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Question: What are the stages of Small Cell Lung Cancer ? Answer:

Key Points - After small cell lung cancer has been diagnosed, tests are done to find out if cancer cells have spread within the chest or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for small cell lung cancer: - Limited-Stage Small Cell Lung Cancer - Extensive-Stage Small Cell Lung Cancer After small cell lung cancer has been diagnosed, tests are done to find out if cancer cells have spread within the chest or to other parts of the body. The process used to find out if cancer has spread within the chest or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. Some of the tests used to diagnose small cell lung cancer are also used to stage the disease. (See the General Information section.) Other tests and procedures that may be used in the staging process include the following: - MRI (magnetic resonance imaging) of the brain: 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, such as the brain, chest or upper abdomen, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. A PET scan and CT scan may be done at the same time. This is called a PET-CT. - Bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones and is detected by a scanner. 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 small cell lung cancer spreads to the brain, the cancer cells in the brain are actually lung cancer cells. The disease is metastatic small cell lung cancer, not brain cancer. The following stages are used for small cell lung cancer: Limited-Stage Small Cell Lung Cancer In limited-stage, cancer is in the lung where it started and may have spread to the area between the lungs or to the lymph nodes above the collarbone. Extensive-Stage Small Cell Lung Cancer In extensive-stage, cancer has spread beyond the lung or the area between the lungs or the lymph nodes above the collarbone to other places in the body.

Question: Who is at risk for Creating a Family Health History? ? Answer:

Diseases Can Have Various Causes Many things influence your overall health and likelihood of developing a disease. Sometimes, it's not clear what causes a disease. Many diseases are thought to be caused by a combination of genetic, lifestyle, and environmental factors. The importance of any particular factor varies from person to person. If you have a disease, does that mean your children and grandchildren will get it, too? Not necessarily. They may have a greater chance of developing the disease than someone without a similar family history. But they are not certain to get the disease. (Watch the video to learn more about why family health history is important. 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.) Health Problems That May Run in Families Common health problems that can run in a family include: - Alzheimer's disease/dementia - arthritis - asthma - blood clots - cancer - depression - diabetes - heart disease - high cholesterol - high blood pressure - pregnancy losses and birth defects - stroke. Alzheimer's disease/dementia arthritis asthma blood clots cancer depression diabetes heart disease high cholesterol high blood pressure pregnancy losses and birth defects stroke. Learn more about the importance of family history in some of these health problems at Diseases, Genetics and Family History. (Center for Disease Control and Prevention) Heritable Diseases Some diseases are clearly heritable. This means the disease comes from a mutation, or harmful change, in a gene inherited from one or both parents. Genes are small structures in your body's cells that determine how you look and tell your body how to work. Examples of heritable diseases are Huntington's disease, cystic fibrosis, and muscular dystrophy. Learn basic information about chromosomes. Learn basic information about DNA. Role of Lifestyle and Environment Genes are not the only things that cause disease. Lifestyle habits and environment also play a major part in developing disease. Diet, weight, physical activity, tobacco and alcohol use, occupation, and where you live can each increase or decrease disease risk. For example, smoking increases the chance of developing heart disease and cancer. For common diseases like heart disease and cancer, habits like smoking or drinking too much alcohol may be more important in causing disease than genes. Sun exposure is the major known environmental factor associated with the development of skin cancer of all types. However, other environmental and genetic factors can also increase a persons risk. The best defense against skin cancer is to encourage sun-protective behaviors, regular skin examinations, and skin self-awareness in an effort to decrease high-risk behaviors and optimize early detection of problems. Learn more about the causes and risk factors for skin cancer. Clues to Your Disease Risk Creating a family health history helps you know about diseases and disease risks. It can also show the way a disease occurs in a family. For example, you may find that a family member had a certain disease at an earlier age than usual (10 to 20 years before most people get it). That can increase other family members' risk. Risk also goes up if a relative has a disease that usually does not affect a certain gender, for example, breast cancer in a man. Certain combinations of diseases within a family -- such as breast and ovarian cancer, or heart disease and diabetes -- also increase the chance of developing those diseases. Some Risk Factors Are Not Apparent Even if they appear healthy, people could be at risk for developing a serious disease that runs in the family. They could have risk factors that they cannot feel, such as high blood pressure. They might not even know the disease runs in their family because they've lost touch with family members with the disease or because other family members with the disease have kept the information private. Another possibility is that family members who might have developed the disease died young in accidents or by other means. They might also be adopted and not share genes with members of their adoptive family. Getting Professional Advice Family members who think they might be at risk for a disease based on their family health history can ask their health care professionals for advice. The professional may order a test to see if the person has the disease or a risk factor for the disease. For instance, a mammogram can detect possible breast cancer, and a colonoscopy can find colon cancer. Many diseases are more treatable if they are caught early. The first step toward better understanding of your family's health is to learn more about the health of close relatives such as parents, brothers and sisters, and children. Creating a family health history is one way to do that.

Question: What are the symptoms of Peutz-Jeghers syndrome ? Answer:

What are the signs and symptoms of Peutz-Jeghers syndrome? Peutz-Jeghers syndrome (PJS) is characterized primarily by an increased risk of growths along the lining of the gastrointestinal tract (called hamartomatous polyps) and certain types of cancer. Polyps are most commonly seen in the small intestines; however, they can also develop in the stomach, large intestines and other parts of the body such as the lungs, gall bladder, nose, and urinary bladder. Although these polyps are generally benign (noncancerous), they can be associated with many health problems including anemia, chronic bleeding, bowel obstruction, and intussusception. PJS-related polyps commonly present in adolescence or early adulthood with approximately a third of affected people experiencing symptoms in the first 10 years of life. People with PJS also have a high lifetime risk of developing cancer. Cancers of the gastrointestinal tract (stomach, small intestine, and colon), breast, pancreas, cervix, ovary, uterus and lungs are among the most commonly reported tumors. Medscape reference offers more specific information regarding the risks for these cancers and the average age of onset. Please click here to view this resource. Most affected people also have characteristic dark blue to dark brown macules around the mouth, eyes, and nostrils; near the anus (perianal); and on the inside of the cheeks (buccal mucosa). These spots may also occur on the hands and feet. They commonly appear during childhood and often fade as the person gets older. The Human Phenotype Ontology provides the following list of signs and symptoms for Peutz-Jeghers 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 pigmentation of the oral mucosa 90% Hypermelanotic macule 90% Intestinal polyposis 90% Lip hyperpigmentation 90% Melanocytic nevus 90% Abdominal pain 7.5% Abnormality of nail color 7.5% Biliary tract neoplasm 7.5% Esophageal neoplasm 7.5% Gastrointestinal hemorrhage 7.5% Gastrointestinal infarctions 7.5% Gynecomastia 7.5% Intestinal obstruction 7.5% Nasal polyposis 7.5% Nausea and vomiting 7.5% Neoplasm of the breast 7.5% Neoplasm of the colon 7.5% Neoplasm of the lung 7.5% Neoplasm of the pancreas 7.5% Neoplasm of the rectum 7.5% Neoplasm of the small intestine 7.5% Neoplasm of the stomach 7.5% Ovarian neoplasm 7.5% Renal neoplasm 7.5% Testicular neoplasm 7.5% Uterine neoplasm 7.5% Abnormality of the mouth - Abnormality of the ureter - Autosomal dominant inheritance - Biliary tract abnormality - Breast carcinoma - Clubbing of fingers - Gastrointestinal carcinoma - Hamartomatous polyposis - Intestinal bleeding - Intussusception - Iron deficiency anemia - Ovarian cyst - Precocious puberty with Sertoli cell tumor - Rectal prolapse - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What is (are) ? Answer:

On this Page General Information What is vancomycin-resistant enterococci? What types of infections does vancomycin-resistant enterococci cause? Are certain people at risk of getting vancomycin-resistant enterococci? What is the treatment for vancomycin-resistant enterococci? How is vancomycin-resistant enterococci spread? How can patients prevent the spread of vancomycin-resistant enterococci? What should a patient do if they think they have vancomycin-resistant enterococci? Recommendations and Guidelines General Information For more images of this bacterium, search the Public Health Image Library What is vancomycin-resistant enterococci? Enteroccocci are bacteria that are normally present in the human intestines and in the female genital tract and are often found in the environment. These bacteria can sometimes cause infections. Vancomycin is an antibiotic that is used to treat some drug-resistant infections caused by enterococci. In some instances, enterococci have become resistant to this drug and thus are called vancomycin-resistant enterococci (VRE). Most VRE infections occur in hospitals. Top of page What types of infections does VRE cause? VRE can live in the human intestines and female genital tract without causing disease (often called colonization). However, sometimes it can cause infections of the urinary tract, the bloodstream, or of wounds associated with catheters or surgical procedures. Top of page Are certain people at risk of getting VRE? The following persons are at increased risk becoming infected with VRE: People who have been previously treated with the antibiotic vancomycin or other antibiotics for long periods of time. People who are hospitalized, particularly when they receive antibiotic treatment for long periods of time. People with weakened immune systems such as patients in intensive care units, or in cancer or transplant wards. People who have undergone surgical procedures such as abdominal or chest surgery. People with medical devices that stay in for some time such as urinary catheters or central intravenous (IV) catheters. People who are colonized with VRE. Top of page What is the treatment for VRE? People with colonized VRE (bacteria are present, but have no symptoms of an infection) do not need treatment. Most VRE infections can be treated with antibiotics other than vancomycin. Laboratory testing of the VRE can determine which antibiotics will work. For people who get VRE infections in their bladder and have urinary catheters, removal of the catheter when it is no longer needed can also help get rid of the infection. Top of page How is VRE spread? VRE is often passed from person to person by the contaminated hands of caregivers. VRE can get onto a caregiver's hands after they have contact with other people with VRE or after contact with contaminated surfaces. VRE can also be spread directly to people after they touch surfaces that are contaminated with VRE. VRE is not spread through the air by coughing or sneezing. Top of page How can patients prevent the spread of VRE? If a patient or someone in their household has VRE, the following are some things they can do to prevent the spread of VRE: Keep their hands clean. Always wash their hands thoroughly after using the bathroom and before preparing food. Clean their hands after contact with persons who have VRE. Wash with soap and water (particularly when visibly soiled) or use alcohol-based hand rubs. Frequently clean areas of the home, such as bathrooms, that may become contaminated with VRE. Wear gloves if hands may come in contact with body fluids that may contain VRE, such as stool or bandages from infected wounds. Always wash their hands after removing gloves. If someone has VRE, be sure to tell healthcare providers so that they are aware of the infection. Healthcare facilities use special precautions to help prevent the spread of VRE to others. Top of page What should patients do if they think they have vancomycin-resistant enterococci (VRE)? Anyone who thinks they have VRE must talk with their healthcare provider. Top of page Recommendations and Guidelines For more information about prevention and treatment of HAIs, see the resources below: Siegel JD, Rhinehart E, Jackson M, et al. The Healthcare Infection Control Practices Advisory Committee (HICPAC). Management of Multidrug-Resistant Organisms In Healthcare Settings, 2006

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

What are the signs and symptoms of Roberts syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Roberts 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 radius 90% Aplasia/Hypoplasia of the thumb 90% Bowing of the long bones 90% Clinodactyly of the 5th finger 90% Hypertelorism 90% Hypoplasia of the zygomatic bone 90% Intrauterine growth retardation 90% Microcephaly 90% Short stature 90% Underdeveloped nasal alae 90% Upper limb phocomelia 90% Abnormality of female external genitalia 50% Aplasia/Hypoplasia of the earlobes 50% Brachydactyly syndrome 50% Cataract 50% Cognitive impairment 50% Cryptorchidism 50% Long penis 50% Oral cleft 50% Premature birth 50% Proptosis 50% Radioulnar synostosis 50% Underdeveloped supraorbital ridges 50% Abnormality of the palate 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Blue sclerae 7.5% Craniosynostosis 7.5% Finger syndactyly 7.5% Glaucoma 7.5% Multicystic kidney dysplasia 7.5% Nystagmus 7.5% Patellar aplasia 7.5% Polyhydramnios 7.5% Sandal gap 7.5% Short neck 7.5% Single transverse palmar crease 7.5% Stillbirth 7.5% Synostosis of carpal bones 7.5% Thrombocytopenia 7.5% Abnormality of the metacarpal bones - Absent earlobe - Accessory spleen - Ankle contracture - Atria septal defect - Autosomal recessive inheritance - Bicornuate uterus - Biliary tract abnormality - Brachycephaly - Cafe-au-lait spot - Cleft eyelid - Cleft palate - Cleft upper lip - Clinodactyly - Clitoromegaly - Cranial nerve paralysis - Cystic hygroma - Elbow flexion contracture - Enlarged labia minora - Frontal encephalocele - High palate - Horseshoe kidney - Hydrocephalus - Hypospadias - Intellectual disability - Knee flexion contracture - Low-set ears - Malar flattening - Microphthalmia - Midface capillary hemangioma - Narrow naris - Oligodactyly (hands) - Opacification of the corneal stroma - Patent ductus arteriosus - Phocomelia - Polycystic kidney dysplasia - Posteriorly rotated ears - Postnatal growth retardation - Premature separation of centromeric heterochromatin - Radial deviation of finger - Severe intrauterine growth retardation - Shallow orbits - Sparse hair - Syndactyly - Talipes equinovalgus - Ventricular septal defect - Wide nasal bridge - Wrist flexion contracture - 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 Renal Artery Stenosis ? Answer:

A health care provider can diagnose RAS by listening to the abdomen with a stethoscope and performing imaging tests. When blood flows through a narrow artery, it sometimes makes a whooshing sound, called a bruit. The health care provider may place a stethoscope on the front or the side of the abdomen to listen for this sound. The absence of this sound, however, does not exclude the possibility of RAS. In some cases, RAS is found when a person has a test for another reason. For example, a health care provider may find RAS during a coronary angiogram for diagnosis of heart problems. A coronary angiogram is a procedure that uses a special dye, called contrast medium, and x rays to see how blood flows through the heart. The following imaging tests are used to diagnose RAS: - Duplex ultrasound. Duplex ultrasound combines traditional ultrasound with Doppler ultrasonography. Traditional ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. Doppler ultrasonography records sound waves reflected off of moving objects, such as blood, to measure their speed and other aspects of how they flow. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging. Anesthesia is not needed. The images can show blockage in the renal artery or blood moving through nearby arteries at a lower-than-normal speed. Ultrasound is noninvasive and low cost. - Catheter angiogram. A catheter angiogram, also called a traditional angiogram, is a special kind of x ray in which a thin, flexible tube called a catheter is threaded through the large arteries, often from the groin, to the artery of interestin this case, the renal artery. The procedure is performed in a hospital or outpatient center by a radiologist. Anesthesia is not needed though a sedative may be given to lessen anxiety during the procedure. Contrast medium is injected through the catheter so the renal artery shows up more clearly on the x ray. Catheter angiogram is the gold standard for diagnosing RAS due to the high quality of the image produced. In addition, severe RAS can be treated during the same visit. However, a catheter angiogram is an invasive procedure, and a person may have side effects from the sedative or contrast medium or may have bleeding or injury to the artery from the catheter. The procedure is also more expensive than other imaging tests. - Computerized tomographic angiography (CTA) scan. CTA scans use a combination of x rays and computer technology to create images. The procedure is performed in an outpatient center or hospital by an x-ray technician, and the images are interpreted by a radiologist. Anesthesia is not needed. Contrast medium is injected into a vein in the persons arm to better see the structure of the arteries. CTA scans require the person to lie on a table that slides into a tunnel-shaped device where the x rays are taken. CTA scans are less invasive than catheter angiograms and take less time. However, the risks from the x-ray radiation still exist, and the test often requires more contrast medium than a catheter angiogram, so it may not be recommended for a person with poor kidney function. - Magnetic resonance angiogram (MRA). MRA uses radio waves and magnets to produce detailed pictures of the bodys internal organs and soft tissues without using x rays. The procedure is performed in an outpatient center or hospital by an x-ray technician, and the images are interpreted by a radiologist. Anesthesia is not needed though light sedation may be used for people with a fear of confined spaces. Contrast medium may be injected into a vein in the persons arm to better see the structure of the arteries. With most MRA scans, the person lies on a table that slides into a tunnel-shaped device that may be open ended or closed at one end; some newer machines are designed to allow the person to lie in a more open space. In addition to providing high-quality images noninvasively, MRA can provide a functional assessment of blood flow and organ function. However, the use of contrast medium for an MRA is not advised for people with poor kidney function because of the risk of complications to the skin and other organs if the kidneys do not remove the contrast medium well enough.

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

The National Institute of Neurological Disorders and Stroke sponsors a wide range of basic and clinical research aimed at finding better ways to prevent, diagnose, and treat stroke, and to restore functions lost as a result of stroke. Preventing Secondary Brain Damage Currently, scientists are studying the risk factors for stroke and the process of brain damage that results from stroke. Some brain damage may be secondary, occurring after the initial death of brain cells caused by the lack of blood flow to the brain tissue. This secondary brain damage results from a toxic reaction to the primary damage. Researchers are studying this toxic reaction and ways to prevent secondary injury to the brain. Scientists hope to develop neuroprotective agents, or drugs that protect the brain, to prevent this damage. Animal Studies Scientists are also conducting stroke studies in animals. By studying stroke in animals, researchers hope to get a better picture of what might be happening in human stroke patients. Scientists can also use animal models to test promising therapies for stroke. If a therapy proves helpful for animals, scientists can consider testing the therapy in humans. One promising area of animal research involves hibernation. The dramatic decrease of blood flow to the brain in hibernating animals is so extensive that it would kill a non-hibernating animal. If scientists can discover how animals hibernate without experiencing brain damage, they may discover ways to stop the brain damage associated with decreased blood flow in stroke patients. Another study used a vaccine that interferes with inflammation inside blood vessels to reduce the frequency and severity of strokes in animals with high blood pressure and a genetic predisposition to stroke. Researchers hope that the vaccine will work in humans and could be used to prevent many of the strokes that occur each year in people with high risk factors. Can the Brain Repair Itself? Scientists also are working to develop new and better ways to help the brain repair itself to restore important functions to stroke patients. New advances in imaging and rehabilitation have shown that the brain can compensate for functions lost as a result of stroke. When cells in an area of the brain responsible for a particular function die after a stroke, the patient becomes unable to perform that function. However, the brain's ability to learn and change, called plasticity, and its ability to rewire the connections between its nerve cells means that it can compensate for lost functions. One part of the brain can actually change functions and take up the more important functions of a disabled part. Clinical Trials Clinical trials are scientific studies using volunteers that give researchers a way to test medical advances in humans. Clinical trials test surgical devices and procedures, medications, and rehabilitation therapies. They also test methods to improve lifestyles and mental and social skills. Clinical trials may compare a new medical approach to a standard one that is already available or to a placebo that contains no active ingredients or to no intervention. Some clinical trials compare interventions that are already available to each other. When a new product or approach is being studied, it is not usually known whether it will be helpful, harmful, or no different than available alternatives (including no intervention). The investigators try to determine the safety and usefulness of the intervention by measuring certain outcomes in the participants. Scientists are using clinical trials to - develop new and more effective treatments for stroke - discover ways to restore blood flow to the brain after stroke - improve recovery after stroke - learn more about the risk factors for stroke. develop new and more effective treatments for stroke discover ways to restore blood flow to the brain after stroke improve recovery after stroke learn more about the risk factors for stroke. Participating in a clinical study contributes to medical knowledge. The results of these studies can make a difference in the care of future patients by providing information about the benefits and risks of therapeutic, preventative, or diagnostic products or interventions. You can find more information about current stroke clinical trials at the NIH Clinical Trials Registry at www.clinicaltrials.gov. You can search for a trial using criteria such as condition or disease, medication or therapy. Each entry includes a trial description, sponsors, purpose, estimated completion date, eligibility criteria, and contact information. You can also call the NIH research study information line at 1-800-411-1222, TTY-1-866-411-1010, or e-mail prpl@mail.cc.nih.gov For more information on stroke, including research sponsored by the National Institute of Neurological Disorders and Stroke, call 1-800-352-9424 or visit the Web site at www.ninds.nih.gov.

Question: What are the treatments for Pulmonary Embolism ? Answer:

Pulmonary embolism (PE) is treated with medicines, procedures, and other therapies. The main goals of treating PE are to stop the blood clot from getting bigger and keep new clots from forming. Treatment may include medicines to thin the blood and slow its ability to clot. If your symptoms are life threatening, your doctor may give you medicine to quickly dissolve the clot. Rarely, your doctor may use surgery or another procedure to remove the clot. Medicines Anticoagulants (AN-te-ko-AG-u-lants), or blood thinners, decrease your blood's ability to clot. They're used to stop blood clots from getting larger and prevent clots from forming. Blood thinners don't break up blood clots that have already formed. (The body dissolves most clots with time.) You can take blood thinners as either a pill, an injection, or through a needle or tube inserted into a vein (called intravenous, or IV, injection). Warfarin is given as a pill. (Coumadin is a common brand name for warfarin.) Heparin is given as an injection or through an IV tube. 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 warfarin starts to work, heparin usually is stopped. Pregnant women usually are treated with heparin only, because warfarin is dangerous for the pregnancy. If you have deep vein thrombosis, treatment with blood thinners usually lasts for 3 to 6months. If you've had blood clots before, you may need a longer period of treatment. If you're being treated for another illness, such as cancer, you may need to take blood thinners as long as PE risk factors are present. The most common side effect of blood thinners is bleeding. This can happen if the medicine thins your blood too much. This side effect can be life threatening. Sometimes the bleeding is internal, which is why people treated with blood thinners usually have routine blood tests. These tests, called PT and PTT tests, measure the blood's ability to clot. These tests also help your doctor make sure you're taking the right amount of medicine. Call your doctor right away if you're bruising or bleeding easily. Thrombin inhibitors are a newer type of blood-thinning medicine. They're used to treat some types of blood clots in people who can't take heparin. Emergency Treatment When PE is life threatening, a doctor may use treatments that remove or break up the blood clot. These treatments are given in an emergency room or hospital. Thrombolytics (THROM-bo-LIT-iks) are medicines that can quickly dissolve a blood clot. They're used to treat large clots that cause severe symptoms. Because thrombolytics can cause sudden bleeding, they're used only in life-threatening situations. Sometimes a doctor may use a catheter (a flexible tube) to reach the blood clot. The catheter is inserted into a vein in the groin (upper thigh) or arm and threaded to the clot in the lung. The doctor may use the catheter to remove the clot or deliver medicine to dissolve it. Rarely, surgery may be needed to remove the blood clot. Other Types of Treatment If you can't take medicines to thin your blood, or if the medicines don't work, your doctor may suggest a vena cava filter. This device keeps blood clots from traveling to your lungs. The filter is inserted inside a large vein called the inferior vena cava. (This vein carries blood from the body back to the heart). The filter catches clots before they travel to the lungs. This type of treatment can prevent PE, but it won't stop other blood clots from forming. Graduated compression stockings can reduce the chronic (ongoing) swelling that a blood clot in the leg may cause. Graduated compression stockings are worn on the legs from the arch of the foot to just above or below the knee. These stockings are tight at the ankle and become looser as they go up the leg. This causes gentle compression (pressure) up the leg. The pressure keeps blood from pooling and clotting.

Question: How to diagnose Gallstones ? Answer:

A health care provider will usually order an ultrasound exam to diagnose gallstones. Other imaging tests may also be used. - Ultrasound exam. 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 offi ce, outpatient center, or hospital, and a radiologista doctor who specializes in medical imaginginterprets the images. Anesthesia is not needed. If gallstones are present, they will be visible in the image. Ultrasound is the most accurate method to detect gallstones. - Computerized tomography (CT) scan. A CT scan is an x ray that produces pictures of the body. A CT scan may include the injection of a special dye, called contrast medium. CT scans use a combination of x rays and computer technology to create three-dimensional (3-D) images. CT scans require the person 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 hospital, and a radiologist interprets the images. Anesthesia is not needed. CT scans can show gallstones or complications, such as infection and blockage of the gallbladder or bile ducts. However, CT scans can miss gallstones that are 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. A specially trained technician performs the procedure in an outpatient center or hospital, and a radiologist interprets the images. Anesthesia is not needed, though people with a fear of confi ned spaces may receive light sedation. An MRI may include the injection of contrast medium. With most MRI machines, the person lies on a table that slides into a tunnel-shaped device that may be open ended or closed at one end; some newer machines allow the person to lie in a more open space. MRIs can show gallstones in the ducts of the biliary system. - Cholescintigraphy. Cholescintigraphyalso called a hydroxyl iminodiacetic acid scan, HIDA scan, or hepatobiliary scanuses an unharmful radioactive material to produce pictures of the biliary system. In cholescintigraphy, the person lies on an exam table and a health care provider injects a small amount of unharmful radioactive material into a vein in the persons arm. The health care provider may also inject a substance that causes the gallbladder to contract. A special camera takes pictures of the radioactive material as it moves through the biliary system. A specially trained technician performs the procedure in an outpatient center or hospital, and a radiologist interprets the images. Anesthesia is not needed. Cholescintigraphy is used to diagnose abnormal contractions of the gallbladder or obstruction of the bile ducts. - Endoscopic retrograde cholangiopancreatography (ERCP). ERCP uses an x ray to look into the bile and pancreatic ducts. After lightly sedating the person, the health care provider inserts an endoscopea small, flexible tube with a light and a camera on the endthrough the mouth into the duodenum and bile ducts. The endoscope is connected to a computer and video monitor. The health care provider injects contrast medium through the tube into the bile ducts, which makes the ducts show up on the monitor. The health care provider performs the procedure in an outpatient center or hospital. ERCP helps the health care provider locate the affected bile duct and the gallstone. The stone is captured in a tiny basket attached to the endoscope and removed. This test is more invasive than other tests and is used selectively. Health care providers also use blood tests to look for signs of infection or in flammation of the bile ducts, gallbladder, pancreas, or liver. A blood test involves drawing blood at a health care providers offi ce or commercial facility and sending the sample to a lab for analysis. Gallstone symptoms may be similar to those of other conditions, such as appendicitis, ulcers, pancreatitis, and gastroesophageal refl ux disease. Sometimes, silent gallstones are found when a person does not have any symptoms. For example, a health care provider may notice gallstones when performing ultrasound for a different reason.

Question: How to diagnose Gastroparesis ? Answer:

Gastroparesis is diagnosed through a physical exam, medical history, blood tests, tests to rule out blockage or structural problems in the GI tract, and gastric emptying tests. Tests may also identify a nutritional disorder or underlying disease. To rule out any blockage or other structural problems, the health care provider may perform one or more of the following tests: - Upper gastrointestinal (GI) endoscopy. This procedure involves using an endoscopea small, flexible tube with a lightto see the upper GI tract, which includes the esophagus, stomach, and duodenumthe first part of the small intestine. The test is performed at a hospital or outpatient center by a gastroenterologista doctor who specializes in digestive diseases. The endoscope is carefully fed down the esophagus and into the stomach and duodenum. A small camera mounted on the endoscope transmits a video image to a monitor, allowing close examination of the intestinal lining. A person may receive a liquid anesthetic that is gargled or sprayed on the back of the throat. An intravenous (IV) needle is placed in a vein in the arm if general anesthesia is given. The test may show blockage or large bezoarssolid collections of food, mucus, vegetable fiber, hair, or other material that cannot be digested in the stomachthat are sometimes softened, dissolved, or broken up during an upper GI endoscopy. - Upper GI series. An upper GI series may be done to look at the small intestine. The test 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. No eating or drinking is allowed for 8 hours before the procedure, if possible. If the person has diabetes, a health care provider may give different instructions about fasting before the test. During the procedure, the person will stand or sit in front of an x-ray machine and drink barium, a chalky liquid. Barium coats the small intestine, making signs of gastroparesis show up more clearly on x rays. Gastroparesis is likely if the x ray shows food in the stomach after fasting. A person may experience bloating and nausea for a short time after the test. For several days afterward, barium liquid in the GI tract causes stools to be white or light colored. A health care provider will give the person specific instructions about eating and drinking after the test. - Ultrasound. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologist; anesthesia is not needed. The images can show whether gallbladder disease and pancreatitis could be the cause of a persons digestive symptoms, rather than gastroparesis. - Gastric emptying scintigraphy. The test involves eating a bland mealsuch as eggs or an egg substitutethat contains a small amount of radioactive material. The test is performed in a radiology center or hospital by a specially trained technician and interpreted by a radiologist; anesthesia is not needed. An external camera scans the abdomen to show where the radioactive material is located. The radiologist is then able to measure the rate of gastric emptying at 1, 2, 3, and 4 hours after the meal. If more than 10 percent of the meal is still in the stomach at 4 hours, the diagnosis of gastroparesis is confirmed. - SmartPill. The SmartPill is a small electronic device in capsule form. The SmartPill test is available at specialized outpatient centers. The images are interpreted by a radiologist. The device is swallowed and moves through the entire digestive tract, sending information to a cell-phone-sized receiver worn around the persons waist or neck. The recorded information provides a detailed record of how quickly food travels through each part of the digestive tract. - Gastric emptying breath test. With this test, the person eats a special test meal that includes a natural material with a special type of carbon in it. Then, breath samples are taken over a period of several hours to measure the amount of the material in the exhaled breath. The results allow the health care provider to calculate how fast the stomach is emptying.

Question: What is (are) Sickle Cell Disease ? Answer:

Espaol The term sickle cell disease (SCD) describes a group of inherited red blood cell disorders. People with SCD have abnormal hemoglobin, called hemoglobin S or sickle hemoglobin, in their red blood cells. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body. Inherited means that the disease is passed by genes from parents to their children. SCD is not contagious. A person cannot catch it, like a cold or infection, from someone else. People who have SCD inherit two abnormal hemoglobin genes, one from each parent. In all forms of SCD, at least one of the two abnormal genes causes a persons body to make hemoglobin S. When a person has two hemoglobin S genes, Hemoglobin SS, the disease is called sickle cell anemia. This is the most common and often most severe kind of SCD. Hemoglobin SC disease and hemoglobin S thalassemia (thal-uh-SEE-me-uh) are two other common forms of SCD. Some Forms of Sickle Cell Disease Hemoglobin SS Hemoglobin SC Hemoglobin S0 thalassemia Hemoglobin S+ thalassemia Hemoglobin SD Hemoglobin SE Overview Cells in tissues need a steady supply of oxygen to work well. Normally, hemoglobin in red blood cells takes up oxygen in the lungs and carries it to all the tissues of the body. Red blood cells that contain normal hemoglobin are disc shaped (like a doughnut without a hole). This shape allows the cells to be flexible so that they can move through large and small blood vessels to deliver oxygen. Sickle hemoglobin is not like normal hemoglobin. It can form stiff rods within the red cell, changing it into a crescent, or sickle shape. Sickle-shaped cells are not flexible and can stick to vessel walls, causing a blockage that slows or stops the flow of blood. When this happens, oxygen cant reach nearby tissues. Normal Red Cells and Sickle Red Cells The lack of tissue oxygen can cause attacks of sudden, severe pain, called pain crises. These pain attacks can occur without warning, and a person often needs to go to the hospital for effective treatment. Most children with SCD are pain free between painful crises, but adolescents and adults may also suffer with chronic ongoing pain. The red cell sickling and poor oxygen delivery can also cause organ damage. Over a lifetime, SCD can harm a persons spleen, brain, eyes, lungs, liver, heart, kidneys, penis, joints, bones, or skin. Sickle cells cant change shape easily, so they tend to burst apart or hemolyze. Normal red blood cells live about 90 to 120 days, but sickle cells last only 10 to 20 days. The body is always making new red blood cells to replace the old cells; however, in SCD the body may have trouble keeping up with how fast the cells are being destroyed. Because of this, the number of red blood cells is usually lower than normal. This condition, called anemia, can make a person have less energy. Outlook Sickle cell disease is a life-long illness. The severity of the disease varies widely from person to person. In high-income countries like the United States, the life expectancy of a person with SCD is now about 4060 years. In 1973, the average lifespan of a person with SCD in the United States was only 14 years. Advances in the diagnosis and care of SCD have made this improvement possible. At the present time, hematopoietic stem cell transplantation (HSCT) is the only cure for SCD. Unfortunately, most people with SCD are either too old for a transplant or dont have a relative who is a good enough genetic match for them to act as a donor. A well-matched donor is needed to have the best chance for a successful transplant. There are effective treatments that can reduce symptoms and prolong life. Early diagnosis and regular medical care to prevent complications also contribute to improved well-being.

Question: What is (are) Pol III-related leukodystrophy ? Answer:

Pol III-related leukodystrophy is a disorder that affects the nervous system and other parts of the body. Leukodystrophies are conditions that involve abnormalities of the nervous system's white matter, which consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses. Pol III-related leukodystrophy is a hypomyelinating disease, which means that the nervous system of affected individuals has a reduced ability to form myelin. Hypomyelination underlies most of the neurological problems associated with Pol III-related leukodystrophy. A small number of people with this disorder also have a loss of nerve cells in a part of the brain involved in coordinating movements (cerebellar atrophy) and underdevelopment (hypoplasia) of tissue that connects the left and right halves of the brain (the corpus callosum). These brain abnormalities likely contribute to the neurological problems in affected individuals. People with Pol III-related leukodystrophy usually have intellectual disability ranging from mild to severe, which gradually worsens over time. Some affected individuals have normal intelligence in early childhood but develop mild intellectual disability during the course of the disease. Difficulty coordinating movements (ataxia), which begins in childhood and slowly worsens over time, is a characteristic feature of Pol III-related leukodystrophy. Affected children typically have delayed development of motor skills such as walking. Their gait is unstable, and they usually walk with their feet wide apart for balance. Affected individuals may eventually need to use a walker or wheelchair. Involuntary rhythmic shaking (tremor) of the arms and hands may occur in this disorder. In some cases the tremor occurs mainly during movement (intentional tremor); other affected individuals experience the tremor both during movement and at rest. Development of the teeth (dentition) is often abnormal in Pol III-related leukodystrophy, resulting in the absence of some teeth (known as hypodontia or oligodontia). Some affected infants are born with a few teeth (natal teeth), which fall out during the first weeks of life. The primary (deciduous) teeth appear later than usual, beginning at about age 2. In Pol III-related leukodystrophy, the teeth may not appear in the usual sequence, in which front teeth (incisors) appear before back teeth (molars). Instead, molars often appear first, with incisors appearing later or not at all. Permanent teeth are also delayed, and may not appear until adolescence. The teeth may also be unusually shaped. Some individuals with Pol III-related leukodystrophy have excessive salivation and difficulty chewing or swallowing (dysphagia), which can lead to choking. They may also have speech impairment (dysarthria). People with Pol III-related leukodystrophy often have abnormalities in eye movement, such as progressive vertical gaze palsy, which is restricted up-and-down eye movement that worsens over time. Nearsightedness is common in affected individuals, and clouding of the lens of the eyes (cataracts) has also been reported. Deterioration (atrophy) of the nerves that carry information from the eyes to the brain (the optic nerves) and seizures may also occur in this disorder. Hypogonadotropic hypogonadism, which is a condition caused by reduced production of hormones that direct sexual development, may occur in Pol III-related leukodystrophy. Affected individuals have delayed development of the typical signs of puberty, such as the growth of body hair. People with Pol III-related leukodystrophy may have different combinations of its signs and symptoms. These varied combinations of clinical features were originally described as separate disorders. Affected individuals may be diagnosed with ataxia, delayed dentition, and hypomyelination (ADDH); hypomyelination, hypodontia, hypogonadotropic hypogonadism (4H syndrome); tremor-ataxia with central hypomyelination (TACH); leukodystrophy with oligodontia (LO); or hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC). Because these disorders were later found to have the same genetic cause, researchers now group them as variations of the single condition Pol III-related leukodystrophy.

Question: What are the symptoms of Ichthyosis follicularis atrichia photophobia syndrome ? Answer:

What are the signs and symptoms of Ichthyosis follicularis atrichia photophobia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis follicularis atrichia photophobia 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) Alopecia 90% Cognitive impairment 90% Cryptorchidism 90% Dry skin 90% Hydrocephalus 90% Ichthyosis 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Optic atrophy 90% Photophobia 90% Renal hypoplasia/aplasia 90% Seizures 90% Abnormality of the fingernails 50% Aganglionic megacolon 50% Aplasia/Hypoplasia affecting the eye 50% Cleft palate 50% Convex nasal ridge 50% Developmental regression 50% Eczema 50% Hearing impairment 50% Hypohidrosis 50% Intrauterine growth retardation 50% Iris coloboma 50% Multicystic kidney dysplasia 50% Plagiocephaly 50% Postaxial hand polydactyly 50% Recurrent respiratory infections 50% Scoliosis 50% Vertebral segmentation defect 50% Vesicoureteral reflux 50% Abnormality of dental enamel 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Astigmatism 7.5% Camptodactyly of finger 7.5% Cataract 7.5% Cerebral cortical atrophy 7.5% Cheilitis 7.5% Choanal atresia 7.5% Delayed skeletal maturation 7.5% Frontal bossing 7.5% Inflammatory abnormality of the eye 7.5% Kyphosis 7.5% Macrotia 7.5% Muscular hypotonia 7.5% Myopia 7.5% Nystagmus 7.5% Omphalocele 7.5% Opacification of the corneal stroma 7.5% Platyspondyly 7.5% Short stature 7.5% Split hand 7.5% Urticaria 7.5% Hip dislocation 5% Abnormality of the ribs - Abnormality of the vertebrae - Absent eyebrow - Absent eyelashes - Brain atrophy - Congenital onset - Ectodermal dysplasia - Erythroderma - Follicular hyperkeratosis - Hypoplasia of the corpus callosum - Inguinal hernia - Intellectual disability - Nail dysplasia - Nail dystrophy - Oligohydramnios - Olivopontocerebellar atrophy - Recurrent corneal erosions - Renal dysplasia - Scaling skin - Umbilical hernia - Unilateral chest hypoplasia - Unilateral renal agenesis - Variable expressivity - Ventriculomegaly - 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 symptoms of Sjogren syndrome ? Answer:

What are the signs and symptoms of Sjogren syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sjogren 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) Arthralgia 90% Arthritis 90% Autoimmunity 90% Dry skin 90% Increased antibody level in blood 90% Keratoconjunctivitis sicca 90% Xerostomia 90% Abnormality of temperature regulation 50% Abnormality of the gastric mucosa 50% Abnormality of the pharynx 50% Acrocyanosis 50% Carious teeth 50% Corneal erosion 50% Diplopia 50% Feeding difficulties in infancy 50% Furrowed tongue 50% Myalgia 50% Opacification of the corneal stroma 50% Paresthesia 50% Pulmonary fibrosis 50% Pulmonary infiltrates 50% Recurrent respiratory infections 50% Sinusitis 50% Sleep disturbance 50% Visual impairment 50% Abnormal tendon morphology 7.5% Abnormality of the pleura 7.5% Abnormality of the renal tubule 7.5% Abnormality of the sense of smell 7.5% Alopecia 7.5% Arrhythmia 7.5% Asthma 7.5% Atelectasis 7.5% Cerebral ischemia 7.5% Chronic obstructive pulmonary disease 7.5% Conductive hearing impairment 7.5% Cryoglobulinemia 7.5% Cutis marmorata 7.5% Diabetes insipidus 7.5% Epistaxis 7.5% Facial palsy 7.5% Glomerulopathy 7.5% Hemiplegia/hemiparesis 7.5% Hepatomegaly 7.5% Hypercalciuria 7.5% Hypokalemia 7.5% Leukopenia 7.5% Lymphoma 7.5% Malabsorption 7.5% Meningitis 7.5% Microcytic anemia 7.5% Myositis 7.5% Nephrolithiasis 7.5% Nephrotic syndrome 7.5% Neurological speech impairment 7.5% Ophthalmoparesis 7.5% Otitis media 7.5% Pancreatitis 7.5% Photophobia 7.5% Proteinuria 7.5% Ptosis 7.5% Pulmonary hypertension 7.5% Reduced bone mineral density 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Salivary gland neoplasm 7.5% Seizures 7.5% Splenomegaly 7.5% Subcutaneous hemorrhage 7.5% Thrombocytopenia 7.5% Thyroiditis 7.5% Urticaria 7.5% Vasculitis 7.5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Rheumatoid arthritis - 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 Prostate Cancer ? Answer:

Choosing Treatment There are a number of ways to treat prostate cancer, and the doctor will develop a treatment to fit each man's needs. The choice of treatment mostly depends on the stage of the disease and the grade of the tumor. But doctors also consider a man's age, general health, and his feelings about the treatments and their possible side effects. Treatment for prostate cancer may involve watchful waiting, surgery, radiation therapy, or hormonal therapy. Some men receive a combination of therapies. A cure is the goal for men whose prostate cancer is diagnosed early. Weighing Treatment Options You and your doctor will want to consider both the benefits and possible side effects of each option, especially the effects on sexual activity and urination, and other concerns about quality of life. Surgery, radiation therapy, and hormonal therapy all have the potential to disrupt sexual desire or performance for a short while or permanently. Discuss your concerns with your health care provider. Several options are available to help you manage sexual problems related to prostate cancer treatment. Watchful Waiting The doctor may suggest watchful waiting for some men who have prostate cancer that is found at an early stage and appears to be growing slowly. Also, watchful waiting may be advised for older men or men with other serious medical problems. For these men, the risks and possible side effects of surgery, radiation therapy, or hormonal therapy may outweigh the possible benefits. Doctors monitor these patients with regular check-ups. If symptoms appear or get worse, the doctor may recommend active treatment. Surgery Surgery is used to remove the cancer. It is a common treatment for early stage prostate cancer. The surgeon may remove the entire prostate with a type of surgery called radical prostatectomy or, in some cases, remove only part of it. Sometimes the surgeon will also remove nearby lymph nodes. Side effects of the operation may include lack of sexual function or impotence, or problems holding urine or incontinence. Improvements in surgery now make it possible for some men to keep their sexual function. In some cases, doctors can use a technique known as nerve-sparing surgery. This may save the nerves that control erection. However, men with large tumors or tumors that are very close to the nerves may not be able to have this surgery. Some men with trouble holding urine may regain control within several weeks of surgery. Others continue to have problems that require them to wear a pad. Radiation Therapy Radiation therapy uses high-energy x-rays to kill cancer cells and shrink tumors. Doctors may recommend it instead of surgery, or after surgery, to destroy any cancer cells that may remain in the area. In advanced stages, the doctor may recommend radiation to relieve pain or other symptoms. It may also be used in combination with hormonal therapy. Radiation can cause problems with impotence and bowel function. The radiation may come from a machine, which is external radiation, or from tiny radioactive seeds placed inside or near the tumor, which is internal radiation. Men who receive only the radioactive seeds usually have small tumors. Some men receive both kinds of radiation therapy. For external radiation therapy, patients go to the hospital or clinic -- usually for several weeks. Internal radiation may require patients to stay in the hospital for a short time. Hormonal Therapy Hormonal therapy deprives cancer cells of the male hormones they need to grow and survive. This treatment is often used for prostate cancer that has spread to other parts of the body. Sometimes doctors use hormonal therapy to try to keep the cancer from coming back after surgery or radiation treatment. Side effects can include impotence, hot flashes, loss of sexual desire, and thinning of bones. Some hormone therapies increase the risk of blood clots. Monitoring Treatment Regardless of the type of treatment you receive, you will be closely monitored to see how well the treatment is working. Monitoring may include - a PSA blood test -- usually every 3 months to 1 year. - bone scan and/or CT scan to see if the cancer has spread. - a complete blood count to monitor for signs and symptoms of anemia. - looking for signs or symptoms that the disease might be progressing, such as fatigue, increased pain, or decreased bowel and bladder function. a PSA blood test -- usually every 3 months to 1 year. bone scan and/or CT scan to see if the cancer has spread. a complete blood count to monitor for signs and symptoms of anemia. looking for signs or symptoms that the disease might be progressing, such as fatigue, increased pain, or decreased bowel and bladder function.

Question: What is (are) Problems with Taste ? Answer:

Taste, or gustation, is one of our most robust senses. Although there is a small decline in taste in people over 60, most older people will not notice it because normal aging does not greatly affect our sense of taste. Problems with taste occur less frequently than problems with smell. How Our Sense of Taste Works Our sense of taste, along with our sense of smell, is part of our chemical sensing system. Normal taste occurs when tiny molecules released by chewing or the digestion of food stimulate special sensory cells in the mouth and throat. These taste cells, or gustatory cells, send messages through three specialized taste nerves to the brain, where specific tastes are identified. Damage to these nerves following head injury can lead to taste loss. The taste cells are clustered within the taste buds of the tongue and roof of the mouth, and along the lining of the throat. Many of the small bumps that can be seen on the tip of the tongue contain taste buds. At birth, we have about 10,000 taste buds scattered on the back, sides, and tip of the tongue. After age 50, we may start to lose taste buds. Five Taste Sensations We can experience five basic taste sensations: sweet, sour, bitter, salty, and umami, or savory. Umami is the taste we get from glutamate, a building block of protein found in chicken broth, meat stock, and some cheeses. Umami is also the taste associated wtih MSG (monosodium glutamate) that is often added to foods as a flavor enhancer. The five taste qualities combine with other oral sensations, such as texture, spiciness, temperature, and aroma to produce what is commonly referred to as flavor. It is flavor that lets us know whether we are eating an apple or a pear. Flavors and the Sense of Smell Many people are surprised to learn that we recognize flavors largely through our sense of smell. Try holding your nose while eating chocolate. You will be able to distinguish between its sweetness and bitterness, but you can't identify the chocolate flavor. That's because the distinguishing characteristic of chocolate is largely identified by our sense of smell as aromas are released during chewing. Food flavor is affected by a head cold or nasal congestion because the aroma of food does not reach the sensory cells that detect odors. More information on this topic can be found in the topic Problems With Smell Smell and Taste Closely Linked Smell and taste are closely linked senses. Many people mistakenly believe they have a problem with taste, when they are really experiencing a problem with smell. It is common for people who lose their sense of smell to say that food has lost its taste. This is incorrect; the food has lost its aroma, but taste remains. In older people, there is a normal decline in the sense of smell and the taste of food shifts toward blandness. This is why people often believe they have a taste problem. When Taste is Impaired Problems with taste can have a big impact on an older person's life. Because taste affects the amount and type of food we eat, when there are problems with taste, a person may change his or her eating habits. Some people may eat too much and gain weight, while others may eat too little and lose weight. A loss of appetite, especially in older adults, can lead to loss of weight, poor nutrition, weakened immunity, and even death. Taste helps us detect spoiled food or liquids and it also helps some people detect ingredients they are allergic to. A problem with taste can weaken or remove an early warning system that most of us take for granted. A distorted sense of taste can be a serious risk factor for illnesses that require sticking to a specific diet. Loss of taste can cause us to eat too much sugar or salt to make our food taste better. This can be a problem for people with such illnesses as diabetes or high blood pressure. In severe cases, loss of taste can lead to depression. Taste Problems Are Often Temporary When an older person has a problem with taste, it is often temporary and minor. True taste disorders are uncommon. When a problem with taste exists, it is usually caused by medications, disease, some cancer treatments, or injury. Many older people believe that there is nothing they can do about their weakened sense of taste. If you think you have a problem with your sense of taste, see your doctor. Depending on the cause of your problem, your doctor may be able to suggest ways to regain your sense of taste or to cope with the loss of taste.

Question: What are the symptoms of Problems with Taste ? Answer:

Symptoms Vary With Disorders There are several types of taste disorders depending on how the sense of taste is affected. People who have taste disorders usually lose their ability to taste or can no longer perceive taste in the same way. True taste disorders are rare. Most changes in the perception of food flavor result from the loss of smell. Phantom Taste Perception. The most common taste complaint is "phantom taste perception" -- tasting something when nothing is in the mouth. Hypogeusia. Some people have hypogeusia, or the reduced ability to taste sweet, sour, bitter, salty, and savory, or umami. This disorder is usually temporary. Dysgeusia. Dysgeusia is a condition in which a foul, salty, rancid, or metallic taste sensation will persist in the mouth. Dysgeusia is sometimes accompanied by burning mouth syndrome, a condition in which a person experiences a painful burning sensation in the mouth. Although it can affect anyone, burning mouth syndrome is most common in middle-aged and older women. Ageusia. Other people can't detect taste at all, which is called ageusia. This type of taste disorder can be caused by head trauma; some surgical procedures, such as middle ear surgery or extraction of the third molar; radiation therapy; and viral infections. Why a Diagnosis Is Important If you think you have a taste disorder, see your doctor. Loss of the sense of taste can lead to depression and a reduced desire to eat. Loss of appetite can lead to loss of weight, poor nutrition and weakened immunity. In some cases, loss of taste can accompany or signal conditions such as diabetes. Sometimes, a problem with taste can be a sign of a disease of the nervous system, such multiple sclerosis, Alzheimer's disease, or Parkinsons disease. Do You Have a Taste Disorder? If you think you have a taste disorder, try to identify and record the circumstances surrounding it. Ask yourself the following questions: - When did I first become aware of it? - What changes in my taste do I notice? - Do all foods and drinks taste the same? - Have there been any changes in my sense of smell? - Does the change in taste affect my ability to eat normally? - What medications do I take? What are the names of the medications? How much do I take? What is the health condition for which I take them? - Have I recently had a cold or the flu? When did I first become aware of it? What changes in my taste do I notice? Do all foods and drinks taste the same? Have there been any changes in my sense of smell? Does the change in taste affect my ability to eat normally? What medications do I take? What are the names of the medications? How much do I take? What is the health condition for which I take them? Have I recently had a cold or the flu? Talking With Your Doctor Bring this information with you when you visit the doctor. He or she may refer you to an otolaryngologist, a specialist in diseases of the ear, nose, and throat. An accurate assessment of your taste loss will include, among other things - a physical examination of your ears, nose, and throat - a dental examination and assessment of oral hygiene - a review of your health history - a taste test supervised by a health care professional. a physical examination of your ears, nose, and throat a dental examination and assessment of oral hygiene a review of your health history a taste test supervised by a health care professional. Tests for Taste Disorders Some tests are designed to measure the lowest concentration of a substance that a person can detect or recognize. Your doctor may ask you to compare the tastes of different substances or to note how the intensity of a taste grows when a substance's concentration is increased. Scientists have developed taste tests in which the patient responds to different concentrations of a substance. This may involve a simple "sip, spit, and rinse" test or the application of a substance directly to your tongue using an eye dropper. By using these tests, your doctor can determine if you have a true taste disorder and what type it is. If your doctor suspects that nerves in your mouth or head may be affected, he or she may order an X-ray, usually a CAT scan, to look further into the head and neck area. Once the cause of a taste disorder is found, your doctor may be able to treat it. Many types of taste disorders are reversible, but if not, counseling and self-help techniques may help you cope.

Question: What are the symptoms of Multiple endocrine neoplasia type 1 ? Answer:

What are the signs and symptoms of Multiple endocrine neoplasia type 1? Multiple endocrine neoplasia, type 1 (MEN1) is characterized primarily by several different types of endocrine tumors. People affected by MEN1 typically develop tumors of the parathyroid gland, the pituitary gland, and the pancreas, although other glands may be involved as well. These tumors are often "functional" and secrete excess hormones, which causes many of the different signs and symptoms of the condition. A variety of non-endocrine tumors are also found in MEN1, including lipomas (fatty tumors); and tumors of the skin or the central nervous system (brain and spinal cord). Signs and symptoms of MEN1 vary and largely depend on which endocrine glands are affected: Parathyroid tumors are present in 90% of people with MEN1 by age 20-25 years and may cause fatigue, depression, weight loss, constipation, nausea, vomiting, dehydration, kidney stones, fragile bones, and hypertension. Pituitary tumors can lead to headaches, vision problems, nausea and vomiting. In women, menstrual periods may become irregular or stop completely. Men may have decreased fertility, diminished sexual desire, and/or erectile dysfunction. Stomach, bowel or pancreas (also called the gastro-entero-pancreatic, or GEP tract) tumors can cause high blood sugar, weight loss, glossitis, anemia, diarrhea, blood clots, and skin rash. Adrenal tumors can cause a variety of symptoms depending on the type of hormones they secrete, including high blood pressure, irregular heartbeat, panic attacks, headaches, diabetes, abdominal pain, weakness, excessive hair growth, and stretch marks. Carcinoid tumors (slow-growing tumors that usually begin in the lining of the lungs or the digestive tract can cause flushing of the face and upper chest; diarrhea; and trouble breathing. The tumors that develop in MEN1 are often benign; however, in some cases, they can become malignant (cancerous). Gastrinomas (a specific type of GEP tract tumor) and carcinoid tumors are the most likely to advance to cancer. The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple endocrine neoplasia 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) Exocrine pancreatic insufficiency 90% Hypercalcemia 90% Hyperparathyroidism 90% Abnormality of the gastric mucosa 50% Abnormality of the thyroid gland 50% Hypercortisolism 50% Multiple lipomas 50% Adenoma sebaceum - Adrenocortical adenoma - Autosomal dominant inheritance - Cafe-au-lait spot - Carcinoid tumor - Confetti-like hypopigmented macules - Diarrhea - Esophagitis - Glucagonoma - Growth hormone excess - Hypoglycemia - Insulinoma - Parathyroid adenoma - Peptic ulcer - Pituitary adenoma - Pituitary prolactin cell adenoma - Subcutaneous lipoma - Zollinger-Ellison syndrome - 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 Hyperthyroidism ? Answer:

Hyperthyroidism has several causes, including - Graves disease - thyroid nodules - thyroiditis, or inflammation of the thyroid - consuming too much iodine - overmedicating with synthetic thyroid hormone, which is used to treat underactive thyroid Rarely, hyperthyroidism is caused by a pituitary adenoma, which is a noncancerous tumor of the pituitary gland. In this case, hyperthyroidism is due to too much TSH. Graves Disease Graves disease, also known as toxic diffuse goiter, is the most common cause of hyperthyroidism in the United States. Graves disease is an autoimmune disorder. Normally, the immune system protects the body from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. But in autoimmune diseases, the immune system attacks the bodys own cells and organs. With Graves disease, the immune system makes an antibody called thyroid stimulating immunoglobulin (TSI) that attaches to thyroid cells. TSI mimics the action of TSH and stimulates the thyroid to make too much thyroid hormone. More information is provided in the NIDDK health topic, Graves' disease. Thyroid Nodules Thyroid nodules, also called adenomas, are lumps in the thyroid. Thyroid nodules are common and usually noncancerous. About 3 to 7 percent of the U.S. population has them.2 However, nodules may become overactive and produce too much hormone. A single overactive nodule is called a toxic adenoma. Multiple overactive nodules are called toxic multinodular goiter. Often found in older adults, toxic multinodular goiter can produce a large amount of excess thyroid hormone. Thyroiditis Thyroiditis is an inflammation of the thyroid that causes stored thyroid hormone to leak out of the thyroid gland. At first, the leakage raises hormone levels in the blood, leading to hyperthyroidism that lasts for 1 or 2 months. Most people then develop hypothyroidismwhen thyroid hormone levels are too lowbefore the thyroid is completely healed. Several types of thyroiditis can cause hyperthyroidism followed by hypothyroidism: - Subacute thyroiditis. This condition involves painful inflammation and enlargement of the thyroid. Experts are not sure what causes subacute thyroiditis, but it may be related to a viral or bacterial infection. The condition usually goes away on its own in a few months. - Postpartum thyroiditis. This type of thyroiditis develops after a woman gives birth. For more information, see the section titled What happens with pregnancy and thyroid conditions? - Silent thyroiditis. This type of thyroiditis is called silent because it is painless, as is postpartum thyroiditis, even though the thyroid may be enlarged. Like postpartum thyroiditis, silent thyroiditis is probably an autoimmune condition and sometimes develops into permanent hypothyroidism. Consuming Too Much Iodine The thyroid uses iodine to make thyroid hormone, so the amount of iodine consumed influences the amount of thyroid hormone the thyroid makes. In some people, consuming large amounts of iodine may cause the thyroid to make excess thyroid hormone. Sometimes significant amounts of iodine are contained in medicationssuch as amiodarone, which is used to treat heart problemsor in supplements containing seaweed. Some cough syrups also contain large amounts of iodine. See Eating, Diet, and Nutrition for more information on iodine. Overmedicating with Synthetic Thyroid Hormone Some people who take synthetic thyroid hormone for hypothyroidism may take too much. People who take synthetic thyroid hormone should see their health care provider at least once a year to have their thyroid hormone levels checked and follow the health care providers instructions about the dosage. Some other medications may also interact with synthetic thyroid hormone to raise hormone levels in the blood. People who take synthetic thyroid hormone should ask their health care provider about interactions when starting new medications.

Question: What are the treatments for Aneurysm ? Answer:

Aortic aneurysms are treated with medicines and surgery. Small aneurysms that are found early and arent causing symptoms may not need treatment. Other aneurysms need to be treated. The goals of treatment may include: Preventing the aneurysm from growing Preventing or reversing damage to other body structures Preventing or treating a rupture or dissection Allowing you to continue doing your normal daily activities Treatment for an aortic aneurysm is based on its size. Your doctor may recommend routine testing to make sure an aneurysm isn't getting bigger. This method usually is used for aneurysms that are smaller than 5 centimeters (about 2 inches) across. How often you need testing (for example, every few months or every year) is based on the size of the aneurysm and how fast it's growing. The larger it is and the faster it's growing, the more often you may need to be checked. Medicines If you have an aortic aneurysm, your doctor may prescribe medicines before surgery or instead of surgery. Medicines are used to lower blood pressure, relax blood vessels, and lower the risk that the aneurysm will rupture (burst). Beta blockers and calcium channel blockers are the medicines most commonly used. Surgery Your doctor may recommend surgery if your aneurysm is growing quickly or is at risk of rupture or dissection. The two main types of surgery to repair aortic aneurysms are open abdominal or open chest repair and endovascular repair. Open Abdominal or Open Chest Repair The standard and most common type of surgery for aortic aneurysms is open abdominal or open chest repair. This surgery involves a major incision (cut) in the abdomen or chest. General anesthesia (AN-es-THE-ze-ah) is used during this procedure. The term anesthesia refers to a loss of feeling and awareness. General anesthesia temporarily puts you to sleep. During the surgery, the aneurysm is removed. Then, the section of aorta is replaced with a graft made of material such as Dacron or Teflon. The surgery takes 3 to 6 hours; youll remain in the hospital for 5 to 8 days. If needed, repair of the aortic heart valve also may be done during open abdominal or open chest surgery. It often takes a month to recover from open abdominal or open chest surgery and return to full activity. Most patients make a full recovery. Endovascular Repair In endovascular repair, the aneurysm isn't removed. Instead, a graft is inserted into the aorta to strengthen it. Surgeons do this type of surgery using catheters (tubes) inserted into the arteries; it doesn't require surgically opening the chest or abdomen. General anesthesia is used during this procedure. The surgeon first inserts a catheter into an artery in the groin (upper thigh) and threads it to the aneurysm. Then, using an x ray to see the artery, the surgeon threads the graft (also called a stent graft) into the aorta to the aneurysm. The graft is then expanded inside the aorta and fastened in place to form a stable channel for blood flow. The graft reinforces the weakened section of the aorta. This helps prevent the aneurysm from rupturing. Endovascular Repair The illustration shows the placement of a stent graft in an aortic aneurysm. In figure A, a catheter is inserted into an artery in the groin (upper thigh). The catheter is threaded to the abdominal aorta, and the stent graft is released from the catheter. In figure B, the stent graft allows blood to flow through the aneurysm. The recovery time for endovascular repair is less than the recovery time for open abdominal or open chest repair. However, doctors cant repair all aortic aneurysms with endovascular repair. The location or size of an aneurysm may prevent the use of a stent graft.

Question: What are the genetic changes related to ovarian cancer ? Answer:

Cancers occur when a buildup of mutations in critical genesthose that control cell growth and division or repair damaged DNAallow cells to grow and divide uncontrollably to form a tumor. Most cases of ovarian cancer are sporadic; in these cases the associated genetic changes are acquired during a person's lifetime and are present only in certain cells in the ovary. These changes, which are called somatic mutations, are not inherited. Somatic mutations in the TP53 gene occur in almost half of all ovarian cancers. The protein produced from this gene is described as a tumor suppressor because it helps keep cells from growing and dividing too fast or in an uncontrolled way. Most of these mutations change single protein building blocks (amino acids) in the p53 protein, which reduces or eliminates the protein's tumor suppressor function. Because the altered protein is less able to regulate cell growth and division, a cancerous tumor may develop. Somatic mutations in many other genes have also been found in ovarian cancer cells. In hereditary ovarian cancer, the associated genetic changes are passed down within a family. These changes, classified as germline mutations, are present in all the body's cells. In people with germline mutations, other inherited and somatic gene changes, together with environmental and lifestyle factors, also influence whether a woman will develop ovarian cancer. Germline mutations are involved in more than one-fifth of ovarian cancer cases. Between 65 and 85 percent of these mutations are in the BRCA1 or BRCA2 gene. These gene mutations are described as "high penetrance" because they are associated with a high risk of developing ovarian cancer, breast cancer, and several other types of cancer in women. Compared to a 1.6 percent lifetime risk of developing ovarian cancer for women in the total population, the lifetime risk in women with a BRCA1 gene mutation is 40 to 60 percent, and the lifetime risk in women with a BRCA2 gene mutation is 20 to 35 percent. Men with mutations in these genes also have an increased risk of developing several forms of cancer. The proteins produced from the BRCA1 and BRCA2 genes are tumor suppressors that are involved in fixing damaged DNA, which helps to maintain the stability of a cell's genetic information. Mutations in these genes impair DNA repair, allowing potentially damaging mutations to persist in DNA. As these defects accumulate, they can trigger cells to grow and divide without control or order to form a tumor. A significantly increased risk of ovarian cancer is also a feature of certain rare genetic syndromes, including a disorder called Lynch syndrome. Lynch syndrome is most often associated with mutations in the MLH1 or MSH2 gene and accounts for between 10 and 15 percent of hereditary ovarian cancers. Other rare genetic syndromes may also be associated with an increased risk of ovarian cancer. The proteins produced from the genes associated with these syndromes act as tumor suppressors. Mutations in any of these genes can allow cells to grow and divide unchecked, leading to the development of a cancerous tumor. Like BRCA1 and BRCA2, these genes are considered "high penetrance" because mutations greatly increase a person's chance of developing cancer. In addition to ovarian cancer, mutations in these genes increase the risk of several other types of cancer in both men and women. Germline mutations in dozens of other genes have been studied as possible risk factors for ovarian cancer. These genes are described as "low penetrance" or "moderate penetrance" because changes in each of these genes appear to make only a small or moderate contribution to overall ovarian cancer risk. Some of these genes provide instructions for making proteins that interact with the proteins produced from the BRCA1 or BRCA2 genes. Others act through different pathways. Researchers suspect that the combined influence of variations in these genes may significantly impact a person's risk of developing ovarian cancer. In many families, the genetic changes associated with hereditary ovarian cancer are unknown. Identifying additional genetic risk factors for ovarian cancer is an active area of medical research. In addition to genetic changes, researchers have identified many personal and environmental factors that contribute to a woman's risk of developing ovarian cancer. These factors include age, ethnic background, and hormonal and reproductive factors. A history of ovarian cancer in closely related family members is also an important risk factor, particularly if the cancer occurred in early adulthood.

Question: What are the symptoms of Fine-Lubinsky syndrome ? Answer:

What are the signs and symptoms of Fine-Lubinsky syndrome? The signs and symptoms known to occur in people with Fine-Lubinsky syndrome (FLS) are based on reports of the few people who have been diagnosed and described in the medical literature. Numerous features have been reported and many of them vary among affected people. The key signs for diagnosis may include: non-synostotic brachycephaly or plagiocephaly (a deformity of the skull that is not due to bone fusion) structural brain anomalies abnormal electroencephalogram (EEG) intellectual disability deafness ocular (eye) abnormalities (cataracts or glaucoma) distinctive facial features (including a high/wide forehead; shallow eye orbits; a flat/round face; low-set, posteriorly-rotated ears; and an abnormally small mouth) body asymmetry, which may be present at birth (congenital) The Human Phenotype Ontology provides the following list of signs and symptoms for Fine-Lubinsky syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Abnormality of the fontanelles or cranial sutures 90% Camptodactyly of finger 90% Cognitive impairment 90% Malar flattening 90% Muscular hypotonia 90% Plagiocephaly 90% Rocker bottom foot 90% Scoliosis 90% Sensorineural hearing impairment 90% Short stature 90% Tapered finger 90% Abnormality of the fingernails 50% Aplasia/Hypoplasia of the corpus callosum 50% Asymmetry of the thorax 50% Atresia of the external auditory canal 50% Brachydactyly syndrome 50% Broad forehead 50% Cataract 50% Cerebral cortical atrophy 50% Cleft palate 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% Depressed nasal bridge 50% Facial asymmetry 50% Glaucoma 50% High forehead 50% Hypertelorism 50% Intrauterine growth retardation 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Narrow mouth 50% Pectus excavatum 50% Seizures 50% Short nose 50% Short toe 50% Thin vermilion border 50% Ventriculomegaly 50% Finger syndactyly 7.5% Visual impairment 7.5% Hypoplasia of the corpus callosum 5% Long eyelashes 5% Megalocornea 5% Microtia 5% Shawl scrotum 5% Absent axillary hair - Brachycephaly - Breast hypoplasia - Camptodactyly - Cerebral atrophy - Flat face - Growth delay - Hearing impairment - Intellectual disability - Low-set ears - Pectus excavatum of inferior sternum - Posteriorly rotated ears - Scrotal hypoplasia - Shallow orbits - Sporadic - Superior pectus carinatum - 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 Marshall-Smith syndrome ? Answer:

What are the signs and symptoms of Marshall-Smith syndrome? Marshall-Smith syndrome is characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including wide and prominent forehead, protruding and widely spaced eyes, blue sclerae (the white part of the eye), depressed nasal bridge, a small, upturned nose, and micrognathia. There are often problems with structures in the respiratory tract (such as the larynx and trachea) and this can lead to difficulty with breathing and frequent infections. Pneumonia is common. Severe feeding difficulties may also result. X-rays show advanced bone age and short and conical phalanges (finger and/or toes bones). The Human Phenotype Ontology provides the following list of signs and symptoms for Marshall-Smith 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) Accelerated skeletal maturation 90% Anteverted nares 90% Bowing of the long bones 90% Cognitive impairment 90% Depressed nasal bridge 90% Frontal bossing 90% Hyperextensible skin 90% Joint hypermobility 90% Proptosis 90% Respiratory insufficiency 90% Skeletal dysplasia 90% Slender long bone 90% Thin skin 90% Abnormality of the tongue 50% Blue sclerae 50% Bruising susceptibility 50% Conductive hearing impairment 50% Hypertelorism 50% Hypertrichosis 50% Laryngomalacia 50% Open mouth 50% Recurrent fractures 50% Reduced bone mineral density 50% Scoliosis 50% Short nose 50% Aplasia/Hypoplasia of the cerebellum 7.5% Choanal atresia 7.5% Craniosynostosis 7.5% Gingival overgrowth 7.5% Optic atrophy 7.5% Ventriculomegaly 7.5% Agenesis of corpus callosum - Atlantoaxial dislocation - Atria septal defect - Autosomal dominant inheritance - Bullet-shaped middle phalanges of the hand - Cerebral atrophy - Choanal stenosis - Death in childhood - Decreased body weight - Distal widening of metacarpals - Failure to thrive - Glossoptosis - Hearing impairment - Hypoplasia of midface - Hypoplasia of the odontoid process - Intellectual disability - Irregular dentition - Large sternal ossification centers - Low-set ears - Macrogyria - Malar flattening - Motor delay - Muscular hypotonia - Obstructive sleep apnea - Omphalocele - Overfolded helix - Patent ductus arteriosus - Pectus excavatum - Prominence of the premaxilla - Prominent forehead - Pulmonary hypertension - Recurrent aspiration pneumonia - Retrognathia - Shallow orbits - Short distal phalanx of finger - Short mandibular rami - Short philtrum - Short sternum - Sporadic - Synophrys - Tall stature - Thick eyebrow - Umbilical hernia - 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 Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies ? Answer:

Tests that examine the blood and bone marrow are used to detect (find) and diagnose childhood AML, childhood CML, JMML, and MDS. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Complete blood count (CBC) 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. - Peripheral blood smear : A procedure in which a sample of blood is checked for blast cells, the number and kinds of white blood cells, number of platelets, and changes in the shape of the 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. - 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. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. Biopsies that may be done include the following: - 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. - Tumor biopsy: A biopsy of a chloroma may be done. - Lymph node biopsy: The removal of all or part of a lymph node. - Cytogenetic analysis : A laboratory test in which cells in a sample of blood or bone marrow are viewed under a microscope to look for certain changes in the chromosomes. Changes in the chromosomes may include when part of one chromosome is switched with part of another chromosome, part of one chromosome is missing or repeated, or part of one chromosome is turned upside down. The following test is a type of cytogenetic analysis: - FISH (fluorescence in situ hybridization): A laboratory technique 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 bind to specific genes or areas of chromosomes on the slide, they light up when viewed under a microscope with a special light. - Reverse transcriptionpolymerase chain reaction (RTPCR) test: A laboratory test in which cells in a sample of tissue are studied using chemicals to look for certain changes in the structure or function of genes. - Immunophenotyping : A process used to identify cells, based on the types of antigens or markers on the surface of the cell, that may include special staining of the blood and bone marrow cells. This process is used to diagnose the subtype of AML by comparing the cancer cells to normal cells of the immune system. - Molecular testing : A laboratory test to check for certain genes, proteins, or other molecules in a sample of blood or bone marrow. Molecular tests also check for certain changes in a gene or chromosome that may cause or affect the chance of developing AML. A molecular test may be used to help plan treatment, find out how well treatment is working, or make a prognosis. - Lumbar puncture : A procedure used to collect a sample of cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of the fluid. The sample of CSF is checked under a microscope for signs that leukemia cells have spread to the brain and spinal cord. This procedure is also called an LP or spinal tap.

Question: How to diagnose Primary CNS Lymphoma ? Answer:

Tests that examine the eyes, brain, and spinal cord are used to detect (find) and diagnose primary CNS 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. - 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, 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. - Slit-lamp eye exam : An exam that uses a special microscope with a bright, narrow slit of light to check the outside and inside of the eye. - 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 brain and spinal cord. A substance called gadolinium is injected into the patient through a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). - 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. - Lumbar puncture : A procedure used to collect cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of the fluid. The sample of CSF is checked under a microscope for signs of tumor cells. The sample may also be checked for the amounts of protein and glucose. A higher than normal amount of protein or lower than normal amount of glucose may be a sign of a tumor. This procedure is also called an LP or spinal tap. - Stereotactic biopsy : A biopsy procedure that uses a computer and a 3-dimensional (3-D) scanning device to find a tumor site and guide the removal of tissue so it can be viewed under a microscope to check for signs of cancer. The following tests may be done on the samples of tissue that are removed: - 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. - 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. Other tests, such as fluorescence in situ hybridization (FISH), may also be done to look for certain changes in the chromosomes. - 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 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.

Question: What are the symptoms of Dennis Fairhurst Moore syndrome ? Answer:

What are the signs and symptoms of Dennis Fairhurst Moore syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Dennis Fairhurst Moore syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the clavicle 90% Abnormality of the ribs 90% Alopecia 90% Aplasia/Hypoplasia affecting the eye 90% Aplasia/Hypoplasia of the skin 90% Cataract 90% Convex nasal ridge 90% Frontal bossing 90% Reduced bone mineral density 90% Short stature 90% Abnormality of hair texture 50% Abnormality of the fontanelles or cranial sutures 50% Abnormality of the nares 50% Abnormality of the palate 50% Advanced eruption of teeth 50% Glossoptosis 50% Hypoplasia of the zygomatic bone 50% Increased number of teeth 50% Narrow mouth 50% Recurrent fractures 50% Telecanthus 50% Visual impairment 50% Intellectual disability 15% Abdominal situs inversus 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Choanal atresia 7.5% Clinodactyly of the 5th finger 7.5% Cognitive impairment 7.5% Congestive heart failure 7.5% Cryptorchidism 7.5% Glaucoma 7.5% Hypothyroidism 7.5% Inflammatory abnormality of the eye 7.5% Microcephaly 7.5% Myopia 7.5% Nystagmus 7.5% Respiratory insufficiency 7.5% Short foot 7.5% Short palm 7.5% Strabismus 7.5% Tracheomalacia 7.5% Abnormality of the hand - Abnormality of the nasopharynx - Blue sclerae - Brachycephaly - Choreoathetosis - Chorioretinal coloboma - Decreased number of sternal ossification centers - Dental malocclusion - Dermal atrophy - Dolichocephaly - Dry skin - Fine hair - Generalized tonic-clonic seizures - High palate - Hyperactivity - Hyperlordosis - Hypotrichosis of the scalp - Iris coloboma - Joint hypermobility - Low-set ears - Malar flattening - Metaphyseal widening - Microphthalmia - Narrow nose - Narrow palate - Natal tooth - Obstructive sleep apnea - Optic nerve coloboma - Parietal bossing - Pectus excavatum - Platybasia - Proportionate short stature - Pulmonary hypertension - Recurrent pneumonia - Recurrent respiratory infections - Scoliosis - Selective tooth agenesis - Slender long bone - Small for gestational age - Sparse eyebrow - Sparse eyelashes - Sparse hair - Spina bifida - Sporadic - Telangiectasia - Thin calvarium - Thin ribs - Thin vermilion border - Underdeveloped nasal alae - Wormian bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What are the symptoms of Koolen de Vries syndrome ? Answer:

What are the signs and symptoms of Koolen de Vries syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Koolen de Vries 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) Cognitive impairment 90% Generalized hypotonia 90% Abnormality of hair texture 75% Feeding difficulties in infancy 75% High palate 75% Joint hypermobility 75% Narrow palate 75% Nasal speech 75% Prominent fingertip pads 75% Long face 74% Cryptorchidism 71% Arachnodactyly 61% Seizures 55% Abnormality of the cardiac septa 50% Aplasia/Hypoplasia of the corpus callosum 50% Blepharophimosis 50% Broad forehead 50% Bulbous nose 50% Coarse facial features 50% Conspicuously happy disposition 50% Delayed speech and language development 50% Displacement of the external urethral meatus 50% Epicanthus 50% High forehead 50% High, narrow palate 50% Hypermetropia 50% Hypopigmentation of hair 50% Macrotia 50% Microdontia 50% Neurological speech impairment 50% Overfolded helix 50% Pear-shaped nose 50% Ptosis 50% Strabismus 50% Upslanted palpebral fissure 50% Ventriculomegaly 50% Broad chin 42% Hip dislocation 33% Hip dysplasia 33% Hypotrophy of the small hand muscles 33% Kyphosis 33% Narrow palm 33% Positional foot deformity 33% Scoliosis 33% Abnormality of dental enamel 7.5% Abnormality of the aortic valve 7.5% Cataract 7.5% Cleft palate 7.5% Dry skin 7.5% Hypothyroidism 7.5% Ichthyosis 7.5% Microcephaly 7.5% Pectus excavatum 7.5% Prominent nasal bridge 7.5% Pyloric stenosis 7.5% Reduced number of teeth 7.5% Short stature 7.5% Small for gestational age 7.5% Underdeveloped nasal alae 7.5% Vesicoureteral reflux 7.5% Wide nasal bridge 7.5% Aortic dilatation 5% Hypotelorism 5% Prominent metopic ridge 5% Spondylolisthesis 5% Vertebral fusion 5% Anteverted ears - Atria septal defect - Autosomal dominant inheritance - Bicuspid aortic valve - Cleft upper lip - Contiguous gene syndrome - Eczema - Failure to thrive - Hydronephrosis - Intellectual disability - Intrauterine growth retardation - Open mouth - Poor speech - Pulmonic stenosis - Sacral dimple - Sporadic - Variable expressivity - Ventricular septal defect - Wide intermamillary distance - 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 Problems with Smell ? Answer:

A Reduced Sense of Smell There are several types of smell disorders depending on how the sense of smell is affected. People who have smell disorders experience either a loss in their ability to smell or changes in the way they perceive odors. Some people have hyposmia, which occurs when their ability to detect certain odors is reduced. This smell disorder is common in people who have upper respiratory infections or nasal congestion. This is usually temporary and goes away when the infection clears up. If You Can't Detect Odor at All Other people can't detect odor at all, which is called anosmia. This type of smell disorder is sometimes the result of head trauma in the nose region, usually from an automobile accident or chronic nasal or sinus infections. It can sometimes be caused by aging. In rare cases, anosmia is inherited. If Your Sense of Smell Is Distorted Sometimes a loss of smell can be accompanied by a change in the perception of odors. This type of smell disorder is called dysosmia. Familiar odors may become distorted, or an odor that usually smells pleasant instead smells foul. Sometimes people with this type of smell disorder also experience headaches, dizziness, shortness of breath, or anxiety. Still others may perceive a smell that isn't present at all, which is called phantosmia. Questions To Ask Yourself If you think you have a problem with your sense of smell, try to identify and record the circumstances at the time you first noticed the problem. Ask yourself the following questions: - When did I first become aware of it? - Did I have a cold or the flu? - Did I have a head injury? - Was I exposed to air pollutants, pollens, pet dander, or dust to which I might be allergic? - Is this a recurring problem? - Does it come at any special time, like during the hay fever season? When did I first become aware of it? Did I have a cold or the flu? Did I have a head injury? Was I exposed to air pollutants, pollens, pet dander, or dust to which I might be allergic? Is this a recurring problem? Does it come at any special time, like during the hay fever season? Bring this information with you when you visit your physician. Also, be prepared to tell him or her about your general health and any medications you are taking. Talking With Your Doctor Diagnosis by a doctor is important to identify and treat the underlying cause of a potential smell disorder. Your doctor may refer you to an otolaryngologist, a specialist in diseases of the ear, nose, and throat. An accurate assessment of a smell disorder will include, among other things, - a physical examination of the ears, nose, and throat - a review of your health history, such as exposure to toxic chemicals or injury, and - a smell test supervised by a health care professional. a physical examination of the ears, nose, and throat a review of your health history, such as exposure to toxic chemicals or injury, and a smell test supervised by a health care professional. Tests for Smell Disorders Some tests measure the smallest amount of odor you can detect. You also may receive a "scratch and sniff" test to determine how well you can identify various odors from a list of possibilities. In this test, the odor is embedded in a circular pad on a piece of paper and released when scratched. In this way, doctors can determine whether a person has a decreased ability to smell (hyposmia), the inability to detect any odors (anosmia), or another kind of smell disorder. In some cases, your doctor may need to perform a nasal examination with a nasal endoscope, an instrument that illuminates and magnifies the areas of the nose where the problem may exist. This test can help identify the area and extent of the problem and help your doctor select the right treatment. If your doctor suspects that upper regions of the nose and nasal sinuses that can't be seen by an endoscope are involved, he or she may order a specialized X-ray procedure, usually a CT scan, to look further into the nose and sinuses. When to See the Doctor If you think you have a smell disorder, see your doctor. Diagnosis of a smell disorder is important because once the cause is found, your doctor may be able to treat your smell disorder. Many types of smell problems are reversible, but if they are not, counseling and self-help techniques may help you cope.

Question: What are the symptoms of Dandy-Walker like malformation with atrioventricular septal defect ? Answer:

What are the signs and symptoms of Dandy-Walker like malformation with atrioventricular septal defect? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker like malformation with atrioventricular septal defect. 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 fontanelles or cranial sutures 90% Cognitive impairment 90% Dandy-Walker malformation 90% Frontal bossing 90% Hypertelorism 90% Muscular hypotonia 90% Neurological speech impairment 90% Wide nasal bridge 90% Abnormality of the aorta 50% Abnormality of the mitral valve 50% Abnormality of the pulmonary artery 50% Abnormality of the tricuspid valve 50% Aplasia/Hypoplasia of the cerebellum 50% Atria septal defect 50% Cleft palate 50% Complete atrioventricular canal defect 50% Depressed nasal bridge 50% Hydrocephalus 50% Hypoplastic left heart 50% Kyphosis 50% Low-set, posteriorly rotated ears 50% Macrocephaly 50% Prominent occiput 50% Recurrent respiratory infections 50% Scoliosis 50% Short nose 50% Short stature 50% Tetralogy of Fallot 50% Ventricular septal defect 50% Abnormality of neuronal migration 7.5% Abnormality of the fingernails 7.5% Abnormality of the hip bone 7.5% Abnormality of the ribs 7.5% Abnormality of the upper urinary tract 7.5% Aplasia/Hypoplasia of the nipples 7.5% Brachydactyly syndrome 7.5% Chorioretinal coloboma 7.5% Displacement of the external urethral meatus 7.5% Ectopic anus 7.5% Finger syndactyly 7.5% Glaucoma 7.5% Hand polydactyly 7.5% Hernia of the abdominal wall 7.5% Hypoplasia of penis 7.5% Intestinal malrotation 7.5% Iris coloboma 7.5% Optic atrophy 7.5% Preauricular skin tag 7.5% Primary adrenal insufficiency 7.5% Short neck 7.5% Single umbilical artery 7.5% Urogenital fistula 7.5% Vertebral segmentation defect 7.5% Adrenal hypoplasia - Anal atresia - Aortic valve stenosis - Autosomal recessive inheritance - Brachycephaly - Coloboma - Double outlet right ventricle - Growth hormone deficiency - Hemivertebrae - High forehead - Hydronephrosis - Hypospadias - Intrauterine growth retardation - Low posterior hairline - Low-set ears - Missing ribs - Posterior fossa cyst - Pulmonic stenosis - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What to do for What I need to know about Kidney Failure and How Its Treated ? Answer:

Eating healthy foods can help you keep up your energy and strength. All dialysis and transplant centers have a dietitian. The dietitian helps people with kidney failure learn about healthy food choices. You should talk with your centers dietitian to make a meal plan. The best diet for you will depend on which kidney failure treatment you choose after talking with your doctor. - Hemodialysis - Limit how much liquid and water you drink. Fluid can build up in your body between hemodialysis sessions. Also, many foods contain water. The extra fluid in your body can cause swelling and high blood pressure. Extra fluid in your body makes your heart work harder. - - Limit sodium, or salt. Watch out for sodium in frozen foods and prepared meals. You can also find sodium in canned foods, hot dogs, and fast food. Sodium makes you thirsty, which makes you drink more water and other liquids than you should. - Read more in the National Kidney Disease Education Program (NKDEP) fact sheet Sodium. - Limit potassium. Potassium is found in many fruits and vegetables such as potatoes, tomatoes, oranges, and bananas. Too much potassium can make your heart beat unevenly. Hemodialysis does not remove potassium from your body well. - Read more in the NKDEP fact sheet Potassium. - Eat protein-rich foods such as meat, fish, and eggs. Hemodialysis removes protein from your body. - Read more in the NKDEP fact sheet Protein. - Limit phosphorus. Phosphorus helps your bones, blood vessels, and muscles work. - However, too much phosphorus can make your bones weak. Limiting phosphorus can be hard. Foods that contain phosphorus, such as meat and milk, also contain protein that you need. You should be careful to eat enough protein, yet not so much that you get too much phosphorus. You can avoid other foods that contain phosphorus, such as cola, tea, beans, and nuts. - Read more in the NKDEP fact sheet Phosphorus. - Find healthy ways to add calories to your diet. Calories are found in all foods and give your body energy. Many people on hemodialysis do not have a good appetite and do not get enough calories. Vegetable oils are good sources of calories. Vegetable oils include olive oil, canola oil, and safflower oil. Use them on breads, rice, and noodles. Hard candy, sugar, honey, jam, and jelly provide calories and energy. However, if you have diabetes, speak with your doctor or dietitian before eating extra sweets. - More information about nutrition for people who are on hemodialysis is provided in the NIDDK health topic, Eat Right to Feel Right on Hemodialysis. - Peritoneal dialysis - Drink as much water and other liquids as you need. If you are holding too much fluid or too little fluid, your doctor needs to know. - Limit sodium to control your thirst and help prevent heart problems. You can use spices other than salt to flavor your food. - - You may need to eat more potassium-rich foods. Peritoneal dialysis removes potassium from your body. Talk with your doctor or dietitian about the right amount of potassium for you. - Eat protein-rich foods. Peritoneal dialysis removes even more protein from your body than hemodialysis. - Limit phosphorus to keep your bones strong. - You may need to limit your calorie intake. The salty water also contains some sugar. Your body absorbs the sugar, which can cause you to gain weight. - Kidney transplant - Limit sodium to help prevent heart problems. - You should be able to eat normal amounts of phosphorus and potassium. You may need to adjust the amounts if blood tests show a problem. - - Eat protein-rich foods to repair muscle breakdown and protect against infection. - You may need to limit your calories. The medicines you take can make you gain weight. - Conservative management - Limit protein to prevent the buildup of wastes in your blood. You may have other needs and limits, depending on how well your treatments work.

Question: What are the symptoms of Acroosteolysis dominant type ? Answer:

What are the signs and symptoms of Acroosteolysis dominant type? The Human Phenotype Ontology provides the following list of signs and symptoms for Acroosteolysis dominant type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the distal phalanges of the toes 90% Brachydactyly syndrome 90% Decreased skull ossification 90% Hypertelorism 90% Long philtrum 90% Osteolysis 90% Periodontitis 90% Reduced bone mineral density 90% Short distal phalanx of finger 90% Short toe 90% Telecanthus 90% Thick eyebrow 90% Wormian bones 90% Abnormal form of the vertebral bodies 50% Abnormality of frontal sinus 50% Abnormality of the fingernails 50% Anteverted nares 50% Arnold-Chiari malformation 50% Arthralgia 50% Bone pain 50% Coarse facial features 50% Dental malocclusion 50% Dolichocephaly 50% Downturned corners of mouth 50% Full cheeks 50% Hearing impairment 50% Joint hypermobility 50% Macrocephaly 50% Narrow mouth 50% Prominent occiput 50% Scoliosis 50% Short neck 50% Thin vermilion border 50% Abnormality of the aortic valve 7.5% Abnormality of the voice 7.5% Bowing of the long bones 7.5% Cataract 7.5% Cleft palate 7.5% Clubbing of toes 7.5% Coarse hair 7.5% Craniofacial hyperostosis 7.5% Displacement of the external urethral meatus 7.5% Dry skin 7.5% Hepatomegaly 7.5% Hydrocephalus 7.5% Hypoplasia of the zygomatic bone 7.5% Intestinal malrotation 7.5% Iris coloboma 7.5% Kyphosis 7.5% Low anterior hairline 7.5% Low-set, posteriorly rotated ears 7.5% Migraine 7.5% Mitral stenosis 7.5% Myopia 7.5% Neurological speech impairment 7.5% Patellar dislocation 7.5% Patent ductus arteriosus 7.5% Pectus carinatum 7.5% Peripheral neuropathy 7.5% Polycystic kidney dysplasia 7.5% Recurrent fractures 7.5% Recurrent respiratory infections 7.5% Skin ulcer 7.5% Splenomegaly 7.5% Synophrys 7.5% Syringomyelia 7.5% Thickened skin 7.5% Umbilical hernia 7.5% Ventricular septal defect 7.5% Wide nasal bridge 7.5% Autosomal dominant inheritance - Juvenile onset - Osteolytic defects of the phalanges 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 are the treatments for Stroke ? Answer:

Surgery Surgery can be used to prevent stroke, to treat stroke, or to repair damage to the blood vessels or malformations in and around the brain. - Carotid endarterectomy is a surgical procedure in which a surgeon removes fatty deposits, or plaque, from the inside of one of the carotid arteries. The procedure is performed to prevent stroke. The carotid arteries are located in the neck and are the main suppliers of blood to the brain. Carotid endarterectomy is a surgical procedure in which a surgeon removes fatty deposits, or plaque, from the inside of one of the carotid arteries. The procedure is performed to prevent stroke. The carotid arteries are located in the neck and are the main suppliers of blood to the brain. Vascular Interventions In addition to surgery, a variety of techniques have been developed to allow certain vascular problems to be treated from inside the artery using specialized catheters with the goal of improving blood flow. (Vascular is a word that refers to blood vessels, arteries, and veins that carry blood throughout the body.) A catheter is a very thin, flexible tube that can be inserted into one of the major arteries of the leg or arm and then directed through the blood vessels to the diseased artery. Physicians trained in this technique called angiography undergo additional training to treat problems in the arteries of the brain or spinal cord. These physicians are called neurointerventionalists. - Angioplasty is widely used by angiographers to open blocked heart arteries, and is also used to prevent stroke. Angioplasty is a procedure in which a special catheter is inserted into the narrowed artery and then a balloon at the tip of the catheter is inflated to open the blocked artery. The procedure improves blood flow to the brain. Angioplasty is widely used by angiographers to open blocked heart arteries, and is also used to prevent stroke. Angioplasty is a procedure in which a special catheter is inserted into the narrowed artery and then a balloon at the tip of the catheter is inflated to open the blocked artery. The procedure improves blood flow to the brain. - Stenting is another procedure used to prevent stroke. In this procedure an angiographer inserts a catheter into the artery in the groin and then positions the tip of the catheter inside the narrowed artery. A stent is a tube-like device made of a mesh-like material that can be slipped into position over the catheter. When positioned inside the narrowed segment the stent is expanded to widen the artery and the catheter is removed. Angioplasty or stenting of the carotid artery can cause pieces of the diseased plaque to loosen. An umbrella-like device is often temporarily expanded above to prevent these pieces from traveling to the brain. Stenting is another procedure used to prevent stroke. In this procedure an angiographer inserts a catheter into the artery in the groin and then positions the tip of the catheter inside the narrowed artery. A stent is a tube-like device made of a mesh-like material that can be slipped into position over the catheter. When positioned inside the narrowed segment the stent is expanded to widen the artery and the catheter is removed. Angioplasty or stenting of the carotid artery can cause pieces of the diseased plaque to loosen. An umbrella-like device is often temporarily expanded above to prevent these pieces from traveling to the brain. - Angiographers also sometimes use clot removal devices to treat stroke patients in the very early stage. One device involves threading a catheter through the artery to the site of the blockage and then vacuuming out the clot. Another corkscrew-like device can be extended from the tip of a catheter and used to grab the clot and pull it out. Drugs can also be injected through the catheter directly into the clot to help dissolve the clot. Angiographers also sometimes use clot removal devices to treat stroke patients in the very early stage. One device involves threading a catheter through the artery to the site of the blockage and then vacuuming out the clot. Another corkscrew-like device can be extended from the tip of a catheter and used to grab the clot and pull it out. Drugs can also be injected through the catheter directly into the clot to help dissolve the clot.

Question: What is (are) Angina ? Answer:

Espaol Angina (an-JI-nuh or AN-juh-nuh) is chest pain or discomfort that occurs if an area of your heart muscle doesn't get enough oxygen-rich blood. Angina may feel like pressure or squeezing in your chest. The pain also can occur in your shoulders, arms, neck, jaw, or back. Angina pain may even feel like indigestion. Angina isn't a disease; it's a symptom of an underlying heart problem. Angina usually is a symptom of coronary heart disease (CHD). CHD is the most common type of heart disease in adults. It occurs if a waxy substance called plaque (plak) builds up on the inner walls of your coronary arteries. These arteries carry oxygen-rich blood to your heart. Plaque Buildup in an Artery Plaque narrows and stiffens the coronary arteries. This reduces the flow of oxygen-rich blood to the heart muscle, causing chest pain. Plaque buildup also makes it more likely that blood clots will form in your arteries. Blood clots can partially or completely block blood flow, which can cause a heart attack. Angina also can be a symptom of coronary microvascular disease (MVD). This is heart disease that affects the hearts smallest coronary arteries. In coronary MVD, plaque doesn't create blockages in the arteries like it does in CHD. Studies have shown that coronary MVD is more likely to affect women than men. Coronary MVD also is called cardiac syndrome X and nonobstructive CHD. Types of Angina The major types of angina are stable, unstable, variant (Prinzmetal's), and microvascular. Knowing how the types differ is important. This is because they have different symptoms and require different treatments. Stable Angina Stable angina is the most common type of angina. It occurs when the heart is working harder than usual. Stable angina has a regular pattern. (Pattern refers to how often the angina occurs, how severe it is, and what factors trigger it.) If you have stable angina, you can learn its pattern and predict when the pain will occur. The pain usually goes away a few minutes after you rest or take your angina medicine. Stable angina isn't a heart attack, but it suggests that a heart attack is more likely to happen in the future. Unstable Angina Unstable angina doesn't follow a pattern. It may occur more often and be more severe than stable angina. Unstable angina also can occur with or without physical exertion, and rest or medicine may not relieve the pain. Unstable angina is very dangerous and requires emergency treatment. This type of angina is a sign that a heart attack may happen soon. Variant (Prinzmetal's) Angina Variant angina is rare. A spasm in a coronary artery causes this type of angina. Variant angina usually occurs while you're at rest, and the pain can be severe. It usually happens between midnight and early morning. Medicine can relieve this type of angina. Microvascular Angina Microvascular angina can be more severe and last longer than other types of angina. Medicine may not relieve this type of angina. Overview Experts believe that nearly 7 million people in the United States suffer from angina. The condition occurs equally among men and women. Angina can be a sign of CHD, even if initial tests don't point to the disease. However, not all chest pain or discomfort is a sign of CHD. Other conditions also can cause chest pain, such as: Pulmonary embolism (a blockage in a lung artery) A lung infection Aortic dissection (tearing of a major artery) Aortic stenosis (narrowing of the hearts aortic valve) Hypertrophic cardiomyopathy (KAR-de-o-mi-OP-ah-thee; heart muscle disease) Pericarditis (inflammation in the tissues that surround the heart) A panic attack All chest pain should be checked by a doctor.

Question: How to diagnose Narcolepsy ? Answer:

It can take as long as 10 to 15 years after the first symptoms appear before narcolepsy is recognized and diagnosed. This is because narcolepsy is fairly rare. Also, many narcolepsy symptoms are like symptoms of other illnesses, such as infections, depression, and sleep disorders. Narcolepsy sometimes is mistaken for learning problems, seizure disorders, or laziness, especially in school-aged children and teens. When narcolepsy symptoms are mild, the disorder is even harder to diagnose. Your doctor will diagnose narcolepsy based on your signs and symptoms, your medical and family histories, a physical exam, and test results. Signs and Symptoms Tell your doctor about any signs and symptoms of narcolepsy that you have. This is important because your doctor may not ask about them during a routine checkup. Your doctor will want to know when you first had signs and symptoms and whether they bother your sleep or daily routine. He or she also will want to know about your sleep habits and how you feel and act during the day. To help answer these questions, you may want to keep a sleep diary for a few weeks. Keep a daily record of how easy it is to fall and stay asleep, how much sleep you get at night, and how alert you feel during the day. For a sample sleep diary, go to the National Heart, Lung, and Blood Institute's "Your Guide to Healthy Sleep." Medical and Family Histories Your doctor may ask whether: You're affected by certain factors that can lead to narcolepsy. Examples of these factors include infections, brain injuries, and autoimmune disorders. Some research suggests that environmental toxins may play a role in triggering narcolepsy. You take medicines and which ones you take. Some medicines can cause daytime sleepiness. Thus, your symptoms may be due to medicine, not narcolepsy. You have symptoms of other sleep disorders that cause daytime sleepiness. You have relatives who have narcolepsy or who have signs or symptoms of the disorder. Physical Exam Your doctor will check you to see whether another condition is causing your symptoms. For example, infections, certain thyroid diseases, drug and alcohol use, and other medical or sleep disorders may cause symptoms similar to those of narcolepsy. Diagnostic Tests Sleep Studies If your doctor thinks you have narcolepsy, he or she will likely suggest that you see a sleep specialist. This specialist may advise you to have sleep studies to find out more about your condition. Sleep studies usually are done at a sleep center. Doctors use the results from two tests to diagnose narcolepsy. These tests are a polysomnogram (PSG) and a multiple sleep latency test (MSLT). Polysomnogram. You usually stay overnight at a sleep center for a PSG. The test records brain activity, eye movements, heart rate, and blood pressure. A PSG can help find out whether you: Fall asleep quickly Go into rapid eye movement (REM) sleep soon after falling asleep Wake up often during the night Multiple sleep latency test. This daytime sleep study measures how sleepy you are. It's often done the day after a PSG. During the test, you're asked to nap for 20minutes every 2 hours throughout the day. (You will nap a total of four or five times.) A technician checks your brain activity during this time. He or she notes how quickly you fall asleep and how long it takes you to reach various stages of sleep. An MSLT finds out how quickly you fall asleep during the day (after a full night's sleep). It also shows whether you go into REM sleep soon after falling asleep. Other Tests Hypocretin test. This test measures the level of hypocretin in the fluid that surrounds your spinal cord. Most people who have narcolepsy have low levels of hypocretin. Hypocretin is a chemical that helps promote wakefulness. To get a sample of spinal cord fluid, a spinal tap (also called a lumbar puncture) is done. For this procedure, your doctor inserts a needle into your lower back area and then withdraws a sample of your spinal fluid.

Question: What are the symptoms of Escobar syndrome, type B ? Answer:

What are the signs and symptoms of Escobar syndrome, type B? The Human Phenotype Ontology provides the following list of signs and symptoms for Escobar syndrome, type B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Amniotic constriction ring 90% Finger syndactyly 90% Limitation of joint mobility 90% Pectus excavatum 90% Scoliosis 90% Symphalangism affecting the phalanges of the hand 90% Webbed neck 90% Abnormality of the foot 50% Aplasia/Hypoplasia of the abdominal wall musculature 50% Aplasia/Hypoplasia of the skin 50% Camptodactyly of finger 50% Epicanthus 50% Facial asymmetry 50% Hypertelorism 50% Intrauterine growth retardation 50% Long face 50% Low-set, posteriorly rotated ears 50% Microcephaly 50% Pointed chin 50% Popliteal pterygium 50% Ptosis 50% Respiratory insufficiency 50% Short stature 50% Telecanthus 50% Umbilical hernia 50% Vertebral segmentation defect 50% Abnormality of female external genitalia 7.5% Abnormality of the abdominal organs 7.5% Abnormality of the aortic valve 7.5% Abnormality of the ribs 7.5% Aortic dilatation 7.5% Aplasia/Hypoplasia of the lungs 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Conductive hearing impairment 7.5% Cryptorchidism 7.5% Dolichocephaly 7.5% Gait disturbance 7.5% Hypoplasia of penis 7.5% Long philtrum 7.5% Low posterior hairline 7.5% Scrotal hypoplasia 7.5% Skeletal muscle atrophy 7.5% Spina bifida occulta 7.5% Strabismus 7.5% Abnormality of the neck - Absence of labia majora - Antecubital pterygium - Anterior clefting of vertebral bodies - Arachnodactyly - Autosomal recessive inheritance - Axillary pterygia - Bilateral camptodactyly - Camptodactyly of toe - Congenital diaphragmatic hernia - Decreased fetal movement - Diaphragmatic eventration - Dislocated radial head - Downturned corners of mouth - Dysplastic patella - Exostosis of the external auditory canal - Fused cervical vertebrae - High palate - Hip dislocation - Hypoplastic nipples - Hypospadias - Inguinal hernia - Intercrural pterygium - Kyphosis - Long clavicles - Low-set ears - Narrow mouth - Neck pterygia - Neonatal respiratory distress - Patellar aplasia - Pulmonary hypoplasia - Rib fusion - Rocker bottom foot - Syndactyly - Talipes calcaneovalgus - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What are the symptoms of Orofaciodigital syndrome 2 ? Answer:

What are the signs and symptoms of Orofaciodigital syndrome 2? Although the signs and symptoms that occur in people with orofaciodigital syndrome type 2 may vary, the following findings may be present:Facial findings Nodules (bumps) of the tongue Cleft lip Thick frenula (a strong cord of tissue that is visible and easily felt if you look in the mirror under your tongue and under your lips) Dystopia canthorum (an unusually wide nasal bridge resulting in widely spaced eyes) Finger and toe findings Clinobrachydactyly (narrow, short fingers and toes) Syndactyly (fused fingers and toes) Polydactyly (presence of more than five fingers on hands and/or five toes on feet) Y-shaped central metacarpal (bone that connects the fingers to the hands) Other possible findings Conductive hearing loss Central nervous system impairments (porencephaly and hydrocephaly) Heart defects (atrioventricular canal [endocardial cushion] defects) The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 2. 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) Bifid tongue 90% Brachydactyly syndrome 90% Conductive hearing impairment 90% Finger syndactyly 90% Postaxial hand polydactyly 90% Short stature 90% Telecanthus 90% Wide nasal bridge 90% Clinodactyly of the 5th finger 75% Preaxial foot polydactyly 75% Abnormality of the metaphyses 50% Accessory oral frenulum 50% Bifid nasal tip 50% Broad nasal tip 50% Depressed nasal bridge 50% Flared metaphysis 50% Hypoplasia of the maxilla 50% Lobulated tongue 50% Malar flattening 50% Median cleft lip 50% Metaphyseal irregularity 50% Midline defect of the nose 50% Reduced number of teeth 50% Tongue nodules 50% Postaxial foot polydactyly 33% Preaxial hand polydactyly 33% Abnormality of the cranial nerves 7.5% Abnormality of the genital system 7.5% Abnormality of the metacarpal bones 7.5% Agenesis of central incisor 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Cleft palate 7.5% Cognitive impairment 7.5% High palate 7.5% Hydrocephalus 7.5% Laryngomalacia 7.5% Pectus excavatum 7.5% Porencephaly 7.5% Scoliosis 7.5% Seizures 7.5% Syndactyly 7.5% Tracheal stenosis 7.5% Wormian bones 7.5% Autosomal recessive inheritance - Bilateral postaxial polydactyly - Hypertelorism - Partial duplication of the phalanges of the hallux - Short palm - 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) Urinary Incontinence in Men ? Answer:

The types of UI in men include - urgency incontinence - stress incontinence - functional incontinence - overflow incontinence - transient incontinence Urgency Incontinence Urgency incontinence happens when a man urinates involuntarily after he has a strong desire, or urgency, to urinate. Involuntary bladder contractions are a common cause of urgency incontinence. Abnormal nerve signals might cause these bladder contractions. Triggers for men with urgency incontinence include drinking a small amount of water, touching water, hearing running water, or being in a cold environmenteven if for just a short whilesuch as reaching into the freezer at the grocery store. Anxiety or certain liquids, medications, or medical conditions can make urgency incontinence worse. The following conditions can damage the spinal cord, brain, bladder nerves, or sphincter nerves, or can cause involuntary bladder contractions leading to urgency incontinence: - Alzheimers diseasea disorder that affects the parts of the brain that control thought, memory, and language - injury to the brain or spinal cord that interrupts nerve signals to and from the bladder - multiple sclerosisa disease that damages the material that surrounds and protects nerve cells, which slows down or blocks messages between the brain and the body - Parkinsons diseasea disease in which the cells that make a chemical that controls muscle movement are damaged or destroyed - strokea condition in which a blocked or ruptured artery in the brain or neck cuts off blood flow to part of the brain and leads to weakness, paralysis, or problems with speech, vision, or brain function Urgency incontinence is a key sign of overactive bladder. Overactive bladder occurs when abnormal nerves send signals to the bladder at the wrong time, causing its muscles to squeeze without enough warning time to get to the toilet. More information is provided in the NIDDK health topic, Nerve Disease and Bladder Control. Stress Incontinence Stress incontinence results from movements that put pressure on the bladder and cause urine leakage, such as coughing, sneezing, laughing, or physical activity. In men, stress incontinence may also occur - after prostate surgery - after neurologic injury to the brain or spinal cord - after trauma, such as injury to the urinary tract - during older age Functional Incontinence Functional incontinence occurs when physical disability, external obstacles, or problems in thinking or communicating keep a person from reaching a place to urinate in time. For example, a man with Alzheimers disease may not plan ahead for a timely trip to a toilet. A man in a wheelchair may have difficulty getting to a toilet in time. Arthritispain and swelling of the jointscan make it hard for a man to walk to the restroom quickly or open his pants in time. Overflow Incontinence When the bladder doesnt empty properly, urine spills over, causing overflow incontinence. Weak bladder muscles or a blocked urethra can cause this type of incontinence. Nerve damage from diabetes or other diseases can lead to weak bladder muscles; tumors and urinary stones can block the urethra. Men with overflow incontinence may have to urinate often, yet they release only small amounts of urine or constantly dribble urine. Transient Incontinence Transient incontinence is UI that lasts a short time. Transient incontinence is usually a side effect of certain medications, drugs, or temporary conditions, such as - a urinary tract infection (UTI), which can irritate the bladder and cause strong urges to urinate - caffeine or alcohol consumption, which can cause rapid filling of the bladder - chronic coughing, which can put pressure on the bladder - constipationhard stool in the rectum can put pressure on the bladder - blood pressure medications that can cause increased urine production - short-term mental impairment that reduces a mans ability to care for himself - short-term restricted mobility

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

Key Points - Adult Hodgkin lymphoma is a disease in which malignant (cancer) cells form in the lymph system. - There are two main types of Hodgkin lymphoma: classical and nodular lymphocyte-predominant. - Age, gender, and Epstein-Barr infection can affect the risk of adult Hodgkin lymphoma. - Signs of adult Hodgkin lymphoma include swollen lymph nodes, fever, night sweats, and weight loss. - Tests that examine the lymph nodes are used to detect (find) and diagnose adult Hodgkin lymphoma. - Certain factors affect prognosis (chance of recovery) and treatment options. Adult Hodgkin lymphoma is a disease in which malignant (cancer) cells form in the lymph system. Adult Hodgkin lymphoma is a type of cancer that develops in the lymph system, 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. It is located 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. Cancer can spread to the liver and lungs. Lymphomas are divided into two general types: Hodgkin lymphoma and non-Hodgkin lymphoma. This summary is about the treatment of adult Hodgkin lymphoma. (See the PDQ summary on Adult Non-Hodgkin Lymphoma Treatment for more information.) Hodgkin lymphoma can occur in both adults and children. Treatment for adults is different than treatment for children. Hodgkin lymphoma may also occur in patients who have acquired immunodeficiency syndrome (AIDS); these patients require special treatment. See the following PDQ summaries for more information: - Childhood Hodgkin Lymphoma Treatment - AIDS-Related Lymphoma Treatment Hodgkin lymphoma in pregnant women is the same as the disease in nonpregnant women of childbearing age. However, treatment is different for pregnant women. This summary includes information about treating Hodgkin lymphoma during pregnancy. There are two main types of Hodgkin lymphoma: classical and nodular lymphocyte-predominant. Most Hodgkin lymphomas are the classical type. The classical type is broken down into the following four subtypes: - Nodular sclerosing Hodgkin lymphoma. - Mixed cellularity Hodgkin lymphoma. - Lymphocyte depletion Hodgkin lymphoma. - Lymphocyte-rich classical Hodgkin lymphoma.

Question: How to diagnose Pneumonia ? Answer:

Pneumonia can be hard to diagnose because it may seem like a cold or the flu. You may not realize it's more serious until it lasts longer than these other conditions. Your doctor will diagnose pneumonia based on your medical history, a physical exam, and test results. Medical History Your doctor will ask about your signs and symptoms and how and when they began. To find out what type of germ is causing the pneumonia, he or she also may ask about: Any recent traveling you've done Your hobbies Your exposure to animals Your exposure to sick people at home, school, or work Your past and current medical conditions, and whether any have gotten worse recently Any medicines you take Whether you smoke Whether you've had flu or pneumonia vaccinations Physical Exam Your doctor will listen to your lungs with a stethoscope. If you have pneumonia, your lungs may make crackling, bubbling, and rumbling sounds when you inhale. Your doctor also may hear wheezing. Your doctor may find it hard to hear sounds of breathing in some areas of your chest. Diagnostic Tests If your doctor thinks you have pneumonia, 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. A chest x ray is the best test for diagnosing pneumonia. However, this test won't tell your doctor what kind of germ is causing the pneumonia. Blood Tests Blood tests involve taking a sample of blood from a vein in your body. A complete blood count (CBC) measures many parts of your blood, including the number of white blood cells in the blood sample. The number of white blood cells can show whether you have a bacterial infection. Your doctor also may recommend a blood culture to find out whether the infection has spread to your bloodstream. This test is used to detect germs in the bloodstream. A blood culture may show which germ caused the infection. If so, your doctor can decide how to treat the infection. Other Tests Your doctor may recommend other tests if you're in the hospital, have serious symptoms, are older, or have other health problems. Sputum test. Your doctor may look at a sample of sputum (spit) collected from you after a deep cough. This may help your doctor find out what germ is causing your pneumonia. Then, he or she can plan treatment. Chest computed tomography (CT) scan. A chest CT scan is a painless test that creates precise pictures of the structures in your chest, such as your lungs. A chest CT scan is a type of x ray, but its pictures show more detail than those of a standard chest xray. Pleural fluid culture. For this test, a fluid sample is taken from the pleural space (a thin space between two layers of tissue that line the lungs and chest cavity). Doctors use a procedure called thoracentesis (THOR-ah-sen-TE-sis) to collect the fluid sample. The fluid is studied for germs that may cause pneumonia. Pulse oximetry. For this test, a small sensor is attached to your finger or ear. The sensor uses light to estimate how much oxygen is in your blood. Pneumonia can keep your lungs from moving enough oxygen into your bloodstream. If you're very sick, your doctor may need to measure the level of oxygen in your blood using a blood sample. The sample is taken from an artery, usually in your wrist. This test is called an arterial blood gas test. Bronchoscopy. Bronchoscopy (bron-KOS-ko-pee) is a procedure used to look inside the lungs' airways. If you're in the hospital and treatment with antibiotics isn't working well, your doctor may use this procedure. Your doctor passes a thin, flexible tube through your nose or mouth, down your throat, and into the airways. The tube has a light and small camera that allow your doctor to see your windpipe and airways and take pictures. Your doctor can see whether something is blocking your airways or whether another factor is contributing to your pneumonia.

Question: Who is at risk for Urinary Tract Infection In Adults? ? Answer:

Although everyone has some risk, some people are more prone to getting UTIs than others. People with spinal cord injuries or other nerve damage around the bladder have difficulty emptying their bladder completely, allowing bacteria to grow in the urine that stays in the bladder. Anyone with an abnormality of the urinary tract that obstructs the flow of urinea kidney stone or enlarged prostate, for exampleis at risk for a UTI. People with diabetes or problems with the bodys natural defense system are more likely to get UTIs. Sexual activity can move microbes from the bowel or vaginal cavity to the urethral opening. If these microbes have special characteristics that allow them to live in the urinary tract, it is harder for the body to remove them quickly enough to prevent infection. Following sexual intercourse, most women have a significant number of bacteria in their urine, but the body normally clears them within 24 hours. However, some forms of birth control increase the risk of UTI. In some women, certain spermicides may irritate the skin, increasing the risk of bacteria invading surrounding tissues. Using a diaphragm may slow urinary flow and allow bacteria to multiply. Condom use is also associated with increased risk of UTIs, possibly because of the increased trauma that occurs to the vagina during sexual activity. Using spermicides with diaphragms and condoms can increase risk even further. Another common source of infection is catheters, or tubes, placed in the urethra and bladder. Catheters interfere with the bodys ability to clear microbes from the urinary tract. Bacteria travel through or around the catheter and establish a place where they can thrive within the bladder. A person who cannot urinate in the normal way or who is unconscious or critically ill often needs a catheter for more than a few days. The Infectious Diseases Society of America recommends using catheters for the shortest time possible to reduce the risk of a UTI.3 Recurrent Infections Many women suffer from frequent UTIs. About 20 percent of young women with a first UTI will have a recurrent infection.4 With each UTI, the risk that a woman will continue having recurrent UTIs increases.5 Some women have three or more UTIs a year. However, very few women will have frequent infections throughout their lives. More typically, a woman will have a period of 1 or 2 years with frequent infections, after which recurring infections cease. Men are less likely than women to have a first UTI. But once a man has a UTI, he is likely to have another because bacteria can hide deep inside prostate tissue. Anyone who has diabetes or a problem that makes it hard to urinate may have repeat infections. Research funded by the National Institutes of Health (NIH) suggests that one factor behind recurrent UTIs may be the ability of bacteria to attach to cells lining the urinary tract. One NIH-funded study found that bacteria formed a protective film on the inner lining of the bladder in mice.6 If a similar process can be demonstrated in humans, the discovery may lead to new treatments to prevent recurrent UTIs. Another line of research has indicated that women who are nonsecretors of certain blood group antigens may be more prone to recurrent UTIs because the cells lining the vagina and urethra may allow bacteria to attach more easily. A nonsecretor is a person with an A, B, or AB blood type who does not secrete the normal antigens for that blood type in bodily fluids, such as fluids that line the bladder wall.7 Infections during Pregnancy Pregnant women seem no more prone to UTIs than other women. However, when a UTI does occur in a pregnant woman, it is more likely to travel to the kidneys. According to some reports, about 4 to 5 percent of pregnant women develop a UTI.8 Scientists think that hormonal changes and shifts in the position of the urinary tract during pregnancy make it easier for bacteria to travel up the ureters to the kidneys and cause infection. For this reason, health care providers routinely screen pregnant women for bacteria in the urine during the first 3 months of pregnancy.

Question: What are the symptoms of Thompson Baraitser syndrome ? Answer:

What are the signs and symptoms of Thompson Baraitser syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thompson Baraitser 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) Amniotic constriction ring 90% Finger syndactyly 90% Limitation of joint mobility 90% Pectus excavatum 90% Scoliosis 90% Symphalangism affecting the phalanges of the hand 90% Webbed neck 90% Abnormality of the foot 50% Aplasia/Hypoplasia of the abdominal wall musculature 50% Aplasia/Hypoplasia of the skin 50% Camptodactyly of finger 50% Epicanthus 50% Facial asymmetry 50% Hypertelorism 50% Intrauterine growth retardation 50% Long face 50% Low-set, posteriorly rotated ears 50% Microcephaly 50% Pointed chin 50% Popliteal pterygium 50% Ptosis 50% Respiratory insufficiency 50% Short stature 50% Telecanthus 50% Umbilical hernia 50% Vertebral segmentation defect 50% Abnormality of female external genitalia 7.5% Abnormality of the abdominal organs 7.5% Abnormality of the aortic valve 7.5% Abnormality of the ribs 7.5% Aortic dilatation 7.5% Aplasia/Hypoplasia of the lungs 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Conductive hearing impairment 7.5% Cryptorchidism 7.5% Dolichocephaly 7.5% Gait disturbance 7.5% Hypoplasia of penis 7.5% Long philtrum 7.5% Low posterior hairline 7.5% Scrotal hypoplasia 7.5% Skeletal muscle atrophy 7.5% Spina bifida occulta 7.5% Strabismus 7.5% Abnormality of the neck - Absence of labia majora - Antecubital pterygium - Anterior clefting of vertebral bodies - Arachnodactyly - Autosomal recessive inheritance - Axillary pterygia - Bilateral camptodactyly - Camptodactyly of toe - Congenital diaphragmatic hernia - Decreased fetal movement - Diaphragmatic eventration - Dislocated radial head - Downturned corners of mouth - Dysplastic patella - Exostosis of the external auditory canal - Fused cervical vertebrae - High palate - Hip dislocation - Hypoplastic nipples - Hypospadias - Inguinal hernia - Intercrural pterygium - Kyphosis - Long clavicles - Low-set ears - Narrow mouth - Neck pterygia - Neonatal respiratory distress - Patellar aplasia - Pulmonary hypoplasia - Rib fusion - Rocker bottom foot - Syndactyly - Talipes calcaneovalgus - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

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

What are the signs and symptoms of Costello syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Costello 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 dental enamel 90% Abnormality of the fingernails 90% Abnormality of the palate 90% Abnormality of the pulmonary valve 90% Acanthosis nigricans 90% Cutis laxa 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% Hyperkeratosis 90% Lack of skin elasticity 90% Macrocephaly 90% Short neck 90% Short stature 90% Ventricular septal defect 90% Woolly hair 90% Abnormal dermatoglyphics 50% Abnormal tendon morphology 50% Abnormality of the mitral valve 50% Abnormality of the tongue 50% Cerebral cortical atrophy 50% Cognitive impairment 50% Cryptorchidism 50% Decreased corneal thickness 50% Epicanthus 50% Full cheeks 50% Hypertrophic cardiomyopathy 50% Hypoplastic toenails 50% Joint hypermobility 50% Polyhydramnios 50% Strabismus 50% Thick lower lip vermilion 50% Thickened nuchal skin fold 50% Ulnar deviation of finger 50% Verrucae 50% Coarse facial features 7.5% Feeding difficulties in infancy 7.5% Generalized hyperpigmentation 7.5% Large earlobe 7.5% Large face 7.5% Low-set, posteriorly rotated ears 7.5% Renal insufficiency 5% Achilles tendon contracture - Anteverted nares - Arnold-Chiari type I malformation - Arrhythmia - Atria septal defect - Autosomal dominant inheritance - Barrel-shaped chest - Bladder carcinoma - Bronchomalacia - Cerebral atrophy - Concave nail - Curly hair - Deep palmar crease - Deep plantar creases - Deep-set nails - Enlarged cerebellum - Failure to thrive - Fragile nails - High palate - Hoarse voice - Hydrocephalus - Hyperextensibility of the finger joints - Hyperpigmentation of the skin - Hypertelorism - Hypoglycemia - Intellectual disability - Limited elbow movement - Low-set ears - Macroglossia - Mitral valve prolapse - Nevus - Obstructive sleep apnea - Overgrowth - Pectus carinatum - Pneumothorax - Pointed chin - Poor suck - Posteriorly rotated ears - Premature birth - Ptosis - Pulmonic stenosis - Pyloric stenosis - Redundant neck skin - Respiratory failure - Rhabdomyosarcoma - Sparse hair - Sporadic - Sudden death - Talipes equinovarus - Thin nail - Tracheomalacia - Ventriculomegaly - Vestibular Schwannoma - Webbed neck - 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 treatments for Celiac Disease ? Answer:

Most people with celiac disease have a significant improvement in symptoms when they follow a gluten-free diet. Health care providers typically refer people to a dietitian who specializes in treating people with the disease. The dietitian will teach the person to avoid gluten while following a healthy and nutritious diet. The dietitian will give the person instructions for how to - read food and product labels and identify ingredients that contain gluten - make healthy choices about the types of foods to eat - design everyday meal plans For most people, following a gluten-free diet will stop symptoms, heal existing intestinal damage, and prevent further damage. Symptoms may improve within days to weeks of starting the diet. The small intestine usually heals in 3 to 6 months in children. Complete healing can take several years in adults. Once the intestine heals, the villi will absorb nutrients from food into the bloodstream normally. Some people with celiac disease show no improvement after starting a gluten-free diet. The most common reason for poor response to dietary changes is that people are still consuming small amounts of gluten, which can damage the small intestineeven in people without symptoms. Most people start responding to the gluten-free diet once they find and eliminate hidden sources of gluten from their diet. Hidden sources of gluten include additives made with wheat, such as - modified food starch - preservatives - stabilizers Did you know that medications and nonfood products may contain gluten? Medications, supplements, and other products may also contain lecithin, a hidden source of gluten. People with celiac disease should ask a pharmacist about the ingredients in - prescription and over-the-counter medications - vitamins and mineral supplements - herbal and nutritional supplements Other products can be ingested or transferred from a person's hands to his or her mouth. Reading product labels can help people avoid gluten exposure. If a product's label does not list its ingredients, the manufacturer should provide a list upon request. Products that can contain gluten include - lipstick, lip gloss, and lip balm - cosmetics - skin and hair products - toothpaste and mouthwash - glue on stamps and envelopes - children's modeling dough, such as Play-Doh Some people who continue to have symptoms even after changing their diet may have other conditions or disorders that are more common in people with celiac disease. These conditions may include - small intestinal bacterial overgrowth, which happens when too many bacteria grow in the small intestine - pancreatic exocrine insufficiency, in which the pancreas does not produce enough digestive juice - microscopic colitis, an inflammation of the colon that a health care provider can see only with a microscope - IBS - lactose intolerance, a condition in which people have symptoms after consuming milk or milk products - other food intolerances, which may occur because of continued damage to the intestine In some cases, people continue to have difficulty absorbing nutrients despite following a strict gluten-free diet. People with this condition, known as refractory celiac disease, have severely damaged intestines that cannot heal. Their intestines are not absorbing enough nutrients, so they may need to receive nutrients intravenously. Researchers continue to evaluate medications to treat refractory celiac disease. Depending on a person's age at diagnosis, some complications of celiac disease will not improve, such as short stature and dental enamel defects. For people with dermatitis herpetiformis, skin symptoms generally respond to a gluten-free diet and may recur if a person adds gluten back into his or her diet. Medications such as dapsone can control the rash's symptoms. Dapsone does not treat intestinal symptoms or damage, so people with dermatitis herpetiformis should maintain a gluten-free diet, even if they don't have digestive symptoms. Even when a person follows a gluten-free diet, the skin lesions from dermatitis herpetiformis may take months or even years to fully heal and often recur over the years.

Question: What is (are) abdominal wall defect ? Answer:

An abdominal wall defect is an opening in the abdomen through which various abdominal organs can protrude. This opening varies in size and can usually be diagnosed early in fetal development, typically between the tenth and fourteenth weeks of pregnancy. There are two main types of abdominal wall defects: omphalocele and gastroschisis. Omphalocele is an opening in the center of the abdominal wall where the umbilical cord meets the abdomen. Organs (typically the intestines, stomach, and liver) protrude through the opening into the umbilical cord and are covered by the same protective membrane that covers the umbilical cord. Gastroschisis is a defect in the abdominal wall, usually to the right of the umbilical cord, through which the large and small intestines protrude (although other organs may sometimes bulge out). There is no membrane covering the exposed organs in gastroschisis. Fetuses with omphalocele may grow slowly before birth (intrauterine growth retardation) and they may be born prematurely. Individuals with omphalocele frequently have multiple birth defects, such as a congenital heart defect. Additionally, underdevelopment of the lungs is often associated with omphalocele because the abdominal organs normally provide a framework for chest wall growth. When those organs are misplaced, the chest wall does not form properly, providing a smaller than normal space for the lungs to develop. As a result, many infants with omphalocele have respiratory insufficiency and may need to be supported with a machine to help them breathe (mechanical ventilation). Rarely, affected individuals who have breathing problems in infancy experience recurrent lung infections or asthma later in life. Affected infants often have gastrointestinal problems including a backflow of stomach acids into the esophagus (gastroesophageal reflux) and feeding difficulty; these problems can persist even after treatment of omphalocele. Large omphaloceles or those associated with multiple additional health problems are more often associated with fetal death than cases in which omphalocele occurs alone (isolated). Omphalocele is a feature of many genetic syndromes. Nearly half of individuals with omphalocele have a condition caused by an extra copy of one of the chromosomes in each of their cells (trisomy). Up to one-third of people born with omphalocele have a genetic condition called Beckwith-Wiedemann syndrome. Affected individuals may have additional signs and symptoms associated with these genetic conditions. Individuals who have gastroschisis rarely have other birth defects and seldom have chromosome abnormalities or a genetic condition. Most affected individuals experience intrauterine growth retardation and are small at birth; many affected infants are born prematurely. With gastroschisis, the protruding organs are not covered by a protective membrane and are susceptible to damage due to direct contact with amniotic fluid in the womb. Components of the amniotic fluid may trigger immune responses and inflammatory reactions against the intestines that can damage the tissue. Constriction around exposed organs at the abdominal wall opening late in fetal development may also contribute to organ injury. Intestinal damage causes impairment of the muscle contractions that move food through the digestive tract (peristalsis) in most children with gastroschisis. In these individuals, peristalsis usually improves in a few months and intestinal muscle contractions normalize. Rarely, children with gastroschisis have a narrowing or absence of a portion of intestine (intestinal atresia) or twisting of the intestine. After birth, these intestinal malformations can lead to problems with digestive function, further loss of intestinal tissue, and a condition called short bowel syndrome that occurs when areas of the small intestine are missing, causing dehydration and poor absorption of nutrients. Depending on the severity of the condition, intravenous feedings (parenteral nutrition) may be required. The health of an individual with gastroschisis depends largely on how damaged his or her intestine was before birth. When the abdominal wall defect is repaired and normal intestinal function is recovered, the vast majority of affected individuals have no health problems related to the repaired defect later in life.

Question: What are the symptoms of Alpha-thalassemia x-linked intellectual disability syndrome ? Answer:

What are the signs and symptoms of Alpha-thalassemia x-linked intellectual disability syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-thalassemia x-linked intellectual disability 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 fontanelles or cranial sutures 90% Cognitive impairment 90% Cryptorchidism 90% Hypertelorism 90% Malar flattening 90% Male pseudohermaphroditism 90% Microcephaly 90% Neurological speech impairment 90% Abnormality of the heme biosynthetic pathway 50% Abnormality of the tongue 50% Anteverted nares 50% Autism 50% Depressed nasal ridge 50% Epicanthus 50% Hypoplasia of penis 50% Muscular hypotonia 50% Seizures 50% Short stature 50% Talipes 50% Telecanthus 50% Thick lower lip vermilion 50% Abnormality of movement 7.5% Abnormality of the kidney 7.5% Abnormality of the teeth 7.5% Aganglionic megacolon 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Brachydactyly syndrome 7.5% Cerebral cortical atrophy 7.5% Clinodactyly of the 5th finger 7.5% Constipation 7.5% Encephalitis 7.5% Feeding difficulties in infancy 7.5% Flexion contracture 7.5% Hemiplegia/hemiparesis 7.5% Limitation of joint mobility 7.5% Myopia 7.5% Nausea and vomiting 7.5% Optic atrophy 7.5% Recurrent urinary tract infections 7.5% Self-injurious behavior 7.5% Sensorineural hearing impairment 7.5% Visual impairment 7.5% Volvulus 7.5% Abnormality of metabolism/homeostasis - Absent frontal sinuses - Cerebral atrophy - Clinodactyly - Coxa valga - Depressed nasal bridge - Gastroesophageal reflux - Hemivertebrae - Hydronephrosis - Hypochromic microcytic anemia - Hypospadias - Infantile muscular hypotonia - Intellectual disability - Kyphoscoliosis - Low-set ears - Macroglossia - Micropenis - Microtia - Perimembranous ventricular septal defect - Phenotypic variability - Posteriorly rotated ears - Postnatal growth retardation - Protruding tongue - Radial deviation of finger - Reduced alpha/beta synthesis ratio - Renal agenesis - Shawl scrotum - Short nose - Spasticity - Talipes equinovarus - Tapered finger - Umbilical hernia - U-Shaped upper lip vermilion - Widely-spaced maxillary central incisors - 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: How to diagnose Pyelonephritis: Kidney Infection ? Answer:

The tests used to diagnose pyelonephritis depend on the patients age, gender, and response to treatment and include the following: - Urinalysis. Urinalysis 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. The presence of white blood cells and bacteria in the urine indicate infection. - Urine culture. A urine culture is performed by placing part of a urine sample in a tube or dish with a substance that encourages any bacteria present to grow. The urine sample is collected in a special container in a health care providers office or commercial facility and sent to a lab for culture. Once the bacteria have multiplied, which usually takes 1 to 3 days, they can be identified. The health care provider can then determine the best treatment. - Ultrasound. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging; anesthesia is not needed. The images can show obstructions in the urinary tract. Ultrasound is often used for people who do not respond to treatment within 72 hours. - Computerized tomography (CT) scan. CT scans use a combination of x rays and computer technology to create three-dimensional (3-D) images. A CT scan may include the injection of a special dye, called contrast medium. CT scans require the person to lie on a table that slides into a tunnel-shaped device where the x rays are taken. The procedure is performed in an outpatient center or hospital by an x-ray technician, and the images are interpreted by a radiologist. Anesthesia is not needed. CT scans can show obstructions in the urinary tract. The test is often used for people who do not respond to treatment within 72 hours. - Voiding cystourethrogram (VCUG). A 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. Anesthesia is not needed, but sedation may be used for some people. The bladder and urethra are filled with 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 person urinates. This test can show abnormalities of the inside of the urethra and bladder and is usually used to detect VUR in children. - Digital rectal examination (DRE). A DRE is a physical exam of the prostate that is performed in the health care providers office. Anesthesia is not needed. To perform the exam, the health care provider asks the person to bend over a table or lie on his side while holding his knees close to his chest. The health care provider slides a gloved, lubricated finger into the rectum and feels the part of the prostate that lies in front of the rectum. Men with suspected pyelonephritis may have a DRE to determine whether a swollen prostate may be obstructing the neck of the bladder. - Dimercaptosuccinic acid (DMSA) scintigraphy. DMSA scintigraphy is an imaging technique that relies on the detection of small amounts of radiation after injection of radioactive material. Because the dose of radioactive material is small, the risk of causing damage to cells is low. The procedure is performed in an outpatient center or hospital by a specially trained technician, and the images are interpreted by a radiologist. Anesthesia is not needed. Radioactive material is injected into a vein in the persons arm and travels through the body to the kidneys. Special cameras and computers are used to create images of the radioactive material as it passes through the kidneys. The radioactive material makes the parts of the kidney that are infected or scarred stand out on the image. DMSA scintigraphy is used to show the severity of kidney infection or kidney damage, such as scarring.

Question: What causes Hypothyroidism ? Answer:

Hypothyroidism has several causes, including - Hashimotos disease - thyroiditis, or inflammation of the thyroid - congenital hypothyroidism, or hypothyroidism that is present at birth - surgical removal of part or all of the thyroid - radiation treatment of the thyroid - some medications Less commonly, hypothyroidism is caused by too much or too little iodine in the diet or by abnormalities of the pituitary gland. Hashimotos Disease Hashimotos disease, also called chronic lymphocytic thyroiditis, is the most common cause of hypothyroidism in the United States.1 Hashimotos disease is a form of chronic inflammation of the thyroid gland. Hashimotos disease is also an autoimmune disorder. Normally, the immune system protects the body against foreign invaderssuch as viruses and bacteriathat can cause illness. But in autoimmune diseases, the immune system attacks the bodys own cells and organs. With Hashimotos disease, the immune system attacks the thyroid, causing inflammation and interfering with its ability to produce thyroid hormones. More information is provided in the NIDDK health topic, Hashimotos Disease. Thyroiditis Thyroiditis causes stored thyroid hormone to leak out of the thyroid gland. At first, the leakage raises hormone levels in the blood, leading to hyperthyroidismwhen thyroid hormone levels are too highthat lasts for 1 or 2 months. Most people then develop hypothyroidism before the thyroid is completely healed. Several types of thyroiditis can cause hyperthyroidism followed by hypothyroidism: - Subacute thyroiditis. This condition involves painful inflammation and enlargement of the thyroid. Experts are not sure what causes subacute thyroiditis, but it may be related to a viral or bacterial infection. The condition usually goes away on its own in a few months. - Postpartum thyroiditis. This type of thyroiditis develops after a woman gives birth. For more information, see the section titled What happens with pregnancy and thyroid conditions? - Silent thyroiditis. This type of thyroiditis is called silent because it is painless, as is postpartum thyroiditis, even though the thyroid may be enlarged. Like postpartum thyroiditis, silent thyroiditis is probably an autoimmune condition and sometimes develops into permanent hypothyroidism. Congenital Hypothyroidism Some babies are born with a thyroid that is not fully developed or does not function properly. If untreated, congenital hypothyroidism can lead to mental retardation and growth failure. Early treatment can prevent these complications, so most newborns in the United States are screened for hypothyroidism. Surgical Removal of the Thyroid When part of the thyroid is removed, the remaining part may produce normal amounts of thyroid hormone, but some people who have this surgery develop hypothyroidism. Removal of the entire thyroid always results in hypothyroidism. Part or all of the thyroid may be surgically removed as a treatment for - hyperthyroidism - a large goiter, which is an enlarged thyroid that may cause the neck to appear swollen and can interfere with normal breathing and swallowing - thyroid nodules, which are noncancerous tumors, called adenomas, or lumps in the thyroid that can produce excess thyroid hormone - thyroid cancer Radiation Treatment of the Thyroid Radioactive iodine, a common treatment for hyperthyroidism, gradually destroys the cells of the thyroid. Most people who receive radioactive iodine treatment eventually develop hypothyroidism. People with Hodgkins disease, other lymphomas, and head or neck cancers are treated with radiation, which can also damage the thyroid. Medications Some drugs can interfere with thyroid hormone production and lead to hypothyroidism, including - amiodarone, a heart medication - interferon alpha, a cancer medication - lithium, a bipolar disorder medication - interleukin-2, a kidney cancer medication

Question: What are the symptoms of Kidney Disease ? Answer:

Kidney Disease Kidney disease is often called a "silent" disease, because most people have no symptoms with early kidney disease. In fact, you might feel just fine until your kidneys have almost stopped working. Do NOT wait for symptoms! If you are at risk for kidney disease, talk to your health care provider about getting tested. (Watch the video to learn more about the symptoms of kidney disease. To enlarge the videos on this page, click the brackets in the lower right-hand corner of the video screen. To reduce the videos, press the Escape (Esc) button on your keyboard.) Symptoms of Kidney Failure Kidney failure means that damaged kidneys are filtering less than 15% of the amount of blood filtered by healthy kidneys. If kidney disease progresses to kidney failure, a number of symptoms may occur. Some people experience fatigue, some lose their appetite, and some have leg cramps. These problems are caused by waste products that build up in the blood, a condition known as uremia. Healthy kidneys remove waste products from the blood. When the kidneys stop working, uremia occurs. The kidneys also make hormones and balance the minerals in the blood. When the kidneys stop working, most people develop conditions that affect the blood, bones, nerves, and skin. These problems may include itching, sleep problems, restless legs, weak bones, joint problems, and depression. How Kidney Disease Is Diagnosed Blood and urine tests are the only way to check for kidney damage or measure kidney function. It is important for you to get checked for kidney disease if you have the key risk factors, which are - diabetes - high blood pressure - heart disease - a family history of kidney failure. diabetes high blood pressure heart disease a family history of kidney failure. If you are at risk, ask about your kidneys at your next medical appointment. The sooner you know you have kidney disease, the sooner you can get treatment to help delay or prevent kidney failure. If you have diabetes, high blood pressure, heart disease, or a family history of kidney failure, you should get a blood and urine test to check your kidneys. Talk to your provider about how often you should be tested. (Watch the video to learn more about tests for kidney disease.) Blood Test The blood test checks your GFR. GFR stands for glomerular (glow-MAIR-you-lure) filtration rate. GFR is a measure of how much blood your kidneys filter each minute. This shows how well your kidneys are working. GFR is reported as a number. - A GFR of 60 or higher is in the normal range. - A GFR below 60 may mean you have kidney disease. However, because GFR decreases as people age, other information may be needed to determine if you actually have kidney disease. - A GFR of 15 or lower may mean kidney failure. A GFR of 60 or higher is in the normal range. A GFR below 60 may mean you have kidney disease. However, because GFR decreases as people age, other information may be needed to determine if you actually have kidney disease. A GFR of 15 or lower may mean kidney failure. You can't raise your GFR, but you can try to keep it from going lower. Ask your healthcare provider what you can do to keep your kidneys healthy. Learn more about the GFR test. Urine Test The urine test looks for albumin (al-BYOO-min), a type of protein, in your urine. A healthy kidney does not let albumin pass into the urine. A damaged kidney lets some albumin pass into the urine. This test has several different names. You could be told that you are being screened for "proteinuria" or "albuminuria" or "microalbuminuria." Or you could be told that your "urine albumin-to-creatinine ratio" (UACR) is being measured. If you have albumin or protein in your urine, it could mean you have kidney disease. - A urine albumin result below 30 is normal. - A urine albumin result above 30 is not normal and may mean kidney disease. A urine albumin result below 30 is normal. A urine albumin result above 30 is not normal and may mean kidney disease. Learn more about the urine albumin test. Your healthcare provider might do additional tests to be sure.

Question: How to prevent Problems with Smell ? Answer:

Problems with smell that occur with aging are not preventable. However, you can protect yourself against other causes of smell loss with these steps. - Treat Sinus and Nasal Conditions. Swollen sinuses and nasal passages may cause total or partial loss of smell. Your doctor may prescribe an antibiotic or anti-inflammatory drug to reduce nasal swelling from chronic sinus infections, a major cause of smell loss. Treat Sinus and Nasal Conditions. Swollen sinuses and nasal passages may cause total or partial loss of smell. Your doctor may prescribe an antibiotic or anti-inflammatory drug to reduce nasal swelling from chronic sinus infections, a major cause of smell loss. - Prevent Upper Respiratory Infections. Colds and respiratory infections such as the flu can lead to smell disorders. Wash your hands frequently, especially during the winter months, and get a flu shot every year. For more information about the flu vaccine, visit Key Facts About Seasonal Flu Vaccine Prevent Upper Respiratory Infections. Colds and respiratory infections such as the flu can lead to smell disorders. Wash your hands frequently, especially during the winter months, and get a flu shot every year. For more information about the flu vaccine, visit Key Facts About Seasonal Flu Vaccine - Avoid Allergens. Keep away from allergens such as ragweed, grasses, and pet dander that can cause seasonal allergies or nasal congestion. Avoid Allergens. Keep away from allergens such as ragweed, grasses, and pet dander that can cause seasonal allergies or nasal congestion. - Avoid Head Injuries. Previous surgery or trauma to the head can impair your sense of smell because the olfactory nerves may be cut, blocked, or physically damaged. Always wear seatbelts when riding in a car and a helmet when bicycling. Avoid Head Injuries. Previous surgery or trauma to the head can impair your sense of smell because the olfactory nerves may be cut, blocked, or physically damaged. Always wear seatbelts when riding in a car and a helmet when bicycling. - Avoid Exposure to Toxic Chemicals. Avoid contact with chemicals that might cause smell problems such as paints, insecticides, and solvents, or wear a respirator if you cannot avoid contact. Avoid Exposure to Toxic Chemicals. Avoid contact with chemicals that might cause smell problems such as paints, insecticides, and solvents, or wear a respirator if you cannot avoid contact. - Review Your Medications. If you are taking medications such as antibiotics or antihistamines and notice a change in your sense of smell, talk to your doctor. You may be able to adjust or change your medicine to one that will not cause a problem with smell. Review Your Medications. If you are taking medications such as antibiotics or antihistamines and notice a change in your sense of smell, talk to your doctor. You may be able to adjust or change your medicine to one that will not cause a problem with smell. - Dont Smoke. It impairs the ability to identify and enjoy odors. For free help to quit smoking, visit www.Smokefree.gov Dont Smoke. It impairs the ability to identify and enjoy odors. For free help to quit smoking, visit www.Smokefree.gov - Treat Nasal Polyps If Necessary. If you have nasal polyps, having them removed may restore smell. Treat Nasal Polyps If Necessary. If you have nasal polyps, having them removed may restore smell. - Treat Other Conditions. If you have diabetes, thyroid abnormalities, certain vitamin deficiencies, or are malnourished and you experience a loss of smell or taste, tell your doctor. In some cases, when the condition that is causing the problem with smell is treated, the sense of smell returns. Treat Other Conditions. If you have diabetes, thyroid abnormalities, certain vitamin deficiencies, or are malnourished and you experience a loss of smell or taste, tell your doctor. In some cases, when the condition that is causing the problem with smell is treated, the sense of smell returns.

Question: What are the symptoms of Mowat-Wilson syndrome ? Answer:

What are the signs and symptoms of Mowat-Wilson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mowat-Wilson 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) Intellectual disability 100% Abnormality of the eyebrow 90% Cognitive impairment 90% Deeply set eye 90% External ear malformation 90% Frontal bossing 90% High forehead 90% Large earlobe 90% Microcephaly 90% Seizures 90% Aganglionic megacolon 62% Aplasia/Hypoplasia of the corpus callosum 50% Broad columella 50% Constipation 50% Cryptorchidism 50% Cupped ear 50% Displacement of the external urethral meatus 50% Epicanthus 50% Esotropia 50% Fine hair 50% Hypertelorism 50% Iris coloboma 50% Low hanging columella 50% Low-set, posteriorly rotated ears 50% Muscular hypotonia 50% Open mouth 50% Pointed chin 50% Prominent nasal tip 50% Ptosis 50% Short stature 50% Tapered finger 50% Uplifted earlobe 50% Wide nasal bridge 50% Agenesis of corpus callosum 42% Bifid scrotum 33% Generalized muscle hypertrophy 33% Hypospadias 33% Abnormal localization of kidney 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Camptodactyly of finger 7.5% Cerebral cortical atrophy 7.5% Cleft palate 7.5% Cleft upper lip 7.5% Deep plantar creases 7.5% Finger syndactyly 7.5% Hallux valgus 7.5% Nystagmus 7.5% Patent ductus arteriosus 7.5% Preaxial foot polydactyly 7.5% Strabismus 7.5% Submucous cleft hard palate 7.5% Supernumerary nipple 7.5% Tetralogy of Fallot 7.5% Ventricular septal defect 7.5% Ventriculomegaly 7.5% Vesicoureteral reflux 7.5% Abdominal distention - Abnormality of metabolism/homeostasis - Abnormality of the abdominal wall - Abnormality of the rib cage - Absent speech - Atria septal defect - Autosomal dominant inheritance - Broad eyebrow - Delayed eruption of teeth - Drooling - Happy demeanor - Hypoplasia of the corpus callosum - Intellectual disability, moderate - Motor delay - Pectus carinatum - Pectus excavatum - Pulmonary artery sling - Pulmonary artery stenosis - Pulmonic stenosis - Vomiting - 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 Gracile bone dysplasia ? Answer:

What are the signs and symptoms of Gracile bone dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Gracile bone 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 bone mineral density 90% Abnormality of the spleen 90% Bowing of the long bones 90% Decreased skull ossification 90% Micromelia 90% Narrow mouth 90% Recurrent fractures 90% Short philtrum 90% Short stature 90% Skeletal dysplasia 90% Slender long bone 90% Tented upper lip vermilion 90% Abnormality of pelvic girdle bone morphology 50% Abnormality of the clavicle 50% Abnormality of the fingernails 50% Abnormality of the helix 50% Abnormality of the metacarpal bones 50% Abnormality of the metaphyses 50% Abnormality of the ribs 50% Anteverted nares 50% Aplasia/Hypoplasia affecting the eye 50% Aplasia/Hypoplasia of the lungs 50% Aplasia/Hypoplasia of the thymus 50% Brachydactyly syndrome 50% Cloverleaf skull 50% Depressed nasal bridge 50% Enlarged thorax 50% Frontal bossing 50% Hypoplasia of penis 50% Intrauterine growth retardation 50% Low-set, posteriorly rotated ears 50% Malar flattening 50% Platyspondyly 50% Renal hypoplasia/aplasia 50% Respiratory insufficiency 50% Short distal phalanx of finger 50% Short nose 50% Short toe 50% Tapered finger 50% Wide nasal bridge 50% Abnormality of neuronal migration 7.5% Abnormality of the fontanelles or cranial sutures 7.5% Aplasia/Hypoplasia involving the nose 7.5% Aplasia/Hypoplasia of the eyebrow 7.5% Blepharophimosis 7.5% Blue sclerae 7.5% Cataract 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Displacement of the external urethral meatus 7.5% Hepatomegaly 7.5% Hypertelorism 7.5% Hypotelorism 7.5% Iris coloboma 7.5% Microcornea 7.5% Muscular hypotonia 7.5% Oligohydramnios 7.5% Rocker bottom foot 7.5% Upslanted palpebral fissure 7.5% Asplenia 5% Aniridia - Ascites - Autosomal dominant inheritance - Failure to thrive - Flared metaphysis - Hydrocephalus - Hypocalcemia - Hypoplastic spleen - Micropenis - Microphthalmia - Prominent forehead - Seizures - 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 22q13.3 deletion syndrome ? Answer:

What are the signs and symptoms of 22q13.3 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 22q13.3 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Accelerated skeletal maturation 90% Delayed speech and language development 90% Hypoplastic toenails 90% Impaired pain sensation 90% Large hands 90% Muscular hypotonia 90% Neonatal hypotonia 90% Neurological speech impairment 90% Tall stature 90% Autism 75% Bruxism 75% Hyperorality 75% Long eyelashes 75% Poor eye contact 75% Abnormal nasal morphology 50% Abnormality of immune system physiology 50% Behavioral abnormality 50% Broad-based gait 50% Bulbous nose 50% Deeply set eye 50% Dolichocephaly 50% Full cheeks 50% Heat intolerance 50% Hypohidrosis 50% Macrotia 50% Malar flattening 50% Palpebral edema 50% Pointed chin 50% Ptosis 50% Sacral dimple 50% Thick eyebrow 50% Unsteady gait 50% Wide nasal bridge 50% 2-3 toe syndactyly 33% Clinodactyly of the 5th finger 33% Dental malocclusion 33% Epicanthus 33% Episodic vomiting 33% Gastroesophageal reflux 33% High palate 33% Long philtrum 33% Lymphedema 33% Seizures 33% Strabismus 33% Aggressive behavior 25% Hearing impairment 20% Arachnoid cyst 15% Tongue thrusting 15% Cellulitis 10% Abnormality of the periventricular white matter 7.5% Abnormality of the teeth 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cerebral cortical atrophy 7.5% Cognitive impairment 7.5% Delayed CNS myelination 7.5% Macrocephaly 7.5% Obesity 7.5% Patent ductus arteriosus 7.5% Polycystic kidney dysplasia 7.5% Umbilical hernia 7.5% Ventricular septal defect 7.5% Ventriculomegaly 7.5% Vesicoureteral reflux 7.5% Cortical visual impairment 6% Microcephaly 1% Concave nasal ridge - Feeding difficulties - Generalized hypotonia - Hyporeflexia - Intellectual disability, moderate - Motor delay - Prominent supraorbital ridges - Protruding ear - Short chin - Sporadic - Toenail dysplasia - 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 Mulibrey Nanism ? Answer:

What are the signs and symptoms of Mulibrey Nanism? Mulibrey nanism (MN) is characterized by progressive growth failure that begins prenatally (before birth). Hypotonia (poor muscle tone) is common. Newborns often have characteristic abnormalities of the head and face, including a triangularly shaped face. Yellow discoloration of the eyes and other ocular abnormalities may be present, but vision is usually normal. More than 90 percent of affected individuals have a J-shaped sella turcica, which is a depression in the sphenoid bone at the base of the skull. Infants with mulibrey nanism may also have symptoms related to overgrowth of the fibrous sac surrounding the heart (constrictive pericarditis). When constrictive pericarditis is present at birth, affected infants may have a bluish discoloration of the skin (cyanosis), especially on the lips and fingertips. Individuals with MN typically have a high-pitched voice. Other symptoms may include abnormally prominent veins in the neck, congestion in the lungs, abnormal fluid accumulation in the abdomen (ascites), swelling of the arms and/or legs (peripheral edema), and/or enlargement of the heart (cardiac hypertrophy) and/or liver (hepatomegaly). There may also be elevated pressure in the veins, congestion or blockage in the main artery serving the lungs (pulmonary artery), and/or a build-up of fibrous tissue in the walls of the lungs (pulmonary fibrosis). Associated complications of these conditions may lead to congestive heart failure. In some cases, individuals with mulibrey nanism may have additional physical abnormalities, such as an unusually thin shinbone (fibrous tibia dysplasia). Large cerebral ventricles in the brain and delayed motor development are uncommon findings. Most affected individuals have normal intelligence. Individuals with mulibrey nanism often have underdevelopment of various endocrine glands, that leads to hormone deficiencies. Delayed puberty sometimes occurs, accompanied by infrequent or very light menstrual periods. Females have an increased risk for premature ovarian failure and ovarian tumors. The Human Phenotype Ontology provides the following list of signs and symptoms for Mulibrey Nanism. 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) Decreased body weight 90% Intrauterine growth retardation 90% Macrocephaly 90% Short stature 90% Hepatomegaly 50% Wide nasal bridge 50% Absent frontal sinuses - Astigmatism - Autosomal recessive inheritance - Congestive heart failure - Dental crowding - Depressed nasal bridge - Dolichocephaly - Dysarthria - Frontal bossing - High pitched voice - Hypertelorism - Hypodontia - Hypoplastic frontal sinuses - J-shaped sella turcica - Microglossia - Muscular hypotonia - Myocardial fibrosis - Nephroblastoma (Wilms tumor) - Nevus - Pericardial constriction - Pigmentary retinopathy - Strabismus - Triangular face - Ventriculomegaly - Weak voice - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What to do for Treatment Methods for Kidney Failure: Peritoneal Dialysis ? Answer:

Eating the right foods can help you feel better while on peritoneal dialysis. Talk with your dialysis centers dietitian to find a meal plan that works for you. Your dietary needs will depend on your treatment and other factors such as your weight and activity level. Staying healthy with CKD requires watching what is in your diet: - Protein is in foods from animals and plants. Protein provides the building blocks that maintain and repair muscles, organs, and other parts of your body. Peritoneal dialysis can remove proteins from your body, so eat high-quality, protein-rich foods such as meat, fish, and eggs. However, many high-protein foods also contain phosphorous, which can weaken your bones. Talk with your dietitian about ways to get the protein you need without getting too much phosphorous. - Phosphorus is a mineral that helps your bones stay healthy and your blood vessels and muscles work. Phosphorus is a natural part of foods rich in protein, and food producers often add it to many processed foods. Phosphorus can weaken your bones and make your skin itch if you consume too much. Peritoneal dialysis may not remove enough phosphorus from your body, so you will probably need to limit or avoid high-phosphorus foods such as milk and cheese, dried beans, peas, colas, nuts, and peanut butter. You may also need to take a pill called a phosphate binder that keeps phosphorus in your food from entering your bloodstream. - Fluid includes water and drinks such as fruit juice and milk and water in foods such as fruits, vegetables, ice cream, gelatin, soup, and ice pops. You need water for your body to function properly; however, too much can cause swelling and make your heart work harder. Over time, having too much fluid in your body can cause high blood pressure and congestive heart failure. Peritoneal dialysis might cause you to have either too much or too little fluid, depending on the strength of the solution you use. Your diet can also influence whether you have too much or too little fluid. Your dietitian will help you determine how much liquid you need to consume each day. - Sodium is a part of salt. Many canned, packaged, frozen, and fast foods contain sodium. Sodium is also a part of many condiments, seasonings, and meats. Too much sodium makes you thirsty, which makes you drink more liquid. Try to eat fresh foods that are naturally low in sodium, and look for products that say low sodium on the label, especially in canned and frozen foods. - Potassium is a mineral that helps your nerves and muscles work the right way. Peritoneal dialysis can pull too much potassium from your blood, so you may need to eat more high-potassium foods such as bananas, oranges, potatoes, and tomatoes. However, be careful not to eat too much potassium. Your dietitian will help you choose the right amount. - Calories are units for measuring the energy provided by foods and drinks. Eating foods with too many calories, such as oily and sugary foods, can make you gain weight. Your body can absorb the dextrose from your dialysis solution, which can increase your calorie intake. You may find you need to take in fewer calories to prevent weight gain. Your dietitian can help you create and follow a diet to stay at a healthy weight. - Supplements help provide some of the vitamins and minerals that may be missing from your diet. Peritoneal dialysis also removes some vitamins from your body. Your doctor may prescribe a vitamin and mineral supplement that scientists have designed specifically for people with CKD and kidney failure. Never take vitamin and mineral supplements that you can buy over the counter. They may be harmful to you. Talk with your doctor before taking any medicine, including vitamin and mineral supplements, that he or she has not prescribed for you. You may have a difficult time changing your diet at first. Eating the right foods will help you feel better. You will have more strength and energy. More information is provided in the NIDDK health topic, Make the Kidney Connection: Food Tips and Healthy Eating Ideas.

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

Key Points - Childhood ependymoma is a disease in which malignant (cancer) cells form in the tissues of the brain and spinal cord. - There are different types of ependymomas. - The part of the brain that is affected depends on where the ependymoma forms. - The cause of most childhood brain tumors is unknown. - The signs and symptoms of childhood ependymoma are not the same in every child. - Tests that examine the brain and spinal cord are used to detect (find) childhood ependymoma. - Childhood ependymoma is diagnosed and removed in surgery. - Certain factors affect prognosis (chance of recovery) and treatment options. Childhood ependymoma is a disease in which malignant (cancer) cells form in the tissues of the brain and spinal cord. The brain controls vital functions such as memory and learning, emotion, and the senses (hearing, sight, smell, taste, and touch). The spinal cord is made up of bundles of nerve fibers that connect the brain with nerves in most parts of the body. Ependymomas form from ependymal cells that line the ventricles and passageways in the brain and the spinal cord. Ependymal cells make cerebrospinal fluid (CSF). This summary is about the treatment of primary brain tumors (tumors that begin in the brain). Treatment of metastatic brain tumors, which are tumors that begin in other parts of the body and spread to the brain, is not discussed in this summary. There are many different types of brain tumors. Brain tumors can occur in both children and adults. However, treatment for children is different than treatment for adults. See the following PDQ summaries for more information: - Childhood Brain and Spinal Cord Tumors Treatment Overview - Adult Central Nervous System Tumors Treatment There are different types of ependymomas. The World Health Organization (WHO) groups ependymal tumors into five main subtypes: - Subependymoma (WHO Grade I). - Myxopapillary ependymoma (WHO Grade I). - Ependymoma (WHO Grade II). - RELA fusionpositive ependymoma (WHO Grade II or Grade III with change in the RELA gene). - Anaplastic ependymoma (WHO Grade III). The grade of a tumor describes how abnormal the cancer cells look under a microscope and how quickly the tumor is likely to grow and spread. Low-grade (Grade I) cancer cells look more like normal cells than high-grade cancer cells (Grade II and III). They also tend to grow and spread more slowly than Grade II and III cancer cells. The part of the brain that is affected depends on where the ependymoma forms. Ependymomas can form anywhere in the fluid -filled ventricles and passageways in the brain and spinal cord. Most ependymomas form in the fourth ventricle and affect the cerebellum and the brain stem. Once an ependymoma forms, areas of the brain that may be affected include: - 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. - 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 are the stages of Extragonadal Germ Cell Tumors ? Answer:

Key Points - After an extragonadal germ cell tumor 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. - The following prognostic groups are used for extragonadal germ cell tumors: - Good prognosis - Intermediate prognosis - Poor prognosis After an extragonadal germ cell tumor has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body. The extent or spread of cancer is usually described as stages. For extragonadal germ cell tumors, prognostic groups are used instead of stages. The tumors are grouped according to how well the cancer is expected to respond to treatment. It is important to know the prognostic group in order to plan treatment. 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 tumor as the primary tumor. For example, if an extragonadal germ cell tumor spreads to the lung, the tumor cells in the lung are actually cancerous germ cells. The disease is metastatic extragonadal germ cell tumor, not lung cancer. The following prognostic groups are used for extragonadal germ cell tumors: Good prognosis A nonseminoma extragonadal germ cell tumor is in the good prognosis group if: - the tumor is in the back of the abdomen; and - the tumor has not spread to organs other than the lungs; and - the levels of tumor markers AFP and -hCG are normal and LDH is slightly above normal. A seminoma extragonadal germ cell tumor is in the good prognosis group if: - the tumor has not spread to organs other than the lungs; and - the level of AFP is normal; -hCG and LDH may be at any level. Intermediate prognosis A nonseminoma extragonadal germ cell tumor is in the intermediate prognosis group if: - the tumor is in the back of the abdomen; and - the tumor has not spread to organs other than the lungs; and - the level of any one of the tumor markers (AFP, -hCG, or LDH) is more than slightly above normal. A seminoma extragonadal germ cell tumor is in the intermediate prognosis group if: - the tumor has spread to organs other than the lungs; and - the level of AFP is normal; -hCG and LDH may be at any level. Poor prognosis A nonseminoma extragonadal germ cell tumor is in the poor prognosis group if: - the tumor is in the chest; or - the tumor has spread to organs other than the lungs; or - the level of any one of the tumor markers (AFP, -hCG, or LDH) is high. Seminoma extragonadal germ cell tumor does not have a poor prognosis group.

Question: How to diagnose Short Bowel Syndrome ? Answer:

A health care provider diagnoses short bowel syndrome based on - a medical and family history - a physical exam - blood tests - fecal fat tests - an x-ray of the small and large intestines - upper gastrointestinal (GI) series - computerized tomography (CT) scan Medical and Family History Taking a medical and family history may help a health care provider diagnose short bowel syndrome. He or she will ask the patient about symptoms and may request a history of past operations. Physical Exam A physical exam may help diagnose short bowel syndrome. During a physical exam, a health care provider usually - examines a patient's body, looking for muscle wasting or weight loss and signs of vitamin and mineral deficiencies - uses a stethoscope to listen to sounds in the abdomen - taps on specific areas of the patient's body Blood Tests A blood test involves drawing a patient's blood at a health care provider's office or a commercial facility and sending the sample to a lab for analysis. Blood tests can show mineral and vitamin levels and measure complete blood count. Fecal Fat Tests A fecal fat test measures the body's ability to break down and absorb fat. For this test, a patient provides a stool sample at a health care provider's office. The patient may also use a take-home test kit. The patient collects stool in plastic wrap that he or she lays over the toilet seat and places a sample into a container. A patient can also use a special tissue provided by the health care provider's office to collect the sample and place the tissue into the container. For children wearing diapers, the parent or caretaker can line the diaper with plastic to collect the stool. The health care provider will send the sample to a lab for analysis. A fecal fat test can show how well the small intestine is working. X-ray 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 technician performs the x-ray at a hospital or an outpatient center, and a radiologista doctor who specializes in medical imaginginterprets the images. An x-ray of the small intestine can show that the last segment of the large intestine is narrower than normal. Blocked stool causes the part of the intestine just before this narrow segment to stretch and bulge. Upper Gastrointestinal Series Upper GI series, also called a barium swallow, uses x rays and fluoroscopy to help diagnose problems of the upper GI tract. Fluoroscopy is a form of x ray that makes it possible to see the internal organs and their motion on a video monitor. An x-ray technician performs this test at a hospital or an outpatient center, and a radiologist interprets the images. During the procedure, the patient will stand or sit in front of an x-ray machine and drink barium, a chalky liquid. Barium coats the esophagus, stomach, and small intestine so the radiologist and a health care provider can see the shape of these organs more clearly on x-rays. A patient may experience bloating and nausea for a short time after the test. For several days afterward, barium liquid in the GI tract causes white or light-colored stools. A health care provider will give the patient specific instructions about eating and drinking after the test. Upper GI series can show narrowing and widening of the small and large intestines. More information is provided in the NIDDK health topic, Upper GI Series. Computerized Tomography Scan Computerized tomography scans use a combination of x-rays and computer technology to create images. For a CT scan, a health care provider may give the patient a solution to drink and an injection of a special dye, called a contrast medium. CT scans require the patient to lie on a table that slides into a tunnel-shaped device that takes x-rays. An x-ray technician performs the procedure in an outpatient center or a hospital, and a radiologist interprets the images. The patient does not need anesthesia. CT scans can show bowel obstruction and changes in the intestines.

Question: How to diagnose Anemia ? Answer:

Your doctor will diagnose anemia based on your medical and family histories, a physical exam, and results from tests and procedures. Because anemia doesn't always cause symptoms, your doctor may find out you have it while checking for another condition. Medical and Family Histories Your doctor may ask whether you have any of the common signs or symptoms of anemia. He or she also may ask whether you've had an illness or condition that could cause anemia. Let your doctor know about any medicines you take, what you typically eat (your diet), and whether you have family members who have anemia or a history of it. Physical Exam Your doctor will do a physical exam to find out how severe your anemia is and to check for possible causes. He or she may: Listen to your heart for a rapid or irregular heartbeat Listen to your lungs for rapid or uneven breathing Feel your abdomen to check the size of your liver and spleen Your doctor also may do a pelvic or rectal exam to check for common sources of blood loss. Diagnostic Tests and Procedures You may have various blood tests and other tests or procedures to find out what type of anemia you have and how severe it is. Complete Blood Count Often, the first test used to diagnose anemia is a complete blood count (CBC). The CBC measures many parts of your blood. The test checks your hemoglobin and hematocrit (hee-MAT-oh-crit) levels. Hemoglobin is the iron-rich protein in red blood cells that carries oxygen to the body. Hematocrit is a measure of how much space red blood cells take up in your blood. A low level of hemoglobin or hematocrit is a sign of anemia. The normal range of these levels might be lower in certain racial and ethnic populations. Your doctor can explain your test results to you. The CBC also checks the number of red blood cells, white blood cells, and platelets in your blood. Abnormal results might be a sign of anemia, another blood disorder, an infection, or another condition. Finally, the CBC looks at mean corpuscular (kor-PUS-kyu-lar) volume (MCV). MCV is a measure of the average size of your red blood cells and a clue as to the cause of your anemia. In iron-deficiency anemia, for example, red blood cells usually are smaller than normal. Other Tests and Procedures If the CBC results show that you have anemia, you may need other tests, such as: Hemoglobin electrophoresis (e-lek-tro-FOR-e-sis). This test looks at the different types of hemoglobin in your blood. The test can help diagnose the type of anemia you have. A reticulocyte (re-TIK-u-lo-site) count. This test measures the number of young red blood cells in your blood. The test shows whether your bone marrow is making red blood cells at the correct rate. Tests for the level of iron in your blood and body. These tests include serum iron and serum ferritin tests. Transferrin level and total iron-binding capacity tests also measure iron levels. Because anemia has many causes, you also might be tested for conditions such as kidney failure, lead poisoning (in children), and vitamin deficiencies (lack of vitamins, such as B12 and folic acid). If your doctor thinks that you have anemia due to internal bleeding, he or she may suggest several tests to look for the source of the bleeding. A test to check the stool for blood might be done in your doctor's office or at home. Your doctor can give you a kit to help you get a sample at home. He or she will tell you to bring the sample back to the office or send it to a laboratory. If blood is found in the stool, you may have other tests to find the source of the bleeding. One such test is endoscopy (en-DOS-ko-pe). For this test, a tube with a tiny camera is used to view the lining of the digestive tract. Your doctor also may want to do bone marrow tests. These tests show whether your bone marrow is healthy and making enough blood cells.

Question: How to diagnose Kaposi Sarcoma ? Answer:

Tests that examine the skin, lungs, and gastrointestinal tract are used to detect (find) and diagnose Kaposi sarcoma. 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 skin and lymph nodes 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. - 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. This is used to find Kaposi sarcoma in the lungs. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. One of the following types of biopsies may be done to check for Kaposi sarcoma lesions in the skin: - Excisional biopsy : A scalpel is used to remove the entire skin growth. - Incisional biopsy : A scalpel is used to remove part of a skin growth. - Core biopsy : A wide needle is used to remove part of a skin growth. - Fine-needle aspiration (FNA) biopsy : A thin needle is used to remove part of a skin growth. An endoscopy or bronchoscopy may be done to check for Kaposi sarcoma lesions in the gastrointestinal tract or lungs. - Endoscopy for biopsy: 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. An endoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue or lymph node samples, which are checked under a microscope for signs of disease. This is used to find Kaposi sarcoma lesions in the gastrointestinal tract. - Bronchoscopy for biopsy: 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 disease. This is used to find Kaposi sarcoma lesions in the lungs. - After Kaposi sarcoma has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body. The following tests and procedures may be used to find out if cancer has spread to other parts of the body: - 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. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the lung, liver, and spleen, 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. This imaging test checks for signs of cancer in the lung, liver, and spleen. - CD34 lymphocyte count: A procedure in which a blood sample is checked to measure the amount of CD34 cells (a type of white blood cell). A lower than normal amount of CD34 cells can be a sign the immune system is not working well.

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

What are the signs and symptoms of Kleefstra syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kleefstra 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% Cognitive impairment 90% Hypertelorism 90% Intellectual disability 90% Malar flattening 90% Muscular hypotonia 90% Neurological speech impairment 90% Short nose 90% Tented upper lip vermilion 90% Abnormality of the aorta 50% Abnormality of the aortic valve 50% Arrhythmia 50% Autism 50% Brachycephaly 50% Broad forehead 50% Coarse facial features 50% Constipation 50% Delayed speech and language development 50% Hearing impairment 50% Highly arched eyebrow 50% Macroglossia 50% Mandibular prognathia 50% Microcephaly 50% Obesity 50% Otitis media 50% Protruding tongue 50% Sleep disturbance 50% Synophrys 50% Thickened helices 50% Upslanted palpebral fissure 50% U-Shaped upper lip vermilion 50% Ventricular septal defect 50% Aggressive behavior 33% Cryptorchidism 33% Hypospadias 33% Micropenis 33% Recurrent respiratory infections 33% Stereotypic behavior 33% Seizures 30% Abnormality of the pulmonary artery 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Bowel incontinence 7.5% Cerebral cortical atrophy 7.5% Delayed eruption of teeth 7.5% Developmental regression 7.5% Downturned corners of mouth 7.5% Facial asymmetry 7.5% Hernia 7.5% Limitation of joint mobility 7.5% Natal tooth 7.5% Persistence of primary teeth 7.5% Pyloric stenosis 7.5% Renal cyst 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Scoliosis 7.5% Self-injurious behavior 7.5% Short stature 7.5% Supernumerary nipple 7.5% Talipes equinovarus 7.5% Tetralogy of Fallot 7.5% Ventriculomegaly 7.5% Vesicoureteral reflux 7.5% Gastroesophageal reflux 5% Apathy 1% Tracheobronchomalacia 1% Microcephaly 8/22 Hearing impairment 3/22 Autosomal dominant inheritance - Brachydactyly syndrome - Flat face - Hypoplasia of midface - Intellectual disability, severe - Obsessive-compulsive behavior - Single transverse palmar crease - 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) Asbestos-Related Lung Diseases ? Answer:

Asbestos-related lung diseases are diseases caused by exposure to asbestos (as-BES-tos) fibers. Asbestos is a mineral that, in the past, was widely used in many industries. Asbestos is made up of tiny fibers that can escape into the air. When breathed in, these fibers can stay in your lungs for a long time. If the fibers build up in your lungs, they can lead to: Pleural plaque. In this condition, the tissue around the lungs and diaphragm (the muscle below your lungs) thickens and hardens. This tissue is called the pleura. Pleural plaque usually causes no symptoms. Rarely, as the pleura thickens, it can trap and compress part of the lung. This may show up as a mass on an x-ray image. Pleural effusion. In this condition, excess fluid builds up in the pleural space. The pleural space is the area between the lungs and the chest wall. Asbestosis (as-bes-TOE-sis). In this condition, the lung tissue becomes scarred. People who have asbestosis are at greater risk for lung cancer, especially if they smoke. Lung cancer. This type of cancer forms in the lung tissue, usually in the cells lining the air passages. Mesothelioma (MEZ-o-thee-lee-O-ma). This disease is cancer of the pleura. Asbestos also can cause cancer in the lining of the abdominal cavity. This lining is known as the peritoneum (PER-ih-to-NE-um). Asbestos-Related Lung Diseases Overview Until the 1970s, asbestos was widely used in many industries in the United States. For example, it was used to insulate pipes, boilers, and ships; make brakes; strengthen cement; and fireproof many items, such as drywall. People who worked around asbestos during that time are at risk for asbestos-related lung diseases. People at highest risk include: Unprotected workers who made, installed, or removed products containing asbestos. People who worked near others who did these jobs also are at risk. Family members of workers who were exposed to asbestos. Family members may have breathed in asbestos fibers that workers brought home on their clothes, shoes, or bodies. People who live in areas with large deposits of asbestos in the soil. This risk is limited to areas where the deposits were disturbed and asbestos fibers got into the air. Asbestos fibers also can be released into the air when older buildings containing asbestos-made products are destroyed. Removing these products during building renovations also can release asbestos fibers into the air. Generally, being around asbestos-made products isnt a danger as long as the asbestos is enclosed. This prevents the fibers from getting into the air. People in the United States are less likely to have asbestos-related lung diseases now because the mineral is no longer widely used. The use of asbestos is heavily restricted, and rules and standards are now in place to protect workers and others from asbestos exposure. Asbestos is found in only a few new products, such as gaskets used in brakes. However, many countries do not yet restrict asbestos use. People in those countries are still exposed to the mineral. Outlook The outlook for people who have asbestos-related lung diseases can vary. It will depend on which disease a person has and how much it has damaged the lungs. No treatments can reverse the effects of asbestos on your lungs. However, treatments may help relieve symptoms, slow the progress of the disease, and prevent complications. If you've been exposed to asbestos, let your doctor know. He or she can watch you for signs of asbestos-related problems and start treatment early, if needed. Early treatment may help prevent or delay complications. Quitting smoking and making other lifestyle changes may help people who are at high risk for asbestos-related lung diseases. These lifestyle changes may prevent more serious diseases, such as cancer.

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

What are the signs and symptoms of Ehlers-Danlos syndrome, kyphoscoliosis type? The signs and symptoms of Ehlers-Danlos syndrome (EDS), kyphoscoliosis type vary but may include: Hyperextensible skin that is fragile and bruises easily Joint hypermobility that leads to frequent dislocations and subluxations (partial dislocations) Severe hypotonia at birth Progressive kyphoscoliosis (kyphosis and scoliosis), present at birth or within the first year of life Scleral fragility Abnormal wound healing "Marfanoid habitus" which is characterized by long, slender fingers (arachnodactyly); unusually long limbs; and a sunken chest (pectus excavatum) or protruding chest (pectus carinatum) Fragile arteries that are prone to rupture Delayed motor development Unusually small cornia Osteopenia (low bone density) Congenital clubfoot Cardiovascular abnormalities such as mitral valve prolapse or aortic root dilatation (enlargement of the blood vessel that distributes blood from the heart to the rest of the body) The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome, kyphoscoliosis type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Abnormality of the mitral valve 90% Aortic dissection 90% Arterial dissection 90% Atypical scarring of skin 90% Gait disturbance 90% Joint dislocation 90% Joint hypermobility 90% Kyphosis 90% Muscular hypotonia 90% Myopia 90% Scoliosis 90% Abnormality of coagulation 50% Abnormality of the hip bone 50% Decreased corneal thickness 50% Glaucoma 50% Hernia of the abdominal wall 50% Hyperextensible skin 50% Microcornea 50% Retinal detachment 50% Retinopathy 50% Subcutaneous hemorrhage 50% Visual impairment 50% Corneal dystrophy 7.5% Talipes 7.5% Arachnodactyly - Autosomal recessive inheritance - Bladder diverticulum - Blindness - Blue sclerae - Bruising susceptibility - Congestive heart failure - Decreased fetal movement - Decreased pulmonary function - Dental crowding - Depressed nasal bridge - Disproportionate tall stature - Epicanthus - Gastrointestinal hemorrhage - Inguinal hernia - Joint laxity - Keratoconus - Molluscoid pseudotumors - Motor delay - Osteoporosis - Palmoplantar cutis laxa - Pes planus - Premature rupture of membranes - Progressive congenital scoliosis - Recurrent pneumonia - Respiratory insufficiency - Soft skin - Talipes equinovarus - Tall stature - Thin 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 Metastatic Squamous Neck Cancer with Occult Primary ? Answer:

Tests that examine the tissues of the neck, respiratory tract, and upper part of the digestive tract are used to detect (find) and diagnose metastatic squamous neck cancer and the primary tumor. Tests will include checking for a primary tumor in the organs and tissues of the respiratory tract (part of the trachea), the upper part of the digestive tract (including the lips, mouth, tongue, nose, throat, vocal cords, and part of the esophagus), and the genitourinary system. The following procedures may be used: - Physical exam and history : An exam of the body, especially the head and neck, to check general signs of health. This includes 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. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist or tested in the laboratory to check for signs of cancer. Three types of biopsy may be done: - Fine-needle aspiration (FNA) biopsy : The removal of tissue or fluid using a thin needle. - Core needle biopsy : The removal of tissue using a wide needle. - Excisional biopsy : The removal of an entire lump of tissue. The following procedures are used to remove samples of cells or tissue: - Tonsillectomy: Surgery to remove both tonsils. - 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, voice box, windpipe, and large airways will be checked. One or more of the following laboratory tests may be done to study the tissue samples: - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of blood or bone marrow. 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. - Light and electron microscopy : A 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. - Epstein-Barr virus (EBV) and human papillomavirus (HPV) test: A test that checks the cells in a sample of tissue for EBV and HPV DNA. - 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. A whole body PET scan and a CT scan are done at the same time to look for where the cancer first formed. If there is any cancer, this increases the chance that it will be found. A diagnosis of occult primary tumor is made if the primary tumor is not found during testing or treatment.

Question: What are the genetic changes related to nonsyndromic hearing loss ? Answer:

The causes of nonsyndromic hearing loss are complex. Researchers have identified more than 90 genes that, when altered, are associated with nonsyndromic hearing loss. Many of these genes are involved in the development and function of the inner ear. Mutations in these genes contribute to hearing loss by interfering with critical steps in processing sound. Different mutations in the same gene can be associated with different types of hearing loss, and some genes are associated with both syndromic and nonsyndromic forms. In many affected families, the factors contributing to hearing loss have not been identified. Most cases of nonsyndromic hearing loss are inherited in an autosomal recessive pattern. About half of all severe-to-profound autosomal recessive nonsyndromic hearing loss results from mutations in the GJB2 gene; these cases are designated DFNB1. The GJB2 gene provides instructions for making a protein called connexin 26, which is a member of the connexin protein family. Mutations in another connexin gene, GJB6, can also cause DFNB1. The GJB6 gene provides instructions for making a protein called connexin 30. Connexin proteins form channels called gap junctions, which allow communication between neighboring cells, including cells in the inner ear. Mutations in the GJB2 or GJB6 gene alter their respective connexin proteins, which changes the structure of gap junctions and may affect the function or survival of cells that are needed for hearing. The most common cause of moderate autosomal recessive nonsyndromic hearing loss is mutations in the STRC gene. These mutations cause a form of the condition known as DFNB16. Mutations in more than 60 other genes can also cause autosomal recessive nonsyndromic hearing loss. Many of these gene mutations have been found in one or a few families. Nonsyndromic hearing loss can also be inherited in an autosomal dominant pattern. Mutations in at least 30 genes have been identified in people with autosomal dominant nonsyndromic hearing loss; mutations in some of these genes (including GJB2 and GJB6) can also cause autosomal recessive forms of the condition. Although no single gene is associated with a majority of autosomal dominant nonsyndromic hearing loss cases, mutations in a few genes, such as KCNQ4 and TECTA, are relatively common. Mutations in many of the other genes associated with autosomal dominant nonsyndromic hearing loss have been found in only one or a few families. X-linked and mitochondrial forms of nonsyndromic hearing loss are rare. About half of all X-linked cases are caused by mutations in the POU3F4 gene. This form of the condition is designated DFNX2. Mutations in at least three other genes have also been identified in people with X-linked nonsyndromic hearing loss. Mitochondrial forms of hearing loss result from changes in mitochondrial DNA (mtDNA). Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA. Only a few mutations in mtDNA have been associated with hearing loss, and their role in the condition is still being studied. Mutations in some of the genes associated with nonsyndromic hearing loss can also cause syndromic forms of hearing loss, such as Usher syndrome (CDH23 and MYO7A, among others), Pendred syndrome (SLC26A4), Wolfram syndrome (WFS1), and Stickler syndrome (COL11A2). It is often unclear how mutations in the same gene can cause isolated hearing loss in some individuals and hearing loss with additional signs and symptoms in others. In addition to genetic changes, hearing loss can result from environmental factors or a combination of genetic risk and a person's environmental exposures. Environmental causes of hearing loss include certain medications, specific infections before or after birth, and exposure to loud noise over an extended period. Age is also a major risk factor for hearing loss. Age-related hearing loss (presbyacusis) is thought to have both genetic and environmental influences.

Question: What are the symptoms of Lenz Majewski hyperostotic dwarfism ? Answer:

What are the signs and symptoms of Lenz Majewski hyperostotic dwarfism? The Human Phenotype Ontology provides the following list of signs and symptoms for Lenz Majewski hyperostotic dwarfism. 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 dental enamel 90% Abnormality of the clavicle 90% Abnormality of the fontanelles or cranial sutures 90% Abnormality of the metaphyses 90% Abnormality of the ribs 90% Brachydactyly syndrome 90% Broad forehead 90% Choanal atresia 90% Cognitive impairment 90% Craniofacial hyperostosis 90% Cutis laxa 90% Delayed skeletal maturation 90% Finger syndactyly 90% Hypertelorism 90% Increased bone mineral density 90% Joint hypermobility 90% Macrocephaly 90% Macrotia 90% Mandibular prognathia 90% Prematurely aged appearance 90% Short stature 90% Symphalangism affecting the phalanges of the hand 90% Abnormality of the metacarpal bones 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Hernia of the abdominal wall 50% Humeroradial synostosis 50% Lacrimation abnormality 50% Thick lower lip vermilion 50% Wide mouth 50% Abnormality of the fingernails 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cleft palate 7.5% Facial palsy 7.5% Hydrocephalus 7.5% Kyphosis 7.5% Limitation of joint mobility 7.5% Muscular hypotonia 7.5% Scoliosis 7.5% Microcephaly 5% Abnormality of the teeth - Agenesis of corpus callosum - Anteriorly placed anus - Aplasia/Hypoplasia of the middle phalanges of the hand - Autosomal dominant inheritance - Broad clavicles - Broad ribs - Choanal stenosis - Chordee - Cutis marmorata - Delayed cranial suture closure - Diaphyseal thickening - Elbow flexion contracture - Failure to thrive - Flared metaphysis - Frontal bossing - Hyperextensibility of the finger joints - Hypospadias - Inguinal hernia - Intellectual disability - Intellectual disability, moderate - Intrauterine growth retardation - Knee flexion contracture - Lacrimal duct stenosis - Large fontanelles - Microglossia - Progressive sclerosis of skull base - Prominent forehead - Prominent scalp veins - Proximal symphalangism (hands) - Relative macrocephaly - Sensorineural hearing impairment - Sparse hair - Sporadic - Syndactyly - Thin 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 causes Pernicious Anemia ? Answer:

Pernicious anemia is caused by a lack of intrinsic factor or other causes, such as infections, surgery, medicines, or diet. Lack of Intrinsic Factor Intrinsic factor is a protein made in the stomach. It helps your body absorb vitamin B12. In some people, an autoimmune response causes a lack of intrinsic factor. An autoimmune response occurs if the bodys immune system makes antibodies (proteins) that mistakenly attack and damage the body's tissues or cells. In pernicious anemia, the body makes antibodies that attack and destroy the parietal (pa-RI-eh-tal) cells. These cells line the stomach and make intrinsic factor. Why this autoimmune response occurs isn't known. As a result of this attack, the stomach stops making intrinsic factor. Without intrinsic factor, your body can't move vitamin B12 through the small intestine, where it's absorbed. This leads to vitamin B12 deficiency. A lack of intrinsic factor also can occur if you've had part or all of your stomach surgically removed. This type of surgery reduces the number of parietal cells available to make intrinsic factor. Rarely, children are born with an inherited disorder that prevents their bodies from making intrinsic factor. This disorder is called congenital pernicious anemia. Other Causes Pernicious anemia also has other causes, besides a lack of intrinsic factor. Malabsorption in the small intestine and a diet lacking vitamin B12 both can lead to pernicious anemia. Malabsorption in the Small Intestine Sometimes pernicious anemia occurs because the body's small intestine can't properly absorb vitamin B12. This may be the result of: Too many of the wrong kind of bacteria in the small intestine. This is a common cause of pernicious anemia in older adults. The bacteria use up the available vitamin B12 before the small intestine can absorb it. Diseases that interfere with vitamin B12 absorption. One example is celiac disease. This is a genetic disorder in which your body can't tolerate a protein called gluten. Another example is Crohn's disease, an inflammatory bowel disease. HIV also may interfere with vitamin B12 absorption. Certain medicines that alter bacterial growth or prevent the small intestine from properly absorbing vitamin B12. Examples include antibiotics and certain diabetes and seizure medicines. Surgical removal of part or all of the small intestine. A tapeworm infection. The tapeworm feeds off of the vitamin B12. Eating undercooked, infected fish may cause this type of infection. Diet Lacking Vitamin B12 Some people get pernicious anemia because they don't have enough vitamin B12 in their diets. This cause of pernicious anemia is less common than other causes. Good food sources of vitamin B12 include: Breakfast cereals with added vitamin B12 Meats such as beef, liver, poultry, and fish Eggs and dairy products (such as milk, yogurt, and cheese) Foods fortified with vitamin B12, such as soy-based beverages and vegetarian burgers Strict vegetarians who don't eat any animal or dairy products and don't take a vitamin B12 supplement are at risk for pernicious anemia. Breastfed infants of strict vegetarian mothers also are at risk for pernicious anemia. These infants can develop anemia within months of being born. This is because they haven't had enough time to store vitamin B12 in their bodies. Doctors treat these infants with vitamin B12 supplements. Other groups, such as the elderly and people who suffer from alcoholism, also may be at risk for pernicious anemia. These people may not get the proper nutrients in their diets.

Question: What is (are) Sleep Deprivation and Deficiency ? Answer:

Sleep deprivation (DEP-rih-VA-shun) is a condition that occurs if you don't get enough sleep. Sleep deficiency is a broader concept. It occurs if you have one or more of the following: You don't get enough sleep (sleep deprivation) You sleep at the wrong time of day (that is, you're out of sync with your body's natural clock) You don't sleep well or get all of the different types of sleep that your body needs You have a sleep disorder that prevents you from getting enough sleep or causes poor quality sleep This article focuses on sleep deficiency, unless otherwise noted. Sleeping is a basic human need, like eating, drinking, and breathing. Like these other needs, sleeping is a vital part of the foundation for good health and well-being throughout your lifetime. Sleep deficiency can lead to physical and mental health problems, injuries, loss of productivity, and even a greater risk of death. Overview To understand sleep deficiency, it helps to understand how sleep works and why it's important. The two basic types of sleep are rapid eye movement (REM) and non-REM. Non-REM sleep includes what is commonly known as deep sleep or slow wave sleep. Dreaming typically occurs during REM sleep. Generally, non-REM and REM sleep occur in a regular pattern of 35 cycles each night. Your ability to function and feel well while you're awake depends on whether you're getting enough total sleep and enough of each type of sleep. It also depends on whether you're sleeping at a time when your body is prepared and ready to sleep. You have an internal "body clock" that controls when you're awake and when your body is ready for sleep. This clock typically follows a 24-hour repeating rhythm (called the circadian rhythm). The rhythm affects every cell, tissue, and organ in your body and how they work. (For more information, go to "What Makes You Sleep?") If you aren't getting enough sleep, are sleeping at the wrong times, or have poor quality sleep, you'll likely feel very tired during the day. You may not feel refreshed and alert when you wake up. Sleep deficiency can interfere with work, school, driving, and social functioning. You might have trouble learning, focusing, and reacting. Also, you might find it hard to judge other people's emotions and reactions. Sleep deficiency also can make you feel frustrated, cranky, or worried in social situations. The signs and symptoms of sleep deficiency may differ between children and adults. Children who are sleep deficient might be overly active and have problems paying attention. They also might misbehave, and their school performance can suffer. Outlook Sleep deficiency is a common public health problem in the United States. People in all age groups report not getting enough sleep. As part of a health survey for the Centers for Disease Control and Prevention, about 719 percent of adults in the United States reported not getting enough rest or sleep every day. Nearly 40 percent of adults report falling asleep during the day without meaning to at least once a month. Also, an estimated 50 to 70 million Americans have chronic (ongoing) sleep disorders. Sleep deficiency is linked to many chronic health problems, including heart disease, kidney disease, high blood pressure, diabetes, stroke, obesity, and depression. Sleep deficiency also is associated with an increased risk of injury in adults, teens, and children. For example, driver sleepiness (not related to alcohol) is responsible for serious car crash injuries and death. In the elderly, sleep deficiency might be linked to an increased risk of falls and broken bones. In addition, sleep deficiency has played a role in human errors linked to tragic accidents, such as nuclear reactor meltdowns, grounding of large ships, and aviation accidents. A common myth is that people can learn to get by on little sleep with no negative effects. However, research shows that getting enough quality sleep at the right times is vital for mental health, physical health, quality of life, and safety.

Question: What are the symptoms of Friedreich ataxia ? Answer:

What are the signs and symptoms of Friedreich ataxia? Symptoms usually begin between the ages of 5 and 15 but can, on occasion, appear in adulthood or even as late as age 75. The first symptom to appear is usually difficulty in walking, or gait ataxia. The ataxia gradually worsens and slowly spreads to the arms and then the trunk. Over time, muscles begin to weaken and waste away, especially in the feet, lower legs, and hands, and deformities develop. Other symptoms include loss of tendon reflexes, especially in the knees and ankles. There is often a gradual loss of sensation in the extremities, which may spread to other parts of the body. Dysarthria (slowness and slurring of speech) develops, and the person is easily fatigued. Rapid, rhythmic, involuntary movements of the eye (nystagmus) are common. Most people with Friedreich's ataxia develop scoliosis (a curving of the spine to one side), which, if severe, may impair breathing. Other symptoms that may occur include chest pain, shortness of breath, and heart palpitations. These symptoms are the result of various forms of heart disease that often accompany Friedreich ataxia, such as cardiomyopathy (enlargement of the heart), myocardial fibrosis (formation of fiber-like material in the muscles of the heart), and cardiac failure. Heart rhythm abnormalities such as tachycardia (fast heart rate) and heart block (impaired conduction of cardiac impulses within the heart) are also common. About 20 percent of people with Friedreich ataxia develop carbohydrate intolerance and 10 percent develop diabetes mellitus. Some people lose hearing or eyesight. The rate of progression varies from person to person. Generally, within 10 to 20 years after the appearance of the first symptoms, the person is confined to a wheelchair, and in later stages of the disease individuals become completely incapacitated. Life expectancy may be affected, and many people with Friedreich ataxia die in adulthood from the associated heart disease, the most common cause of death. However, some people with less severe symptoms of Friedreich ataxia live much longer, sometimes into their sixties or seventies. The Human Phenotype Ontology provides the following list of signs and symptoms for Friedreich ataxia. 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) Reduced visual acuity 5% Visual impairment 5% Abnormal echocardiogram - Abnormal EKG - Abnormality of visual evoked potentials - Areflexia of lower limbs - Autosomal recessive inheritance - Babinski sign - Congestive heart failure - Decreased amplitude of sensory action potentials - Decreased pyruvate carboxylase activity - Decreased sensory nerve conduction velocity - Diabetes mellitus - Dysarthria - Gait ataxia - Hypertrophic cardiomyopathy - Impaired proprioception - Juvenile onset - Limb ataxia - Mitochondrial malic enzyme reduced - Nystagmus - Optic atrophy - Pes cavus - Scoliosis - Sensory neuropathy - Visual field defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

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

What are the signs and symptoms of Acromesomelic dysplasia? Affected infants often have a normal birth weight. In most cases, in addition to having unusually short, broad hands and feet, affected infants often have characteristic facial abnormalities that are apparent at birth. Such features may include a relatively enlarged head, unusually prominent forehead, pronounced back portion of the head (occipital prominence), a slightly flattened midface, and/or an abnormally small, pug nose. During the first years of life, as the forearms, lower legs, hands, and feet do not grow proportionally with the rest of the body, short stature (short-limb dwarfism) begins to become apparent. Over time, affected individuals may be unable to fully extend the arms, rotate the arms inward toward the body with the palms facing down, or rotate the arms outward with the palms facing upward. In some cases, affected individuals may also experience progressive degeneration, stiffness, tenderness, and pain of the elbows (osteoarthritis). Abnormalities of cartilage and bone development may also cause the bones within the fingers, toes, hands, and feet to become increasingly shorter and broader during the first years of life. During the second year of life, the growing ends of these bones may begin to appear abnormally shaped like a cone or a square and may fuse prematurely. This causes the fingers and toes to appear short and stubby. The hands and feet may seem unusually short, broad, and square; and the feet may appear abnormally flat. In early childhood, extra, loose skin may also develop over the fingers. During early childhood, affected individuals may also begin to experience progressive, abnormal curvature of the spine. In rare cases, affected individuals can experience delayed puberty and corneal clouding. The Human Phenotype Ontology provides the following list of signs and symptoms for Acromesomelic 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 form of the vertebral bodies 50% Bowing of the long bones 50% Brachydactyly syndrome 50% Depressed nasal bridge 50% Dolichocephaly 50% Frontal bossing 50% Hyperlordosis 50% Joint hypermobility 50% Kyphosis 50% Limitation of joint mobility 50% Micromelia 50% Scoliosis 50% Short stature 50% Sprengel anomaly 50% Acromesomelia - Autosomal recessive inheritance - Beaking of vertebral bodies - Broad finger - Broad metacarpals - Broad metatarsal - Broad phalanx - Cone-shaped epiphyses of the phalanges of the hand - Disproportionate short stature - Flared metaphysis - Hypoplasia of the radius - Joint laxity - Limited elbow extension - Long hallux - Lower thoracic kyphosis - Lumbar hyperlordosis - Ovoid vertebral bodies - Prominent forehead - Radial bowing - Redundant skin on fingers - Short metacarpal - Short metatarsal - Short nail - Short nose - Thoracolumbar interpediculate narrowness - Thoracolumbar kyphosis - 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 Chromosome 3p- syndrome ? Answer:

What are the signs and symptoms of Chromosome 3p- syndrome? The signs and symptoms of chromosome 3p- syndrome and the severity of the condition depend on the exact size and location of the deletion and which genes are involved. Some affected people appear to have no features or mild features, while others are more severely affected. Common symptoms shared by many people with this condition include: Growth problems both before and after birth Feeding difficulties Developmental delay Poor muscle tone (hypotonia) Intellectual disability Ptosis Distinctive facial features Microcephaly and/or unusual head shape Autism spectrum disorder Other features that may be seen include cleft palate; extra fingers and/or toes; gastrointestinal abnormalities; seizures; hearing impairment; kidney problems; and/or congenital heart defects. To read more about some of the signs and symptoms reported in people with 3p deletion syndrome, you can read Unique's disorder guide entitled '3p25 deletions.' The information in this guide is drawn partly from the published medical literature, and partly from Unique's database of members with a 3p deletion. The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 3p- 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) Cognitive impairment 90% Hypertelorism 90% Long philtrum 90% Ptosis 90% Short stature 90% Telecanthus 90% Abnormality of calvarial morphology 50% Cleft palate 50% Complete atrioventricular canal defect 50% Cryptorchidism 50% Downturned corners of mouth 50% Epicanthus 50% Hearing impairment 50% Intrauterine growth retardation 50% Low-set, posteriorly rotated ears 50% Microcephaly 50% Muscular hypotonia 50% Postaxial hand polydactyly 50% Abnormality of periauricular region 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Blepharophimosis 7.5% Clinodactyly of the 5th finger 7.5% Hypertonia 7.5% Sacral dimple 7.5% Seizures 7.5% Short neck 7.5% Thin vermilion border 7.5% Triangular face 7.5% Umbilical hernia 7.5% Ventriculomegaly 7.5% Abnormal renal morphology 5% Atrioventricular canal defect 5% Macular hypoplasia 5% Prominent nasal bridge 5% Autosomal dominant inheritance - Brachycephaly - Depressed nasal bridge - Feeding difficulties - Flat occiput - High palate - Low-set ears - Periorbital fullness - Postaxial polydactyly - Postnatal growth retardation - Preauricular pit - Prominent metopic ridge - Retrognathia - Spasticity - Synophrys - Trigonocephaly - Upslanted palpebral fissure - 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 Childhood Craniopharyngioma ? Answer:

Tests that examine the brain, vision, and hormone levels are used to detect (find) childhood craniopharyngiomas. 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. - 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. - Visual field exam: An exam to check a persons field of vision (the total area in which objects can be seen). This test measures both central vision (how much a person can see when looking straight ahead) and peripheral vision (how much a person can see in all other directions while staring straight ahead). Any loss of vision may be a sign of a tumor that has damaged or pressed on the parts of the brain that affect eyesight. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging) of the brain and spinal cord with gadolinium : A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the brain. A substance called gadolinium is injected into a vein. The gadolinium collects around the tumor cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). - 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. - Blood hormone studies: A procedure in which a blood sample is checked to measure the amounts of certain hormones 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 in the organ or tissue that makes it. For example, the blood may be checked for unusual levels of thyroid-stimulating hormone (TSH) or adrenocorticotropic hormone (ACTH). TSH and ACTH are made by the pituitary gland in the brain. Childhood craniopharyngiomas are diagnosed and may be removed in the same surgery. Doctors may think a mass is a craniopharyngioma based on where it is in the brain and how it looks on a CT scan or MRI. In order to be sure, a sample of tissue is needed. One of the following types of biopsy procedures may be used to take the sample of tissue: - Open biopsy: A hollow needle is inserted through a hole in the skull into the brain. - Computer-guided needle biopsy: A hollow needle guided by a computer is inserted through a small hole in the skull into the brain. - Transsphenoidal biopsy: Instruments are inserted through the nose and sphenoid bone (a butterfly-shaped bone at the base of the skull) and into the brain. A pathologist views the tissue under a microscope to look for tumor cells. If tumor cells are found, as much tumor as safely possible may be removed during the same surgery. The following laboratory test may be done on the sample of tissue that is removed: - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer.

Question: What are the symptoms of Diabetic Heart Disease ? Answer:

Some people who have diabetic heart disease (DHD) may have no signs or symptoms of heart disease. This is called silent heart disease. Diabetes-related nerve damage that blunts heart pain may explain why symptoms aren't noticed. Thus, people who have diabetes should have regular medical checkups. Tests may reveal a problem before they're aware of it. Early treatment can reduce or delay related problems. Some people who have DHD will have some or all of the typical symptoms of heart disease. Be aware of the symptoms described below and seek medical care if you have them. If you think you're having a heart attack, call 911 right away for emergency care. Treatment for a heart attack works best when it's given right after symptoms occur. Coronary Heart Disease A common symptom of coronary heart disease (CHD) is angina. Angina is chest pain or discomfort that occurs if your heart muscle doesn't get enough oxygen-rich blood. Angina may feel like pressure or squeezing in your chest. You also may feel it in your shoulders, arms, neck, jaw, or back. Angina pain may even feel like indigestion. The pain tends to get worse with activity and go away with rest. Emotional stress also can trigger the pain. See your doctor if you think you have angina. He or she may recommend tests to check your coronary arteries and to see whether you have CHD risk factors. Other CHD signs and symptoms include nausea (feeling sick to your stomach), fatigue (tiredness), shortness of breath, sweating, light-headedness, and weakness. Some people don't realize they have CHD until they have a heart attack. A heart attack occurs if a blood clot forms in a coronary artery and blocks blood flow to part of the heart muscle. The most common heart attack symptom is chest pain or discomfort. Most heart attacks involve discomfort in the center or left side of the chest that often lasts for more than a few minutes or goes away and comes back. The discomfort can feel like uncomfortable pressure, squeezing, fullness, or pain. The feeling can be mild or severe. Heart attack pain sometimes feels like indigestion or heartburn. Shortness of breath may occur with or before chest discomfort. Heart attacks also can cause upper body discomfort in one or both arms, the back, neck, jaw, or upper part of the stomach. Other heart attack symptoms include nausea, vomiting, light-headedness or sudden dizziness, breaking out in a cold sweat, sleep problems, fatigue, and lack of energy. Some heart attack symptoms are similar to angina symptoms. Angina pain usually lasts for only a few minutes and goes away with rest. Chest pain or discomfort that doesn't go away or changes from its usual pattern (for example, occurs more often or while you're resting) can be a sign of a heart attack. If you don't know whether your chest pain is angina or a heart attack, call 911 right away for emergency care. Not everyone who has a heart attack has typical symptoms. If you've already had a heart attack, your symptoms may not be the same for another one. Also, diabetes-related nerve damage can interfere with pain signals in the body. As a result, some people who have diabetes may have heart attacks without symptoms. Heart Failure The most common symptoms of heart failure are shortness of breath or trouble breathing, fatigue, and swelling in the ankles, feet, legs, abdomen, and veins in your neck. As the heart weakens, heart failure symptoms worsen. People who have heart failure can live longer and more active lives if the condition is diagnosed early and they follow their treatment plans. If you have any form of DHD, talk with your doctor about your risk of heart failure. Diabetic Cardiomyopathy Diabetic cardiomyopathy may not cause symptoms in its early stages. Later, you may have weakness, shortness of breath, a severe cough, fatigue, and swelling of the legs and feet.

Question: What causes Anemia ? Answer:

The three main causes of anemia are: Blood loss Lack of red blood cell production High rates of red blood cell destruction For some people, the condition is caused by more than one of these factors. Blood Loss Blood loss is the most common cause of anemia, especially iron-deficiency anemia. Blood loss can be short term or persist over time. Heavy menstrual periods or bleeding in the digestive or urinary tract can cause blood loss. Surgery, trauma, or cancer also can cause blood loss. If a lot of blood is lost, the body may lose enough red blood cells to cause anemia. Lack of Red Blood Cell Production Both acquired and inherited conditions and factors can prevent your body from making enough red blood cells. "Acquired" means you aren't born with the condition, but you develop it. "Inherited" means your parents passed the gene for the condition on to you. Acquired conditions and factors that can lead to anemia include poor diet, abnormal hormone levels, some chronic (ongoing) diseases, and pregnancy. Aplastic anemia also can prevent your body from making enough red blood cells. This condition can be acquired or inherited. Diet A diet that lacks iron, folic acid (folate), or vitamin B12 can prevent your body from making enough red blood cells. Your body also needs small amounts of vitamin C, riboflavin, and copper to make red blood cells. Conditions that make it hard for your body to absorb nutrients also can prevent your body from making enough red blood cells. Hormones Your body needs the hormone erythropoietin (eh-rith-ro-POY-eh-tin) to make red blood cells. This hormone stimulates the bone marrow to make these cells. A low level of this hormone can lead to anemia. Diseases and Disease Treatments Chronic diseases, like kidney disease and cancer, can make it hard for your body to make enough red blood cells. Some cancer treatments may damage the bone marrow or damage the red blood cells' ability to carry oxygen. If the bone marrow is damaged, it can't make red blood cells fast enough to replace the ones that die or are destroyed. People who have HIV/AIDS may develop anemia due to infections or medicines used to treat their diseases. Pregnancy Anemia can occur during pregnancy due to low levels of iron and folic acid and changes in the blood. During the first 6 months of pregnancy, the fluid portion of a woman's blood (the plasma) increases faster than the number of red blood cells. This dilutes the blood and can lead to anemia. Aplastic Anemia Some infants are born without the ability to make enough red blood cells. This condition is called aplastic anemia. Infants and children who have aplastic anemia often need blood transfusions to increase the number of red blood cells in their blood. Acquired conditions or factors, such as certain medicines, toxins, and infectious diseases, also can cause aplastic anemia. High Rates of Red Blood Cell Destruction Both acquired and inherited conditions and factors can cause your body to destroy too many red blood cells. One example of an acquired condition is an enlarged or diseased spleen. The spleen is an organ that removes wornout red blood cells from the body. If the spleen is enlarged or diseased, it may remove more red blood cells than normal, causing anemia. Examples of inherited conditions that can cause your body to destroy too many red blood cells include sickle cell anemia, thalassemias, and lack of certain enzymes. These conditions create defects in the red blood cells that cause them to die faster than healthy red blood cells. Hemolytic anemia is another example of a condition in which your body destroys too many red blood cells. Inherited or acquired conditions or factors can cause hemolytic anemia. Examples include immune disorders, infections, certain medicines, or reactions to blood transfusions.

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

What are the signs and symptoms of Poland syndrome? Signs and symptoms of Poland syndrome may be slight to severe. Some people with Poland syndrome have only absence of the breast tissue, while others may be missing all or part of the chest muscle and underlying ribs. Symptoms tend to occur on one side of the body. Below we have listed symptoms that can be found in this condition: Absence of some of the chest muscles. The end of the main chest muscle, where it attaches to the breastbone, is usually missing. The nipple, including the darkened area around it (areola) is underdeveloped or missing; in females, this may extend to the breast and underlying tissues. Abnormally short and slightly webbed fingers. Often, the armpit (axillary) hair is missing. The skin in the area is underdeveloped (hypoplastic) with a thinned subcutaneous fat layer. The upper rib cage can be underdeveloped or missing, Sometimes the shoulder blade or bones of the arm are also involved, Rarely, spine or kidney problems are present. The Human Phenotype Ontology provides the following list of signs and symptoms for Poland 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 of the pectoralis major muscle 90% Aplasia/Hypoplasia of the nipples 90% Asymmetry of the thorax 90% Breast aplasia 90% Brachydactyly syndrome 50% Finger syndactyly 50% Split hand 50% Abnormal dermatoglyphics 7.5% Abnormality of the humerus 7.5% Abnormality of the liver 7.5% Abnormality of the lower limb 7.5% Abnormality of the ribs 7.5% Abnormality of the sternum 7.5% Abnormality of the ulna 7.5% Absent hand 7.5% Acute leukemia 7.5% Aplasia/Hypoplasia of the radius 7.5% Aplasia/Hypoplasia of the thumb 7.5% Cone-shaped epiphysis 7.5% Congenital diaphragmatic hernia 7.5% Low posterior hairline 7.5% Microcephaly 7.5% Neoplasm of the breast 7.5% Reduced bone mineral density 7.5% Renal hypoplasia/aplasia 7.5% Retinal hamartoma 7.5% Scoliosis 7.5% Short neck 7.5% Situs inversus totalis 7.5% Abnormality of the breast - Absence of pectoralis minor muscle - Autosomal dominant inheritance - Dextrocardia - Hemivertebrae - Hypoplasia of deltoid muscle - Hypoplasia of latissimus dorsi muscle - Hypoplasia of serratus anterior muscle - Rib fusion - Short ribs - Sprengel anomaly - Syndactyly - Unilateral absence of pectoralis major muscle - Unilateral brachydactyly - Unilateral hypoplasia of pectoralis major muscle - Unilateral oligodactyly - 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 Ankylosing spondylitis ? Answer:

What are the signs and symptoms of Ankylosing spondylitis? Ankylosing spondylitis (AS) primarily affects the spine, but may affect other parts of the body too. Signs and symptoms usually begin in adolescence or early adulthood and include back pain and stiffness. Back movement gradually becomes more limited over time as the vertebrae fuse together. Many affected people have mild back pain that comes and goes; others have severe, chronic pain. In very severe cases, the rib cage may become stiffened, making it difficult to breathe deeply. In some people, the condition involves other areas of the body, such as the shoulders, hips, knees, and/or the small joints of the hands and feet. It may affect various places where tendons and ligaments attach to the bones. Sometimes it can affect other organs including the eyes, and very rarely, the heart and lungs. Episodes of eye inflammation may cause eye pain and increased sensitivity to light (photophobia). Neurological complications of AS may include an inability to control urination and bowel movements (incontinence), and the absence of normal reflexes in the ankles due to pressure on the lower portion of the spinal cord (cauda equina). The Human Phenotype Ontology provides the following list of signs and symptoms for Ankylosing spondylitis. 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 oral cavity 90% Abnormality of the sacroiliac joint 90% Arthralgia 90% Arthritis 90% Diarrhea 90% Enthesitis 90% Inflammatory abnormality of the eye 90% Joint swelling 90% Spinal rigidity 90% Abnormality of the thorax 50% Myalgia 50% Respiratory insufficiency 50% Abdominal pain 7.5% Abnormal tendon morphology 7.5% Abnormality of temperature regulation 7.5% Abnormality of the aortic valve 7.5% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Anorexia 7.5% Arrhythmia 7.5% Autoimmunity 7.5% Cartilage destruction 7.5% Hematuria 7.5% Hemiplegia/hemiparesis 7.5% Hyperkeratosis 7.5% Nephrolithiasis 7.5% Nephropathy 7.5% Nephrotic syndrome 7.5% Osteomyelitis 7.5% Proteinuria 7.5% Pulmonary fibrosis 7.5% Pustule 7.5% Recurrent fractures 7.5% Recurrent urinary tract infections 7.5% Renal insufficiency 7.5% Skin rash 7.5% Skin ulcer 7.5% Anterior uveitis - Aortic regurgitation - Back pain - Hip osteoarthritis - Inflammation of the large intestine - Kyphosis - Multifactorial inheritance - Psoriasis - 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 Irritable Bowel Syndrome in Children ? Answer:

To diagnose IBS, a health care provider will conduct a physical exam and take a complete medical history. The medical history will include questions about the childs symptoms, family members with GI disorders, recent infections, medications, and stressful events related to the onset of symptoms. IBS is diagnosed when the physical exam does not show any cause for the childs symptoms and the child meets all of the following criteria: - has had symptoms at least once per week for at least 2 months - is growing as expected - is not showing any signs that suggest another cause for the symptoms Further testing is not usually needed, though the health care provider may do a blood test to screen for other problems. Additional diagnostic tests may be needed based on the results of the screening blood test and for children who also have signs such as - persistent pain in the upper right or lower right area of the abdomen - joint pain - pain that wakes them from sleep - disease in the tissues around the rectum - difficulty swallowing - persistent vomiting - slowed growth rate - GI bleeding - delayed puberty - diarrhea at night Further diagnostic tests may also be needed for children with a family history of - inflammatory bowel diseaselong-lasting disorders that cause irritation and ulcers, or sores, in the GI tract - celiac diseasean immune disease in which people cannot tolerate gluten, a protein found in wheat, rye, and barley, because it will damage the lining of their small intestine and prevent absorption of nutrients - peptic ulcer diseasea sore in the lining of the esophagus or stomach Additional diagnostic tests may include a stool test, ultrasound, and flexible sigmoidoscopy or colonoscopy. Stool tests. A stool test is the analysis of a sample of stool. The health care provider will give the childs caretaker a container for catching and storing the childs stool. The sample is returned to the health care provider or a commercial facility and sent to a lab for analysis. The health care provider may also do a rectal exam, sometimes during the physical exam, to check for blood in the stool. Stool tests can show the presence of parasites or blood. Ultrasound. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging; anesthesia is not needed. The images can show problems in the GI tract causing pain or other symptoms. Flexible sigmoidoscopy or colonoscopy. The tests are similar, but a colonoscopy is used to view the rectum and entire colon, while a flexible sigmoidoscopy is used to view just the rectum and lower colon. These tests are performed at a hospital or outpatient center by a gastroenterologista doctor who specializes in digestive diseases. For both tests, a health care provider will give written bowel prep instructions to follow at home. The child may be asked to follow a clear liquid diet for 1 to 3 days before either test. The night before the test, the child may need to take a laxative. One or more enemas may also be required the night before and about 2 hours before the test. In most cases, light anesthesia, and possibly pain medication, helps the child relax. For either test, the child will lie on a table while the gastroenterologist inserts a flexible tube into the anus. A small camera on the tube sends a video image of the intestinal lining to a computer screen. The test can show signs of problems in the lower GI tract. The gastroenterologist may also perform a biopsy, a procedure that involves taking a piece of intestinal lining for examination with a microscope. The child will not feel the biopsy. A pathologista doctor who specializes in diagnosing diseasesexamines the tissue in a lab. Cramping or bloating may occur during the first hour after the test. Full recovery is expected by the next day.

Question: How to diagnose Primary Ciliary Dyskinesia ? Answer:

Your doctor or your child's doctor will diagnose primary ciliary dyskinesia (PCD) based on signs and symptoms and test results. If your primary care doctor thinks that you may have PCD or another lung disorder, he or she may refer you to a pulmonologist. This is a doctor who specializes in diagnosing and treating lung diseases and conditions. Signs and Symptoms Your doctor will look for signs and symptoms that point to PCD, such as: Respiratory distress (breathing problems) at birth Chronic sinus, middle ear, and/or lung infections Situs inversus (internal organs in positions opposite of what is normal) For more information, go to "What Are the Signs and Symptoms of Primary Ciliary Dyskinesia?" Your doctor also may ask whether you have a family history of PCD. PCD is an inherited disease. "Inherited" means the disease is passed from parents to children through genes. A family history of PCD suggests an increased risk for the disease. Diagnostic Tests If the doctor thinks that you or your child might have PCD, he or she may recommend tests to confirm the diagnosis. Genetic Testing Researchers have found many gene defects associated with PCD. Genetic testing can show whether you have faulty genes linked to the disease. Genetic testing is done using a blood sample. The sample is taken from a vein in your body using a needle. The blood sample is checked at a special genetic testing laboratory (lab). Electron Microscopy Doctors can use a special microscope, called an electron microscope, to look at samples of your airway cilia. This test can show whether your cilia are faulty. An ear, nose, and throat (ENT) specialist or a pulmonologist (lung specialist) will take samples of your cilia. He or she will brush the inside of your nose or remove some cells from your airways. The doctor will send the samples to a lab. There, a pathologist will look at them under an electron microscope. (A pathologist is a doctor who specializes in identifying diseases by studying cells and tissues under a microscope.) Other Tests Sometimes doctors use one or more of the following tests to help diagnose PCD. These tests are less complex than genetic testing and electron microscopy, and they can be done in a doctor's office. However, these tests don't give a final diagnosis. Based on the test results, doctors may recommend the more complex tests. Video microscopy. For this test, a pulmonologist brushes the inside of your nose to get a sample of cilia. Then, he or she looks at the cilia under a microscope to see how they move. Abnormal movement of the cilia may be a sign of PCD. Radiolabeled particles. For this test, you breathe in tiny particles that have a small amount of radiation attached to them. When you breathe out, your doctor will test how well your cilia can move the particles. If you breathe out a smaller than normal number of particles, your cilia may not be working well. This could be a sign of PCD. Nasal nitric oxide. This test measures the level of nitric oxide (a gas) when you breathe out. In people who have PCD, the level of nitric oxide is very low compared with normal levels. Doctors don't know why people who have PCD breathe out such low levels of nitric oxide. Semen analysis. This test is used for adult men. In men, PCD can affect cilia-like structures that help sperm cells move. As a result, men who have PCD may have fertility problems. ("Fertility" refers to the ability to have children.) For this test, a sample of semen is checked under a microscope. Abnormal sperm may be a sign of PCD. Tests for other conditions. Your doctor also might want to do tests to rule out diseases and disorders that have symptoms similar to those of PCD. For example, you may have tests to rule out cystic fibrosis or immune disorders.

Question: What are the symptoms of Fanconi Anemia ? Answer:

Major Signs and Symptoms Your doctor may suspect you or your child has Fanconi anemia (FA) if you have signs and symptoms of: Anemia Bone marrow failure Birth defects Developmental or eating problems FA is an inherited disorderthat is, it's passed from parents to children through genes. If a child has FA, his or her brothers and sisters also should be tested for the disorder. Anemia The most common symptom of all types of anemia is fatigue (tiredness). Fatigue occurs because your body doesn't have enough red blood cells to carry oxygen to its various parts. If you have anemia, you may not have the energy to do normal activities. A low red blood cell count also can cause shortness of breath, dizziness, headaches, coldness in your hands and feet, pale skin, and chest pain. Bone Marrow Failure When your bone marrow fails, it can't make enough red blood cells, white blood cells, and platelets. This can cause many problems that have various signs and symptoms. With too few red blood cells, you can develop anemia. In FA, the size of your red blood cells also can be much larger than normal. This makes it harder for the cells to work well. With too few white blood cells, you're at risk for infections. Infections also may last longer and be more serious than normal. With too few platelets, you may bleed and bruise easily, suffer from internal bleeding, or have petechiae (pe-TEE-kee-ay). Petechiae are tiny red or purple spots on the skin. Bleeding in small blood vessels just below your skin causes these spots. In some people who have FA, the bone marrow makes a lot of harmful, immature white blood cells called blasts. Blasts don't work like normal blood cells. As they build up, they prevent the bone marrow from making enough normal blood cells. A large number of blasts in the bone marrow can lead to a type of blood cancer called acute myeloid leukemia (AML). Birth Defects Many birth defects can be signs of FA. These include: Bone or skeletal defects. FA can cause missing, oddly shaped, or three or more thumbs. Arm bones, hips, legs, hands, and toes may not form fully or normally. People who have FA may have a curved spine, a condition called scoliosis (sco-le-O-sis). Eye and ear defects. The eyes, eyelids, and ears may not have a normal shape. Children who have FA also might be born deaf. Skin discoloration. This includes coffee-colored areas or odd-looking patches of lighter skin. Kidney problems. A child who has FA might be born with a missing kidney or kidneys that aren't shaped normally. Congenital heart defects. The most common congenital heart defect linked to FA is a ventricular septal defect (VSD). A VSD is a hole or defect in the lower part of the wall that separates the hearts left and right chambers. Developmental Problems Other signs and symptoms of FA are related to physical and mental development. They include: Low birth weight Poor appetite Delayed growth Below-average height Small head size Mental retardation or learning disabilities Signs and Symptoms of Fanconi Anemia in Adults Some signs and symptoms of FA may develop as you or your child gets older. Women who have FA may have some or all of the following: Sex organs that are less developed than normal Menstruating later than women who don't have FA Starting menopause earlier than women who don't have FA Problems getting pregnant and carrying a pregnancy to full term Men who have FA may have sex organs that are less developed than normal. They also may be less fertile than men who don't have the disease.

Question: What are the symptoms of Prune belly syndrome ? Answer:

What are the signs and symptoms of Prune belly syndrome? The severity of symptoms in infants with prune belly syndrome can vary greatly from child to child. Common symptoms are poorly developed abdominal muscles, undescended testicles in males, and urinary tract problems such as swelling of the kidney, abnormally developed kidneys, and enlarged ureters, bladder, and urethra. Prune belly syndrome may also cause lung, heart, gastrointestinal, and other organ, bone, and muscle damage. The Human Phenotype Ontology provides the following list of signs and symptoms for Prune belly 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 abdominal wall musculature 90% Aplasia/Hypoplasia of the lungs 90% Cryptorchidism 90% Decreased fertility 90% Neoplasm of the thymus 90% Vesicoureteral reflux 90% Abnormal immunoglobulin level 50% Abnormality of the ribs 50% Acrocyanosis 50% Chest pain 50% Constipation 50% Diaphragmatic paralysis 50% Mediastinal lymphadenopathy 50% Multicystic kidney dysplasia 50% Oligohydramnios 50% Periorbital edema 50% Recurrent respiratory infections 50% Recurrent urinary tract infections 50% Renal insufficiency 50% Respiratory insufficiency 50% Abnormality of coagulation 7.5% Abnormality of the hip bone 7.5% Abnormality of the pericardium 7.5% Atria septal defect 7.5% Autoimmunity 7.5% Cognitive impairment 7.5% Fatigable weakness 7.5% Feeding difficulties in infancy 7.5% Increased intracranial pressure 7.5% Intestinal malrotation 7.5% Migraine 7.5% Neuroendocrine neoplasm 7.5% Neurological speech impairment 7.5% Patent ductus arteriosus 7.5% Pectus excavatum 7.5% Ptosis 7.5% Scoliosis 7.5% Sudden cardiac death 7.5% Talipes 7.5% Tetralogy of Fallot 7.5% Urogenital fistula 7.5% Urogenital sinus anomaly 7.5% Ventricular septal defect 7.5% Vertebral segmentation defect 7.5% Volvulus 7.5% Abnormality of the skin - Anal atresia - Aplasia of the abdominal wall musculature - Autosomal recessive inheritance - Congenital hip dislocation - Congenital posterior urethral valve - Hydronephrosis - Hydroureter - Pectus carinatum - Prune belly - Talipes equinovarus - Xerostomia - 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) Diabetes, Heart Disease, and Stroke ? Answer:

Two major types of heart and blood vessel disease, also called cardiovascular disease, are common in people with diabetes: coronary artery disease (CAD) and cerebral vascular disease. People with diabetes are also at risk for heart failure. Narrowing or blockage of the blood vessels in the legs, a condition called peripheral arterial disease, can also occur in people with diabetes. Coronary Artery Disease Coronary artery disease, also called ischemic heart disease, is caused by a hardening or thickening of the walls of the blood vessels that go to your heart. Your blood supplies oxygen and other materials your heart needs for normal functioning. If the blood vessels to your heart become narrowed or blocked by fatty deposits, the blood supply is reduced or cut off, resulting in a heart attack. Cerebral Vascular Disease Cerebral vascular disease affects blood flow to the brain, leading to strokes and TIAs. It is caused by narrowing, blocking, or hardening of the blood vessels that go to the brain or by high blood pressure. Stroke A stroke results when the blood supply to the brain is suddenly cut off, which can occur when a blood vessel in the brain or neck is blocked or bursts. Brain cells are then deprived of oxygen and die. A stroke can result in problems with speech or vision or can cause weakness or paralysis. Most strokes are caused by fatty deposits or blood clotsjelly-like clumps of blood cellsthat narrow or block one of the blood vessels in the brain or neck. A blood clot may stay where it formed or can travel within the body. People with diabetes are at increased risk for strokes caused by blood clots. A stroke may also be caused by a bleeding blood vessel in the brain. Called an aneurysm, a break in a blood vessel can occur as a result of high blood pressure or a weak spot in a blood vessel wall. TIAs TIAs are caused by a temporary blockage of a blood vessel to the brain. This blockage leads to a brief, sudden change in brain function, such as temporary numbness or weakness on one side of the body. Sudden changes in brain function also can lead to loss of balance, confusion, blindness in one or both eyes, double vision, difficulty speaking, or a severe headache. However, most symptoms disappear quickly and permanent damage is unlikely. If symptoms do not resolve in a few minutes, rather than a TIA, the event could be a stroke. The occurrence of a TIA means that a person is at risk for a stroke sometime in the future. See page 3 for more information on risk factors for stroke. Heart Failure Heart failure is a chronic condition in which the heart cannot pump blood properlyit does not mean that the heart suddenly stops working. Heart failure develops over a period of years, and symptoms can get worse over time. People with diabetes have at least twice the risk of heart failure as other people. One type of heart failure is congestive heart failure, in which fluid builds up inside body tissues. If the buildup is in the lungs, breathing becomes difficult. Blockage of the blood vessels and high blood glucose levels also can damage heart muscle and cause irregular heart beats. People with damage to heart muscle, a condition called cardiomyopathy, may have no symptoms in the early stages, but later they may experience weakness, shortness of breath, a severe cough, fatigue, and swelling of the legs and feet. Diabetes can also interfere with pain signals normally carried by the nerves, explaining why a person with diabetes may not experience the typical warning signs of a heart attack. Peripheral Arterial Disease Another condition related to heart disease and common in people with diabetes is peripheral arterial disease (PAD). With this condition, the blood vessels in the legs are narrowed or blocked by fatty deposits, decreasing blood flow to the legs and feet. PAD increases the chances of a heart attack or stroke occurring. Poor circulation in the legs and feet also raises the risk of amputation. Sometimes people with PAD develop pain in the calf or other parts of the leg when walking, which is relieved by resting for a few minutes.

Question: What causes Heart Valve Disease ? Answer:

Heart conditions and other disorders, age-related changes, rheumatic fever, or infections can cause acquired heart valve disease. These factors change the shape or flexibility of once-normal heart valves. The cause of congenital heart valve disease isnt known. It occurs before birth as the heart is forming. Congenital heart valve disease can occur alone or with other types of congenital heartdefects. Heart Conditions and Other Disorders Certain conditions can stretch and distort the heart valves. These conditions include: Advanced high blood pressure and heart failure, thiscan enlarge the heart or the main arteries. Atherosclerosis in the aorta. Atherosclerosis is a condition in which a waxy substance called plaque builds up inside the arteries. The aorta is the main artery that carries oxygen-rich blood to the body. Damage and scar tissue due to a heart attack or injury to the heart. Rheumatic Fever Untreated strep throat or other infections with strep bacteria that progress to rheumatic fever can cause heart valve disease. When the body tries to fight the strep infection, one or more heart valves may be damaged or scarred in the process. The aortic and mitral valves most often are affected. Symptoms of heart valve damage often dont appear until many years after recovery from rheumatic fever. Today, most people who have strep infections are treated with antibiotics before rheumatic fever occurs. If you have strep throat, take all of the antibiotics your doctor prescribes, even if you feel better before the medicine is gone. Heart valve disease caused by rheumatic fever mainly affects older adults who had strep infections before antibiotics were available. It also affects people from developing countries, where rheumatic fever is more common. Infections Common germs that enter the bloodstream and get carried to the heart can sometimes infect the inner surface of the heart, including the heart valves. This rare but serious infection is called infective endocarditis. The germs can enter the bloodstream through needles, syringes, or other medical devices and through breaks in the skin or gums. Often, the bodys defenses fight off the germs and no infection occurs. Sometimes these defenses fail, which leads to infective endocarditis. Infective endocarditis can develop in people who already have abnormal blood flow through a heart valve as the result of congenital or acquired heart valve disease. The abnormal blood flow causes blood clots to form on the surface of the valve. The blood clots make it easier for germs to attach to and infect the valve. Infective endocarditis can worsen existing heart valve disease. Other Conditions and Factors Linked to Heart Valve Disease Many other conditions and factors are linked to heart valve disease. However, the role they play in causing heart valve disease often isnt clear. Autoimmune disorders. Autoimmune disorders, such as lupus, can affect the aortic and mitral valves. Carcinoid syndrome. Tumors in the digestive tract that spread to the liver or lymph nodes can affect the tricuspid and pulmonary valves. Diet medicines. The use of fenfluramine and phentermine (fen-phen) sometimes has been linked to heart valve problems. These problems typically stabilize or improve after the medicine is stopped. Marfan syndrome. Congenital disorders, such as Marfan syndrome and other connective tissue disorders, can affect the heart valves. Metabolic disorders. Relatively uncommon diseases (such as Fabry disease) and other metabolic disorders (such as high blood cholesterol) can affect the heart valves. Radiation therapy. Radiation therapy to the chest area can cause heart valve disease. This therapy is used to treat cancer. Heart valve disease due to radiation therapy may not cause symptoms until years after the therapy.

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

What are the signs and symptoms of Oculofaciocardiodental syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculofaciocardiodental 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 cardiac septa 90% Aplasia/Hypoplasia affecting the eye 90% Cataract 90% Delayed eruption of teeth 90% Microcornea 90% Midline defect of the nose 90% Camptodactyly of toe 50% Cleft palate 50% Long philtrum 50% Narrow face 50% Prominent nasal bridge 50% Radioulnar synostosis 50% Reduced number of teeth 50% Toe syndactyly 50% Abnormality of the mitral valve 7.5% Abnormality of the pulmonary valve 7.5% Aplasia/Hypoplasia of the thumb 7.5% Clinodactyly of the 5th finger 7.5% Cognitive impairment 7.5% Cubitus valgus 7.5% Ectopia lentis 7.5% Feeding difficulties in infancy 7.5% Genu valgum 7.5% Glaucoma 7.5% Highly arched eyebrow 7.5% Intestinal malrotation 7.5% Iris coloboma 7.5% Patent ductus arteriosus 7.5% Ptosis 7.5% Retinal detachment 7.5% Scoliosis 7.5% Sensorineural hearing impairment 7.5% Adrenal insufficiency 5% Decreased body weight 5% Dextrocardia 5% Double outlet right ventricle 5% Flexion contracture 5% Hand clenching 5% Hypoplasia of the corpus callosum 5% Hypospadias 5% Hypothyroidism 5% Phthisis bulbi 5% Seizures 5% Spastic paraparesis 5% Talipes equinovarus 5% Umbilical hernia 5% 2-3 toe syndactyly - Anophthalmia - Aortic valve stenosis - Asymmetry of the ears - Atria septal defect - Bifid nasal tip - Bifid uvula - Blepharophimosis - Broad nasal tip - Congenital cataract - Cryptorchidism - Dental malocclusion - Exotropia - Fused teeth - Hammertoe - Increased number of teeth - Intellectual disability, mild - Laterally curved eyebrow - Long face - Microcephaly - Microphthalmia - Mitral valve prolapse - Motor delay - Oligodontia - Persistence of primary teeth - Persistent hyperplastic primary vitreous - Posteriorly rotated ears - Pulmonic stenosis - Septate vagina - Short stature - Submucous cleft hard palate - Thick eyebrow - Ventricular septal defect - Visual loss - 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 stages of Renal Cell Cancer ? Answer:

Key Points - After renal cell cancer has been diagnosed, tests are done to find out if cancer cells have spread within the kidney or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for renal cell cancer: - Stage I - Stage II - Stage III - Stage IV After renal cell cancer has been diagnosed, tests are done to find out if cancer cells have spread within the kidney or to other parts of the body. The process used to find out if cancer has spread within the kidney or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The following tests and procedures may be used in the staging process: - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - 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). - 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. 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 renal cell cancer spreads to the bone, the cancer cells in the bone are actually cancerous renal cells. The disease is metastatic renal cell cancer, not bone cancer. The following stages are used for renal cell cancer: Stage I In stage I, the tumor is 7 centimeters or smaller and is found only in the kidney. Stage II In stage II, the tumor is larger than 7 centimeters and is found only in the kidney. Stage III In stage III: - the tumor is any size and cancer is found only in the kidney and in 1 or more nearby lymph nodes; or - cancer is found in the main blood vessels of the kidney or in the layer of fatty tissue around the kidney. Cancer may be found in 1 or more nearby lymph nodes. Stage IV In stage IV, cancer has spread: - beyond the layer of fatty tissue around the kidney and may be found in the adrenal gland above the kidney with cancer, or in nearby lymph nodes; or - to other organs, such as the lungs, liver, bones, or brain, and may have spread to lymph nodes.

Question: What causes Heart Failure ? Answer:

Heart failure is caused by other diseases or conditions that damage the heart muscle such as coronary artery disease (including heart attacks), diabetes, and high blood pressure. Treating these problems can prevent or improve heart failure. Coronary Artery Disease Coronary artery disease is a leading cause of death in men and women. It happens when the arteries that supply blood to the heart become hardened and narrowed. High Blood Pressure High blood pressure is the force of blood pushing against the walls of the arteries. If this pressure rises and stays high over time, it can weaken your heart and lead to plaque buildup, which can then lead to heart failure. Diabetes Diabetes is characterized by having too much glucose, or sugar, in the blood for a long time. This can cause heart problems because high blood glucose can damage parts of the body such as the heart and blood vessels. This damage weakens the heart, often leading to heart failure. Other Diseases Other diseases and conditions also can lead to heart failure, such as - Cardiomyopathy (KAR-de-o-mi-OP-ah-thee), or heart muscle disease. Cardiomyopathy may be present at birth or caused by injury or infection. - Heart valve disease. Problems with the heart valves may be present at birth or caused by infection, heart attack, or damage from heart disease. - Arrhythmias (ah-RITH-me-ahs), or irregular heartbeats. These heart problems may be present at birth or caused by heart disease or heart defects. - Congenital (kon-JEN-ih-tal) heart defects. These problems with the heart's structure are present at birth. Cardiomyopathy (KAR-de-o-mi-OP-ah-thee), or heart muscle disease. Cardiomyopathy may be present at birth or caused by injury or infection. Heart valve disease. Problems with the heart valves may be present at birth or caused by infection, heart attack, or damage from heart disease. Arrhythmias (ah-RITH-me-ahs), or irregular heartbeats. These heart problems may be present at birth or caused by heart disease or heart defects. Congenital (kon-JEN-ih-tal) heart defects. These problems with the heart's structure are present at birth. Other Factors Other factors also can injure the heart muscle and lead to heart failure. Examples include - treatments for cancer, such as radiation and chemotherapy - thyroid disorders (having either too much or too little thyroid hormone in the body) - alcohol abuse or cocaine and other illegal drug use - HIV/AIDS - too much vitamin E. treatments for cancer, such as radiation and chemotherapy thyroid disorders (having either too much or too little thyroid hormone in the body) alcohol abuse or cocaine and other illegal drug use HIV/AIDS too much vitamin E. Sleep Apnea Heart damage from obstructive sleep apnea may worsen heart failure. Sleep apnea is a common disorder in which you have one or more pauses in breathing or shallow breaths while you sleep. Sleep apnea can deprive your heart of oxygen and increase its workload. Treating this sleep disorder might improve heart failure. Who Is at Risk? Heart failure can happen to almost anyone. It is the number one reason for hospitalization for people over age 65. Heart failure is more common in - people who are 65 years old or older - African-Americans - people who are overweight - people who have had a heart attack - men. people who are 65 years old or older African-Americans people who are overweight people who have had a heart attack men. Aging can weaken the heart muscle. Older people also may have had diseases for many years that led to heart failure. African Americans are more likely to have heart failure than people of other races. They're also more likely to have symptoms at a younger age, have more hospital visits due to heart failure, and die from heart failure. Excess weight puts strain on the heart. Being overweight also increases your risk of heart disease and type 2 diabetes. These diseases can lead to heart failure. A history of a heart attack puts people at greater risk for heart failure. Men have a higher rate of heart failure than women.

Question: What are the symptoms of Leukemia ? Answer:

During the early stages of leukemia, there may be no symptoms. Many of the symptoms of leukemia don't become apparent until a large number of normal blood cells are crowded out by leukemia cells. Symptoms of Chronic and Acute Leukemia In chronic leukemia, symptoms develop gradually and, in the beginning, are generally not as severe as in acute leukemia. Chronic leukemia is usually found during a routine doctor's exam before symptoms are present. When symptoms appear, they generally are mild at first and gradually get worse, but sometimes they don't worsen until many years after an initial diagnosis. Recently, researchers discovered that abnormal white blood cells can be present in the blood of chronic lymphocytic leukemia patients a number of years before a diagnosis. This finding may lead to a better understanding of the cellular changes that occur in the earliest stages of the disease and how the disease progresses. In acute leukemia, symptoms usually appear and get worse quickly. People with this disease usually go to their doctor because they feel sick. White Blood Cell Levels May Be High People with leukemia may have very high levels of white blood cells, but because the cells are abnormal, they are unable to fight infection. Therefore, patients may develop frequent fevers or infections. A shortage of red blood cells, called anemia, can cause a person to feel tired. Not having enough blood platelets may cause a person to bleed and bruise easily. Some symptoms depend on where leukemia cells collect in the body. Leukemia cells can collect in many different tissues and organs, such as the digestive tract, kidneys, lungs, lymph nodes, or other parts of the body, including the eyes, brain, and testicles. Other Common Symptoms Other common symptoms of leukemia include headache, weight loss, pain in the bones or joints, swelling or discomfort in the abdomen (from an enlarged spleen), and swollen lymph nodes, especially in the neck or armpit. Symptoms of acute leukemia may include vomiting, confusion, loss of muscle control, and seizures. Some of the symptoms of leukemia are similar to those caused by the flu or other common diseases, so these symptoms are not sure signs of leukemia. It is important to check with your doctor if you have these symptoms. Only a doctor can diagnose and treat leukemia. Diagnosing Leukemia: Physical Exam, Blood Tests, Biopsy To find the cause of leukemia symptoms, the doctor will ask about medical history and conduct a physical exam. During the exam, the doctor will check for signs of disease such as lumps, swelling in the lymph nodes, spleen, and liver, or anything else that seems unusual. The doctor will need to do blood tests that check the levels and types of blood cells and look for changes in the shape of blood cells. The doctor also may look at certain factors in the blood to see if leukemia has affected other organs such as the liver or kidneys. Even if blood tests suggest leukemia, the doctor may look for signs of leukemia in the bone marrow by doing a biopsy before making a diagnosis. A biopsy is a procedure where a small amount of bone marrow is removed from a bone. A pathologist examines the sample under a microscope to look for abnormal cells. There are two ways the doctor can obtain bone marrow. In a bone marrow aspiration, marrow is collected by inserting a needle into the hipbone or another large bone and removing a small amount of bone marrow. A bone marrow biopsy is performed with a larger needle and removes bone marrow and a small piece of bone. If Leukemia Cells Are Found If leukemia cells are found in the bone marrow sample, the doctor may perform more tests to determine if the disease has spread to other parts of the body. The doctor may collect a sample of the fluid around the brain and spinal cord by performing a spinal tap and checking for leukemia cells or other signs of problems. Computed tomography (CT) scans, and ultrasounds are tests used to determine if leukemia has spread from the bone marrow. These tests produce pictures of the inside of the body. With these tests, the doctor looks for abnormalities such as enlarged organs or signs of infection.

Question: What are the treatments for Sarcoidosis ? Answer:

Not everyone who has sarcoidosis needs treatment. Sometimes the disease goes away on its own. Whether you need treatment and what type of treatment you need depend on your signs and symptoms, which organs are affected, and whether those organs are working well. If the disease affects certain organssuch as your eyes, heart, or brainyou'll need treatment even if you don't have any symptoms. In either case, whether you have symptoms or not, you should see your doctor for ongoing care. He or she will want to check to make sure that the disease isn't damaging your organs. For example, you may need routine lung function tests to make sure that your lungs are working well. If the disease isn't worsening, your doctor may watch you closely to see whether the disease goes away on its own. If the disease does start to get worse, your doctor can prescribe treatment. The goals of treatment include: Relieving symptoms Improving organ function Controlling inflammation and reducing the size of granulomas (inflamed lumps) Preventing pulmonary fibrosis (lung scarring) if your lungs are affected Your doctor may prescribe topical treatments and/or medicines to treat the disease. Medicines Prednisone Prednisone, a type of steroid, is the main treatment for sarcoidosis. This medicine reduces inflammation. In most people, prednisone relieves symptoms within a couple of months. Although most people need to take prednisone for 12 months or longer, your doctor may lower the dose within a few months after you start the medicine. Long-term use of prednisone, especially at high doses, can cause serious side effects. Work with your doctor to decide whether the benefits of this medicine outweigh the risks. If your doctor prescribes this treatment, he or she will find the lowest dose that controls your disease. When you stop taking prednisone, you should cut back slowly (as your doctor advises). This will help prevent flareups of sarcoidosis. Cutting back slowly also allows your body to adjust to not having the medicine. If a relapse or flareup occurs after you stop taking prednisone, you may need a second round of treatment. If you remain stable for more than 1 year after stopping this treatment, the risk of relapse is low. Other Medicines Other medicines, besides prednisone, also are used to treat sarcoidosis. Examples include: Hydroxychloroquine or chloroquine (known as antimalarial medicines). These medicines work best for treating sarcoidosis that affects the skin or brain. Your doctor also may prescribe an antimalarial if you have a high level of calcium in your blood due to sarcoidosis. Medicines that suppress the immune system, such as methotrexate, azathioprine, or leflunomide. These medicines work best for treating sarcoidosis that affects your lungs, eyes, skin, or joints. Your doctor may prescribe these medicines if your sarcoidosis worsens while you're taking prednisone or if you can't handle prednisone's side effects. If you have Lofgren's syndrome with pain or fever, your doctor may prescribe nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen. If you're wheezing and coughing, you may need inhaled medicine to help open your airways. You take inhaled medicine using an inhaler. This device allows the medicine to go straight to your lungs. Anti-tumor necrosis factor drugs, originally developed to treat arthritis, are being studied to treat sarcoidosis. Ongoing Research Researchers continue to look for new and better treatments for sarcoidosis. They're currently studying treatments aimed at the immune system. Researchers also are studying antibiotics as a possible treatment for sarcoidosis that affects the skin. For more information about ongoing research, go to the Clinical Trials section of this article.

Question: What is (are) Charcot-Marie-Tooth disease ? Answer:

Charcot-Marie-Tooth disease is a group of progressive disorders that affect the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Damage to the peripheral nerves can result in loss of sensation and wasting (atrophy) of muscles in the feet, legs, and hands. Charcot-Marie-Tooth disease usually becomes apparent in adolescence or early adulthood, but onset may occur anytime from early childhood through late adulthood. Symptoms of Charcot-Marie-Tooth disease vary in severity, even among members of the same family. Some people never realize they have the disorder, but most have a moderate amount of physical disability. A small percentage of people experience severe weakness or other problems which, in rare cases, can be life-threatening. In most affected individuals, however, Charcot-Marie-Tooth disease does not affect life expectancy. Typically, the earliest symptoms of Charcot-Marie-Tooth disease involve balance difficulties, clumsiness, and muscle weakness in the feet. Affected individuals may have foot abnormalities such as high arches (pes cavus), flat feet (pes planus), or curled toes (hammer toes). They often have difficulty flexing the foot or walking on the heel of the foot. These difficulties may cause a higher than normal step (or gait) and increase the risk of ankle injuries and tripping. As the disease progresses, muscles in the lower legs usually weaken, but leg and foot problems rarely require the use of a wheelchair. Affected individuals may also develop weakness in the hands, causing difficulty with daily activities such as writing, fastening buttons, and turning doorknobs. People with this disorder typically experience a decreased sensitivity to touch, heat, and cold in the feet and lower legs, but occasionally feel aching or burning sensations. In some cases, affected individuals experience gradual hearing loss, deafness, or loss of vision. There are several types of Charcot-Marie-Tooth disease. Type 1 Charcot-Marie-Tooth disease (CMT1) is characterized by abnormalities in myelin, the fatty substance that covers nerve cells, protecting them and helping to conduct nerve impulses. These abnormalities slow the transmission of nerve impulses. Type 2 Charcot-Marie-Tooth disease (CMT2) is characterized by abnormalities in the fiber, or axon, that extends from a nerve cell body and transmits nerve impulses. These abnormalities reduce the strength of the nerve impulse. Type 4 Charcot-Marie-Tooth disease (CMT4) affects either the axon or myelin and is distinguished from the other types by its pattern of inheritance. In intermediate forms of Charcot-Marie-Tooth disease, the nerve impulses are both slowed and reduced in strength, probably due to abnormalities in both axons and myelin. Type X Charcot-Marie-Tooth disease (CMTX) is caused by mutations in a gene on the X chromosome, one of the two sex chromosomes. Within the various types of Charcot-Marie-Tooth disease, subtypes (such as CMT1A, CMT1B, CMT2A, CMT4A, and CMTX1) are distinguished by the specific gene that is altered. Sometimes other, more historical names are used to describe this disorder. For example, Roussy-Levy syndrome is a form of Charcot-Marie-Tooth disease defined by the additional feature of rhythmic shaking (tremors). Dejerine-Sottas syndrome is a term sometimes used to describe a severe, early childhood form of Charcot-Marie-Tooth disease; it is also sometimes called Charcot-Marie-Tooth disease type 3 (CMT3). Depending on the specific gene that is altered, this severe, early onset form of the disorder may also be classified as CMT1 or CMT4. CMTX5 is also known as Rosenberg-Chutorian syndrome. Some researchers believe that this condition is not actually a form of Charcot-Marie-Tooth disease. Instead, they classify it as a separate disorder characterized by peripheral nerve problems, deafness, and vision loss.

Question: What are the symptoms of Fetal hydantoin syndrome ? Answer:

What are the signs and symptoms of Fetal hydantoin syndrome? There is a wide range in the nature and severity of characteristics associated with fetal hydantoin syndrome. Of infants born to women who used phenytoin during pregnancy, 10-30% are reported to show some of the characteristics associated with this syndrome. Few infants exposed only to phenytoin have all of the characteristic that have been reported. Children with this condition may be small at birth, with increased hair on the body and face, and with poorly developed fingernails and toenails. They may also have poor muscle tone. Facial features that may be present with this syndrome include a flat bridge of the nose; an underdeveloped vertical groove in the center of the upper lip (philtrum); a large mouth; and malformed ears. Features specific to the eyes may include down-slanted eyes; widely spaced eyes (hypertelorism); crossed eyes (strabismus); drooping eyelids (ptosis); and/or epicanthal folds (skin folds of the eyelid covering the inner corner of the eye). Other features that have been reported include a short or webbed neck and low-set hair line. Growth deficiencies may include underdeveloped fingers and/or toes, malformed nails, as well as finger-like thumbs. These features are often associated with growth delay and varying degrees of developmental delay. The risk for an affected child to be neurologically impaired is estimated at 1 to 11 % (two to three times higher than for the general population). The risk of cleft lip and/or palate and heart defects is estimated to be about five times higher among exposed infants. Some case reports have suggested an increased risk for the occurrence of benign (noncancerous) or malignant (cancerous) tumors, such as neuroblastoma or other neonatal tumors (ependymoma, ectodermal tumors, Wilms tumor). The Human Phenotype Ontology provides the following list of signs and symptoms for Fetal hydantoin 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% Depressed nasal ridge 90% Hearing abnormality 90% Low-set, posteriorly rotated ears 90% Short nose 90% Abnormality of the fontanelles or cranial sutures 50% Abnormality of the nipple 50% Anonychia 50% Bifid scrotum 50% Brachydactyly syndrome 50% Coarse hair 50% Cognitive impairment 50% Epicanthus 50% Hernia 50% Hypertelorism 50% Intrauterine growth retardation 50% Low posterior hairline 50% Microcephaly 50% Ptosis 50% Short stature 50% Strabismus 50% Thickened nuchal skin fold 50% Triphalangeal thumb 50% Wide mouth 50% Abnormality of the cardiovascular system 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Neoplasm 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What are the symptoms of Diabetes ? Answer:

Diabetes is often called a "silent" disease because it can cause serious complications even before you have symptoms. Symptoms can also be so mild that you dont notice them. An estimated 8 million people in the United States have type 2 diabetes and dont know it, according to 2012 estimates by the Centers for Disease Control and Prevention (CDC). Common Signs Some common symptoms of diabetes are: - being very thirsty - frequent urination - feeling very hungry or tired - losing weight without trying - having sores that heal slowly - having dry, itchy skin - loss of feeling or tingling in the feet - having blurry eyesight. being very thirsty frequent urination feeling very hungry or tired losing weight without trying having sores that heal slowly having dry, itchy skin loss of feeling or tingling in the feet having blurry eyesight. Signs of type 1 diabetes usually develop over a short period of time. The signs for type 2 diabetes develop more gradually. Tests for Diabetes The following tests are used to diagnose diabetes or prediabetes. - An A1C test measures your average blood glucose levels over the past 3 months. It can be used to diagnose type 2 diabetes and prediabetes. It does not require fasting and blood can be drawn for the test any time of the day. An A1C test measures your average blood glucose levels over the past 3 months. It can be used to diagnose type 2 diabetes and prediabetes. It does not require fasting and blood can be drawn for the test any time of the day. - A fasting plasma glucose, or FPG test, measures your blood glucose after you have gone at least 8 hours without eating. Doctors use this test to detect diabetes or prediabetes. A fasting plasma glucose, or FPG test, measures your blood glucose after you have gone at least 8 hours without eating. Doctors use this test to detect diabetes or prediabetes. - In a random plasma glucose test, your doctor checks your blood glucose without regard to when you ate your last meal. This test, along with an assessment of symptoms, is used to diagnose diabetes but not prediabetes. In a random plasma glucose test, your doctor checks your blood glucose without regard to when you ate your last meal. This test, along with an assessment of symptoms, is used to diagnose diabetes but not prediabetes. - An oral glucose tolerance test, or OGTT, measures your blood glucose after you have gone at least 8 hours without eating and 2 hours after you drink a sweet beverage. Doctors also use the oral glucose tolerance test to diagnose gestational diabetes in pregnant women. An oral glucose tolerance test, or OGTT, measures your blood glucose after you have gone at least 8 hours without eating and 2 hours after you drink a sweet beverage. Doctors also use the oral glucose tolerance test to diagnose gestational diabetes in pregnant women. If any of these tests show that you might have diabetes, your doctor will need to repeat the test with a second measurement unless there are clear symptoms of diabetes. Get more details about tests for diabetes. Who Should Get Tested? Because type 2 diabetes is more common in older people, anyone who is 45 or older should consider getting tested. If you are 45 or older and overweight, getting tested is strongly recommended. If you are younger than 45, overweight, and have one or more risk factors, you also should talk with your doctor about being tested. See risk factors for type 2 diabetes. Why Early Detection is Important Diabetes is a serious disease that can lead to a number of health problems such as heart disease, stroke, vision problems, kidney disease and even death. Sometimes people have symptoms but do not suspect diabetes. They delay scheduling a checkup because they do not feel sick. Many people do not find out they have the disease until they have diabetes complications, such as a heart attack or stroke. Finding out early if you have diabetes is important because treatment can prevent or delay the complications of the disease.

Question: What are the symptoms of Lenz microphthalmia syndrome ? Answer:

What are the signs and symptoms of Lenz microphthalmia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lenz microphthalmia 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 affecting the eye 90% Abnormality of dental morphology 50% Abnormality of the ureter 50% Camptodactyly of finger 50% Chorioretinal coloboma 50% Clinodactyly of the 5th finger 50% Cognitive impairment 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% External ear malformation 50% Finger syndactyly 50% Glaucoma 50% Iris coloboma 50% Low-set, posteriorly rotated ears 50% Microcephaly 50% Microcornea 50% Optic nerve coloboma 50% Oral cleft 50% Preaxial hand polydactyly 50% Renal hypoplasia/aplasia 50% Short stature 50% Abnormality of the clavicle 7.5% Abnormality of the palpebral fissures 7.5% Abnormality of the shoulder 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cataract 7.5% Delayed eruption of teeth 7.5% Hearing impairment 7.5% Hyperlordosis 7.5% Kyphosis 7.5% Long thorax 7.5% Neurological speech impairment 7.5% Nystagmus 7.5% Preauricular skin tag 7.5% Scoliosis 7.5% Seizures 7.5% Self-injurious behavior 7.5% Visual impairment 7.5% Webbed neck 7.5% Autistic behavior 5% Pulmonary hypoplasia 5% Abnormal palmar dermatoglyphics - Abnormality of the pinna - Aganglionic megacolon - Agenesis of maxillary lateral incisor - Aggressive behavior - Anal atresia - Anophthalmia - Bicuspid aortic valve - Blindness - Camptodactyly - Ciliary body coloboma - Cleft upper lip - Clinodactyly - Dental crowding - Down-sloping shoulders - Growth delay - High palate - Hydroureter - Hypospadias - Intellectual disability - Joint contracture of the hand - Kyphoscoliosis - Low-set ears - Lumbar hyperlordosis - Microphthalmia - Motor delay - Muscular hypotonia - Narrow chest - Overfolded helix - Pectus excavatum - Ptosis - Pyloric stenosis - Radial deviation of finger - Rectal prolapse - Recurrent otitis media - Renal hypoplasia - Self-mutilation - Short clavicles - Spastic diplegia - Syndactyly - 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: How to prevent Balance Problems ? Answer:

People are more likely to have problems with balance as they get older. But age is not the only reason these problems occur; there are other causes, too. In some cases, you can help reduce your risk for certain balance problems. Problems in the Inner Ear Some balance disorders are caused by problems in the inner ear. The part of the inner ear that is responsible for balance is the vestibular system, also known as the labyrinth. When the labyrinth becomes infected or swollen, this condition is called labyrinthitis. It is typically accompanied by vertigo and imbalance. Upper respiratory infections and other viral infections, and, less commonly, bacterial infections, can lead to labyrinthitis. Other Causes Other balance diseorers may involve another part of the body, such as the brain or the heart. For example, diseases of the circulatory system, such as stroke, can cause dizziness and other balance problems. Smoking and diabetes can increase the risk of stroke. Low blood pressure can also cause dizziness. Aging, infections, head injury and many medicines may also result in a balance problem. Problems Caused by Medications Balance problems can also result from taking many medications. For example, some medicines, such as those that help lower blood pressure, can make a person feel dizzy. Ototoxic drugs are medicines that damage the inner ear. If your medicine is ototoxic, you may feel off balance. Sometimes the damage lasts only as long as you take the drug; many times it is permanent. Groups of drugs that are more likely to be ototoxic include - antidepressants - anti-seizure drugs (anticonvulsants) - hypertensive (high blood pressure) drugs - sedatives - tranquilizers - anxiolytics (anti-anxiety drugs) - aminoglycosides (a type of antibiotic) - diuretics - vasodilators - certain analgesics (painkillers) - certain chemotherapeutics (anti-cancer drugs). antidepressants anti-seizure drugs (anticonvulsants) hypertensive (high blood pressure) drugs sedatives tranquilizers anxiolytics (anti-anxiety drugs) aminoglycosides (a type of antibiotic) diuretics vasodilators certain analgesics (painkillers) certain chemotherapeutics (anti-cancer drugs). Check with your doctor if you notice a problem while taking a medication. Ask if other medications can be used instead. If not, ask if the dosage can be safely reduced. Sometimes it cannot. However, your doctor will help you get the medication you need while trying to reduce unwanted side effects. Diet and Lifestyle Can Help Your diet and lifestyle can help you manage certain balance-related problems. For example, Mnire's disease, which causes vertigo and other balance and hearing problems, is linked to a change in the volume of fluid in the inner ear. By eating low-salt (low-sodium) or salt-free foods, and steering clear of caffeine and alcohol, you may make Mnire's disease symptoms less severe. See suggestions for limiting salt (sodium) in your diet. Balance problems due to high blood pressure can be managed by eating less salt (less sodium), maintaining a healthy weight, and exercising. Balance problems due to low blood pressure may be managed by drinking plenty of fluids, such as water, avoiding alcohol, and being cautious regarding your body's posture and movement, such as standing up slowly and avoiding crossing your legs when youre seated. Learn more about managing high blood pressure (hypertension). Learn more about manging low blood pressure (hypotension). Prevent Ear Infections The ear infection called otitis media is common in children, but adults can get it too. Otitis media can sometimes cause dizziness. You can help prevent otitis media by washing your hands frequently. Also, talk to your doctor about getting a yearly flu shot to stave off flu-related ear infections. If you still get an ear infection, see a doctor immediately before it becomes more serious. Learn more about otitis media and other ear infections. (Centers for Disease Control and Prevention)

Question: What are the symptoms of Albright's hereditary osteodystrophy ? Answer:

What are the signs and symptoms of Albright's hereditary osteodystrophy? Albright's hereditary osteodystophy is a genetic disorder that can cause many different symptoms. People with this disorder usually have short stature, obesity, round face, short bones in the hands and feet (brachydactyly), subcutaneous (under the skin) ossifications (replacement of cartilage by bone), and dimples on affected knuckles. Some people may have mild developmental delay. People with this disorder usually are resistant to parathyroid hormone (which is a condition called pseudohypoparathyroidism). This causes low levels of calcium in the bones and the blood. Low levels of calcium in the blood (hypocalcemia) can cause numbness, seizures, cataracts (cloudy lens in the eye), dental issues, and tetany (muscle twitches and hand and foot spasms). The Human Phenotype Ontology provides the following list of signs and symptoms for Albright's hereditary osteodystrophy. 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 joint morphology 90% Abnormality of calcium-phosphate metabolism 90% Cafe-au-lait spot 90% Gynecomastia 90% Hyperphosphatemia 90% Hyperthyroidism 90% Obesity 90% Precocious puberty 90% Round face 90% Skeletal dysplasia 90% Abnormality of the menstrual cycle 50% Abnormality of the penis 50% Coarse facial features 50% Cognitive impairment 50% Dry skin 50% Goiter 50% Scoliosis 50% Thin skin 50% Abnormality of the hip bone 7.5% Alopecia 7.5% Craniofacial hyperostosis 7.5% Hearing impairment 7.5% Neoplasm of the breast 7.5% Neoplasm of the thyroid gland 7.5% Polycystic ovaries 7.5% Recurrent fractures 7.5% Sarcoma 7.5% Testicular neoplasm 7.5% Visual impairment 7.5% Autosomal dominant inheritance - Basal ganglia calcification - Brachydactyly syndrome - Cataract - Choroid plexus calcification - Delayed eruption of teeth - Depressed nasal bridge - Elevated circulating parathyroid hormone (PTH) level - Full cheeks - Hypocalcemic tetany - Hypogonadism - Hypoplasia of dental enamel - Hypothyroidism - Intellectual disability - Low urinary cyclic AMP response to PTH administration - Nystagmus - Osteoporosis - Phenotypic variability - Pseudohypoparathyroidism - Seizures - Short finger - Short metacarpal - Short metatarsal - Short neck - Short stature - Short toe - Thickened calvaria - 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 Methylmalonic acidemia with homocystinuria, type cblC ? Answer:

What are the signs and symptoms of Methylmalonic acidemia with homocystinuria, type cblC? For both methylmalonic acidemia and methylmalonic acidemia with homocystinuria (MMA+HCU) cblC type signs and symptoms can vary from mild to life-threatening. There have been cases of MMA+HCU cblC type associated with mild symptoms and delayed age at onset (teen to adult years). In most cases however, signs and symptoms of MMA+HCU cblC type present in infancy. Even with early diagnosis and treatment, children with the condition tend to have symptoms affecting vision, growth, and learning. A recent study of 12 children with early onset MMA+HCU CblC type, diagnosed by newborn screening, and treated early with intramuscular hydroxocobalamin, oral betaine, folinic acid, l-carnitine, and dietary protein modification were reported to have developed the following symptoms: Mild to moderate low muscle tone (91%) Quick uncontrollable movements of the eye (nystagmus) with variable affect on vision (75%) Seizure (25%) Small head circumference (17%) Testing of communication, socialization, daily living skills, motor skills, and behavior showed mild to moderate delays in these areas for most children. Socialization was the least affected aspect of development. The Human Phenotype Ontology provides the following list of signs and symptoms for Methylmalonic acidemia with homocystinuria, type cblC. 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) Anorexia 90% Hydrocephalus 90% Megaloblastic anemia 90% Microcephaly 90% Pallor 90% Reduced consciousness/confusion 90% Retinopathy 90% Seizures 90% Infantile onset 50% Abnormality of extrapyramidal motor function - Autosomal recessive inheritance - Cerebral cortical atrophy - Confusion - Cystathioninemia - Cystathioninuria - Decreased adenosylcobalamin - Decreased methionine synthase activity - Decreased methylcobalamin - Decreased methylmalonyl-CoA mutase activity - Dementia - Failure to thrive - Feeding difficulties in infancy - Hematuria - Hemolytic-uremic syndrome - High forehead - Homocystinuria - Hyperhomocystinemia - Hypomethioninemia - Intellectual disability - Lethargy - Long face - Low-set ears - Macrotia - Metabolic acidosis - Methylmalonic acidemia - Methylmalonic aciduria - Muscular hypotonia - Nephropathy - Neutropenia - Nystagmus - Pigmentary retinopathy - Proteinuria - Reduced visual acuity - Renal insufficiency - Smooth philtrum - Thrombocytopenia - Thromboembolism - Tremor - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: How to prevent Kidney Disease of Diabetes ? Answer:

Blood Pressure Medicines Scientists have made great progress in developing methods that slow the onset and progression of kidney disease in people with diabetes. Drugs used to lower blood pressure can slow the progression of kidney disease significantly. Two types of drugs, 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 drugs to control their blood pressure. In addition to an ACE inhibitor or an ARB, a diuretic can also be useful. Beta blockers, calcium channel blockers, and other blood pressure drugs may also be needed. An example of an effective ACE inhibitor is lisinopril (Prinivil, Zestril), which doctors commonly prescribe for treating kidney disease of diabetes. The benefits of lisinopril extend beyond its ability to lower blood pressure: it may directly protect the kidneys' glomeruli. ACE inhibitors have lowered proteinuria and slowed deterioration even in people with diabetes who did not have high blood pressure. An example of an effective ARB is losartan (Cozaar), which has also been shown to protect kidney function and lower the risk of cardiovascular events. Patients with even mild hypertension or persistent microalbuminuria should consult a health care provider about the use of antihypertensive medicines. Moderate-protein Diets In people with diabetes, excessive consumption of protein may be harmful. Experts recommend that people with kidney disease of diabetes consume the recommended dietary allowance for protein, but avoid high-protein diets. For people with greatly reduced kidney function, a diet containing reduced amounts of protein may help delay the onset of kidney failure. Anyone following a reduced-protein diet should work with a dietitian to ensure adequate nutrition. Intensive Management of Blood Glucose Antihypertensive drugs and low-protein diets can slow CKD. A third treatment, known as intensive management of blood glucose or glycemic control, has shown great promise for people with diabetes, especially for those in the early stages of CKD. The human body normally converts food to glucose, the simple sugar that is the main source of energy for the body's cells. To enter cells, glucose needs the help of insulin, a hormone produced by the pancreas. When a person does not make enough insulin, or the body does not respond to the insulin that is present, the body cannot process glucose, and it builds up in the bloodstream. High levels of glucose in the blood lead to a diagnosis of diabetes. Intensive management of blood glucose is a treatment regimen that aims to keep blood glucose levels close to normal. The regimen includes testing blood glucose frequently, administering insulin throughout the day on the basis of food intake and physical activity, following a diet and activity plan, and consulting a health care team regularly. Some people use an insulin pump to supply insulin throughout the day. A number of studies have pointed to the beneficial effects of intensive management of blood glucose. In the Diabetes Control and Complications Trial supported by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), researchers found a 50 percent decrease in both development and progression of early diabetic kidney disease in participants who followed an intensive regimen for controlling blood glucose levels. The intensively managed patients had average blood glucose levels of 150 milligrams per deciliterabout 80 milligrams per deciliter lower than the levels observed in the conventionally managed patients. The United Kingdom Prospective Diabetes Study, conducted from 1976 to 1997, showed conclusively that, in people with improved blood glucose control, the risk of early kidney disease was reduced by a third. Additional studies conducted over the past decades have clearly established that any program resulting in sustained lowering of blood glucose levels will be beneficial to patients in the early stages of CKD.

Question: How to prevent Kidney Disease of Diabetes ? Answer:

Blood Pressure Medicines Scientists have made great progress in developing methods that slow the onset and progression of kidney disease in people with diabetes. Drugs used to lower blood pressure can slow the progression of kidney disease significantly. Two types of drugs, 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 drugs to control their blood pressure. In addition to an ACE inhibitor or an ARB, a diuretic can also be useful. Beta blockers, calcium channel blockers, and other blood pressure drugs may also be needed. An example of an effective ACE inhibitor is lisinopril (Prinivil, Zestril), which doctors commonly prescribe for treating kidney disease of diabetes. The benefits of lisinopril extend beyond its ability to lower blood pressure: it may directly protect the kidneys' glomeruli. ACE inhibitors have lowered proteinuria and slowed deterioration even in people with diabetes who did not have high blood pressure. An example of an effective ARB is losartan (Cozaar), which has also been shown to protect kidney function and lower the risk of cardiovascular events. Patients with even mild hypertension or persistent microalbuminuria should consult a health care provider about the use of antihypertensive medicines. Moderate-protein Diets In people with diabetes, excessive consumption of protein may be harmful. Experts recommend that people with kidney disease of diabetes consume the recommended dietary allowance for protein, but avoid high-protein diets. For people with greatly reduced kidney function, a diet containing reduced amounts of protein may help delay the onset of kidney failure. Anyone following a reduced-protein diet should work with a dietitian to ensure adequate nutrition. Intensive Management of Blood Glucose Antihypertensive drugs and low-protein diets can slow CKD. A third treatment, known as intensive management of blood glucose or glycemic control, has shown great promise for people with diabetes, especially for those in the early stages of CKD. The human body normally converts food to glucose, the simple sugar that is the main source of energy for the body's cells. To enter cells, glucose needs the help of insulin, a hormone produced by the pancreas. When a person does not make enough insulin, or the body does not respond to the insulin that is present, the body cannot process glucose, and it builds up in the bloodstream. High levels of glucose in the blood lead to a diagnosis of diabetes. Intensive management of blood glucose is a treatment regimen that aims to keep blood glucose levels close to normal. The regimen includes testing blood glucose frequently, administering insulin throughout the day on the basis of food intake and physical activity, following a diet and activity plan, and consulting a health care team regularly. Some people use an insulin pump to supply insulin throughout the day. A number of studies have pointed to the beneficial effects of intensive management of blood glucose. In the Diabetes Control and Complications Trial supported by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), researchers found a 50 percent decrease in both development and progression of early diabetic kidney disease in participants who followed an intensive regimen for controlling blood glucose levels. The intensively managed patients had average blood glucose levels of 150 milligrams per deciliterabout 80 milligrams per deciliter lower than the levels observed in the conventionally managed patients. The United Kingdom Prospective Diabetes Study, conducted from 1976 to 1997, showed conclusively that, in people with improved blood glucose control, the risk of early kidney disease was reduced by a third. Additional studies conducted over the past decades have clearly established that any program resulting in sustained lowering of blood glucose levels will be beneficial to patients in the early stages of CKD.

Question: What is (are) Oxygen Therapy ? Answer:

Oxygen therapy is a treatment that provides you with extra oxygen, a gas that your body needs to work well. Normally, your lungs absorb oxygen from the air. However, some diseases and conditions can prevent you from getting enough oxygen. Oxygen therapy may help you function better and be more active. Oxygen is supplied in a metal cylinder or other container. It flows through a tube and is delivered to your lungs in one of the following ways: Through a nasal cannula, which consists of two small plastic tubes, or prongs, that are placed in both nostrils. Through a face mask, which fits over your nose and mouth. Through a small tube inserted into your windpipe through the front of your neck. Your doctor will use a needle or small incision (cut) to place the tube. Oxygen delivered this way is called transtracheal oxygen therapy. Oxygen therapy can be done in a hospital, another medical setting, or at home. If you need oxygen therapy for a chronic (ongoing) disease or condition, you might receive home oxygen therapy. Overview To learn how oxygen therapy works, it helps to understand how your respiratory system works. This system is a group of organs and tissues that help you breathe. The respiratory system includes the airways and lungs. The airways carry oxygen-rich air to your lungs. They also carry carbon dioxide (a waste gas) out of your lungs. Air enters your body through your nose or mouth, which moistens and warms the air. The air then travels through your voice box and down your windpipe. The windpipe divides into two tubes called bronchi that enter your lungs. Within your lungs, your bronchi branch into thousands of smaller, thinner tubes called bronchioles (BRONG-ke-ols). These tubes end in bunches of tiny round air sacs called alveoli (al-VEE-uhl-eye). Each of the air sacs is covered in a mesh of tiny blood vessels called capillaries (KAP-ih-lare-ees). The capillaries connect to a network of arteries and veins that move blood throughout your body. When air reaches the air sacs, the oxygen in the air passes through the air sac walls into the blood in the capillaries. The oxygen-rich blood then travels to the heart through the pulmonary vein and its branches. The heart pumps the oxygen-rich blood to your organs. (For more information, go to the Health Topics How the Lungs Work article.) Certain acute (short-term) and chronic (ongoing) diseases and conditions can affect the transfer of oxygen from the alveoli into the blood. Examples include pneumonia (nu-MO-ne-ah) and COPD (chronic obstructive pulmonary disease). Your doctor will decide whether you need oxygen therapy based on the results of tests, such as an arterial blood gas test and a pulse oximetry test. These tests measure how much oxygen is in your blood. A low oxygen level is a sign that you need oxygen therapy. Oxygen is considered a medicine, so your doctor must prescribe it. Outlook Oxygen therapy helps many people function better and be more active. It also may help: Decrease shortness of breath and fatigue (tiredness) Improve sleep in some people who have sleep-related breathing disorders Increase the lifespan of some people who have COPD Although you may need oxygen therapy long term, it doesn't have to limit your daily routine. Portable oxygen units can make it easier for you to move around and do many daily activities. Talk with your doctor if you have questions about whether certain activities are safe for you. A home equipment provider will work with you to make sure you have the supplies and equipment you need. Trained staff also will show you how to use the equipment correctly and safely. Oxygen therapy generally is safe, but it can pose a fire hazard. To use your oxygen safely, follow the instructions you receive from your home equipment provider.

Question: What are the treatments for Restless Legs Syndrome ? Answer:

Restless legs syndrome (RLS) has no cure. If a condition or medicine triggers RLS, it may go away or get better if the trigger is relieved or stopped. RLS can be treated. The goals of treatment are to: Prevent or relieve symptoms Increase the amount of sleep you're getting and improve the quality of your sleep Treat or correct any underlying condition that may trigger or worsen RLS Mild cases of RLS often are treated with lifestyle changes and sometimes with periodic use of medicines. More severe RLS usually is treated with daily medicines. Lifestyle Changes Lifestyle changes can prevent or relieve the symptoms of RLS. For mild RLS, lifestyle changes may be the only treatment needed. Preventing Symptoms Many common substances, such as alcohol and tobacco, can trigger RLS symptoms. Avoiding these substances can limit or prevent symptoms. Some prescription and over-the-counter medicines can cause or worsen RLS symptoms. Tell your doctor about all of the medicines you're taking. He or she can tell you whether you should stop or change certain medicines. Adopting good sleep habits can help you fall asleep and stay asleepa problem for many people who have RLS. Good sleep habits include: Keeping the area where you sleep cool, quiet, comfortable, and as dark as possible. Making your bedroom sleep-friendly. Remove things that can interfere with sleep, such as a TV, computer, or phone. Going to bed and waking up at the same time every day. Some people who have RLS find it helpful to go to bed later in the evening and get up later in the morning. Avoiding staying in bed awake for long periods in the evening or during the night. Doing a challenging activity before bedtime, such as solving a crossword puzzle, may ease your RLS symptoms. This distraction may make it easier for you to fall asleep. Focusing on your breathing and using other relaxation techniques also may help you fall asleep. Regular, moderate physical activity also can help limit or prevent RLS symptoms. Often, people who have RLS find that if they increase their activity during the day, they have fewer symptoms. Relieving Symptoms Certain activities can relieve RLS symptoms. These include: Walking or stretching Taking a hot or cold bath Massaging the affected limb(s) Using heat or ice packs on the affected limb(s) Doing mentally challenging tasks Choose an aisle seat at the movies or on airplanes and trains so you can move around, if necessary. Medicines You may need medicines to treat RLS if lifestyle changes can't control symptoms. Many medicines can relieve or prevent RLS symptoms. No single medicine works for all people who have RLS. It may take several changes in medicines and dosages to find the best approach. Sometimes, a medicine will work for a while and then stop working. Some of the medicines used to treat RLS also are used to treat Parkinson's disease. These medicines make dopamine or mimic it in the parts of the brain that control movement. (Dopamine is a chemical that helps you move properly.) If medicines for Parkinson's disease don't prevent or relieve your symptoms, your doctor may prescribe other medicines. You may have to take more than one medicine to treat your RLS. Always talk with your doctor before taking any medicines. He or she can tell you the side effects of each RLS medicine. Side effects may include nausea (feeling sick to your stomach), headache, and daytime sleepiness. In some cases, RLS medicines may worsen problems with excessive gambling, shopping, or sexual activity. Sometimes, continued use of RLS medicines may make your RLS symptoms worse. Contact your doctor if you have any of these problems. He or she can adjust your medicines to prevent these side effects.

Question: What is (are) Atherosclerosis ? Answer:

Espaol Atherosclerosis is a disease in which plaque builds up inside your arteries. Arteries are blood vessels that carry oxygen-rich blood to your heart and other parts of your body. Plaque is made up of fat, cholesterol, calcium, and other substances found in the blood. Over time, plaque hardens and narrows your arteries. This limits the flow of oxygen-rich blood to your organs and other parts of your body. Atherosclerosis can lead to serious problems, including heart attack, stroke, or even death. Atherosclerosis Atherosclerosis-Related Diseases Atherosclerosis can affect any artery in the body, including arteries in the heart, brain, arms, legs, pelvis, and kidneys. As a result, different diseases may develop based on which arteries are affected. Coronary Heart Disease Coronary heart disease (CHD), also called coronary artery disease, occurs when plaque builds up in the coronary arteries. These arteries supply oxygen-rich blood to your heart. Plaque narrows the coronary arteries and reduces blood flow to your heart muscle. Plaque buildup also makes it more likely that blood clots will form in your arteries. Blood clots can partially or completely block blood flow. If blood flow to your heart muscle is reduced or blocked, you may have angina (chest pain or discomfort) or a heart attack. Plaque also can form in the heart's smallest arteries. This disease is called coronary microvascular disease (MVD). In coronary MVD, plaque doesn't cause blockages in the arteries as it does in CHD. Carotid Artery Disease Carotid (ka-ROT-id) artery disease occurs if plaque builds up in the arteries on each side of your neck (the carotid arteries). These arteries supply oxygen-rich blood to your brain. If blood flow to your brain is reduced or blocked, you may have a stroke. Peripheral Artery Disease Peripheral artery disease (P.A.D.) occurs if plaque builds up in the major arteries that supply oxygen-rich blood to your legs, arms, and pelvis. If blood flow to these parts of your body is reduced or blocked, you may have numbness, pain, and, sometimes, dangerous infections. Chronic Kidney Disease Chronic kidney disease can occur if plaque builds up in the renal arteries. These arteries supply oxygen-rich blood to your kidneys. Over time, chronic kidney disease causes a slow loss of kidney function. The main function of the kidneys is to remove waste and extra water from the body. Overview The cause of atherosclerosis isn't known. However, certain traits, conditions, or habits may raise your risk for the disease. These conditions are known as risk factors. You can control some risk factors, such as lack of physical activity, smoking, and an unhealthy diet. Others you can't control, such as age and a family history of heart disease. Some people who have atherosclerosis have no signs or symptoms. They may not be diagnosed until after a heart attack or stroke. The main treatment for atherosclerosis is lifestyle changes. You also may need medicines and medical procedures. These treatments, along with ongoing medical care, can help you live a healthier life. Outlook Improved treatments have reduced the number of deaths from atherosclerosis-related diseases. These treatments also have improved the quality of life for people who have these diseases. However, atherosclerosis remains a common health problem. You may be able to prevent or delay atherosclerosis and the diseases it can cause. Making lifestyle changes and getting ongoing care can help you avoid the problems of atherosclerosis and live a long, healthy life.

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

What are the signs and symptoms of Hurler syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hurler 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 tonsils 90% Anteverted nares 90% Cerebral palsy 90% Coarse facial features 90% Cognitive impairment 90% Depressed nasal bridge 90% Frontal bossing 90% Full cheeks 90% Hepatomegaly 90% Hernia 90% Hypertrichosis 90% Hypertrophic cardiomyopathy 90% Large face 90% Mucopolysacchariduria 90% Muscular hypotonia 90% Short neck 90% Sinusitis 90% Skeletal dysplasia 90% Splenomegaly 90% Thick eyebrow 90% Wide nasal bridge 90% Abnormality of epiphysis morphology 50% Abnormality of finger 50% Abnormality of the elbow 50% Abnormality of the ribs 50% Abnormality of the tongue 50% Dolichocephaly 50% Glaucoma 50% Hearing impairment 50% Hydrocephalus 50% Hypertension 50% Malabsorption 50% Opacification of the corneal stroma 50% Recurrent respiratory infections 50% Retinopathy 50% Scoliosis 50% Short stature 50% Sleep disturbance 50% Thick lower lip vermilion 50% C1-C2 subluxation 38% Abnormal pyramidal signs 7.5% Abnormality of skin pigmentation 7.5% Coronary artery disease 7.5% Decreased nerve conduction velocity 7.5% Hemiplegia/hemiparesis 7.5% Spinal canal stenosis 7.5% Retinal degeneration 5% Mitral regurgitation 10/12 Aortic regurgitation 4/12 Recurrent respiratory infections 4/12 Endocardial fibroelastosis 11/58 Abnormal CNS myelination - Autosomal recessive inheritance - Biconcave vertebral bodies - Broad nasal tip - Calvarial hyperostosis - Cardiomyopathy - Coxa valga - Diaphyseal thickening - Dysostosis multiplex - Flared iliac wings - Flexion contracture - Gingival overgrowth - Hepatosplenomegaly - Hirsutism - Hypoplasia of the femoral head - Hypoplasia of the odontoid process - Inguinal hernia - Intellectual disability - Joint stiffness - J-shaped sella turcica - Kyphosis - Macrocephaly - Microdontia - Neurodegeneration - Progressive neurologic deterioration - Short clavicles - Thick vermilion border - Umbilical hernia - 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 Buschke Ollendorff syndrome ? Answer:

What are the signs and symptoms of Buschke Ollendorff syndrome? Buschke Ollendorff syndrome (BOS) is an association of connective tissue nevi and osteopoikilosis (small, round areas of increased bone density). The nevi are typically present on the trunk, in the sacrolumbar region (lower back and sacrum), and on the extremities (arms and legs). Occasionally, they may be on the head. The nevi are usually nontender and firm, and are typically first noticeable as slightly elevated and flattened yellowish bumps, grouped together and forming plaques that may be several centimeters in diameter. The plaques are typically of irregular shape. They are usually numerous, painless, and develop over several years. The osteopoikilosis typically occurs in the long bones, wrist, foot, ankle, pelvis, and scapula. They are harmless and usually found by chance when radiographs are taken for other purposes, although pain and limited joint mobility have been reported in some individuals. In some individuals, only skin or bone manifestations may be present. Other signs and symptoms of BOS may include nasolacrimal duct obstruction, amblyopia ("lazy eye"), strabismus, benign lymphoid hyperplasia, hypopigmentation (abnormally light skin), and short stature. Congenital spinal stenosis (narrowing of the spine), disc herniation, clubfoot deformity, and nerve root compression may be present. Otosclerosis (abnormal growth of bone in the middle ear) with or without hearing loss may occur, but is rare. The Human Phenotype Ontology provides the following list of signs and symptoms for Buschke Ollendorff 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 localization of kidney 90% Abnormality of epiphysis morphology 90% Abnormality of the aorta 90% Abnormality of the metaphyses 90% Abnormality of the teeth 90% Abnormality of the voice 90% Bone pain 90% Generalized hypopigmentation 90% Hearing impairment 90% Hyperostosis 90% Increased bone mineral density 90% Microcephaly 90% Sarcoma 90% Short stature 90% Sinusitis 90% Skeletal dysplasia 90% Visual impairment 90% Mediastinal lymphadenopathy 50% Strabismus 50% Abnormal diaphysis morphology 7.5% Arthralgia 7.5% Arthritis 7.5% Atypical scarring of skin 7.5% Flexion contracture 7.5% Melanocytic nevus 7.5% Myalgia 7.5% Non-midline cleft lip 7.5% Palmoplantar keratoderma 7.5% Recurrent fractures 7.5% Type I diabetes mellitus 7.5% Autosomal dominant inheritance - Hoarse voice - Joint stiffness - Nevus - Osteopoikilosis - 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.