of HPV infection. This test is done because oropharyngeal cancer can be caused by HPV.

Question: What are the treatments for Psoriasis ? Answer:

The goals of psoriasis treatment are to change the course of the disease by interfering with the increased production of skin cells, and to remove scales and smooth rough skin. There are many types of treatments. Many are medicines and other treatments your doctor will have to prescribe. But there are other types of treatments you can buy without a prescription or try on your own. Some treatments for psoriasis are applied directly to the skin. Some use light to treat skin lesions. Others are taken by mouth or injected. This chapter focuses on treatments that are applied directly to the skin -- also called topical treatments or light therapy. Topical Treatments Here are some different types of topical treatments for psoriasis. - helps soften and loosen skin scales - comes as a cream, lotion, liquid, gel, ointment or shampoo. helps soften and loosen skin scales comes as a cream, lotion, liquid, gel, ointment or shampoo. - reduce inflammation and slow the growth and build-up of skin cells - are used in different strengths for different parts of the body. reduce inflammation and slow the growth and build-up of skin cells are used in different strengths for different parts of the body. - works by slowing the production of skin cells - is often combined with a steroid for added effects - may be used with UVB light. works by slowing the production of skin cells is often combined with a steroid for added effects may be used with UVB light. - is used to treat long-term psoriasis and hard-to-treat plaques - reduces inflammation - slows down the growth of skin cells. is used to treat long-term psoriasis and hard-to-treat plaques reduces inflammation slows down the growth of skin cells. - cause the skin to shed dead cells - slow the growth of skin cells - decrease itching. cause the skin to shed dead cells slow the growth of skin cells decrease itching. - are believed to work by reducing skin cell overgrowth - decrease inflammation - are often used with other treatments. are believed to work by reducing skin cell overgrowth decrease inflammation are often used with other treatments. - slow down the growth of skin cells - may be used with steroid creams for added effects. slow down the growth of skin cells may be used with steroid creams for added effects. Regardless of the topical medication your doctor prescribes, it is important to follow directions carefully. Some can be messy and stain your clothing and bedding. Others can have potentially dangerous side effects. Light Therapy Light therapy, also called phototherapy, uses ultraviolet light to treat skin lesions. Laser therapy delivers intense, focused doses of light to specific areas of the skin to clear lesions without harming surrounding tissues. Here are some different kinds of light therapy. UVB phototherapy - penetrates the skin to slow the growth of affected cells - is given at home or at the doctors office - may be combined with topical treatments or injected or oral medicines to increase effectiveness. penetrates the skin to slow the growth of affected cells is given at home or at the doctors office may be combined with topical treatments or injected or oral medicines to increase effectiveness. Excimer laser - targets select areas of skin with a beam of high-intensity UVB light - is used to treat chronic, localized psoriasis plaques - may take 4 to 10 sessions to see results . targets select areas of skin with a beam of high-intensity UVB light is used to treat chronic, localized psoriasis plaques may take 4 to 10 sessions to see results . Pulsed dye laser - uses a dye and different wavelength of light from other skin treatments - destroys tiny blood vessels that help psoriasis lesions form - may take 4 to 6 sessions to clear treated lesions. uses a dye and different wavelength of light from other skin treatments destroys tiny blood vessels that help psoriasis lesions form may take 4 to 6 sessions to clear treated lesions.

Question: What are the treatments for Osteoporosis ? Answer:

Several medications are approved by the Food and Drug Administration for the treatment of osteoporosis. Since all medications have side effects, it is important to talk to your doctor about which medication is right for you. Bisphosphonates. Several bisphosphonates are approved for the prevention or treatment of osteoporosis. These medications reduce the activity of cells that cause bone loss. - Side effects of taking oral bisphosphonates may include nausea, heartburn, and stomach pain, including serious digestive problems if they are not taken properly. Side effects of taking oral bisphosphonates may include nausea, heartburn, and stomach pain, including serious digestive problems if they are not taken properly. - A few people have muscle, bone, or joint pain while using these medicines. A few people have muscle, bone, or joint pain while using these medicines. - Side effects of intravenous bisphosphonates may include flu-like symptoms such as fever, pain in muscles or joints, and headaches. These symptoms usually stop after a few days. In rare cases, deterioration of the jawbone or an unusual type of broken bone in the femur (thigh bone) has occurred in people taking bisphosphonates. Side effects of intravenous bisphosphonates may include flu-like symptoms such as fever, pain in muscles or joints, and headaches. These symptoms usually stop after a few days. In rare cases, deterioration of the jawbone or an unusual type of broken bone in the femur (thigh bone) has occurred in people taking bisphosphonates. - The Food and Drug Administration recommends that health care professionals consider periodic reevaluation of the need for continued bisphosphonate therapy, particularly for patients who have been on bisphosphonates for longer than 5 years. The Food and Drug Administration recommends that health care professionals consider periodic reevaluation of the need for continued bisphosphonate therapy, particularly for patients who have been on bisphosphonates for longer than 5 years. Parathyroid hormone. A form of human parathyroid hormone (PTH) is approved for postmenopausal women and men with osteoporosis who are at high risk for having a fracture. Use of the drug for more than 2 years is not recommended. RANK ligand (RANKL) inhibitor. A RANK ligand (RANKL) inhibitor is approved for postmenopausal women with osteoporosis who are at high risk for fracture Estrogen agonists/antagonists. An estrogen agonist/ antagonist (also called a selective estrogen receptor modulator or SERM) is approved for the prevention and treatment of osteoporosis in postmenopausal women. SERMs are not estrogens, but they have estrogen-like effects on some tissues and estrogen-blocking effects on other tissues. Calcitonin. Calcitonin is approved for the treatment of osteoporosis in women who are at least 5 years beyond menopause. Calcitonin is a hormone involved in calcium regulation and bone metabolism. Estrogen and hormone therapy. Estrogen is approved for the treatment of menopausal symptoms and osteoporosis in women after menopause. - Because of recent evidence that breast cancer, strokes, blood clots, and heart attacks may be increased in some women who take estrogen, the Food and Drug Administration recommends that women take the lowest effective dose for the shortest period possible. Estrogen should only be considered for women at significant risk for osteoporosis, and nonestrogen medications should be carefully considered first. Because of recent evidence that breast cancer, strokes, blood clots, and heart attacks may be increased in some women who take estrogen, the Food and Drug Administration recommends that women take the lowest effective dose for the shortest period possible. Estrogen should only be considered for women at significant risk for osteoporosis, and nonestrogen medications should be carefully considered first.

Question: How to diagnose Heart Block ? Answer:

Heart block might be diagnosed as part of a routine doctor's visit or during an emergency situation. (Third-degree heart block often is an emergency.) Your doctor will diagnose heart block based on your family and medical histories, a physical exam, and test results. Specialists Involved Your primary care doctor might be involved in diagnosing heart block. However, if you have the condition, you might need to see a heart specialist. Heart specialists include: Cardiologists (doctors who diagnose and treat adults who have heart problems) Pediatric cardiologists (doctors who diagnose and treat babies and children who have heart problems) Electrophysiologists (cardiologists or pediatric cardiologists who specialize in the heart's electrical system) Family and Medical Histories Your doctor may ask whether: You have any signs or symptoms of heart block You have any health problems, such as heart disease Any of your family members have been diagnosed with heart block or other health problems You're taking any medicines, including herbal products and prescription and over-the-counter medicines You smoke or use alcohol or drugs Your doctor also may ask about other health habits, such as how physically active you are. Physical Exam During the physical exam, your doctor will listen to your heart. He or she will listen carefully for abnormal rhythms or heart murmurs (extra or unusual sounds heard during heartbeats). Your doctor also may: Check your pulse to find out how fast your heart is beating Check for swelling in your legs or feet, which could be a sign of an enlarged heart or heart failure Look for signs of other diseases that could be causing heart rate or rhythm problems (such as coronary heart disease) Diagnostic Tests and Procedures EKG (Electrocardiogram) Doctors usually use an EKG (electrocardiogram) to help diagnose heart block. This simple test detects and records the heart's electrical activity. An EKG shows how fast the heart is beating and its rhythm (steady or irregular). The test also records the strength and timing of electrical signals as they pass through the heart. The data are recorded on a graph. Different types of heart block have different patterns on the graph. (For more information, go to "Types of Heart Block.") A standard EKG only records the heart's activity for a few seconds. To diagnose heart rhythm problems that come and go, your doctor may have you wear a portable EKG monitor. The most common types of portable EKGs are Holter and event monitors. Your doctor may have you use one of these monitors to diagnose first- or second-degree heart block. Holter and Event Monitors A Holter monitor records the heart's electrical signals for a full 24- or 48-hour period. You wear one while you do your normal daily activities. This allows the monitor to record your heart for a longer time than a standard EKG. An event monitor is similar to a Holter monitor. You wear an event monitor while doing your normal activities. However, an event monitor only records your heart's electrical activity at certain times while you're wearing it. You may wear an event monitor for 1 to 2 months, or as long as it takes to get a recording of your heart during symptoms. Electrophysiology Study For some cases of heart block, doctors may do electrophysiology studies (EPS). During this test, a thin, flexible wire is passed through a vein in your groin (upper thigh) or arm to your heart. The wire records your heart's electrical signals. Other Tests To diagnose heart block, your doctor may recommend tests to rule out other types of arrhythmias (irregular heartbeats). For more information, go to "How Are Arrhythmias Diagnosed?"

Question: How to diagnose Adult Non-Hodgkin Lymphoma ? Answer:

Tests that examine the body and lymph system are used to help detect (find) and diagnose adult non-Hodgkin lymphoma. 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. - 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. This test is used to diagnose lymphoplasmacytic lymphoma. - Bone marrow aspiration and biopsy : The removal of bone marrow and a small piece of bone by inserting a needle into the hipbone or breastbone. A pathologist views the bone marrow and bone under a microscope to look for signs of cancer. - Lymph node biopsy: The removal of all or part of a lymph node. A pathologist views the tissue under a microscope to look for cancer cells. One of the following types of biopsies may be done: - Excisional biopsy : The removal of an entire lymph node. - Incisional biopsy : The removal of part of a lymph node. - Core biopsy : The removal of part of a lymph node using a wide needle. - Fine-needle aspiration (FNA) biopsy: The removal of tissue or fluid using a thin needle. - 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. Other instruments may be inserted through the same or other incisions to take tissue samples to be checked under a microscope for signs of disease. - Laparotomy : A surgical procedure in which an incision (cut) is made in the wall of the abdomen to check the inside of the abdomen for signs of disease. Tissue samples are taken and checked under a microscope for signs of disease. If cancer is found, the following tests may be done to study the cancer 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. - 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. - 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 look for certain genetic markers. - Immunophenotyping : A process used to identify cells, based on the types of antigens or markers on the surface of the cell. This process is used to diagnose specific types of leukemia and lymphoma by comparing the cancer cells to normal cells of the immune system. Other tests and procedures may be done depending on the signs and symptoms seen and where the cancer forms in the body.

Question: What are the symptoms of Chronic progressive external ophthalmoplegia ? Answer:

What are the signs and symptoms of Chronic progressive external ophthalmoplegia? The signs and symptoms of chronic progressive external ophthalmoplegia (CPEO) typically begin in young adults between the ages of 18 and 40. The most common symptoms in affected individuals include drooping eyelids (ptosis) and weakness or paralysis of the eye muscles (ophthalmoplegia). The condition may be unilateral (affecting one eye) or bilateral (affecting both eyes). Some affected individuals also have weakness of the skeletal muscles (myopathy), specifically of the arms, legs, and/or neck. This may be especially noticeable during exercise. Muscle weakness may also cause difficulty swallowing (dysphagia). Sometimes, CPEO may be associated with other signs and symptoms. In these cases, the condition is referred to as "progressive external ophthalmoplegia plus" (PEO+). Additional signs and symptoms can include hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss), weakness and loss of sensation in the limbs due to nerve damage (neuropathy), impaired muscle coordination (ataxia), a pattern of movement abnormalities known as parkinsonism, or depression. CPEO can also occur as part of other underlying conditions such as Kearns-Sayre syndrome. These conditions may not only involve CPEO, but various additional features that are not shared by most individuals with CPEO. The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic progressive external ophthalmoplegia. 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) Adult onset - Autosomal dominant inheritance - Bradykinesia - Cataract - Decreased activity of cytochrome C oxidase in muscle tissue - Depression - Dysarthria - Dysphagia - EMG: myopathic abnormalities - Exercise intolerance - Facial palsy - Gait ataxia - Gastroparesis - Hypergonadotropic hypogonadism - Hyporeflexia - Impaired distal proprioception - Impaired distal vibration sensation - Increased serum lactate - Increased variability in muscle fiber diameter - Limb muscle weakness - Multiple mitochondrial DNA deletions - Muscle fiber necrosis - Parkinsonism with favorable response to dopaminergic medication - Pes cavus - Phenotypic variability - Premature ovarian failure - Primary amenorrhea - Progressive - Progressive external ophthalmoplegia - Progressive muscle weakness - Ptosis - Ragged-red muscle fibers - Resting tremor - Rigidity - Secondary amenorrhea - Sensorineural hearing impairment - Sensory axonal neuropathy - Skeletal muscle atrophy - Subsarcolemmal accumulations of abnormally shaped mitochondria - Testicular atrophy - 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 VACTERL association ? Answer:

What are the signs and symptoms of VACTERL association? The Human Phenotype Ontology provides the following list of signs and symptoms for VACTERL association. 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) Aplasia/Hypoplasia of the lungs 90% Polyhydramnios 90% Premature birth 90% Tracheal stenosis 90% Tracheoesophageal fistula 90% Urogenital fistula 90% Abnormal localization of kidney 50% Abnormality of the cardiac septa 50% Aplasia/Hypoplasia of the radius 50% Congenital diaphragmatic hernia 50% Laryngomalacia 50% Renal hypoplasia/aplasia 50% Vertebral segmentation defect 50% Abnormality of female internal genitalia 7.5% Abnormality of the fontanelles or cranial sutures 7.5% Abnormality of the gallbladder 7.5% Abnormality of the intervertebral disk 7.5% Abnormality of the pancreas 7.5% Abnormality of the ribs 7.5% Abnormality of the sacrum 7.5% Anencephaly 7.5% Bifid scrotum 7.5% Cavernous hemangioma 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Displacement of the external urethral meatus 7.5% Encephalocele 7.5% Finger syndactyly 7.5% Hypoplasia of penis 7.5% Intrauterine growth retardation 7.5% Low-set, posteriorly rotated ears 7.5% Multicystic kidney dysplasia 7.5% Non-midline cleft lip 7.5% Omphalocele 7.5% Preaxial hand polydactyly 7.5% Single umbilical artery 7.5% Abnormality of the nasopharynx - Abnormality of the sternum - Absent radius - Anal atresia - Choanal atresia - Ectopic kidney - Esophageal atresia - Failure to thrive - Hydronephrosis - Hypoplasia of the radius - Hypospadias - Large fontanelles - Laryngeal stenosis - Occipital encephalocele - Patent ductus arteriosus - Patent urachus - Postnatal growth retardation - Radioulnar synostosis - Renal agenesis - Renal dysplasia - Scoliosis - Short thumb - Spina bifida - Sporadic - Syndactyly - Tethered cord - Tetralogy of Fallot - Transposition of the great arteries - Triphalangeal thumb - Ureteropelvic junction obstruction - Ventricular septal defect - 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 symptoms of Acute intermittent porphyria ? Answer:

What are the signs and symptoms of Acute intermittent porphyria? Some people who inherit the gene for AIP never develop symptoms and are said to have "latent" AIP. Those individuals that present with symptoms usually do so after puberty, probably because of hormonal influences, although other activating factors include: alcohol, drugs (e.g., barbiturates, steroids, sulfa-containing antibiotics), chemicals, smoking, reduced caloric intake, stress, and travel. Symptoms usually last several days, but attacks for which treatment is not received promptly may last weeks or months. Abdominal pain, which is associated with nausea and can be severe, is the most common symptom and usually the first sign of an attack. Other symptoms may include : Gastrointestinal issues (e.g., nausea, vomiting, constipation, diarrhea, abdominal distention, ileus) Urinary tract issues (e.g., urinary retention, urinary incontinence, or dysuria) Neurological issues (e.g., muscle weakness in the arms or legs, paralysis) Psychiatric issues (e.g., insomnia, hysteria, anxiety, apathy or depression, phobias, psychosis, agitation, delirium, somnolence, or coma) Individuals with AIP have an increased risk of developing hepatocellular carcinoma; some develop kidney failure. The Human Phenotype Ontology provides the following list of signs and symptoms for Acute intermittent porphyria. 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) Abdominal pain 90% Abnormality of urine homeostasis 90% Anorexia 90% Insomnia 90% Myalgia 90% Nausea and vomiting 90% Seizures 90% Arrhythmia 50% Constipation 50% Hyperhidrosis 50% Hypertensive crisis 50% Paresthesia 50% Abnormality of lipid metabolism 7.5% Arthralgia 7.5% Cranial nerve paralysis 7.5% Diaphragmatic paralysis 7.5% Hallucinations 7.5% Hemiplegia/hemiparesis 7.5% Hyponatremia 7.5% Neoplasm of the liver 7.5% Reduced consciousness/confusion 7.5% Renal insufficiency 7.5% Weight loss 7.5% Acute episodes of neuropathic symptoms - Anxiety - Autosomal dominant inheritance - Depression - Diarrhea - Dysuria - Elevated urinary delta-aminolevulinic acid - Hepatocellular carcinoma - Hypertension - Nausea - Paralytic ileus - Psychotic episodes - Respiratory paralysis - Tachycardia - Urinary incontinence - Urinary retention - Vomiting - 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) Leukemia ? Answer:

Leukemia is a cancer of the blood cells. It is the most common type of blood cancer and affects 10 times as many adults as children. Most people diagnosed with leukemia are over 50 years old. Leukemia Starts in Bone Marrow Leukemia usually begins in the bone marrow, the soft material in the center of most bones where blood cells are formed. The bone marrow makes three types of blood cells, and each type has a special function. - White blood cells fight infection and disease. - Red blood cells carry oxygen throughout the body. - Platelets help control bleeding by forming blood clots. White blood cells fight infection and disease. Red blood cells carry oxygen throughout the body. Platelets help control bleeding by forming blood clots. In people with leukemia, the bone marrow produces abnormal white blood cells, called leukemia cells. At first, leukemia cells function almost normally. But over time, as more leukemia cells are produced, they may crowd out the healthy white blood cells, red blood cells, and platelets. This makes it difficult for the blood to carry out its normal functions. There are four common types of adult leukemia. Two are chronic, meaning they get worse over a longer period of time. The other two are acute, meaning they get worse quickly. - chronic lymphocytic leukemia - chronic myeloid leukemia - acute myeloid leukemia - acute lymphocytic leukemia chronic lymphocytic leukemia chronic myeloid leukemia acute myeloid leukemia acute lymphocytic leukemia Chronic and Acute Leukemia Chronic lymphocytic leukemia, chronic myeloid leukemia, and acute myeloid leukemia are diagnosed more often in older adults. Of these, chronic lymphocytic leukemia is the most common. Acute lymphocytic leukemia is found more often in children. The symptoms for each type of leukemia differ but may include fevers, frequent infections, fatigue, swollen lymph nodes, weight loss, and bleeding and bruising easily. However, such symptoms are not sure signs of leukemia. An infection or another problem also could cause these symptoms. Only a doctor can diagnose and treat the problem. (Watch the video to learn how the rates of leukemia diagnosis vary by age. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Learn more about chronic lymphocytic leukemia. Learn more about acute myeloid leukemia. Other Cancers That Affect Blood Cells Myeloma and lymphoma are other types of cancer that affect blood cells, but these cancer cells are rarely found in the blood stream. Myeloma is the second most common form of blood cancer, and it affects plasma cells, a type of white blood cell that is found in the bone marrow. Lymphoma accounts for about five percent of all the types of cancer in the United States. It starts in the lymphatic system, which is part of the body's immune system. Both myeloma and lymphoma are more common among older adults and occur more often in men than women. Learn more about myeloma. Many Treatments Are Available There are many methods available to treat acute and chronic leukemia, and there are many new treatments being developed that are rapidly changing how numerous types of leukemia are treated. The types of treatments depend on the specific disease and how best to treat it. Some people receive a combination of treatments. Acute leukemia usually needs to be treated right away. But there are many different kinds of acute leukemia. Some respond well to treatment and can be cured in some cases, while others are more difficult to treat. Treatment for chronic leukemia can often control the disease and its symptoms and there are new treatments being developed that may prolong survival. Also, there are several treatments now available for chronic myeloid leukemia that can control the disease for a long time.

Question: What are the symptoms of Myotonic dystrophy ? Answer:

What are the signs and symptoms of Myotonic dystrophy? Signs and symptoms of myotonic dystrophy often begin in a person's 20s or 30s, but they can begin at any age. Symptoms often include progressive muscle weakness and wasting (particularly in the legs, hands, neck and face); stiffness and tightness of the muscles; cataracts; and cardiac conduction defects (irregular electrical control of the heartbeat). Some affected men also have hormonal changes that may cause balding or infertility. The severity of symptoms can vary widely among affected people. The signs and symptoms of type 1 and type 2 overlap, but type 2 is generally more mild than type 1. People who are born with the condition have congenital myotonic dystrophy, which is a variation of type 1. Congenital myotonic dystophy causes weakness of all muscles, in addition to breathing problems, developmental delays and intellectual disabilities. The Human Phenotype Ontology provides the following list of signs and symptoms for Myotonic dystrophy. 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) Arrhythmia 90% Cataract 90% EMG abnormality 90% Hypertonia 90% Mask-like facies 90% Myotonia 90% Skeletal muscle atrophy 90% Abnormality of the endocrine system 50% Cognitive impairment 50% Facial palsy 50% Muscular hypotonia 50% Respiratory insufficiency 50% Abnormal hair quantity 7.5% Abnormality of the hip bone 7.5% Abnormality of the upper urinary tract 7.5% Cryptorchidism 7.5% Hernia of the abdominal wall 7.5% Hydrocephalus 7.5% Non-midline cleft lip 7.5% Strabismus 7.5% Atrial flutter 4/11 Autosomal dominant inheritance - Cerebral atrophy - Cholelithiasis - Decreased fetal movement - Diabetes mellitus - Dysphagia - Elevated follicle stimulating hormone - Elevated serum creatine phosphokinase - Excessive daytime sleepiness - Facial diplegia - Feeding difficulties in infancy - First degree atrioventricular block - Frontal balding - Hypogonadism - IgG deficiency - IgM deficiency - Insulin insensitivity - Intellectual disability, progressive - Intellectual disability, severe - Iridescent posterior subcapsular cataract - Myalgia - Neck flexor weakness - Obsessive-compulsive trait - Oligospermia - Palpitations - Polyhydramnios - Proximal muscle weakness - Respiratory distress - Tachycardia - Testicular atrophy - Type 2 muscle fiber atrophy - 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) Financial Help for Diabetes Care ? Answer:

Insurance companies sell private health insurance plans. Two types of private health insurance are - Group health insurance. People may be eligible to purchase group health insurance through their employer or union or through a family members employer or union. Other organizations, such as professional or alumni organizations, may also offer group health insurance. - Individual health insurance. People may purchase individual health insurance for themselves and their families. The website HealthCare.gov provides information about individual insurance plans. The website also provides a search function, called the Health Insurance Marketplace, to find health insurance options by state. Depending on their income and family size, some people may qualify for lower-cost premiums through the Health Insurance Marketplace. People can select or change individual health insurance plans during the open enrollment period each year. HealthCare.gov lists open enrollment period dates. The website also provides information about life events that may allow people to enroll outside the open enrollment period. Employers may have a waiting period before an employee and his or her family members can enroll in the company health plan. Under the ACA, the waiting period can be no longer than 90 days. Certain health plans called health maintenance organizations (HMOs) may have an affiliation perioda time that must pass before health insurance coverage becomes effective. An affiliation period can be no longer than 3 months. The ACA expanded coverage of preventive services. For example, adults with sustained high blood pressure may have access to diabetes screening at no cost. Adults and children may have access to obesity screening and counseling at no cost. Each states insurance regulatory office, sometimes called the state insurance department or commission, provides more information about health insurance laws. This office can also help identify an insurance company that offers individual coverage. The National Association of Insurance Commissioners website, www.naic.org/state_web_map.htm , provides a membership list with contact information and a link to the website for each states insurance regulatory office. The ADA also provides information about health insurance options at www.diabetes.org/living-with-diabetes/health-insurance . Keeping Group Health Insurance after Leaving a Job When leaving a job, a person may be able to continue the group health insurance provided by his or her employer for up to 18 months under a federal law called the Consolidated Omnibus Budget Reconciliation Act, or COBRA. Although people pay more for group health insurance through COBRA than they did as employees, group coverage may be cheaper than individual coverage. People who have a disability before becoming eligible for COBRA or who are determined by the Social Security Administration to be disabled within the first 60 days of COBRA coverage may be able to extend COBRA coverage an additional 11 months, for up to 29 months of coverage. COBRA may also cover young adults who were insured under a parents policy after they have reached the age limit and are trying to obtain their own insurance. Read more at www.dol.gov/dol/topic/health-plans/cobra.htm or call the U.S. Department of Labor at 18664USADOL (18664872365). If a person doesnt qualify for coverage or if COBRA coverage has expired, other options may be available: - Some states require employers to offer conversion policies, in which people stay with their insurance company and buy individual coverage. - Some professional and alumni organizations offer group coverage for members. - Some insurance companies offer short-term stopgap policies designed for people who are between jobs. However, these policies may not meet ACA requirements. For example, they may not cover preexisting conditions. - People can purchase individual health insurance policies. Each states insurance regulatory office can provide more information about these and other options. Information about consumer health plans is also available at the U.S. Department of Labors website at www.dol.gov/dol/topic/health-plans/consumerinfhealth.htm.

Question: What are the treatments for Antiphospholipid Antibody Syndrome ? Answer:

Antiphospholipid antibody syndrome (APS) has no cure. However, medicines can help prevent complications. The goals of treatment are to prevent blood clots from forming and keep existing clots from getting larger. You may have APS and another autoimmune disorder, such as lupus. If so, it's important to control that condition as well. When the other condition is controlled, APS may cause fewer problems. Research is ongoing for new ways to treat APS. Medicines Anticoagulants, or "blood thinners," are used to stop blood clots from forming. They also may keep existing blood clots from getting larger. These medicines are taken as either a pill, an injection under the skin, or through a needle or tube inserted into a vein (called intravenous, or IV, injection). Warfarin and heparin are two blood thinners used to treat APS. Warfarin is given in pill form. (Coumadin is a common brand name for warfarin.) Heparin is given as an injection or through an IV tube. There are different types of heparin. Your doctor will discuss the options with you. Your doctor may treat you with both heparin and warfarin at the same time. Heparin acts quickly. Warfarin takes 2 to 3 days before it starts to work. Once the warfarin starts to work, the heparin is stopped. Aspirin also thins the blood and helps prevent blood clots. Sometimes aspirin is used with warfarin. Other times, aspirin might be used alone. Blood thinners don't prevent APS. They simply reduce the risk of further blood clotting. Treatment with these medicines is long term. Discuss all treatment options with your doctor. Side Effects The most common side effect of blood thinners is bleeding. This happens if the medicine thins your blood too much. This side effect can be life threatening. Sometimes the bleeding is internal (inside your body). People treated with blood thinners usually need regular blood tests, called PT and PTT tests, to check how well their blood is clotting. These tests also show whether you're taking the right amount of medicine. Your doctor will check to make sure that you're taking enough medicine to prevent clots, but not so much that it causes bleeding. Talk with your doctor about the warning signs of internal bleeding and when to seek emergency care. (For more information, go to "Living With Antiphospholipid Antibody Syndrome.") Treatment During Pregnancy Pregnant women who have APS can have successful pregnancies. With proper treatment, these women are more likely to carry their babies to term. Pregnant women who have APS usually are treated with heparin or heparin and low-dose aspirin. Warfarin is not used as a treatment during pregnancy because it can harm the fetus. Babies whose mothers have APS are at higher risk for slowed growth while in the womb. If you're pregnant and have APS, you may need to have extra ultrasound tests (sonograms) to check your babys growth. An ultrasound test uses sound waves to look at the growing fetus. Treatment for Other Medical Conditions People who have APS are at increased risk for thrombocytopenia. This is a condition in which your blood has a lower than normal number of blood cell fragments called platelets. Platelets help the blood clot. If you have APS, you'll need regular complete blood counts (a type of blood test) to count the number of platelets in your blood. Thrombocytopenia is treated with medicines and medical procedures. For more information, go to the Health Topics Thrombocytopenia article. If you have other health problems, such as heart disease or diabetes, work with your doctor to manage them.

Question: What are the symptoms of Blue rubber bleb nevus syndrome ? Answer:

What are the signs and symptoms of Blue rubber bleb nevus syndrome? Symptoms and severity of blue rubber bleb nevus syndrome varies greatly from person to person. In general, blue rubber bleb nevus syndrome is characterized by skin spots (nevi) that may be few to hundreds in number. Size tends varies from millimeters to several centimeters in length. These nevi are made of blood vessels and are spongy, meaning they can easily be pressed upon. When pressure is released, they refill with blood and regain their original shape. They tend to be blue but can vary in color and shape. The surface of the nevi may be smooth or wrinkled and they often have a rubbery feel. They do not tend to bleed spontaneously, but are fragile and will bleed if injured. They may be tender to the touch. They may also be associated with increased sweating in the area of the skin legions. The number and size of legions may worsen with advancing age. Nevi may also be found in the intestines (particularly the small intestine) in individuals with blue rubber bleb nevus syndrome. These nevi can bleed spontaneously causing anemia. Most bleeding from the gastrointestinal tract is slow; however, sudden quick bleeding (hemorrhage) is possible. Other serious complications of gastrointestinal legions may include intussusception, bowel infarction, and even death. Blue rubber bleb nevus syndrome can affect other body organs as well. Nevi have been reported in the skull, central nervous system, thyroid, parotid, eyes, mouth, lungs, pleura, pericardium, musculoskeletal system, peritoneal cavity, mesentery, kidney, liver, spleen, penis, vulva, and bladder. Nevi may also put pressure on joints, bones, or feet, which may make walking difficult or limit range of motion. The Human Phenotype Ontology provides the following list of signs and symptoms for Blue rubber bleb nevus 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 coagulation 90% Arteriovenous malformation 90% Bone pain 90% Cavernous hemangioma 90% Skin rash 90% Visceral angiomatosis 90% Gastrointestinal hemorrhage 50% Intestinal malrotation 50% Gastrointestinal infarctions 7.5% Microcytic anemia 7.5% Abnormality of the liver - Abnormality of the mouth - Abnormality of the respiratory system - Autosomal dominant inheritance - Cerebellar medulloblastoma - Chronic disseminated intravascular coagulation - Hemangioma - Hypermelanotic macule - Intestinal bleeding - Intussusception - Iron deficiency anemia - Pathologic fracture - Rectal prolapse - Thrombocytopenia - Volvulus - 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 Hematuria (Blood in the Urine) ? Answer:

Hematuria is diagnosed with urinalysis, which is testing of a urine sample. The urine sample is collected in a special container in a health care providers office or commercial facility and can be tested in the same location or sent to a lab for analysis. For the test, a nurse or technician places a strip of chemically treated paper, called a dipstick, into the urine. Patches on the dipstick change color when RBCs are present in urine. When blood is visible in the urine or a dipstick test of the urine indicates the presence of RBCs, a health care provider examines the urine with a microscope to make an initial diagnosis of hematuria. The next step is to diagnose the cause of the hematuria. The health care provider will take a thorough medical history. If the history suggests a cause that does not require treatment, the urine should be tested again after 48 hours for the presence of RBCs. If two of three urine samples show too many RBCs when viewed with a microscope, more serious causes should be explored. The health care provider may order one or more of the following tests: - Urinalysis. Further testing of the urine may be done to check for problems that can cause hematuria, such as infection, kidney disease, and cancer. The presence of white blood cells signals a UTI. RBCs that are misshapen or clumped together to form little tubes, called casts, may indicate kidney disease. Large amounts of protein in the urine, called proteinuria, may also indicate kidney disease. The urine can also be tested for the presence of cancer cells. - Blood test. A blood test involves drawing blood at a health care providers office or commercial facility and sending the sample to a lab for analysis. A blood test can show the presence of high levels of creatinine, a waste product of normal muscle breakdown, which may indicate kidney disease. - Biopsy. A biopsy is a procedure that involves taking a piece of kidney tissue for examination with a microscope. The biopsyis performed by a health care provider in a hospital with light sedation and local anesthetic. The health care provider uses imaging techniques such as ultrasound or a computerized tomography (CT) scan to guide the biopsy needle into the kidney. The kidney tissue is examined in a lab by a pathologista doctor who specializes in diagnosing diseases. The test helps diagnose the type of kidney disease causing hematuria. - Cystoscopy. Cystoscopy is a procedure that uses a tubelike instrument to look inside the urethra and bladder. Cystoscopy is performed by a health care provider in the office, an outpatient facility, or a hospital with local anesthesia. However, in some cases, sedation and regional or general anesthesia are needed. Cystoscopy may be used to look for cancer cells in the bladder, particularly if cancer cells are found with urinalysis. More information is provided in the NIDDK health topic,Cystoscopy and Ureteroscopy. - Kidney imaging tests. Intravenous pyelogram (IVP) is an x ray of the urinary tract. A special dye, called contrast medium, is injected into a vein in the persons arm, travels through the body to the kidneys, and makes urine visible on the x ray. The contrast medium also shows any blockage in the urinary tract. When a small mass is found with IVP, another imaging test, such as an ultrasound, CT scan, or magnetic resonance imaging (MRI), can be used to further study the mass. Imaging tests are performed in an 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, though light sedation may be used in some cases. Imaging tests may show a tumor, a kidney or bladder stone, an enlarged prostate, or other blockage of the normal flow of urine. More information is provided in the NIDDK health topic, Imaging of the Urinary Tract.

Question: How to diagnose Overweight and Obesity ? Answer:

The most common way to find out whether you're overweight or obese is to figure out your body mass index (BMI). BMI is an estimate of body fat, and it's a good gauge of your risk for diseases that occur with more body fat. BMI is calculated from your height and weight. You can use the chart below or the National Heart, Lung, and Blood Institute's (NHLBI's) online BMI calculator to figure out your BMI. Or, you health care provider can measure your BMI. Body Mass Index for Adults Use this table to learn your BMI. First, find your height on the far left column. Next, move across the row to find your weight. Weight is measured with underwear but no shoes. Once you've found your weight, move to the very top of that column. This number is your BMI. This table offers a sample of BMI measurements. If you don't see your height and/or weight listed on this table, go the NHLBI's complete Body Mass Index Table. What Does Body Mass Index Mean? Although BMI can be used for most men and women, it does have some limits. It may overestimate body fat in athletes and others who have a muscular build. BMI also may underestimate body fat in older people and others who have lost muscle. Body Mass Index for Children and Teens Overweight are obesity are defined differently for children and teens than for adults. Children are still growing, and boys and girls mature at different rates. BMIs for children and teens compare their heights and weights against growth charts that take age and sex into account. This is called BMI-for-age percentile. A child or teen's BMI-for-age percentile shows how his or her BMI compares with other boys and girls of the same age. For more information about BMI-for-age and growth charts for children, go to the Centers for Disease Control and Prevention's BMI-for-age calculator. What Does the BMI-for-Age Percentile Mean? Waist Circumference Health care professionals also may take your waist measurement. This helps screen for the possible health risks related to overweight and obesity in adults. If you have abdominal obesity and most of your fat is around your waist rather than at your hips, you're at increased risk for coronary heart disease and type 2 diabetes. The risk goes up with a waist size that's greater than 35 inches for women or greater than 40inches for men. You also can measure your waist size. To do so correctly, stand and place a tape measure around your middle, just above your hipbones. Measure your waist just after you breathe out. Specialists Involved A primary care doctor (or pediatrician for children and teens) will assess your BMI, waist measurement, and overall health risk. If you're overweight or obese, or if you have a large waist size, your doctor should explain the health risks and find out whether you're interested and willing to lose weight. If you are, you and your doctor can work together to create a treatment plan. The plan may include weight-loss goals and treatment options that are realistic for you. Your doctor may send you to other health care specialists if you need expert care. These specialists may include: An endocrinologist if you need to be treated for type 2 diabetes or a hormone problem, such as an underactive thyroid. A registered dietitian or nutritionist to work with you on ways to change your eating habits. An exercise physiologist or trainer to figure out your level of fitness and show you how to do physical activities suitable for you. A bariatric surgeon if weight-loss surgery is an option for you. A psychiatrist, psychologist, or clinical social worker to help treat depression or stress.

Question: What are the symptoms of Zunich neuroectodermal syndrome ? Answer:

What are the signs and symptoms of Zunich neuroectodermal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Zunich neuroectodermal 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) Abnormal dermatoglyphics 90% Abnormality of calvarial morphology 90% Aplasia/Hypoplasia of the nipples 90% Chorioretinal coloboma 90% Cognitive impairment 90% Depressed nasal ridge 90% Epicanthus 90% External ear malformation 90% Hearing impairment 90% Hypertelorism 90% Ichthyosis 90% Microdontia 90% Ptosis 90% Reduced number of teeth 90% Short philtrum 90% Strabismus 90% Tall stature 90% Thick lower lip vermilion 90% Abnormality of epiphysis morphology 50% Abnormality of the clavicle 50% Abnormality of the pulmonary valve 50% Adactyly 50% Brachydactyly syndrome 50% Cleft palate 50% Increased number of teeth 50% Opacification of the corneal stroma 50% Seizures 50% Short toe 50% Tetralogy of Fallot 50% Transposition of the great arteries 50% Upslanted palpebral fissure 50% Abnormal hair quantity 7.5% Abnormality of the hip bone 7.5% Abnormality of the kidney 7.5% Acute leukemia 7.5% Autism 7.5% Cerebral cortical atrophy 7.5% Clubbing of toes 7.5% Fine hair 7.5% Hyperkeratosis 7.5% Osteolysis 7.5% Skin ulcer 7.5% Ventricular septal defect 7.5% Acute lymphoblastic leukemia - Autosomal recessive inheritance - Brachycephaly - Broad-based gait - Cerebral atrophy - Clinodactyly of the 5th finger - Conductive hearing impairment - Duplicated collecting system - Frontal bossing - Hydronephrosis - Hypoplastic nipples - Intellectual disability - Joint contracture of the hand - Large for gestational age - Large hands - Long foot - Low-set nipples - Muscular hypotonia - Overfolded helix - Palmoplantar hyperkeratosis - Peripheral pulmonary artery stenosis - Prominent forehead - Retinal coloboma - Sparse hair - Ureteropelvic junction obstruction - Violent behavior - Webbed neck - Wide mouth - Wide nasal bridge - Widely spaced teeth - 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 genetic changes related to spinal muscular atrophy ? Answer:

Mutations in the SMN1, UBA1, DYNC1H1, and VAPB genes cause spinal muscular atrophy. Extra copies of the SMN2 gene modify the severity of spinal muscular atrophy. The SMN1 and SMN2 genes provide instructions for making a protein called the survival motor neuron (SMN) protein. The SMN protein is important for the maintenance of specialized nerve cells called motor neurons. Motor neurons are located in the spinal cord and the brainstem; they control muscle movement. Most functional SMN protein is produced from the SMN1 gene, with a small amount produced from the SMN2 gene. Several different versions of the SMN protein are produced from the SMN2 gene, but only one version is full size and functional. Mutations in the SMN1 gene cause spinal muscular atrophy types I, II, III, and IV. SMN1 gene mutations lead to a shortage of the SMN protein. Without SMN protein, motor neurons die, and nerve impulses are not passed between the brain and muscles. As a result, some muscles cannot perform their normal functions, leading to weakness and impaired movement. Some people with type II, III, or IV spinal muscular atrophy have three or more copies of the SMN2 gene in each cell. Having multiple copies of the SMN2 gene can modify the course of spinal muscular atrophy. The additional SMN proteins produced from the extra copies of the SMN2 gene can help replace some of the SMN protein that is lost due to mutations in the SMN1 gene. In general, symptoms are less severe and begin later in life as the number of copies of the SMN2 gene increases. Mutations in the UBA1 gene cause X-linked spinal muscular atrophy. The UBA1 gene provides instructions for making the ubiquitin-activating enzyme E1. This enzyme is involved in a process that targets proteins to be broken down (degraded) within cells. UBA1 gene mutations lead to reduced or absent levels of functional enzyme, which disrupts the process of protein degradation. A buildup of proteins in the cell can cause it to die; motor neurons are particularly susceptible to damage from protein buildup. The DYNC1H1 gene provides instructions for making a protein that is part of a group (complex) of proteins called dynein. This complex is found in the fluid inside cells (cytoplasm), where it is part of a network that moves proteins and other materials. In neurons, dynein moves cellular materials away from the junctions between neurons (synapses) to the center of the cell. This process helps transmit chemical messages from one neuron to another. DYNC1H1 gene mutations that cause SMA-LED disrupt the function of the dynein complex. As a result, the movement of proteins, cellular structures, and other materials within cells are impaired. A decrease in chemical messaging between neurons that control muscle movement is thought to contribute to the muscle weakness experienced by people with SMA-LED. It is unclear why this condition affects only the lower extremities. The adult-onset form of spinal muscular atrophy is caused by a mutation in the VAPB gene. The VAPB gene provides instructions for making a protein that is found in cells throughout the body. Researchers suggest that this protein may play a role in preventing the buildup of unfolded or misfolded proteins within cells. It is unclear how a VAPB gene mutation leads to the loss of motor neurons. An impaired VAPB protein might cause misfolded and unfolded proteins to accumulate and impair the normal function of motor neurons. Other types of spinal muscular atrophy that primarily affect the lower legs and feet and the lower arms and hands are caused by the dysfunction of neurons in the spinal cord. When spinal muscular atrophy shows this pattern of signs and symptoms, it is also known as distal hereditary motor neuropathy. The various types of this condition are caused by mutations in other genes.

Question: What are the symptoms of Hereditary endotheliopathy, retinopathy, nephropathy, and stroke ? Answer:

What are the signs and symptoms of Hereditary endotheliopathy, retinopathy, nephropathy, and stroke? Very few cases of hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) have been reported. Based upon these reports, it appears that symptoms often begin in the 30s or 40s. Early symptoms, which may differ among individuals, may include depression, anxiety, paranoia, decreased central vision, and/or blind spots. Within the next 4 to 10 years affected individuals reportedly experience focal neurologic deficits that may have a sudden stroke-like onset. The stroke-like episodes may last several days. Headache and seizures may also occur. As the condition progresses, symptoms may include speech impairment, partial paralysis, and/or apraxia. Other symptoms of advanced disease include loss of vision as well as physical and mental skills. Kidney failure, hematuria (blood in the urine) and proteinuria has been described in some affected individuals. Common to all affected individuals is the presence of cerebral microvasculopathic lesions. Some individuals go on to develop mass lesions, predominantly involving the right frontal lobe. These lesions are often mistaken for tumors. The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary endotheliopathy, retinopathy, nephropathy, and stroke. 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 retinal vasculature 90% Visual impairment 90% Abnormality of movement 50% Behavioral abnormality 50% Cerebral ischemia 50% Developmental regression 50% Hematuria 50% Hemiplegia/hemiparesis 50% Migraine 50% Nephropathy 50% Neurological speech impairment 50% Proteinuria 50% Retinopathy 50% Seizures 50% Cataract 7.5% Glaucoma 7.5% Incoordination 7.5% Micronodular cirrhosis 5% Abnormality of the musculature of the lower limbs - Abnormality of the periventricular white matter - Adult onset - Apraxia - Autosomal dominant inheritance - Central nervous system degeneration - Dementia - Dysarthria - Elevated erythrocyte sedimentation rate - Elevated hepatic transaminases - Hemiparesis - Limb pain - Lower limb hyperreflexia - Macular edema - Pigmentary retinal degeneration - Progressive - Progressive forgetfulness - Progressive visual loss - Punctate vasculitis skin lesions - Retinal exudate - Retinal hemorrhage - Stroke - Telangiectasia - Vasculitis in the skin - 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 Adrenal Insufficiency and Addison's Disease ? Answer:

After Addisons disease is diagnosed, health care providers may use the following tests to look at the adrenal glands, find out whether the disease is related to TB, or identify antibodies associated with autoimmune Addisons disease. - Ultrasound of the abdomen. 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. The images can show abnormalities in the adrenal glands, such as enlargement or small size, nodules, or signs of calcium deposits, which may indicate bleeding. - Tuberculin skin test. A tuberculin skin test measures how a patients immune system reacts to the bacteria that cause TB. A small needle is used to put some testing material, called tuberculin, under the skin. A nurse or lab technician performs the test in a health care providers office; a patient does not need anesthesia. In 2 to 3 days, the patient returns to the health care provider, who will check to see if the patient had a reaction to the test. The test can show if adrenal insufficiency could be related to TB. To test whether a person has TB infection, which is when TB bacteria live in the body without making the person sick, a special TB blood test is used. To test whether a person has TB disease, which is when TB bacteria are actively attacking a persons lungs and making the person sick, other tests such as a chest x ray and a sample of sputumphlegm that is coughed up from deep in the lungsmay be needed. - Antibody blood tests. 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. The blood test can detect antibodiesproteins made by the immune system to protect the body from foreign substancesassociated with autoimmune Addisons disease. After secondary adrenal insufficiency is diagnosed, health care providers may use the following tests to obtain a detailed view of the pituitary gland and assess how it is functioning: - Computerized tomography (CT) scan. CT scans use a combination of x rays and computer technology to create images. For a CT scan, the patient may be given 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 the x rays are taken. 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 CT scan can show size and shape of the pituitary gland to find out if an abnormality is present. - 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 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 are designed to allow the patient to lie in a more open space. A specially trained technician performs the procedure in an outpatient center or a hospital, and a radiologist interprets the images. The patient does not need anesthesia, though people with a fear of confined spaces may receive light sedation, taken by mouth. MRIs can be used to produce a three-dimensional (3-D) image of the hypothalamus and the pituitary gland to find out if an abnormality is present. - Hormonal blood tests. Hormonal blood tests can assess how the pituitary gland is functioning and its ability to produce other hormones.

Question: What is (are) Childhood Hodgkin Lymphoma ? Answer:

Key Points - Childhood Hodgkin lymphoma is a disease in which malignant (cancer) cells form in the lymph system. - There are two types of childhood Hodgkin lymphoma. - Epstein-Barr virus infection increases the risk of childhood Hodgkin lymphoma. - Signs of childhood Hodgkin lymphoma include swollen lymph nodes, fever, night sweats, and weight loss. - Tests that examine the lymph system are used to detect (find) and diagnose childhood Hodgkin lymphoma. - Certain factors affect prognosis (chance of recovery) and treatment options. Childhood Hodgkin lymphoma is a disease in which malignant (cancer) cells form in the lymph system. Childhood Hodgkin lymphoma is a type of cancer that develops in the lymph system, which is part of the body's immune system. The immune system protects the body from foreign substances, infection, and diseases. The lymph system is made up of the following: - Lymph: Colorless, watery fluid that carries white blood cells called lymphocytes through the lymph system. Lymphocytes protect the body against infections and the growth of tumors. - Lymph vessels: A network of thin tubes that collect lymph from different parts of the body and return it to the bloodstream. - Lymph nodes: Small, bean-shaped structures that filter lymph and store white blood cells that help fight infection and disease. Lymph nodes are located along the network of lymph vessels found throughout the body. Clusters of lymph nodes are found in the neck, underarm, abdomen, pelvis, and groin. - Spleen: An organ that makes lymphocytes, filters the blood, stores blood cells, and destroys old blood cells. The spleen is on the left side of the abdomen near the stomach. - Thymus: An organ in which lymphocytes grow and multiply. The thymus is in the chest behind the breastbone. - Tonsils: Two small masses of lymph tissue at the back of the throat. The tonsils make lymphocytes. - Bone marrow: The soft, spongy tissue in the center of large bones. Bone marrow makes white blood cells, red blood cells, and platelets. Lymph tissue is also found in other parts of the body such as the stomach, thyroid gland, brain, and skin. There are two general types of lymphoma: Hodgkin lymphoma and non-Hodgkin lymphoma. (See the PDQ summary on Childhood Non-Hodgkin Lymphoma Treatment for more information.) Hodgkin lymphoma often occurs in adolescents 15 to 19 years of age. The treatment for children and adolescents is different than treatment for adults. (See the PDQ summary on Adult Hodgkin Lymphoma Treatment for more information.) There are two types of childhood Hodgkin lymphoma. The two types of childhood Hodgkin lymphoma are: - Classical Hodgkin lymphoma. - Nodular lymphocyte-predominant Hodgkin lymphoma. Classical Hodgkin lymphoma is divided into four subtypes, based on how the cancer cells look under a microscope: - Lymphocyte-rich classical Hodgkin lymphoma. - Nodular sclerosis Hodgkin lymphoma. - Mixed cellularity Hodgkin lymphoma. - Lymphocyte-depleted Hodgkin lymphoma.

Question: What are the symptoms of Antley Bixler syndrome ? Answer:

What are the signs and symptoms of Antley Bixler syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Antley Bixler 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 femur 90% Abnormality of the ribs 90% Anteverted nares 90% Arachnodactyly 90% Camptodactyly of finger 90% Frontal bossing 90% Humeroradial synostosis 90% Hypoplasia of the zygomatic bone 90% Limitation of joint mobility 90% Low-set, posteriorly rotated ears 90% Narrow chest 90% Short nose 90% Abnormality of the urinary system 50% Choanal atresia 50% Craniosynostosis 50% Proptosis 50% Cleft palate 7.5% Hypertelorism 7.5% Long philtrum 7.5% Narrow mouth 7.5% Recurrent fractures 7.5% Strabismus 7.5% Talipes 7.5% Underdeveloped supraorbital ridges 7.5% Abnormal renal morphology - Abnormalities of placenta or umbilical cord - Abnormality of metabolism/homeostasis - Abnormality of the abdomen - Abnormality of the endocrine system - Abnormality of the pinna - Arnold-Chiari malformation - Atria septal defect - Autosomal recessive inheritance - Bifid scrotum - Brachycephaly - Bronchomalacia - Camptodactyly - Carpal synostosis - Choanal stenosis - Chordee - Clitoromegaly - Cloverleaf skull - Conductive hearing impairment - Coronal craniosynostosis - Cryptorchidism - Depressed nasal bridge - Femoral bowing - Fused labia minora - Hemivertebrae - Horseshoe kidney - Hydrocephalus - Hypoplasia of midface - Hypoplastic labia majora - Hypospadias - Intellectual disability - Joint contracture of the hand - Labial hypoplasia - Lambdoidal craniosynostosis - Laryngomalacia - Low maternal serum estriol - Malar flattening - Maternal virilization in pregnancy - Microcephaly - Micropenis - Narrow pelvis bone - Oligohydramnios - Polycystic ovaries - Radioulnar synostosis - Rocker bottom foot - Scoliosis - Scrotal hypoplasia - Small for gestational age - Stenosis of the external auditory canal - Tarsal synostosis - Ulnar bowing - Upper airway obstruction - Vaginal atresia - Vesicovaginal fistula - Wide anterior fontanel - 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 TAR syndrome ? Answer:

What are the signs and symptoms of TAR syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for TAR 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) Bilateral radial aplasia 100% Abnormality of coagulation 90% Aplasia/Hypoplasia of the ulna 90% Thrombocytopenia 90% Clinodactyly of the 5th finger 75% Cow milk allergy 75% Coxa valga 75% Eosinophilia 75% Genu varum 75% Hip dislocation 75% Patellar aplasia 75% Abnormality of the intestine 50% Adducted thumb 50% Aplasia/hypoplasia of the humerus 50% Broad forehead 50% Broad thumb 50% High forehead 50% Low-set, posteriorly rotated ears 50% Patellar dislocation 50% Death in infancy 40% Anemia 33% Abnormal localization of kidney 7.5% Abnormality of the cardiac septa 7.5% Abnormality of the shoulder 7.5% Carpal bone hypoplasia 7.5% Cavum septum pellucidum 7.5% Cerebellar hypoplasia 7.5% Cleft palate 7.5% Delayed CNS myelination 7.5% Edema of the dorsum of feet 7.5% Edema of the dorsum of hands 7.5% Finger syndactyly 7.5% Hepatosplenomegaly 7.5% Lateral clavicle hook 7.5% Malar flattening 7.5% Nevus flammeus of the forehead 7.5% Phocomelia 7.5% Ptosis 7.5% Scoliosis 7.5% Sensorineural hearing impairment 7.5% Short phalanx of finger 7.5% Strabismus 7.5% Talipes equinovarus 7.5% Tetralogy of Fallot 7.5% Tibial torsion 7.5% Short stature 7% Aplasia of the uterus 5% Axial malrotation of the kidney 5% Cervical ribs 5% Coarctation of aorta 5% Fibular aplasia 5% Fused cervical vertebrae 5% Anteverted nares - Atria septal defect - Autosomal recessive inheritance - Brachycephaly - Carpal synostosis - Decreased antibody level in blood - Horseshoe kidney - Meckel diverticulum - Motor delay - Pancreatic cysts - Seborrheic dermatitis - Seizures - Shoulder muscle hypoplasia - Spina bifida - 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: How to diagnose Hypotension ? Answer:

Hypotension is diagnosed based on your medical history, a physical exam, and test results. Your doctor will want to know: The type of hypotension you have and how severe it is Whether an underlying condition is causing the hypotension Specialists Involved A primary care doctor or specialist may diagnose and treat hypotension. The type of specialist most commonly involved is a cardiologist (heart specialist). Other specialists also may be involved, such as surgeons, nephrologists (kidney specialists), or neurologists (brain and nerve specialists). Diagnostic Tests Shock is a life-threatening condition that requires emergency treatment. For other types of hypotension, your doctor may recommend tests to find out how your blood pressure responds in certain situations. The test results will help your doctor understand why you're fainting or having other symptoms. Blood Tests During a blood test, a small amount of blood is taken from your body. It's usually drawn from a vein in your arm using a needle. The procedure is quick and easy, although it may cause some short-term discomfort. Blood tests can show whether anemia or low blood sugar is causing your hypotension. EKG (Electrocardiogram) An EKG is a simple test that detects and records your heart's electrical activity. It shows how fast your heart is beating and whether its rhythm is steady or irregular. An EKG also shows the strength and timing of electrical signals as they pass through each part of your heart. Holter and Event Monitors Holter and event monitors are medical devices that record your heart's electrical activity. These monitors are similar to an EKG. However, a standard EKG only records your heartbeat for a few seconds. It won't detect heart rhythm problems that don't occur during the test. Holter and event monitors are small, portable devices. You can wear one while you do your normal daily activities. This allows the monitor to record your heart for longer periods than a standard EKG. Echocardiography Echocardiography (echo) is a test that uses sound waves to create a moving picture of your heart. The picture shows how well your heart is working and its size and shape. There are several types of echo, including stress echo. This test is done as part of a stress test (see below). Stress echo usually is done to find out whether you have decreased blood flow to your heart, a sign of coronary heart disease (also called coronary artery disease). Stress Test Some heart problems are easier to diagnose when your heart is working hard and beating fast. During stress testing, you exercise (or are given medicine if you're unable to exercise) to make your heart work hard and beat fast while heart tests are done. These tests may include nuclear heart scanning, echo, and positron emission tomography (PET) scanning of the heart. Valsalva Maneuver This is a simple test for the part of your nervous system that controls functions such as your heartbeat and the narrowing and widening of your blood vessels. If something goes wrong with this part of the nervous system, blood pressure problems may occur. During this test, you take a deep breath and then force the air out through your lips. You will do this several times. Your heart rate and blood pressure will be checked during the test. Tilt Table Test This test is used if you have fainting spells for no known reason. For the test, you lie on a table that moves from a lying down to an upright position. Your doctor checks your reaction to the change in position. Doctors use a tilt table test to diagnose orthostatic hypotension and neurally mediated hypotension (NMH). People who have NMH usually faint during this test. The test can help your doctor find any underlying brain or nerve condition.

Question: What are the symptoms of FG syndrome ? Answer:

What are the signs and symptoms of FG syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for FG 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) Aplasia/Hypoplasia of the corpus callosum 90% Behavioral abnormality 90% Broad forehead 90% Cognitive impairment 90% High forehead 90% Low-set, posteriorly rotated ears 90% Muscular hypotonia 90% Abnormality of the palate 50% Brachydactyly syndrome 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% EEG abnormality 50% Epicanthus 50% Fine hair 50% Mask-like facies 50% Open mouth 50% Seizures 50% Strabismus 50% Abnormality of the intestine 7.5% Hernia of the abdominal wall 7.5% Hypertonia 7.5% Ptosis 7.5% Single transverse palmar crease 7.5% Sensorineural hearing impairment 4/6 Feeding difficulties in infancy 5/8 Seizures 5/8 Prominent forehead 3/8 Scoliosis 2/8 Abnormal heart morphology - Abnormality of the nasopharynx - Abnormality of the sternum - Anal atresia - Anal stenosis - Anteriorly placed anus - Attention deficit hyperactivity disorder - Broad hallux - Broad thumb - Camptodactyly - Choanal atresia - Cleft palate - Cleft upper lip - Clinodactyly - Constipation - Delayed closure of the anterior fontanelle - Delayed speech and language development - Dental crowding - Facial wrinkling - Frontal bossing - Frontal upsweep of hair - Heterotopia - High pitched voice - Hydrocephalus - Hypertelorism - Hypospadias - Inguinal hernia - Intellectual disability - Intestinal malrotation - Joint contracture of the hand - Joint swelling onset late infancy - Large forehead - Long philtrum - Lumbar hyperlordosis - Microtia, first degree - Motor delay - Multiple joint contractures - Narrow palate - Neonatal hypotonia - Partial agenesis of the corpus callosum - Plagiocephaly - Postnatal macrocephaly - Prominent fingertip pads - Prominent nose - Pyloric stenosis - Radial deviation of finger - Sacral dimple - Short neck - Short stature - Skin tags - Sparse hair - Split hand - Syndactyly - Thick lower lip vermilion - Umbilical hernia - Underdeveloped superior crus of antihelix - Wide anterior fontanel - Wide mouth - Wide nasal bridge - X-linked inheritance - X-linked recessive 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: What are the genetic changes related to facioscapulohumeral muscular dystrophy ? Answer:

Facioscapulohumeral muscular dystrophy is caused by genetic changes involving the long (q) arm of chromosome 4. Both types of the disease result from changes in a region of DNA near the end of the chromosome known as D4Z4. This region consists of 11 to more than 100 repeated segments, each of which is about 3,300 DNA base pairs (3.3 kb) long. The entire D4Z4 region is normally hypermethylated, which means that it has a large number of methyl groups (consisting of one carbon atom and three hydrogen atoms) attached to the DNA. The addition of methyl groups turns off (silences) genes, so hypermethylated regions of DNA tend to have fewer genes that are turned on (active). Facioscapulohumeral muscular dystrophy results when the D4Z4 region is hypomethylated, with a shortage of attached methyl groups. In FSHD1, hypomethylation occurs because the D4Z4 region is abnormally shortened (contracted), containing between 1 and 10 repeats instead of the usual 11 to 100 repeats. In FSHD2, hypomethylation most often results from mutations in a gene called SMCHD1, which provides instructions for making a protein that normally hypermethylates the D4Z4 region. However, about 20 percent of people with FSHD2 do not have an identified mutation in the SMCHD1 gene, and the cause of the hypomethylation is unknown. Hypermethylation of the D4Z4 region normally keeps a gene called DUX4 silenced in most adult cells and tissues. The DUX4 gene is located in the segment of the D4Z4 region closest to the end of chromosome 4. In people with facioscapulohumeral muscular dystrophy, hypomethylation of the D4Z4 region prevents the DUX4 gene from being silenced in cells and tissues where it is usually turned off. Although little is known about the function of the DUX4 gene when it is active, researchers believe that it influences the activity of other genes, particularly in muscle cells. It is unknown how abnormal activity of the DUX4 gene damages or destroys these cells, leading to progressive muscle weakness and atrophy. The DUX4 gene is located next to a regulatory region of DNA on chromosome 4 known as a pLAM sequence, which is necessary for the production of the DUX4 protein. Some copies of chromosome 4 have a functional pLAM sequence, while others do not. Copies of chromosome 4 with a functional pLAM sequence are described as 4qA or "permissive." Those without a functional pLAM sequence are described as 4qB or "non-permissive." Without a functional pLAM sequence, no DUX4 protein is made. Because there are two copies of chromosome 4 in each cell, individuals may have two "permissive" copies of chromosome 4, two "non-permissive" copies, or one of each. Facioscapulohumeral muscular dystrophy can only occur in people who have at least one "permissive" copy of chromosome 4. Whether an affected individual has a contracted D4Z4 region or a SMCHD1 gene mutation, the disease results only if a functional pLAM sequence is also present to allow DUX4 protein to be produced. Studies suggest that mutations in the SMCHD1 gene, which cause FSHD2, can also increase the severity of the disease in people with FSHD1. Researchers suspect that the combination of a contracted D4Z4 region and a SMCHD1 gene mutation causes the D4Z4 region to have even fewer methyl groups attached, which allows the DUX4 gene to be highly active. In people with both genetic changes, the overactive gene leads to severe muscle weakness and atrophy.

Question: What is (are) Adult Acute Myeloid Leukemia ? Answer:

Key Points - Adult acute myeloid leukemia (AML) is a type of cancer in which the bone marrow makes abnormal myeloblasts (a type of white blood cell), red blood cells, or platelets. - Leukemia may affect red blood cells, white blood cells, and platelets. - There are different subtypes of AML. - Smoking, previous chemotherapy treatment, and exposure to radiation may affect the risk of adult AML. - Signs and symptoms of adult AML include fever, feeling tired, and easy bruising or bleeding. - Tests that examine the blood and bone marrow are used to detect (find) and diagnose adult AML. - Certain factors affect prognosis (chance of recovery) and treatment options. Adult acute myeloid leukemia (AML) is a type of cancer in which the bone marrow makes abnormal myeloblasts (a type of white blood cell), red blood cells, or platelets. Adult acute myeloid leukemia (AML) is a cancer of the blood and bone marrow. This type of cancer usually gets worse quickly if it is not treated. It is the most common type of acute leukemia in adults. AML is also called acute myelogenous leukemia, acute myeloblastic leukemia, acute granulocytic leukemia, and acute nonlymphocytic leukemia. Leukemia may affect red blood cells, white blood cells, and platelets. Normally, the bone marrow makes blood stem cells (immature cells) that become mature blood cells over time. A blood stem cell may become a myeloid stem cell or a lymphoid stem cell. A lymphoid stem cell becomes a white blood cell. A myeloid stem cell becomes one of three types of mature blood cells: - Red blood cells that carry oxygen and other substances to all tissues of the body. - White blood cells that fight infection and disease. - Platelets that form blood clots to stop bleeding. In AML, the myeloid stem cells usually become a type of immature white blood cell called myeloblasts (or myeloid blasts). The myeloblasts in AML are abnormal and do not become healthy white blood cells. Sometimes in AML, too many stem cells become abnormal red blood cells or platelets. These abnormal white blood cells, red blood cells, or platelets are also called leukemia cells or blasts. Leukemia cells can build up in the bone marrow and blood so there is less room for healthy white blood cells, red blood cells, and platelets. When this happens, infection, anemia, or easy bleeding may occur. The leukemia cells can spread outside the blood to other parts of the body, including the central nervous system (brain and spinal cord), skin, and gums. This summary is about adult AML. See the following PDQ summaries for information about other types of leukemia: - Childhood Acute Myeloid Leukemia/Other Myeloid Malignancies Treatment - Chronic Myelogenous Leukemia Treatment - Adult Acute Lymphoblastic Leukemia Treatment - Childhood Acute Lymphoblastic Leukemia Treatment - Chronic Lymphocytic Leukemia Treatment - Hairy Cell Leukemia Treatment There are different subtypes of AML. Most AML subtypes are based on how mature (developed) the cancer cells are at the time of diagnosis and how different they are from normal cells. Acute promyelocytic leukemia (APL) is a subtype of AML that occurs when parts of two genes stick together. APL usually occurs in middle-aged adults. Signs of APL may include both bleeding and forming blood clots.

Question: What are the symptoms of Moebius syndrome ? Answer:

What are the signs and symptoms of Moebius syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Moebius 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 voice 90% Mask-like facies 90% Open mouth 90% Ophthalmoparesis 90% Ptosis 90% Strabismus 90% Delayed speech and language development 55% Aplasia of the pectoralis major muscle 50% Brachydactyly syndrome 50% Feeding difficulties in infancy 50% Muscular hypotonia 50% Opacification of the corneal stroma 50% Talipes 50% Hypertelorism 25% Bifid uvula 11% Abnormality of the sense of smell 7.5% Abnormality of the ulna 7.5% Absent hand 7.5% Aplasia/Hypoplasia of the radius 7.5% Aplasia/Hypoplasia of the thumb 7.5% Aplasia/Hypoplasia of the tongue 7.5% Autism 7.5% Blepharitis 7.5% Breast aplasia 7.5% Cafe-au-lait spot 7.5% Cleft palate 7.5% Clinodactyly of the 5th finger 7.5% Epicanthus 7.5% Finger syndactyly 7.5% Hearing impairment 7.5% Microdontia 7.5% Reduced number of teeth 7.5% Skeletal muscle atrophy 7.5% Visual impairment 7.5% Abnormality of pelvic girdle bone morphology - Abnormality of the nail - Abnormality of the nasopharynx - Abnormality of the pinna - Abnormality of the posterior cranial fossa - Aplasia/Hypoplasia involving the metacarpal bones - Autosomal dominant inheritance - Camptodactyly - Clinodactyly - Clumsiness - Congenital fibrosis of extraocular muscles - Decreased testicular size - Depressed nasal bridge - Dysarthria - Dysdiadochokinesis - Dysphagia - Esotropia - Exotropia - Facial diplegia - Gait disturbance - High palate - Hypogonadotrophic hypogonadism - Hypoplasia of the brainstem - Infantile muscular hypotonia - Intellectual disability, mild - Lower limb undergrowth - Micropenis - Microphthalmia - Motor delay - Pes planus - Phenotypic variability - Poor coordination - Radial deviation of finger - Respiratory difficulties - Short neck - Short phalanx of finger - Split hand - Sporadic - Syndactyly - 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 causes High Blood Pressure ? Answer:

Changes, either fromgenesor the environment, in the bodys normal functions may cause high blood pressure, including changes to kidney fluid and salt balances, therenin-angiotensin-aldosterone system,sympathetic nervous systemactivity, and blood vessel structure and function. Biology and High Blood Pressure Researchers continue to study how various changes in normal body functions cause high blood pressure. The key functions affected in high blood pressure include: Kidney fluid and salt balances Renin-angiotensin-aldosterone system Sympathetic nervous system activity Blood vessel structure and function Kidney Fluid and Salt Balances The kidneys normally regulate the bodys salt balance by retaining sodium and water and excreting potassium. Imbalances in this kidney function can expand blood volumes, which can cause high blood pressure. Renin-Angiotensin-Aldosterone System The renin-angiotensin-aldosterone system makes angiotensin and aldosterone hormones. Angiotensin narrows or constricts blood vessels, which can lead to an increase in blood pressure. Aldosterone controls how the kidneys balance fluid and salt levels. Increased aldosterone levels or activity may change this kidney function, leading to increased blood volumes and high blood pressure. Sympathetic Nervous System Activity The sympathetic nervous system has important functions in blood pressure regulation, including heart rate, blood pressure, and breathing rate. Researchers are investigating whether imbalances in this system cause high blood pressure. Blood Vessel Structure and Function Changes in the structure and function of small and large arteries may contribute to high blood pressure. The angiotensin pathway and the immune system may stiffen small and large arteries, which can affect blood pressure. Genetic Causes of High Blood Pressure Much of the understanding of the body systems involved in high blood pressure has come from genetic studies. High blood pressure often runs in families. Years of research have identified many genes and other mutations associated with high blood pressure, some in the renal salt regulatory and renin-angiotensin-aldosterone pathways. However, these known genetic factors only account for 2 to 3percent of all cases. Emerging research suggests that certain DNA changes during fetal development also may cause the development of high blood pressure later in life. Environmental Causes of High Blood Pressure Environmental causes of high blood pressure include unhealthy lifestyle habits, being overweight or obese, and medicines. Unhealthy Lifestyle Habits Unhealthy lifestyle habits can cause high blood pressure, including: High dietary sodium intake and sodium sensitivity Drinking excess amounts of alcohol Lack of physical activity Overweight and Obesity Research studies show that being overweight or obese can increase the resistance in the blood vessels, causing the heart to work harder and leading to high blood pressure. Medicines Prescription medicines such as asthma or hormone therapies, including birth control pills and estrogen, and over-the-counter medicines such as cold relief medicines may cause this form of high blood pressure. This happens because medicines can change the way your body controls fluid and salt balances, cause your blood vessels to constrict, or impact the renin-angiotensin-aldosterone system leading to high blood pressure. Other Medical Causes of High Blood Pressure Other medical causes of high blood pressure include other medical conditions such as chronic kidney disease, sleep apnea, thyroid problems, or certain tumors. This happens because these other conditions change the way your body controls fluids, sodium, and hormones in your blood, which leads to secondary high blood pressure.

Question: How to diagnose Childhood Hodgkin Lymphoma ? Answer:

Tests that examine the lymph system are used to detect (find) and diagnose childhood Hodgkin lymphoma. 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 patient's health habits and past illnesses and treatments will also be taken. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the neck, chest, abdomen, or pelvis, 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. Sometimes a PET scan and a CT scan are done at the same time. If there is any cancer, this increases the chance that it will be found. - 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 and onto film, making a picture of areas inside the body. - 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. - Sedimentation rate : A procedure in which a sample of blood is drawn and checked for the rate at which the red blood cells settle to the bottom of the test tube. The sedimentation rate is a measure of how much inflammation is in the body. A higher than normal sedimentation rate may be a sign of lymphoma. Also called erythrocyte sedimentation rate, sed rate, or ESR. - Lymph node biopsy : The removal of all or part of a lymph node. The lymph node may be removed during an image-guided CT scan or a thoracoscopy, mediastinoscopy, or laparoscopy. One of the following types of biopsies may be done: - Excisional biopsy : The removal of an entire lymph node. - Incisional biopsy : The removal of part of a lymph node. - Core biopsy : The removal of tissue from a lymph node using a wide needle. - Fine-needle aspiration (FNA) biopsy : The removal of tissue from a lymph node using a thin needle. A pathologist views the tissue under a microscope to look for cancer cells, especially Reed-Sternberg cells. Reed-Sternberg cells are common in classical Hodgkin lymphoma. The following test may be done on tissue that was removed: - Immunophenotyping : A laboratory test used to identify cells, based on the types of antigens or markers on the surface of the cell. This test is used to diagnose the specific type of lymphoma by comparing the cancer cells to normal cells of the immune system.

Question: What are the symptoms of Sarcoidosis ? Answer:

Many people who have sarcoidosis have no signs or symptoms or mild ones. Often, the disease is found when a chest x ray is done for another reason (for example, to diagnose pneumonia). The signs and symptoms of sarcoidosis vary depending on which organs are affected. Signs and symptoms also may vary depending on your gender, age, and ethnic background. (For more information, go to "Who Is at Risk for Sarcoidosis?") Common Signs and Symptoms In both adults and children, sarcoidosis most often affects the lungs. If granulomas (inflamed lumps) form in your lungs, you may wheeze, cough, feel short of breath, or have chest pain. Or, you may have no symptoms at all. Some people who have sarcoidosis feel very tired, uneasy, or depressed. Night sweats and weight loss are common symptoms of the disease. Common signs and symptoms in children are fatigue (tiredness), loss of appetite, weight loss, bone and joint pain, and anemia. Children who are younger than 4 years old may have a distinct form of sarcoidosis. It may cause enlarged lymph nodes in the chest (which can be seen on chest x-ray pictures), skin lesions, and eye swelling or redness. Other Signs and Symptoms Sarcoidosis may affect your lymph nodes. The disease can cause enlarged lymph nodes that feel tender. Sarcoidosis usually affects the lymph nodes in your neck and chest. However, the disease also may affect the lymph nodes under your chin, in your armpits, or in your groin. Sarcoidosis can cause lumps, ulcers (sores), or areas of discolored skin. These areas may itch, but they don't hurt. These signs tend to appear on your back, arms, legs, and scalp. Sometimes they appear near your nose or eyes. These signs usually last a long time. Sarcoidosis may cause a more serious skin condition called lupus pernio. Disfiguring skin sores may affect your nose, nasal passages, cheeks, ears, eyelids, and fingers. These sores tend to be ongoing. They can return after treatment is over. Sarcoidosis also can cause eye problems. If you have sarcoidosis, having an annual eye exam is important. If you have changes in your vision and can't see as clearly or can't see color, call 911 or have someone drive you to the emergency room. You should call your doctor if you have any new eye symptoms, such as burning, itching, tearing, pain, or sensitivity to light. Signs and symptoms of sarcoidosis also may include an enlarged liver, spleen, or salivary glands. Although less common, sarcoidosis can affect the heart and brain. This can cause many symptoms, such as abnormal heartbeats, shortness of breath, headaches, and vision problems. If sarcoidosis affects the heart or brain, serious complications can occur. Lofgren's Syndrome Lofgren's syndrome is a classic set of signs and symptoms that occur in some people when they first have sarcoidosis. Signs and symptoms may include: Fever. This symptom only occurs in some people. Enlarged lymph nodes (which can be seen on a chest x ray). Arthritis, usually in the ankles. This symptom is more common in men than women. Erythema nodosum. This is a rash of red or reddish-purple bumps on your ankles and shins. The rash may be warm and tender to the touch. This symptom is more common in women than men. Sarcoidosis Signs and Symptoms

Question: What are the symptoms of Chronic Fatigue Syndrome (CFS) ? Answer:

Chronic fatigue syndrome can be misdiagnosed or overlooked because its symptoms are similar to so many other illnesses. Fatigue, for instance, can be a symptom for hundreds of illnesses. Looking closer at the nature of the symptoms though, can help a doctor distinguish CFS from other illnesses. Primary Symptoms As the name chronic fatigue syndrome suggests, fatigue is one part of this illness. With CFS, however, the fatigue is accompanied by other symptoms. In addition, the fatigue is not the kind you might feel after a particularly busy day or week, after a sleepless night, or after a single stressful event. It's a severe, incapacitating fatigue that isn't improved by bed rest and that is often worsened by physical activity or mental exertion. It's an all-encompassing fatigue that can dramatically reduce a person's activity level and stamina. People with CFS function at a significantly lower level of activity than they were capable of before they became ill. The illness results in a substantial reduction in work-related, personal, social, and educational activities. The fatigue of CFS is accompanied by characteristic illness symptoms lasting at least 6 months. These symptoms include: - increased malaise (extreme exhaustion and sickness) following physical activity or mental exertion - problems with sleep - difficulties with memory and concentration - persistent muscle pain - joint pain (without redness or swelling) - headache - tender lymph nodes in the neck or armpit - sore throat Other Symptoms The symptoms listed above are the symptoms used to diagnose CFS. However, many CFS patients and patients in general may experience other symptoms, including: - brain fog (feeling like you're in a mental fog) - difficulty maintaining an upright position, dizziness, balance problems or fainting - allergies or sensitivities to foods, odors, chemicals, medications, or noise - irritable bowel - chills and night sweats - visual disturbances (sensitivity to light, blurring, eye pain) - depression or mood problems (irritability, mood swings, anxiety, panic attacks) It's important to tell your health care professional if you're experiencing any of these symptoms. You might have CFS, or you might have another treatable disorder. Only a health care professional can diagnose CFS. What's the Clinical Course of CFS? The severity of CFS varies from patient to patient. Some people can maintain fairly active lives. For most patients, however, CFS significantly limits their work, school, and family activities for periods of time. While symptoms vary from person to person in number, type, and severity, all CFS patients are limited in what they can do to some degree. CDC studies show that CFS can be as disabling as multiple sclerosis, lupus, rheumatoid arthritis, heart disease, end-stage renal disease, chronic obstructive pulmonary disease (COPD), and similar chronic conditions. CFS often affects patients in cycles: Patients will have periods of illness followed by periods of relative well-being. For some patients, symptoms may diminish or even go into complete remission; however, they often recur at a later point in time. This pattern of remission and relapse makes CFS especially hard for patients to manage. Patients who are in remission may be tempted to overdo activities when they're feeling better, but this overexertion may actually contribute to a relapse. The percentage of CFS patients who recover is unknown, but there is some evidence to indicate that patients benefit when accompanying conditions are identified and treated and when symptoms are managed. High-quality health care is important.

Question: What are the treatments for Tuberculosis (TB) ? Answer:

Tuberculosis (TB) is caused by a bacterium called Mycobacterium tuberculosis. The bacteria usually attack the lungs, but TB bacteria can attack any part of the body such as the kidney, spine, and brain. If not treated properly, TB disease can be fatal. Not everyone infected with TB bacteria becomes sick. As a result, two TB-related conditions exist: latent TB infection and TB disease. Both latent TB infection and TB disease can be treated. Learn more about the difference between latent TB infection and TB disease. Treatment for Latent TB Infection People with latent TB infection have TB bacteria in their bodies, but they are not sick because the bacteria are not active. People with latent TB infection do not have symptoms, and they cannot spread TB bacteria to others. However, if TB bacteria become active in the body and multiply, the person will go from having latent TB infection to being sick with TB disease. For this reason, people with latent TB infection are often prescribed treatment to prevent them from developing TB disease. Treatment of latent TB infection is essential for controlling and eliminating TB in the United States. Because there are less bacteria in a person with latent TB infection, treatment is much easier. Four regimens are approved for the treatment of latent TB infection. The medications used to treat latent TB infection include: - isoniazid (INH) - rifampin (RIF) - rifapentine (RPT) Certain groups of people (such as people with weakened immune systems) are at very high risk of developing TB disease once infected with TB bacteria. Every effort should be made to begin appropriate treatment and to ensure completion of the entire course of treatment for latent TB infection. More: Treatment for Latent TB Infection Treatment for TB Disease TB bacteria become active (multiplying in the body) if the immune system can't stop them from growing. When TB bacteria are active, this is called TB disease. TB disease will make a person sick. People with TB disease may spread the bacteria to people with whom they spend many hours. TB disease can be treated by taking several drugs for 6 to 9 months. There are 10 drugs currently approved by the U.S. Food and Drug Administration (FDA) for treating TB. Of the approved drugs, the first-line anti-TB agents that form the core of treatment regimens include: - isoniazid (INH) - rifampin (RIF) - ethambutol (EMB) - pyrazinamide (PZA) Regimens for treating TB disease have an initial phase of 2 months, followed by a choice of several options for the continuation phase of either 4 or 7 months (total of 6 to 9 months for treatment). Learn more about the continuation phase of treatment. It is very important that people who have TB disease finish the medicine, taking the drugs exactly as prescribed. If they stop taking the drugs too soon, they can become sick again; if they do not take the drugs correctly, the TB bacteria that are still alive may become resistant to those drugs. TB that is resistant to drugs is harder and more expensive to treat. More: Treatment for TB Disease Treatment Completion Treatment completion is determined by the number of doses ingested over a given period of time. Although basic TB regimens are broadly applicable, there are modifications that should be made under special circumstances (such as people with HIV infection, drug resistance, pregnancy, or treatment of children).

Question: What are the symptoms of Alpha-mannosidosis type 1 ? Answer:

What are the signs and symptoms of Alpha-mannosidosis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-mannosidosis 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) Abnormality of the tongue 90% Cataract 90% Coarse facial features 90% Cognitive impairment 90% Craniofacial hyperostosis 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% Hearing impairment 90% Hepatomegaly 90% Opacification of the corneal stroma 90% Skeletal dysplasia 90% Splenomegaly 90% Type II diabetes mellitus 90% Abnormality of the helix 50% Abnormality of the hip bone 50% Abnormality of the palate 50% Bowing of the long bones 50% Dental malocclusion 50% Gingival overgrowth 50% Hernia of the abdominal wall 50% Hypertelorism 50% Kyphosis 50% Macrotia 50% Muscular hypotonia 50% Otitis media 50% Prominent supraorbital ridges 50% Scoliosis 50% Short neck 50% Arthritis 7.5% Aseptic necrosis 7.5% Hallucinations 7.5% Increased intracranial pressure 7.5% Macrocephaly 7.5% Mandibular prognathia 7.5% Recurrent respiratory infections 7.5% Synostosis of joints 7.5% Abnormality of the rib cage - Autosomal recessive inheritance - Babinski sign - Broad forehead - Cerebellar atrophy - Decreased antibody level in blood - Depressed nasal ridge - Dysarthria - Dysostosis multiplex - Epicanthus - Femoral bowing - Flat occiput - Frontal bossing - Gait ataxia - Growth delay - Hyperreflexia - Hypertrichosis - Hypoplasia of midface - Impaired smooth pursuit - Increased vertebral height - Inguinal hernia - Intellectual disability - Limb ataxia - Low anterior hairline - Macroglossia - Malar flattening - Nystagmus - Pectus carinatum - Progressive retinal degeneration - Recurrent bacterial infections - Sensorineural hearing impairment - Spasticity - Spinocerebellar tract disease in lower limbs - Spondylolisthesis - Thick eyebrow - Thickened calvaria - Thoracolumbar kyphosis - Vacuolated lymphocytes - Widely spaced teeth - 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 Cerebrotendinous xanthomatosis ? Answer:

What are the signs and symptoms of Cerebrotendinous xanthomatosis? The symptoms associated cerebrotendinous xanthomatosis are listed below, including the typical age when each symptom appears. Chronic diarrhea (infancy) Cataracts (early childhood) Mental impairment (infancy or at puberty) Xanthomas (adolescents to early adulthood) Dementia with slow deterioration in intellectual abilities (early adulthood) Spasticity (early adulthood) Cerebellar signs such as intention tremor, difficulty with fast hand movements, nystagmus, truncal ataxia, and rhomberg's sign) (early adulthood) Behavioral changes (early adulthood) Hallucinations (early adulthood) Agitation (early adulthood) Aggression (early adulthood) Depression (early adulthood) Suicide attempt (early adulthood) Other symptoms may include dystonia, atypical parkinsonism, seizures, and peripheral neuropathy. The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebrotendinous xanthomatosis. 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) Cataract 90% Cognitive impairment 90% Involuntary movements 90% Multiple lipomas 90% Abnormal pyramidal signs 50% Abnormality of extrapyramidal motor function 50% Developmental regression 50% Hallucinations 50% Hyperreflexia 50% Hypertonia 50% Muscle weakness 50% Neurological speech impairment 50% Peripheral neuropathy 50% Tremor 50% Abnormality of the liver 7.5% Cerebral calcification 7.5% EEG abnormality 7.5% Limitation of joint mobility 7.5% Malabsorption 7.5% Nephrolithiasis 7.5% Seizures 7.5% Abnormality of central somatosensory evoked potentials - Abnormality of cholesterol metabolism - Abnormality of the dentate nucleus - Abnormality of the periventricular white matter - Angina pectoris - Ataxia - Autosomal recessive inheritance - Cerebellar atrophy - Cerebral atrophy - Cholelithiasis - Delusions - Dementia - Diarrhea - EEG with generalized slow activity - EMG: axonal abnormality - Intellectual disability - Myocardial infarction - Optic disc pallor - Osteoporosis - Pseudobulbar paralysis - Respiratory insufficiency - Spasticity - Tendon xanthomatosis - Xanthelasma - 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 Cardiogenic Shock ? Answer:

The first step in diagnosing cardiogenic shock is to identify that a person is in shock. At that point, emergency treatment should begin. Once emergency treatment starts, doctors can look for the specific cause of the shock. If the reason for the shock is that the heart isn't pumping strongly enough, then the diagnosis is cardiogenic shock. Tests and Procedures To Diagnose Shock and Its Underlying Causes Blood Pressure Test Medical personnel can use a simple blood pressure cuff and stethoscope to check whether a person has very low blood pressure. This is the most common sign of shock. A blood pressure test can be done before the person goes to a hospital. Less serious conditions also can cause low blood pressure, such as fainting or taking certain medicines, such as those used to treat high blood pressure. EKG (Electrocardiogram) An EKG is a simple 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 each part of the heart. Doctors use EKGs to diagnose severe heart attacks and monitor the heart's condition. Echocardiography Echocardiography (echo) uses sound waves to create a moving picture of the heart. The test provides information about the size and shape of the heart and how well the 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. Chest X Ray A chest x ray takes pictures of organs and structures in the chest, including the heart, lungs, and blood vessels. This test shows whether the heart is enlarged or whether fluid is present in the lungs. These can be signs of cardiogenic shock. Cardiac Enzyme Test When cells in the heart die, they release enzymes into the blood. These enzymes are called markers or biomarkers. Measuring these markers can show whether the heart is damaged and the extent of the damage. Coronary Angiography Coronary angiography (an-jee-OG-ra-fee) is an x-ray exam of the heart and blood vessels. The doctor passes a catheter (a thin, flexible tube) through an artery in the leg or arm to the heart. The catheter can measure the pressure inside the heart chambers. Dye that can be seen on an x-ray image is injected into the bloodstream through the tip of the catheter. The dye lets the doctor study the flow of blood through the heart and blood vessels and see any blockages. Pulmonary Artery Catheterization For this procedure, a catheter is inserted into a vein in the arm or neck or near the collarbone. Then, the catheter is moved into the pulmonary artery. This artery connects the right side of the heart to the lungs. The catheter is used to check blood pressure in the pulmonary artery. If the blood pressure is too high or too low, treatment may be needed. Blood Tests Some blood tests also are used to help diagnose cardiogenic shock, including: Arterial blood gas measurement. For this test, a blood sample is taken from an artery. The sample is used to measure oxygen, carbon dioxide, and pH (acidity) levels in the blood. Certain levels of these substances are associated with shock. Tests that measure the function of various organs, such as the kidneys and liver. If these organs aren't working well, they may not be getting enough oxygen-rich blood. This could be a sign of cardiogenic shock.

Question: What are the treatments for Nerve Disease and Bladder Control ? Answer:

The treatment for a bladder control problem depends on the cause of the nerve damage and the type of voiding dysfunction that results. In the case of overactive bladder, your doctor may suggest a number of strategies, including bladder training, electrical stimulation, drug therapy, and, in severe cases where all other treatments have failed, surgery. Bladder training. Your doctor may ask you to keep a bladder diary-a record of your fluid intake, trips to the bathroom, and episodes of urine leakage. This record may indicate a pattern and suggest ways to avoid accidents by making a point of using the bathroom at certain times of the day-a practice called timed voiding. As you gain control, you can extend the time between trips to the bathroom. Bladder training also includes Kegel exercises to strengthen the muscles that hold in urine. Electrical stimulation. Mild electrical pulses can be used to stimulate the nerves that control the bladder and sphincter muscles. Depending on which nerves the doctor plans to treat, these pulses can be given through the vagina or anus, or by using patches on the skin. Another method is a minor surgical procedure to place the electric wire near the tailbone. This procedure involves two steps. First, the wire is placed under the skin and connected to a temporary stimulator, which you carry with you for several days. If your condition improves during this trial period, then the wire is placed next to the tailbone and attached to a permanent stimulator under your skin. The Food and Drug Administration (FDA) has approved this device, marketed as the InterStim system, to treat urge incontinence, urgency-frequency syndrome, and urinary retention in patients for whom other treatments have not worked. Drug therapy. Different drugs can affect the nerves and muscles of the urinary tract in different ways. - Drugs that relax bladder muscles and prevent bladder spasms include oxybutynin chloride (Ditropan), tolterodine (Detrol), hyoscyamine (Levsin), and propantheline bromide (Pro-Banthine), which belong to the class of drugs called anticholinergics. Their most common side effect is dry mouth, although large doses may cause blurred vision, constipation, a faster heartbeat, and flushing. A new patch delivery system for oxybutynin (Oxytrol) may decrease side effects. Ditropan XL and Detrol LA are timed-release formulations that deliver a low level of the drug continuously in the body. These drugs have the advantage of once-a-day administration. In 2004, the FDA approved trospium chloride (Sanctura), darifenacin (Enablex), and solifenacin succinate (VESIcare) for the treatment of overactive bladder. - Drugs for depression that also relax bladder muscles include imipramine hydrochloride (Tofranil), a tricyclic antidepressant. Side effects may include fatigue, dry mouth, dizziness, blurred vision, nausea, and insomnia. Additional drugs are being evaluated for the treatment of overactive bladder and may soon receive FDA approval. Surgery. In extreme cases, when incontinence is severe and other treatments have failed, surgery may be considered. The bladder may be made larger through an operation known as augmentation cystoplasty, in which a part of the diseased bladder is replaced with a section taken from the patient's bowel. This operation may improve the ability to store urine but may make the bladder more difficult to empty, making regular catheterization necessary. Additional risks of surgery include the bladder breaking open and leaking urine into the body, bladder stones, mucus in the bladder, and infection.

Question: What are the stages of Pancreatic Cancer ? Answer:

Key Points - Tests and procedures to stage pancreatic cancer are usually done at the same time as diagnosis. - 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 pancreatic cancer: - Stage 0 (Carcinoma in Situ) - Stage I - Stage II - Stage III - Stage IV Tests and procedures to stage pancreatic cancer are usually done at the same time as diagnosis. The process used to find out if cancer has spread within the pancreas 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 pancreatic cancer are often also used to stage the disease. See the General Information section for more information. 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 pancreatic cancer spreads to the liver, the cancer cells in the liver are actually pancreatic cancer cells. The disease is metastatic pancreatic cancer, not liver cancer. The following stages are used for pancreatic cancer: Stage 0 (Carcinoma in Situ) In stage 0, abnormal cells are found in the lining of the pancreas. 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 is found in the pancreas only. Stage I is divided into stage IA and stage IB, based on the size of the tumor. - Stage IA: The tumor is 2 centimeters or smaller. - Stage IB: The tumor is larger than 2 centimeters. Stage II In stage II, cancer may have spread to nearby tissue and organs, and may have spread to lymph nodes near the pancreas. Stage II is divided into stage IIA and stage IIB, based on where the cancer has spread. - Stage IIA: Cancer has spread to nearby tissue and organs but has not spread to nearby lymph nodes. - Stage IIB: Cancer has spread to nearby lymph nodes and may have spread to nearby tissue and organs. Stage III In stage III, cancer has spread to the major blood vessels near the pancreas and may have spread to nearby lymph nodes. Stage IV In stage IV, cancer may be of any size and has spread to distant organs, such as the liver, lung, and peritoneal cavity. It may have also spread to organs and tissues near the pancreas or to lymph nodes.

Question: What are the treatments for Renal Artery Stenosis ? Answer:

Treatment for RAS includes lifestyle changes, medications, and surgery and aims to - prevent RAS from getting worse - treat RVH - relieve the blockage of the renal arteries RAS that has not led to RVH or caused a significant blockage of the artery may not need treatment. RAS that needs to be treated, also called critical RAS, is defined by the American Heart Association as a reduction by more than 60 percent in the diameter of the renal artery.1 However, health care providers are not exactly sure what degree of blockage will cause significant problems. Lifestyle Changes The first step in treating RAS is making lifestyle changes that promote healthy blood vessels throughout the body, including the renal arteries. The best ways to keep plaque from building up in the arteries are to exercise, maintain a healthy body weight, and choose healthy foods. People who smoke should quit to help protect their kidneys and other internal organs. Medications People with RVH may need to take medications thatwhen taken as prescribed by their health care providerlower blood pressure and can also significantly slow the progression of kidney disease. Two types of blood pressure-lowering medications, angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs), have proven effective in slowing 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 diuretica medication that helps the kidneys remove fluid from the bloodmay be prescribed. Beta blockers, calcium channel blockers, and other blood pressure medications may also be needed. Some people with RAS cannot take an ACE inhibitor or ARB due to the effects on the kidneys. People with RAS who are prescribed an ACE inhibitor or ARB should have their kidney function checked within a few weeks of starting the medication. A cholesterol-lowering medication to prevent plaque from building up in the arteries and a blood-thinner, such as aspirin, to help the blood flow more easily through the arteries may also be prescribed. Surgery Although surgery has been used in the past for treatment of RAS due to atherosclerosis, recent studies have not shown improved outcomes with surgery compared with medication. However, surgery may be recommended for people with RAS caused by FMD or RAS that does not improve with medication. Different types of surgery for RAS include the following. The procedures are performed in a hospital by a vascular surgeona doctor who specializes in repairing blood vessels. Anesthesia is needed. - Angioplasty and stenting. Angioplasty is a procedure in which a catheter is put into the renal artery, usually through the groin, just as in a catheter angiogram. In addition, for angioplasty, a tiny balloon at the end of the catheter can be inflated to flatten the plaque against the artery wall. A small mesh tube, called a stent, may then be positioned inside the artery to keep plaque flattened and the artery open. People with RAS caused by FMD may be successfully treated with angioplasty alone, while angioplasty with stenting has a better outcome for people with RAS caused by atherosclerosis. - Endarterectomy or bypass surgery. In an endarterectomy, the plaque is cleaned out of the artery, leaving the inside lining smooth and clear. To create a bypass, a vein or synthetic tube is used to connect the kidney to the aorta. This new path serves as an alternate route for blood to flow around the blocked artery into the kidney. These procedures are not performed as often as in the past due to a high risk of complications during and after the procedure.

Question: What is (are) Hajdu-Cheney syndrome ? Answer:

Hajdu-Cheney syndrome is a rare disorder that can affect many parts of the body, particularly the bones. Loss of bone tissue from the hands and feet (acro-osteolysis) is a characteristic feature of the condition. The fingers and toes are short and broad, and they may become shorter over time as bone at the tips continues to break down. Bone loss in the fingers can interfere with fine motor skills, such as picking up small objects. Bone abnormalities throughout the body are common in Hajdu-Cheney syndrome. Affected individuals develop osteoporosis, which causes the bones to be brittle and prone to fracture. Many affected individuals experience breakage (compression fractures) of the spinal bones (vertebrae). Some also develop abnormal curvature of the spine (scoliosis or kyphosis). Hajdu-Cheney syndrome also affects the shape and strength of the long bones in the arms and legs. The abnormalities associated with this condition lead to short stature. Hajdu-Cheney syndrome also causes abnormalities of the skull bones, including the bones of the face. The shape of the skull is often described as dolichocephalic, which means it is elongated from back to front. In many affected individuals, the bone at the back of the skull bulges outward, causing a bump called a prominent occiput. Distinctive facial features associated with this condition include widely spaced and downward-slanting eyes, eyebrows that grow together in the middle (synophrys), low-set ears, a sunken appearance of the middle of the face (midface hypoplasia), and a large space between the nose and upper lip (a long philtrum). Some affected children are born with an opening in the roof of the mouth called a cleft palate or with a high arched palate. In affected adults, the facial features are often described as "coarse." Other features of Hajdu-Cheney syndrome found in some affected individuals include joint abnormalities, particularly an unusually large range of joint movement (hypermobility); dental problems; hearing loss; a deep, gravelly voice; excess body hair; recurrent infections in childhood; heart defects; and kidney abnormalities such as the growth of multiple fluid-filled cysts (polycystic kidneys). Some people with this condition have delayed development in childhood, but the delays are usually mild. The most serious complications of Hajdu-Cheney syndrome, which occur in about half of all affected individuals, are abnormalities known as platybasia and basilar invagination. Platybasia is a flattening of the base of the skull caused by thinning and softening of the skull bones. Basilar invagination occurs when the softened bones allow part of the spine to protrude abnormally through the opening at the bottom of the skull, pushing into the lower parts of the brain. These abnormalities can lead to severe neurological problems, including headaches, abnormal vision and balance, a buildup of fluid in the brain (hydrocephalus), abnormal breathing, and sudden death. The signs and symptoms of Hajdu-Cheney syndrome vary greatly among affected individuals, even among members of the same family. Many of the disorder's features, such as acro-osteolysis and some of the characteristic facial features, are not present at birth but become apparent in childhood or later. The risk of developing platybasia and basilar invagination also increases over time. The features of Hajdu-Cheney syndrome overlap significantly with those of a condition called serpentine fibula-polycystic kidney syndrome (SFPKS). Although they used to be considered separate disorders, researchers discovered that the two conditions are associated with mutations in the same gene. Based on these similarities, many researchers now consider Hajdu-Cheney syndrome and SFPKS to be variants of the same condition.

Question: What are the symptoms of Gordon syndrome ? Answer:

What are the signs and symptoms of Gordon syndrome? Gordon syndrome belongs to a group of conditions known as the distal arthrogryposes, which are characterized by stiffness and impaired mobility of certain joints of the lower arms and legs including the wrists, elbows, knees and/or ankles. The range and severity of features in affected individuals can vary. Most infants with Gordon syndrome have several fingers that are permanently fixed in a flexed position (camptodactyly), which may result in limited range of motion and compromised manual dexterity. Affected infants may also have clubfoot. Approximately 20-30% have cleft palate (incomplete closure of the roof of the mouth). Other signs and symptoms in some individuals may include a bifid uvula (abnormal splitting of the soft hanging tissue at the back of the throat); short stature; dislocation of the hip; abnormal backward curvature of the upper spine (lordosis); and/or kyphoscoliosis. In addition, some affected individuals may have drooping of the eyelids (ptosis); epicanthal folds; syndactyly (webbing of the fingers and/or toes); abnormal skin patterns on the hands and feet (dermatoglyphics); and/or a short, webbed neck (pterygium colli). Some affected males have undescended testes (cryptorchidism). Cognitive development is typically normal. The Human Phenotype Ontology provides the following list of signs and symptoms for Gordon 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) Camptodactyly of finger 90% Talipes 90% Skeletal muscle atrophy 50% Cleft palate 7.5% Clinodactyly of the 5th finger 7.5% Cryptorchidism 7.5% Facial asymmetry 7.5% Finger syndactyly 7.5% Hearing impairment 7.5% Limitation of joint mobility 7.5% Pectus excavatum 7.5% Scoliosis 7.5% Short stature 7.5% Ophthalmoplegia 5% Abnormality of the rib cage - Autosomal dominant inheritance - Bifid uvula - Camptodactyly of toe - Congenital hip dislocation - Cutaneous finger syndactyly - Decreased hip abduction - Distal arthrogryposis - Down-sloping shoulders - Epicanthus - High palate - Knee flexion contracture - Kyphoscoliosis - Lumbar hyperlordosis - Overlapping toe - Ptosis - Short neck - Short phalanx of finger - Single transverse palmar crease - Submucous cleft hard palate - Talipes equinovarus - Thoracolumbar scoliosis - Ulnar deviation of the hand or of fingers of the hand - 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 research (or clinical trials) is being done for Plasma Cell Neoplasms (Including Multiple Myeloma) ? Answer:

New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. New combinations of therapies Clinical trials are studying different combinations of biologic therapy, chemotherapy, steroid therapy, and drugs. New treatment regimens using thalidomide or lenalidomide are also being studied. Supportive care is given to lessen the problems caused by the disease or its treatment. This therapy controls problems or side effects caused by the disease or its treatment, and improves quality of life. Supportive care is given to treat problems caused by multiple myeloma and other plasma cell neoplasms. Supportive care may include the following: - Plasmapheresis: If the blood becomes thick with extra antibody proteins and interferes with circulation, plasmapheresis is done to remove extra plasma and antibody proteins from the blood. In this procedure blood is removed from the patient and sent through a machine that separates the plasma (the liquid part of the blood) from the blood cells. The patient's plasma contains the unneeded antibodies and is not returned to the patient. The normal blood cells are returned to the bloodstream along with donated plasma or a plasma replacement. Plasmapheresis does not keep new antibodies from forming. - High-dose chemotherapy with stem cell transplant: If amyloidosis occurs, treatment may include high-dose chemotherapy followed by stem cell transplant using the patient's own stem cells. - Biologic therapy: Biologic therapy with thalidomide, lenalidomide, or pomalidomide is given to treat amyloidosis. - Targeted therapy: Targeted therapy with proteasome inhibitors is given to treat amyloidosis. - Radiation therapy: Radiation therapy is given for bone lesions of the spine. - Chemotherapy: Chemotherapy is given to reduce back pain from osteoporosis or compression fractures of the spine. - Bisphosphonate therapy: Bisphosphonate therapy is given to slow bone loss and reduce bone pain. See the following PDQ summaries for more information on bisphosphonates and problems related to their use: - Cancer Pain - Oral Complications of Chemotherapy and Head/Neck Radiation Patients may want to think about taking part in a clinical trial. For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. Patients can enter clinical trials before, during, or after starting their cancer treatment. Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.

Question: What are the symptoms of Spondyloepimetaphyseal dysplasia joint laxity ? Answer:

What are the signs and symptoms of Spondyloepimetaphyseal dysplasia joint laxity? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia joint laxity. 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 bone mineral density 90% Abnormality of the metaphyses 90% Blue sclerae 90% Brachydactyly syndrome 90% Elbow dislocation 90% Hyperextensible skin 90% Joint hypermobility 90% Kyphosis 90% Long philtrum 90% Micromelia 90% Platyspondyly 90% Proptosis 90% Scoliosis 90% Short stature 90% Short toe 90% Talipes 90% Genu valgum 80% Abnormal vertebral ossification 50% Cleft palate 50% Hyperlordosis 50% High palate 12% Abnormality of the cardiac septa 7.5% Aganglionic megacolon 7.5% Cognitive impairment 7.5% Ectopia lentis 7.5% Exostoses 7.5% Myopia 7.5% Carpal synostosis 5% 11 pairs of ribs - Advanced ossification of carpal bones - Atria septal defect - Autosomal recessive inheritance - Bicuspid aortic valve - Broad distal phalanx of finger - Congenital myopia - Coxa valga - Cupped ribs - Decreased body weight - Delayed proximal femoral epiphyseal ossification - Dislocated radial head - Flared iliac wings - Flared metaphysis - Flaring of rib cage - Flat face - Flat midface - Flexion contracture - Fragile skin - Hallux valgus - Hip dislocation - Hip Subluxation - Hypoplastic iliac body - Irregular vertebral endplates - Joint laxity - Kyphoscoliosis - Large iliac wings - Long upper lip - Malar flattening - Mitral regurgitation - Muscular hypotonia - Osteoporosis - Oval face - Ovoid vertebral bodies - Paraplegia - Pathologic fracture - Pes planus - Prominent forehead - Radial bowing - Radial head subluxation - Severe short stature - Short femoral neck - Short long bone - Short metacarpal - Short nail - Short neck - Slender long bone - Soft, doughy skin - Sparse scalp hair - Spinal cord compression - Spondyloepimetaphyseal dysplasia - Talipes equinovarus - 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 is (are) Childhood Brain and Spinal Cord Tumors ? Answer:

Key Points - A childhood brain or spinal cord tumor is a disease in which abnormal cells form in the tissues of the brain or spinal cord. - The brain controls many important body functions. - The spinal cord connects the brain with nerves in most parts of the body. - Brain and spinal cord tumors are a common type of childhood cancer. - The cause of most childhood brain and spinal cord tumors is unknown. - The signs and symptoms of childhood brain and spinal cord tumors are not the same in every child. - Tests that examine the brain and spinal cord are used to detect (find) childhood brain and spinal cord tumors. - Most childhood brain tumors are diagnosed and removed in surgery. - Some childhood brain and spinal cord tumors are diagnosed by imaging tests. - Certain factors affect prognosis (chance of recovery). A childhood brain or spinal cord tumor is a disease in which abnormal cells form in the tissues of the brain or spinal cord. There are many types of childhood brain and spinal cord tumors. The tumors are formed by the abnormal growth of cells and may begin in different areas of the brain or spinal cord. The tumors may be benign (not cancer) or malignant (cancer). Benign brain tumors grow and press on nearby areas of the brain. They rarely spread into other tissues. Malignant brain tumors are likely to grow quickly and spread into other brain tissue. 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. Both benign and malignant brain tumors can cause signs or symptoms and need treatment. Together, the brain and spinal cord make up the central nervous system (CNS). The brain controls many important body functions. The brain has three major parts: - The cerebrum is the largest part of the brain. It is at the top of the head. The cerebrum controls thinking, learning, problem solving, emotions, speech, reading, writing, and voluntary movement. - The cerebellum is in the lower back of the brain (near the middle of the back of the head). It controls movement, balance, and posture. - The brain stem connects the brain to the spinal cord. It is in the lowest part of the brain (just above the back of the neck). The brain stem controls breathing, heart rate, and the nerves and muscles used in seeing, hearing, walking, talking, and eating. The spinal cord connects the brain with nerves in most parts of the body. The spinal cord is a column of nerve tissue that runs from the brain stem down the center of the back. It is covered by three thin layers of tissue called membranes. These membranes are surrounded by the vertebrae (back bones). Spinal cord nerves carry messages between the brain and the rest of the body, such as a message from the brain to cause muscles to move or a message from the skin to the brain to feel touch. Brain and spinal cord tumors are a common type of childhood cancer. Although cancer is rare in children, brain and spinal cord tumors are the third most common type of childhood cancer, after leukemia and lymphoma. Brain tumors can occur in both children and adults. Treatment for children is usually different than treatment for adults. (See the PDQ summary on Adult Central Nervous System Tumors Treatment for more information about the treatment of adults.) This summary describes the treatment of primary brain and spinal cord tumors (tumors that begin in the brain and spinal cord). Treatment of metastatic brain and spinal cord tumors is not covered in this summary. Metastatic tumors are formed by cancer cells that begin in other parts of the body and spread to the brain or spinal cord.

Question: What are the symptoms of Greig cephalopolysyndactyly syndrome ? Answer:

What are the signs and symptoms of Greig cephalopolysyndactyly syndrome? The symptoms of Greig cephalopolysyndactyly syndrome (GCPS) are highly variable, ranging from mild to severe. People with this condition typically have limb anomalies, which may include one or more extra fingers or toes (polydactyly), an abnormally wide thumb or big toe (hallux), and the skin between the fingers and toes may be fused (cutaneous syndactyly). This disorder is also characterized by widely spaced eyes (ocular hypertelorism), an abnormally large head size (macrocephaly), and a high, prominent forehead. Rarely, affected individuals may have more serious medical problems including seizures, developmental delay, and intellectual disability. The Human Phenotype Ontology provides the following list of signs and symptoms for Greig cephalopolysyndactyly 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) 1-3 toe syndactyly 90% Macrocephaly 90% Postaxial hand polydactyly 90% Preaxial foot polydactyly 90% Broad hallux 89% Wide nasal bridge 79% High forehead 70% Frontal bossing 58% Abnormality of the nose 50% Accelerated skeletal maturation 50% Finger syndactyly 50% Hypertelorism 50% Telecanthus 50% Toe syndactyly 50% 3-4 finger syndactyly 33% Broad hallux phalanx 33% Broad thumb 33% Abnormal heart morphology 7.5% Abnormality of muscle fibers 7.5% Agenesis of corpus callosum 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Camptodactyly of toe 7.5% Cognitive impairment 7.5% Congenital diaphragmatic hernia 7.5% Craniosynostosis 7.5% Cryptorchidism 7.5% Delayed cranial suture closure 7.5% Hirsutism 7.5% Hydrocephalus 7.5% Hyperglycemia 7.5% Hypospadias 7.5% Inguinal hernia 7.5% Intellectual disability, mild 7.5% Joint contracture of the hand 7.5% Postaxial foot polydactyly 7.5% Preaxial hand polydactyly 7.5% Seizures 7.5% Umbilical hernia 7.5% Metopic synostosis 5% Autosomal dominant inheritance - Dolichocephaly - Trigonocephaly - Variable expressivity - 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 Lung Cancer ? Answer:

Common Signs and Symptoms When lung cancer first develops, there may be no symptoms at all. But if the cancer grows, it can cause changes that people should watch for. Common signs and symptoms of lung cancer include: - a cough that doesn't go away and gets worse over time - constant chest pain - coughing up blood - shortness of breath, wheezing, or hoarseness - repeated problems with pneumonia or bronchitis - swelling of the neck and face - loss of appetite or weight loss - fatigue. a cough that doesn't go away and gets worse over time constant chest pain coughing up blood shortness of breath, wheezing, or hoarseness repeated problems with pneumonia or bronchitis swelling of the neck and face loss of appetite or weight loss fatigue. These symptoms may be caused by lung cancer or by other conditions. It is important to check with a doctor if you have symptoms because only a doctor can make a diagnosis. Don't wait to feel pain. Early cancer usually doesn't cause pain. Tests for Lung Cancer To better understand a persons chance of developing lung cancer, a doctor first evaluates a person's medical history, smoking history, their exposure to environmental and occupational substances, and family history of cancer. The doctor also performs a physical exam and may order a test to take an image of the chest or other tests. Seeing a spot on an image is usually how a doctor first suspects that lung cancer may be present. If lung cancer is suspected, the doctor may order a test called sputum cytology. This is a simple test where, under a microscope, a doctor examines a sample of mucous cells coughed up from the lungs under a microscope to see if cancer is present. Biopsies to Detect Lung Cancer But to confirm the presence of lung cancer, the doctor must examine fluid or tissue from the lung. This is done through a biopsy -- the removal of a small sample of fluid or tissue for examination under a microscope by a pathologist. A biopsy can show whether a person has cancer. A number of procedures may be used to obtain this tissue. - Bronchoscopy -- The doctor puts a bronchoscope -- a thin, lighted tube -- into the mouth or nose and down through the windpipe to look into the breathing passages. Through this tube, the doctor can collect cells or small samples of tissue. - Needle Aspiration -- The doctor numbs the chest area and inserts a thin needle into the tumor to remove a sample of tissue. - Thoracentesis - Using a needle, the doctor removes a sample of the fluid that surrounds the lungs to check for cancer cells. - Thorascopy or Thoracotomy -- Surgery to open the chest is sometimes needed to diagnose lung cancer. This procedure is a major operation performed in a hospital. Bronchoscopy -- The doctor puts a bronchoscope -- a thin, lighted tube -- into the mouth or nose and down through the windpipe to look into the breathing passages. Through this tube, the doctor can collect cells or small samples of tissue. Needle Aspiration -- The doctor numbs the chest area and inserts a thin needle into the tumor to remove a sample of tissue. Thoracentesis - Using a needle, the doctor removes a sample of the fluid that surrounds the lungs to check for cancer cells. Thorascopy or Thoracotomy -- Surgery to open the chest is sometimes needed to diagnose lung cancer. This procedure is a major operation performed in a hospital. Other Tests Doctors use imaging methods such as a spiral CT scan (also commonly known as helical CT) to look for signs of cancer. A CT scan, also known as computerized tomography scan, is a series of detailed pictures of areas inside the body. Other tests can include removal of lymph nodes for examination under a microscope to check for cancer cells. Lymph nodes are small, bean-shaped structures found throughout the body. They filter substances in a fluid called lymph and help fight infection and disease.

Question: How to diagnose Polycythemia Vera ? Answer:

Polycythemia vera (PV) may not cause signs or symptoms for years. The disease often is found during routine blood tests done for other reasons. If the results of your blood tests aren't normal, your doctor may want to do more tests. Your doctor will diagnose PV based on your signs and symptoms, your age and overall health, your medical history, a physical exam, and test results. During the physical exam, your doctor will look for signs of PV. He or she will check for an enlarged spleen, red skin on your face, and bleeding from your gums. If your doctor confirms that you have polycythemia, the next step is to find out whether you have primary polycythemia (polycythemia vera) or secondary polycythemia. Your medical history and physical exam may confirm which type of polycythemia you have. If not, you may have tests that check the level of the hormone erythropoietin (EPO) in your blood. People who have PV have very low levels of EPO. People who have secondary polycythemia usually have normal or high levels of EPO. Specialists Involved If your primary care doctor thinks you have PV, he or she may refer you to a hematologist. A hematologist is a doctor who specializes in diagnosing and treating blood diseases and conditions. Diagnostic Tests You may have blood tests to diagnose PV. These tests include a complete blood count (CBC) and other tests, if necessary. Complete Blood Count Often, the first test used to diagnose PV is a CBC. The CBC measures many parts of your blood. This test 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 high level of hemoglobin or hematocrit may be a sign of PV. 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 PV, a blood disorder, an infection, or another condition. In addition to high red blood cell counts, people who have PV also may have high white blood cell and/or platelet counts. Other Blood Tests Blood smear. For this test, a small sample of blood is drawn from a vein, usually in your arm. The blood sample is examined under a microscope. A blood smear can show whether you have a higher than normal number of red blood cells. The test also can show abnormal blood cells that are linked to myelofibrosis and other conditions related to PV. Erythropoietin level. This blood test measures the level of EPO in your blood. EPO is a hormone that prompts your bone marrow to make new blood cells. People who have PV have very low levels of EPO. People who have secondary polycythemia usually have normal or high levels of EPO. Bone Marrow Tests Bone marrow tests can show whether your bone marrow is healthy. These tests also show whether your bone marrow is making normal amounts of 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. If the tests show that your bone marrow is making too many blood cells, it may be a sign that you have PV.

Question: What are the symptoms of Cleidocranial dysplasia ? Answer:

What are the signs and symptoms of Cleidocranial dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleidocranial dysplasia. 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 shoulder 90% Frontal bossing 90% Hypertelorism 90% Increased number of teeth 90% Recurrent respiratory infections 90% Short stature 90% Skeletal dysplasia 90% Wormian bones 90% Abnormality of the ribs 50% Abnormality of the sacrum 50% Brachydactyly syndrome 50% Decreased skull ossification 50% Delayed eruption of teeth 50% Dental malocclusion 50% Hearing impairment 50% Narrow chest 50% Otitis media 50% Reduced bone mineral density 50% Sinusitis 50% Sloping forehead 50% Small face 50% Abnormality of epiphysis morphology 7.5% Abnormality of pelvic girdle bone morphology 7.5% Abnormality of the thumb 7.5% Apnea 7.5% Cleft palate 7.5% Genu valgum 7.5% Macrocephaly 7.5% Recurrent fractures 7.5% Scoliosis 7.5% Tapered finger 7.5% Abnormal facility in opposing the shoulders - Absent frontal sinuses - Absent paranasal sinuses - Aplastic clavicles - Autosomal dominant inheritance - Cervical ribs - Cone-shaped epiphyses of the phalanges of the hand - Coxa vara - Delayed eruption of permanent teeth - Delayed eruption of primary teeth - Delayed pubic bone ossification - Depressed nasal bridge - High palate - Hypoplasia of dental enamel - Hypoplasia of midface - Hypoplastic frontal sinuses - Hypoplastic iliac wing - Hypoplastic scapulae - Increased bone mineral density - Increased susceptibility to fractures - Kyphosis - Large foramen magnum - Long second metacarpal - Malar flattening - Moderately short stature - Narrow palate - Neonatal respiratory distress - Parietal bossing - Persistent open anterior fontanelle - Short clavicles - Short femoral neck - Short middle phalanx of the 2nd finger - Short middle phalanx of the 5th finger - Short ribs - Spondylolisthesis - Spondylolysis - Syringomyelia - Thickened calvaria - Wide pubic symphysis - 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 Tumor necrosis factor receptor-associated periodic syndrome ? Answer:

What are the signs and symptoms of Tumor necrosis factor receptor-associated periodic syndrome? The characteristic feature of TRAPS is recurrent episodes of fever. Episodes may begin at any age, but most often begin in early childhood. Fevers usually last around 3 weeks but can last from days to months. The time between episodes can vary considerably from weeks to years. Fevers are often associated with other symptoms, which may include muscle, joint, and/or abdominal pain; a spreading rash; puffiness and/or swelling around the eyes; and/or inflammation in various other areas of the body including the heart muscle, joints, throat, or mucous membranes. About 25% of people with TRAPS develop amyloidosis, which can lead to kidney or liver failure. The Human Phenotype Ontology provides the following list of signs and symptoms for Tumor necrosis factor receptor-associated periodic 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) Erysipelas 90% Hypermelanotic macule 90% Skin rash 90% Abdominal pain 50% Abnormality of the pericardium 50% Abnormality of the pleura 50% Arthralgia 50% Arthritis 50% Chest pain 50% Constipation 50% Intestinal obstruction 50% Leukocytosis 50% Myalgia 50% Nausea and vomiting 50% Orchitis 50% Periorbital edema 50% Abnormality of the myocardium 7.5% Abnormality of the oral cavity 7.5% Abnormality of the sacroiliac joint 7.5% Alopecia 7.5% Behavioral abnormality 7.5% Bruising susceptibility 7.5% Cellulitis 7.5% Coronary artery disease 7.5% Cranial nerve paralysis 7.5% Diarrhea 7.5% Elevated hepatic transaminases 7.5% Fasciitis 7.5% Hepatomegaly 7.5% Inflammatory abnormality of the eye 7.5% Migraine 7.5% Myositis 7.5% Nephropathy 7.5% Paresthesia 7.5% Peritonitis 7.5% Recurrent pharyngitis 7.5% Splenomegaly 7.5% Vasculitis 7.5% Vertigo 7.5% Visual impairment 7.5% Amyloidosis - Autosomal dominant inheritance - Edema - Elevated erythrocyte sedimentation rate - Episodic fever - Hepatic amyloidosis - Muscle stiffness - 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 C syndrome ? Answer:

What are the signs and symptoms of C syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for C 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) Anteverted nares 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Cryptorchidism 90% Depressed nasal bridge 90% Epicanthus 90% Female pseudohermaphroditism 90% Gingival overgrowth 90% Hypoplasia of the ear cartilage 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Narrow forehead 90% Short neck 90% Short nose 90% Trigonocephaly 90% Upslanted palpebral fissure 90% Abnormality of immune system physiology 50% Cutis laxa 50% Joint dislocation 50% Limitation of joint mobility 50% Micromelia 50% Muscular hypotonia 50% Pectus excavatum 50% Sacral dimple 50% Seizures 50% Short stature 50% Single transverse palmar crease 50% Strabismus 50% Talipes 50% Thin vermilion border 50% Urogenital fistula 50% Abnormal localization of kidney 7.5% Aplasia/Hypoplasia of the abdominal wall musculature 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cleft palate 7.5% Congenital diaphragmatic hernia 7.5% Constipation 7.5% Hand polydactyly 7.5% Multicystic kidney dysplasia 7.5% Omphalocele 7.5% Polyhydramnios 7.5% Renal hypoplasia/aplasia 7.5% Toe syndactyly 7.5% Accessory oral frenulum - Autosomal recessive inheritance - Clinodactyly - Clitoromegaly - Delayed skeletal maturation - Dislocated radial head - Failure to thrive - Fused sternal ossification centers - Hepatomegaly - High palate - Hip dislocation - Low-set ears - Patent ductus arteriosus - Postaxial foot polydactyly - Postaxial hand polydactyly - Posteriorly rotated ears - Radial deviation of finger - Renal cortical cysts - Scoliosis - Short metacarpal - Thick anterior alveolar ridges - Ulnar deviation of finger - Ventricular septal defect - Wide mouth - 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 Congenital Heart Defects ? Answer:

Severe congenital heart defects generally are diagnosed during pregnancy or soon after birth. Less severe defects often aren't diagnosed until children are older. Minor defects often have no signs or symptoms. Doctors may diagnose them based on results from a physical exam and tests done for another reason. Specialists Involved Pediatric cardiologists are doctors who specialize in the care of babies and children who have heart problems. Cardiac surgeons are specialists who repair heart defects using surgery. Physical Exam During a physical exam, the doctor will: Listen to your child's heart and lungs with a stethoscope Look for signs of a heart defect, such as cyanosis (a bluish tint to the skin, lips, or fingernails), shortness of breath, rapid breathing, delayed growth, or signs of heart failure Diagnostic Tests Echocardiography Echocardiography (echo) is a painless test that uses sound waves to create a moving picture of the heart. During the test, the sound waves (called ultrasound) bounce off the structures of the heart. A computer converts the sound waves into pictures on a screen. Echo allows the doctor to clearly see any problem with the way the heart is formed or the way it's working. Echo is an important test for both diagnosing a heart problem and following the problem over time. The test can show problems with the heart's structure and how the heart is reacting to those problems. Echo will help your child's cardiologist decide if and when treatment is needed. During pregnancy, if your doctor suspects that your baby has a congenital heart defect, fetal echo can be done. This test uses sound waves to create a picture of the baby's heart while the baby is still in the womb. Fetal echo usually is done at about 18 to 22 weeks of pregnancy. If your child is diagnosed with a congenital heart defect before birth, your doctor can plan treatment before the baby is born. 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 the heart. An EKG can detect if one of the heart's chambers is enlarged, which can help diagnose a heart problem. Chest X Ray A chest x ray is a painless test that creates pictures of the structures in the chest, such as the heart and lungs. This test can show whether the heart is enlarged. It also can show whether the lungs have extra blood flow or extra fluid, a sign of heart failure. Pulse Oximetry For this test, a small sensor is attached to a finger or toe (like an adhesive bandage). The sensor gives an estimate of how much oxygen is in the blood. Cardiac Catheterization During cardiac catheterization (KATH-e-ter-ih-ZA-shun), a thin, flexible tube called a catheter is put into a vein in the arm, groin (upper thigh), or neck. The tube is threaded to the heart. Special dye is injected through the catheter into a blood vessel or one of the hearts chambers. The dye allows the doctor to see blood flowing through the heart and blood vessels on an x-ray image. The doctor also can use cardiac catheterization to measure the pressure and oxygen level inside the heart chambers and blood vessels. This can help the doctor figure out whether blood is mixing between the two sides of the heart. Cardiac catheterization also is used to repair some heart defects.

Question: What are the stages of Childhood Liver Cancer ? Answer:

Key Points - After childhood liver cancer has been diagnosed, tests are done to find out if cancer cells have spread within the liver or to other parts of the body. - There are two grouping systems for childhood liver cancer. - There are four PRETEXT and POSTTEXT groups: - PRETEXT and POSTTEXT Group I - PRETEXT and POSTTEXT Group II - PRETEXT and POSTTEXT Group III - PRETEXT and POSTTEXT Group IV - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. After childhood liver cancer has been diagnosed, tests are done to find out if cancer cells have spread within the liver or to other parts of the body. The process used to find out if cancer has spread within the liver, to nearby tissues or organs, or to other parts of the body is called staging. In childhood liver cancer, the PRETEXT and POSTTEXT groups are used instead of stage to plan treatment. The results of the tests and procedures done to detect, diagnose, and find out whether the cancer has spread are used to determine the PRETEXT and POSTTEXT groups. There are two grouping systems for childhood liver cancer. Two grouping systems are used for childhood liver cancer: - The PRETEXT group describes the tumor before the patient has treatment. - The POSTTEXT group describes the tumor after the patient has treatment. There are four PRETEXT and POSTTEXT groups: The liver is divided into 4 sections. The PRETEXT and POSTTEXT groups depend on which sections of the liver have cancer. PRETEXT and POSTTEXT Group I In group I, the cancer is found in one section of the liver. Three sections of the liver that are next to each other do not have cancer in them. PRETEXT and POSTTEXT Group II In group II, cancer is found in one or two sections of the liver. Two sections of the liver that are next to each other do not have cancer in them. PRETEXT and POSTTEXT Group III In group III, one of the following is true: - Cancer is found in three sections of the liver and one section does not have cancer. - Cancer is found in two sections of the liver and two sections that are not next to each other do not have cancer in them. PRETEXT and POSTTEXT Group IV In group IV, cancer is found in all four sections of the liver. 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 childhood liver cancer spreads to the lung, the cancer cells in the lung are actually liver cancer cells. The disease is metastatic liver cancer, not lung cancer.

Question: What is (are) Wolfram syndrome ? Answer:

Wolfram syndrome is a condition that affects many of the body's systems. The hallmark features of Wolfram syndrome are high blood sugar levels resulting from a shortage of the hormone insulin (diabetes mellitus) and progressive vision loss due to degeneration of the nerves that carry information from the eyes to the brain (optic atrophy). People with Wolfram syndrome often also have pituitary gland dysfunction that results in the excretion of excessive amounts of urine (diabetes insipidus), hearing loss caused by changes in the inner ear (sensorineural deafness), urinary tract problems, reduced amounts of the sex hormone testosterone in males (hypogonadism), or neurological or psychiatric disorders. Diabetes mellitus is typically the first symptom of Wolfram syndrome, usually diagnosed around age 6. Nearly everyone with Wolfram syndrome who develops diabetes mellitus requires insulin replacement therapy. Optic atrophy is often the next symptom to appear, usually around age 11. The first signs of optic atrophy are loss of color vision and side (peripheral) vision. Over time, the vision problems get worse, and people with optic atrophy are usually blind within approximately 8 years after signs of optic atrophy first begin. In diabetes insipidus, the pituitary gland, which is located at the base of the brain, does not function normally. This abnormality disrupts the release of a hormone called vasopressin, which helps control the body's water balance and urine production. Approximately 70 percent of people with Wolfram syndrome have diabetes insipidus. Pituitary gland dysfunction can also cause hypogonadism in males. The lack of testosterone that occurs with hypogonadism affects growth and sexual development. About 65 percent of people with Wolfram syndrome have sensorineural deafness that can range in severity from deafness beginning at birth to mild hearing loss beginning in adolescence that worsens over time. Sixty to 90 percent of people with Wolfram syndrome have a urinary tract problem. Urinary tract problems include obstruction of the ducts between the kidneys and bladder (ureters), a large bladder that cannot empty normally (high-capacity atonal bladder), disrupted urination (bladder sphincter dyssynergia), and difficulty controlling the flow of urine (incontinence). About 60 percent of people with Wolfram syndrome develop a neurological or psychiatric disorder, most commonly problems with balance and coordination (ataxia), typically beginning in early adulthood. Other neurological problems experienced by people with Wolfram syndrome include irregular breathing caused by the brain's inability to control breathing (central apnea), loss of the sense of smell, loss of the gag reflex, muscle spasms (myoclonus), seizures, reduced sensation in the lower extremities (peripheral neuropathy), and intellectual impairment. Psychiatric disorders associated with Wolfram syndrome include psychosis, episodes of severe depression, and impulsive and aggressive behavior. There are two types of Wolfram syndrome with many overlapping features. The two types are differentiated by their genetic cause. In addition to the usual features of Wolfram syndrome, individuals with Wolfram syndrome type 2 have stomach or intestinal ulcers and excessive bleeding after an injury. The tendency to bleed excessively combined with the ulcers typically leads to abnormal bleeding in the gastrointestinal system. People with Wolfram syndrome type 2 do not develop diabetes insipidus. Wolfram syndrome is often fatal by mid-adulthood due to complications from the many features of the condition, such as health problems related to diabetes mellitus or neurological problems.

Question: What are the symptoms of Danon disease ? Answer:

What are the signs and symptoms of Danon disease? Danon disease is characterized by cardiomyopathy. Cardiomyopathy causes the heart muscle to enlarge or become thicker and more rigid than normal. This may make the heart less able to pump blood through the body and can cause serious complications, including sudden death. People with danon disease may also manifest with high levels of serum creatine kinase, eye/vision abnormalities, or Wolff-Parkinson-White syndrome. Wolff-Parkinson-White syndrome is a condition characterized by abnormal electrical pathways in the heart that cause a disruption of the heart's normal rhythm (arrhythmia). Men with Danon disease tend to develop cardiomyopathy prior to the age of 20, and sometimes in early childhood. Women with Danon disease tend to develop cardiomyopathy later in adulthood, however cases of cardiomyopathy in young girls have been reported in the medical literature. Some women who carry LAMP2 gene mutation never develop any or only very minor symptoms. The following additional signs and symptoms are variably present in people with Danon disease: Learning and development (primarily reported in males, however there has been at least one report of an affected female) Mild intellectual ability Mental retardation Attention deficit disorder Skeletal muscle Exercise intolerance Muscle weakness Eye and vision Peripheral pigmentary retinopathy Lens changes Nearsightedness Abnormal visual fields Signs and symptoms of Danon disease can be very similar to those of hypertrophic cardiomyopathy, even though the underlying disease process differs. You can find detailed information on hypertrophic cardiomyopathy, which includes a brief description of Danon disease, by visiting the following link to GeneReviews. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hyper-card The Human Phenotype Ontology provides the following list of signs and symptoms for Danon disease. 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) Cognitive impairment 90% Gait disturbance 90% Hypertrophic cardiomyopathy 90% Muscle weakness 90% Sudden cardiac death 90% Intellectual disability 70% Arrhythmia - Cardiomegaly - Dilated cardiomyopathy - Elevated serum creatine phosphokinase - EMG: myopathic abnormalities - Exercise intolerance - Exercise-induced muscle cramps - Generalized amyotrophy - Hypokinesia - Myocardial fibrosis - Myocardial necrosis - Pes cavus - Phenotypic variability - Proximal muscle weakness - Visual impairment - Wolff-Parkinson-White syndrome - 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.