islamrokon/TrainDataset · Datasets at Hugging Face

What are the symptoms of Anemia of Inflammation and Chronic Disease ?

Anemia of inflammation and chronic disease typically develops slowly and, because it is usually mild, may cause few or no symptoms. Symptoms of anemia may also be masked by the symptoms of the underlying disease. Sometimes, AI/ACD can cause or contribute to - fatigue - weakness - pale skin - a fast heartbeat - shortness of breath - exercise intolerance

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What is (are) Aneurysms ?

An aneurysm is a bulge or "ballooning" in the wall of an artery. Arteries are blood vessels that carry oxygen-rich blood from the heart to other parts of the body. If an aneurysm grows large, it can burst and cause dangerous bleeding or even death. Most aneurysms occur in the aorta, the main artery that runs from the heart through the chest and abdomen. Aneurysms also can happen in arteries in the brain, heart and other parts of the body. If an aneurysm in the brain bursts, it causes a stroke. Aneurysms can develop and become large before causing any symptoms. Often doctors can stop aneurysms from bursting if they find and treat them early. They use imaging tests to find aneurysms. Often aneurysms are found by chance during tests done for other reasons. Medicines and surgery are the two main treatments for aneurysms. NIH: National Heart, Lung, and Blood Institute

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What is (are) Uterine Cancer ?

The uterus, or womb, is an important female reproductive organ. It is the place where a baby grows when a women is pregnant. There are different types of uterine cancer. The most common type starts in the endometrium, the lining of the uterus. This type of cancer is sometimes called endometrial cancer. The symptoms of uterine cancer include - Unusual vaginal bleeding or discharge - Trouble urinating - Pelvic pain - Pain during intercourse Uterine cancer usually occurs after menopause. Being obese and taking estrogen-alone hormone replacement therapy (also called menopausal hormone therapy) also increase your risk. Treatment varies depending on your overall health, how advanced the cancer is and whether hormones affect its growth. Treatment is usually a hysterectomy, which is surgery to remove the uterus. The ovaries and fallopian tubes are also removed. Other options include hormone therapy and radiation. NIH: National Cancer Institute

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What are the genetic changes related to autoimmune Addison disease ?

The cause of autoimmune Addison disease is complex and not completely understood. A combination of environmental and genetic factors plays a role in the disorder, and changes in multiple genes are thought to affect the risk of developing the condition. The genes that have been associated with autoimmune Addison disease participate in the body's immune response. The most commonly associated genes belong to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Each HLA gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. The most well-known risk factor for autoimmune Addison disease is a variant of the HLA-DRB1 gene called HLA-DRB1*04:04. This and other disease-associated HLA gene variants likely contribute to an inappropriate immune response that leads to autoimmune Addison disease, although the mechanism is unknown. Normally, the immune system responds only to proteins made by foreign invaders, not to the body's own proteins. In autoimmune Addison disease, however, an immune response is triggered by a normal adrenal gland protein, typically a protein called 21-hydroxylase. This protein plays a key role in producing certain hormones in the adrenal glands. The prolonged immune attack triggered by 21-hydroxylase damages the adrenal glands (specifically the outer layers of the glands known, collectively, as the adrenal cortex), preventing hormone production. A shortage of adrenal hormones (adrenal insufficiency) disrupts several normal functions in the body, leading to hypoglycemia, hyponatremia, hypotension, muscle cramps, skin hyperpigmentation and other features of autoimmune Addison disease. Rarely, Addison disease is not caused by an autoimmune reaction. Other causes include infections that damage the adrenal glands, such as tuberculosis, or tumors in the adrenal glands. Addison disease can also be one of several features of other genetic conditions, including X-linked adrenoleukodystrophy and autoimmune polyglandular syndrome, type 1, which are caused by mutations in other genes.

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What is (are) Mitochondrial DNA-associated Leigh syndrome ?

Mitochondrial DNA-associated Leigh syndrome is a progressive brain disorder that usually appears in infancy or early childhood. Affected children may experience vomiting, seizures, delayed development, muscle weakness, and problems with movement. Heart disease, kidney problems, and difficulty breathing can also occur in people with this disorder. Mitochondrial DNA-associated Leigh syndrome is a subtype of Leigh syndrome and is caused by changes in mitochondrial DNA. Mutations in at least 11 mitochondrial genes have been found to cause mtDNA-associated Leigh syndrome. This condition has an inheritance pattern known as maternal or mitochondrial inheritance. Because mitochondria can be passed from one generation to the next only through egg cells (not through sperm cells), only females pass mitochondrial DNA-associated Leigh syndrome to their children.

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What are the stages of AIDS-Related Lymphoma ?

Key Points - After AIDS-related lymphoma has been diagnosed, tests are done to find out if cancer cells have spread within the lymph system or to other parts of the body. - There are three ways that cancer spreads in the body. - Stages of AIDS-related lymphoma may include E and S. - The following stages are used for AIDS-related lymphoma: - Stage I - Stage II - Stage III - Stage IV - For treatment, AIDS-related lymphomas are grouped based on where they started in the body, as follows: - Peripheral/systemic lymphoma - Primary CNS lymphoma After AIDS-related lymphoma has been diagnosed, tests are done to find out if cancer cells have spread within the lymph system or to other parts of the body. The process used to find out if cancer cells have spread within the lymph system 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, but AIDS-related lymphoma is usually advanced when it is diagnosed. The following tests and procedures may be used in the staging process: - 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. The blood sample will be checked for the level of LDH (lactate dehydrogenase). - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the lung, lymph nodes, and liver, 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. - MRI (magnetic resonance imaging) with gadolinium : A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. 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). - Lumbar puncture : A procedure used to collect cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of the fluid. The sample of CSF is checked under a microscope for signs that the cancer has spread to the brain and spinal cord. The sample may also be checked for Epstein-Barr virus. This procedure is also called an LP or spinal tap. There are three ways that cancer spreads in the body. Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. Stages of AIDS-related lymphoma may include E and S. AIDS-related lymphoma may be described as follows: - E: "E" stands for extranodal and means the cancer is found in an area or organ other than the lymph nodes or has spread to tissues beyond, but near, the major lymphatic areas. - S: "S" stands for spleen and means the cancer is found in the spleen. The following stages are used for AIDS-related lymphoma: Stage I Stage I AIDS-related lymphoma is divided into stage I and stage IE. - Stage I: Cancer is found in one lymphatic area (lymph node group, tonsils and nearby tissue, thymus, or spleen). - Stage IE: Cancer is found in one organ or area outside the lymph nodes. Stage II Stage II AIDS-related lymphoma is divided into stage II and stage IIE. - Stage II: Cancer is found in two or more lymph node groups either above or below the diaphragm (the thin muscle below the lungs that helps breathing and separates the chest from the abdomen). - Stage IIE: Cancer is found in one or more lymph node groups either above or below the diaphragm. Cancer is also found outside the lymph nodes in one organ or area on the same side of the diaphragm as the affected lymph nodes. Stage III Stage III AIDS-related lymphoma is divided into stage III, stage IIIE, stage IIIS, and stage IIIE+S. - Stage III: Cancer is found in lymph node groups above and below the diaphragm (the thin muscle below the lungs that helps breathing and separates the chest from the abdomen). - Stage IIIE: Cancer is found in lymph node groups above and below the diaphragm and outside the lymph nodes in a nearby organ or area. - Stage IIIS: Cancer is found in lymph node groups above and below the diaphragm, and in the spleen. - Stage IIIE+S: Cancer is found in lymph node groups above and below the diaphragm, outside the lymph nodes in a nearby organ or area, and in the spleen. Stage IV In stage IV AIDS-related lymphoma, the cancer: - is found throughout one or more organs that are not part of a lymphatic area (lymph node group, tonsils and nearby tissue, thymus, or spleen) and may be in lymph nodes near those organs; or - is found in one organ that is not part of a lymphatic area and has spread to organs or lymph nodes far away from that organ; or - is found in the liver, bone marrow, cerebrospinal fluid (CSF), or lungs (other than cancer that has spread to the lungs from nearby areas). Patients who are infected with the Epstein-Barr virus or whose AIDS-related lymphoma affects the bone marrow have an increased risk of the cancer spreading to the central nervous system (CNS). For treatment, AIDS-related lymphomas are grouped based on where they started in the body, as follows: Peripheral/systemic lymphoma Lymphoma that starts in the lymph system or elsewhere in the body, other than the brain, is called peripheral/systemic lymphoma. It may spread throughout the body, including to the brain or bone marrow. It is often diagnosed in an advanced stage. Primary CNS lymphoma Primary CNS lymphoma starts in the central nervous system (brain and spinal cord). It is linked to the Epstein-Barr virus. Lymphoma that starts somewhere else in the body and spreads to the central nervous system is not primary CNS lymphoma.

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How many people are affected by sensorineural deafness and male infertility ?

The prevalence of sensorineural deafness and male infertility is unknown.

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What is (are) Arachnoiditis ?

Arachnoiditis describes a pain disorder caused by the inflammation of the arachnoid, one of the membranes that surround and protect the nerves of the spinal cord. The arachnoid can become inflamed because of an irritation from chemicals, infection from bacteria or viruses, as the result of direct injury to the spine, chronic compression of spinal nerves, or complications from spinal surgery or other invasive spinal procedures. Inflammation can sometimes lead to the formation of scar tissue and adhesions, which cause the spinal nerves to stick together. If arachnoiditis begins to interfere with the function of one or more of these nerves, it can cause a number of symptoms, including numbness, tingling, and a characteristic stinging and burning pain in the lower back or legs. Some people with arachnoiditis will have debilitating muscle cramps, twitches, or spasms. It may also affect bladder, bowel, and sexual function. In severe cases, arachnoiditis may cause paralysis of the lower limbs.

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What causes Heart Attack ?

Most heart attacks are caused by a blood clot that blocks one of the coronary arteries, the blood vessels that bring blood and oxygen to the heart muscle. When blood cannot reach part of your heart, that area starves for oxygen. If the blockage continues long enough, cells in the affected area die. The Most Common Cause Coronary heart disease (CHD)is the most common underlying cause of a heart attack. CHD, also called coronary artery disease, is the hardening and narrowing of the coronary arteries caused by the buildup of plaque inside the walls of the arteries. When plaque builds up in the arteries, the condition is called atherosclerosis (ath-er-o-skler-O-sis). The buildup of plaque occurs over many years. Over time, an area of plaque can rupture (break open) inside of an artery. This causes a blood clot to form on the plaque's surface. If the clot becomes large enough, it can mostly or completely block blood flow through a coronary artery. If the blockage isn't treated quickly, the portion of heart muscle fed by the artery begins to die. Healthy heart tissue is replaced with scar tissue. This heart damage may not be obvious, or it may cause severe or long-lasting problems. Other Causes Heart attack also can occur due to problems with the very small, microscopic blood vessels of the heart. This condition is called microvascular disease. It's believed to be more common in women than in men. A less common cause of heart attacks is a severe spasm or tightening of the coronary artery that cuts off blood flow to the heart. These spasms can occur in persons with or without coronary artery disease. What causes a coronary artery to spasm isn't always clear. A spasm may be related to emotional stress or pain, exposure to extreme cold, cigarette smoking, or by taking certain drugs like cocaine. Risk Factors You Cannot Change Certain factors make it more likely that you will develop coronary artery disease and have a heart attack. These risk factors include some things you cannot change. If you are a man over age 45 or a woman over age 55, you are at greater risk. Having a family history of early heart disease, diagnosed in a father or brother before age 55 or in a mother or sister before age 65, is another risk factor. You are also at risk if you have a personal history of angina or previous heart attack, or if you have had a heart procedure such as percutaneous coronary intervention (PCI) or coronary artery bypass surgery (CABG). Risk Factors You Can Change Importantly, there are many risk factors that you can change. These include - smoking - being overweight or obese - physical inactivity - high blood pressure - high blood cholesterol - high blood sugar due to insulin resistance or diabetes - an unhealthy diet (for example, a diet high in saturated fat, trans fat, cholesterol, and sodium). smoking being overweight or obese physical inactivity high blood pressure high blood cholesterol high blood sugar due to insulin resistance or diabetes an unhealthy diet (for example, a diet high in saturated fat, trans fat, cholesterol, and sodium). Metabolic Syndrome Some of these risk factorssuch as obesity, high blood pressure, and high blood sugartend to occur together. When they do, it's called metabolic syndrome. In general, a person with metabolic syndrome is twice as likely to develop heart disease and five times as likely to develop diabetes as someone without metabolic syndrome.

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what research (or clinical trials) is being done for Skin Cancer ?

New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Treatment for skin cancer may cause side effects. For information about side effects caused by treatment for cancer, see our Side Effects page. Patients may want to think about taking part in a clinical trial. For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. Patients can enter clinical trials before, during, or after starting their cancer treatment. Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.

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What is (are) Amyopathic dermatomyositis ?

Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typical skin findings without muscle weakness. Some of the skin changes that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair. While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included. Fatigue is reported in at least 50% of patients. Some cases have been associated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin.

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How to prevent Urinary Tract Infections ?

Changing some of these daily habits may help prevent urinary tract infections (UTIs). - Wipe from front to back after using the toilet. Women should wipe from front to back to keep bacteria from getting into the urethra. This step is most important after a bowel movement. Wipe from front to back after using the toilet. Women should wipe from front to back to keep bacteria from getting into the urethra. This step is most important after a bowel movement. - Drink lots of fluids, especially water. Fluids can help flush bacteria from the urinary system. Water is best. Most healthy people should try to drink six to eight, 8-ounce glasses of fluid each day. (Some people need to drink less water because of certain conditions. For example, if you have kidney failure or heart disease, you should not drink this much fluid. Ask your health care provider how much fluid is healthy for you.) Drink lots of fluids, especially water. Fluids can help flush bacteria from the urinary system. Water is best. Most healthy people should try to drink six to eight, 8-ounce glasses of fluid each day. (Some people need to drink less water because of certain conditions. For example, if you have kidney failure or heart disease, you should not drink this much fluid. Ask your health care provider how much fluid is healthy for you.) - Urinate often and when the urge arises. Try to urinate at least every 3 to 4 hours. Bacteria are more likely to grow in the bladder when urine stays in the bladder too long. Urinate often and when the urge arises. Try to urinate at least every 3 to 4 hours. Bacteria are more likely to grow in the bladder when urine stays in the bladder too long. - Urinate after sex. Both women and men should urinate shortly after sex to flush away bacteria that may have entered the urethra during sex. Urinate after sex. Both women and men should urinate shortly after sex to flush away bacteria that may have entered the urethra during sex. - Wear cotton underwear and loose-fitting clothes. Wearing looser, cotton clothing will allow air to keep the area around the urethra dry. Tight-fitting jeans and nylon underwear should be avoided because they can trap moisture and help bacteria grow. Wear cotton underwear and loose-fitting clothes. Wearing looser, cotton clothing will allow air to keep the area around the urethra dry. Tight-fitting jeans and nylon underwear should be avoided because they can trap moisture and help bacteria grow. Cranberry Juice Drinking cranberry juice or taking cranberry supplements may also help prevent UTIs. Some studies have shown that cranberry products make UTIs less likely, especially in people who get UTIs often. But in other studies, cranberry products did not help.

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What are the symptoms of Nail dysplasia, isolated congenital ?

What are the signs and symptoms of Nail dysplasia, isolated congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Nail dysplasia, isolated congenital. 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) Autosomal dominant inheritance - Concave nail - 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.

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How to prevent Kyasanur Forest Disease (KFD) ?

A vaccine does exist for KFD and is used in endemic areas of India. Additional preventative measures include insect repellents and wearing protective clothing in areas where ticks are endemic.

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What is (are) Proteus syndrome ?

Proteus syndrome is characterized by excessive growth of a part or portion of the body. The overgrowth can cause differences in appearance and with time, an increased risk for blood clots and tumors. It is caused by a change (mutation) in the AKT1 gene. It is not inherited, but occurs as a random mutation in a body cell in a developing baby (fetus) early in pregnancy. The AKT1 gene mutation affects only a portion of the body cells. This is why only a portion of the body is affected and why individuals with Proteus syndrome can be very differently affected. Management of the condition often requires a team of specialists with knowledge of the wide array of features and complications of this condition.

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What is the outlook for Adult Acute Myeloid Leukemia ?

Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on: - The age of the patient. - The subtype of AML. - Whether the patient received chemotherapy in the past to treat a different cancer. - Whether there is a history of a blood disorder such as myelodysplastic syndrome. - Whether the cancer has spread to the central nervous system. - Whether the cancer has been treated before or recurred (come back). It is important that acute leukemia be treated right away.

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What is (are) Medicare and Continuing Care ?

Some people think that Medicare and Medicaid are the same. Actually, they are two different programs. Medicaid is a state-run program that provides hospital and medical coverage for people with low income and little or no resources. Each state has its own rules about who is eligible and what is covered under Medicaid. Some people qualify for both Medicare and Medicaid. If you have questions about Medicaid, you can call your State Medical Assistance (Medicaid) office for more information. Visit http://www.medicare.gov on the web. (Under "Search Tools," select "Find Helpful Phone Numbers and Websites.") Or, call 1-800-Medicare (1-800-633-4227) to get the telephone number. TTY users should call 1-877-486-2048.

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Do you have information about Winter Weather Emergencies

Summary : Severe winter weather can lead to health and safety challenges. You may have to cope with - Cold related health problems, including frostbite and hypothermia - Household fires and carbon monoxide poisoning from space heaters and fireplaces - Unsafe driving conditions from icy roads - Power failures - Floods after snow and ice melt Although there are no guarantees of safety during winter weather emergencies, you can take actions to protect yourself. You should have a disaster plan. Being prepared can help reduce fear, anxiety and losses. If you do experience a disaster, it is normal to feel stressed. You may need help in finding ways to cope. Centers for Disease Control and Prevention

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Do you have information about Child Care

Summary : Children's healthy development depends on safe and positive experiences when they are very young. If you work or go to school, you want to know that your child is in good hands while you are away. You may choose in-home care, where the caregiver comes to your home. Or your child might go to the caregiver's home. Finally, there are child care centers. You need to choose the one that works for your family. It is important to get to know your child's caregivers. They will be a big part of your child's life. The caregiver's training should involve - Knowledge of how young children learn and grow - Positive, consistent discipline - Knowledge of the signs that a child is sick - Cleanliness and safety practices to help keep kids from getting sick or hurt - Basic first aid

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what research (or clinical trials) is being done for Myasthenia Gravis ?

Scientists are evaluating new and improving current treatments for myasthenia gravis. Different drugs are being tested, either alone or in combination with existing drug therapies, to see if they are effective in treating the disorder. One study seeks to understand the molecular basis of synaptic transmission in the nervous system. Thymectomy is being studied in individuals who do not have thymoma, to assess long-term benefit the surgery may have over medical therapy alone. And investigators are examining the safety and efficacy of autologous hematopoietic stem cell transplantation to treat refractory and severe myasthenia gravis.

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Do you have information about Cancer Chemotherapy

Summary : Normally, your cells grow and die in a controlled way. Cancer cells keep forming without control. Chemotherapy is drug therapy that can kill these cells or stop them from multiplying. However, it can also harm healthy cells, which causes side effects. During chemotherapy you may have no side effects or just a few. The kinds of side effects you have depend on the type and dose of chemotherapy you get. Side effects vary, but common ones are nausea, vomiting, tiredness, pain and hair loss. Healthy cells usually recover after chemotherapy, so most side effects gradually go away. Your course of therapy will depend on the cancer type, the chemotherapy drugs used, the treatment goal and how your body responds. You may get treatment every day, every week or every month. You may have breaks between treatments so that your body has a chance to build new healthy cells. You might take the drugs by mouth, in a shot or intravenously. NIH: National Cancer Institute

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What is (are) Prosopagnosia ?

Prosopagnosia is a neurological disorder characterized by the inability to recognize faces. Prosopagnosia is also known as face blindness or facial agnosia. The term prosopagnosia comes from the Greek words for face and lack of knowledge. Depending upon the degree of impairment, some people with prosopagnosia may only have difficulty recognizing a familiar face; others will be unable to discriminate between unknown faces, while still others may not even be able to distinguish a face as being different from an object. Some people with the disorder are unable to recognize their own face. Prosopagnosia is not related to memory dysfunction, memory loss, impaired vision, or learning disabilities. Prosopagnosia is thought to be the result of abnormalities, damage, or impairment in the right fusiform gyrus, a fold in the brain that appears to coordinate the neural systems that control facial perception and memory. Prosopagnosia can result from stroke, traumatic brain injury, or certain neurodegenerative diseases. In some cases it is a congenital disorder, present at birth in the absence of any brain damage. Congenital prosopagnosia appears to run in families, which makes it likely to be the result of a genetic mutation or deletion. Some degree of prosopagnosia is often present in children with autism and Aspergers syndrome, and may be the cause of their impaired social development.

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What are the symptoms of Spinocerebellar ataxia 23 ?

What are the signs and symptoms of Spinocerebellar ataxia 23? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 23. 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) Agenesis of corpus callosum 5% Tremor 5% Autosomal dominant inheritance - Babinski sign - Cerebellar atrophy - CNS demyelination - Dysarthria - Dysmetria - Gait ataxia - Hyperreflexia - Impaired vibration sensation in the lower limbs - Limb ataxia - Neuronal loss in central nervous system - Sensorimotor neuropathy - Slow progression - Slow saccadic eye movements - 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.

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What are the treatments for familial restrictive cardiomyopathy ?

These resources address the diagnosis or management of familial restrictive cardiomyopathy: - Genetic Testing Registry: Familial restrictive cardiomyopathy - Genetic Testing Registry: Familial restrictive cardiomyopathy 1 - Genetic Testing Registry: Familial restrictive cardiomyopathy 2 - Genetic Testing Registry: Familial restrictive cardiomyopathy 3 - Johns Hopkins Medicine: Cardiomyopathy/Heart Failure - MedlinePlus Encyclopedia: Restrictive Cardiomyopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care

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Who is at risk for Colorectal Cancer? ?

Scientists don't know exactly what causes colorectal cancer, but they have been able to identify some risk factors for the disease. A risk factor is anything that increases your chances of getting a disease. Studies show that the following risk factors may increase a person's chances of developing colorectal cancer: age, polyps, personal history, family history, and ulcerative colitis. Age Colorectal cancer is more likely to occur as people get older. It is more common in people over the age of 50, but younger people can get it, too. In rare cases, it can occur in adolescence. Polyps Polyps are benign, or non-cancerous, growths on the inner wall of the colon and rectum. They are fairly common in people over age 50. Some types of polyps increase a person's risk of developing colorectal cancer. Not all polyps become cancerous, but nearly all colon cancers start as polyps. Diet The link between diet and colorectal cancer is not firmly established. There is evidence that smoking cigarettes and drinking 3 or more alcoholic beverages daily may be associated with an increased risk of colorectal cancer. Personal History Research shows that women with a history of cancer of the ovary, uterus, or breast have a somewhat increased chance of developing colorectal cancer. Also, a person who has already had colorectal cancer may develop this disease a second time. Family History The parents, siblings, and children of a person who has had colorectal cancer are somewhat more likely to develop this type of cancer themselves. This is especially true if the relative had the cancer at a young age. If many family members have had colorectal cancer, the chances increase even more. Ulcerative colitis Ulcerative colitis is a condition in which there is a chronic break in the lining of the colon. Having this condition increases a person's chance of developing colorectal cancer. Genetic Mutations Researchers have identified genetic mutations, or abnormalities, that may be linked to the development of colon cancer. They are working to unravel the exact ways these genetic changes occur. Recent results from The Cancer Genome Atlas study of colorectal cancer point to several genes (BRAF and EGRF among others) that may increase risk. If You Have Risk Factors If you have one or more of these risk factors, it doesn't mean you will get colorectal cancer. It just increases the chances. You may wish to talk to your doctor about these risk factors. He or she may be able to suggest ways you can reduce your chances of developing colorectal cancer and plan an appropriate schedule for checkups.

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What are the treatments for Urinary Incontinence ?

Today, there are more treatments for urinary incontinence than ever before. The choice of treatment depends on the type of bladder control problem you have, how serious it is, and what best fits your lifestyle. As a general rule, the simplest and safest treatments should be tried first. Types of Treatments If lifestyle changes and bladder training dont help, your health care provider may suggest medical treatments. Medical treatments may include the following. - Medicines. If you have urgency urinary incontinence, your provider may prescribe a medicine to calm bladder muscles and nerves. These calming medicines help keep bladder muscles and nerves from making you urinate when youre not ready. Medicines for urgency urinary incontinence come as pills, liquid, creams, or patches. No medicines treat stress urinary incontinence. Medicines. If you have urgency urinary incontinence, your provider may prescribe a medicine to calm bladder muscles and nerves. These calming medicines help keep bladder muscles and nerves from making you urinate when youre not ready. Medicines for urgency urinary incontinence come as pills, liquid, creams, or patches. No medicines treat stress urinary incontinence. - Medical devices. Some women may be able to use a medical device to help prevent leaking. One medical device -- called a urethral insert -- blocks the urethra for a short time to prevent leaking when it is most likely to happen, such as during physical activity. Another device -- called a pessary -- is put in the vagina to help hold up the bladder if you have a prolapsed bladder or vagina (when the vagina or bladder has shifted out of place). Medical devices. Some women may be able to use a medical device to help prevent leaking. One medical device -- called a urethral insert -- blocks the urethra for a short time to prevent leaking when it is most likely to happen, such as during physical activity. Another device -- called a pessary -- is put in the vagina to help hold up the bladder if you have a prolapsed bladder or vagina (when the vagina or bladder has shifted out of place). - Nerve stimulation. Nerve stimulation sends mild electric current to the nerves around the bladder that help control urination. Sometimes nerve stimulation can be done at home, by placing an electrode in the vagina or anus. Or, it may require minor surgery to place an electrode under the skin on the leg or lower back. Nerve stimulation. Nerve stimulation sends mild electric current to the nerves around the bladder that help control urination. Sometimes nerve stimulation can be done at home, by placing an electrode in the vagina or anus. Or, it may require minor surgery to place an electrode under the skin on the leg or lower back. - Surgery. Sometimes surgery can help fix the cause of urinary incontinence. Surgery may give the bladder and urethra more support or help keep the urethra closed during coughing or sneezing. Surgery. Sometimes surgery can help fix the cause of urinary incontinence. Surgery may give the bladder and urethra more support or help keep the urethra closed during coughing or sneezing.

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What is (are) Breast Cancer ?

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

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What are the symptoms of Alopecia intellectual disability syndrome 2 ?

What are the signs and symptoms of Alopecia intellectual disability syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia intellectual disability 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) Alopecia universalis - Autosomal recessive inheritance - Intellectual disability - 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.

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What causes Primary Sclerosing Cholangitis ?

The causes of PSC are not known. Genes, immune system problems, bacteria, and viruses may play roles in the development of the disease. PSC is linked to inflammatory bowel disease (IBD). About three out of four people with PSC have a type of IBD called ulcerative colitis. The link between PSC and IBD is not yet understood.

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What is (are) leptin receptor deficiency ?

Leptin receptor deficiency is a condition that causes severe obesity beginning in the first few months of life. Affected individuals are of normal weight at birth, but they are constantly hungry and quickly gain weight. The extreme hunger leads to chronic excessive eating (hyperphagia) and obesity. Beginning in early childhood, affected individuals develop abnormal eating behaviors such as fighting with other children over food, hoarding food, and eating in secret. People with leptin receptor deficiency also have hypogonadotropic hypogonadism, which is a condition caused by reduced production of hormones that direct sexual development. Affected individuals experience delayed puberty or do not go through puberty, and may be unable to conceive children (infertile).

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What are the genetic changes related to Manitoba oculotrichoanal syndrome ?

Manitoba oculotrichoanal syndrome is caused by mutations in the FREM1 gene. The FREM1 gene provides instructions for making a protein that is involved in the formation and organization of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. The FREM1 protein is one of a group of proteins, including proteins called FRAS1 and FREM2, that interact during embryonic development as components of basement membranes. Basement membranes help anchor layers of cells lining the surfaces and cavities of the body (epithelial cells) to other embryonic tissues, including those that give rise to connective tissues such as skin and cartilage. The FREM1 gene mutations that have been identified in people with Manitoba oculotrichoanal syndrome delete genetic material from the FREM1 gene or result in a premature stop signal that leads to an abnormally short FREM1 protein. These mutations most likely result in a nonfunctional protein. Absence of functional FREM1 protein interferes with its role in embryonic basement membrane development and may also affect the location, stability, or function of the FRAS1 and FREM2 proteins. The features of Manitoba oculotrichoanal syndrome may result from the failure of neighboring embryonic tissues to fuse properly due to impairment of the basement membranes' anchoring function.

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Is Usher syndrome, type 1C inherited ?

How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition usually do not have any signs or symptoms. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to not be a carrier and not be affected.

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What are the symptoms of Gardner-Diamond syndrome ?

What are the signs and symptoms of Gardner-Diamond syndrome? People with Gardner-Diamond syndrome have reported that bruises occur either spontaneously or after trauma or surgery (even at other sites of the body). Some people are able to pinpoint exactly when the bruising occurred, while others are not. Episodes of bruising may begin with sensations such as burning, stinging or pain, and may be accompanied by a general feeling of malaise or fatigue. This may be followed by warmth, puffiness, redness and/or itching over the affected area. In some cases, episodes may also be accompanied by fever, headache, or gastrointestinal symptoms. Sometimes, pain and swelling is severe enough to cause immobilization of the affected body part. People have reported that the pain generally subsides when the bruises appear. Bruises typically go away in approximately 7-10 days. However, relapses and remissions of bruising episodes can last for many years. In some cases, symptoms of the condition persist and may worsen. Subsequent episodes are most likely to occur after some sort of physical trauma or stress.

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What are the symptoms of Kaplan Plauchu Fitch syndrome ?

What are the signs and symptoms of Kaplan Plauchu Fitch syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kaplan Plauchu Fitch syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of periauricular region 90% Abnormality of the fingernails 90% Abnormality of the metacarpal bones 90% Abnormality of the toenails 90% Anteverted nares 90% Cleft palate 90% Low-set, posteriorly rotated ears 90% Prominent nasal bridge 90% Proptosis 90% Ptosis 90% Short distal phalanx of finger 90% Short philtrum 90% Short stature 90% Tapered finger 90% Telecanthus 90% Triphalangeal thumb 90% Abnormality of the hip bone 50% Advanced eruption of teeth 50% Choanal atresia 50% Conductive hearing impairment 50% Craniosynostosis 50% Genu valgum 50% Hypertelorism 50% Lacrimation abnormality 50% Microcephaly 50% Myopia 50% Pectus excavatum 50% Sensorineural hearing impairment 50% Sloping forehead 50% Spina bifida occulta 50% Ulnar deviation of finger 50% Abnormal auditory evoked potentials - Abnormality of the vertebral column - Autosomal recessive inheritance - Hypotelorism - Oxycephaly - Preauricular pit - Short 1st metacarpal - Short first metatarsal - 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.

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What are the symptoms of Conductive deafness with malformed external ear ?

What are the signs and symptoms of Conductive deafness with malformed external ear? The Human Phenotype Ontology provides the following list of signs and symptoms for Conductive deafness with malformed external ear. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Conductive hearing impairment 90% Low-set, posteriorly rotated ears 90% Abnormality of the palate 50% Cognitive impairment 50% Overfolded helix 50% Atresia of the external auditory canal 7.5% Hernia of the abdominal wall 7.5% Preauricular skin tag 7.5% Sensorineural hearing impairment 7.5% Abnormality of the middle ear ossicles - Autosomal recessive inheritance - Hypogonadism - Intellectual disability - 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.

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How to diagnose Kyasanur Forest Disease (KFD) ?

Diagnosis can be made in the early stage of illness by molecular detection by PCR or virus isolation from blood. Later, serologic testing using enzyme-linked immunosorbent serologic assay (ELISA) can be performed.

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Who is at risk for Colon Cancer? ?

Health history affects the risk of developing colon cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk to your doctor if you think you may be at risk for colorectal cancer. Risk factors for colorectal cancer include the following: - Having a family history of colon or rectal cancer in a first-degree relative (parent, sibling, or child). - Having a personal history of cancer of the colon, rectum, or ovary. - Having a personal history of high-risk adenomas (colorectal polyps that are 1 centimeter or larger in size or that have cells that look abnormal under a microscope). - Having inherited changes in certain genes that increase the risk of familial adenomatous polyposis (FAP) or Lynch syndrome (hereditary nonpolyposis colorectal cancer). - Having a personal history of chronic ulcerative colitis or Crohn disease for 8 years or more. - Having three or more alcoholic drinks per day. - Smoking cigarettes. - Being black. - Being obese. Older age is a main risk factor for most cancers. The chance of getting cancer increases as you get older.

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What is (are) Thyroid Cancer ?

Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It makes hormones that help the body work normally. There are several types of cancer of the thyroid gland. You are at greater risk if you - Are between ages 25 and 65 - Are a woman - Are Asian - Have a family member who has had thyroid disease - Have had radiation treatments to your head or neck You should see a doctor if you have a lump or swelling in your neck. Doctors use a physical exam, blood tests, imaging tests, and a biopsy to diagnose thyroid cancer. Treatment depends on the type of cancer you have and how far the cancer has spread. Many patients receive a combination of treatments. They may include surgery, radioactive iodine, hormone treatment, radiation therapy, chemotherapy, or targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells. NIH: National Cancer Institute

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How many people are affected by myoclonic epilepsy with ragged-red fibers ?

MERRF is a rare condition; its prevalence is unknown. MERRF is part of a group of conditions known as mitochondrial disorders, which affect an estimated 1 in 5,000 people worldwide.

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Is Mixed connective tissue disease inherited ?

Is mixed connective tissue disease inherited? The role of genetics in the onset of mixed connective tissue disease (MCTD) is still unclear. Some people with MCTD have family members who are also affected by the condition. This suggests that in some cases, an inherited predisposition may contribute to the development of MCTD. People with an inherited or genetic predisposition have an increased risk of developing a certain condition due to their genes.

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Is iron-refractory iron deficiency anemia inherited ?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

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What are the treatments for Normal Pressure Hydrocephalus ?

Treatment for NPH involves surgical placement of a shunt in the brain to drain excess CSF into the abdomen where it can be absorbed as part of the normal circulatory process. This allows the brain ventricles to return to their normal size. Regular follow-up care by a physician is important in order to identify subtle changes that might indicate problems with the shunt.

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What are the treatments for Autoimmune Hepatitis ?

Treatment for autoimmune hepatitis includes medication to suppress, or slow down, an overactive immune system. Treatment may also include a liver transplant. Treatment works best when autoimmune hepatitis is diagnosed early. People with autoimmune hepatitis generally respond to standard treatment and the disease can be controlled in most cases. Long-term response to treatment can stop the disease from getting worse and may even reverse some damage to the liver. Medications People with autoimmune hepatitis who have no symptoms or a mild form of the disease may or may not need to take medication. A health care provider will determine if a person needs treatment. In some people with mild autoimmune hepatitis, the disease may go into remission. Remission is a period when a person is symptom-free and blood tests and liver biopsy show improvement in liver function. Corticosteroids. Corticosteroids are medications that decrease swelling and reduce the activity of the immune system. Health care providers treat both types of autoimmune hepatitis with a daily dose of a corticosteroid called prednisone. Treatment may begin with a high dose that is gradually lowered as the disease is controlled. The treatment goal is to find the lowest possible dose that helps control the disease. Side effects of prednisone may include - weight gain - weakness of the bones, called osteoporosis or osteomalacia - thinning of the hair and skin - acne - diabetes - high blood pressure - cataracts, a clouding in the lens of the eyes - glaucoma, elevated pressure in the eyes - anxiety and confusion A health care provider will closely monitor and manage any side effects that may occur, as high doses of prednisone are often prescribed to treat autoimmune hepatitis. Immune system suppressors. Medications that suppress the immune system prevent the body from making autoantibodies and block the immune reaction that contributes to inflammation. In most cases, health care providers use azathioprine (Azasan, Imuran) in conjunction with prednisone to treat autoimmune hepatitis. When using azathioprine, a health care provider can use a lower dose of prednisone, which may reduce prednisone's side effects. Side effects of azathioprine include - low white blood cell count - nausea - vomiting - skin rash - liver damage - pancreatitis, or inflammation of the pancreas Azathioprine is an immune system suppressor, so people taking the medication should undergo routine blood tests to monitor their white blood cell counts. A low white blood cell count can lead to bone marrow failure. Bone marrow is the tissue found inside bones that produces new blood cells, including platelets. A health care provider will also check the platelet count when blood tests are done. A person may need to discontinue prednisone or azathioprine if they cause severe side effects. The risk of side effects is higher in people who also have cirrhosis. A health care provider may gradually reduce the dose of medication in people who show improvement, although the symptoms can return. When a person discontinues treatment, a health care provider will perform routine blood tests and carefully monitor the person's condition for a return of symptoms. Treatment with low doses of prednisone or azathioprine may be necessary on and off for many years. People who do not respond to standard immune therapy or who have severe side effects from the medications may benefit from other immunosuppressive agents such as mycophenolate mofetil (CellCept), cyclosporine, or tacrolimus (Hecoria, Prograf). Medications that suppress the immune system may lead to various forms of cancer. People on low doses of azathioprine for long periods of time are at slight risk of developing cancer. Liver Transplant In some people, autoimmune hepatitis progresses to cirrhosis and end-stage liver failure, and a liver transplant may be necessary. Symptoms of cirrhosis and liver failure include the symptoms of autoimmune hepatitis and - generalized itching - a longer-than-usual amount of time for bleeding to stop - easy bruising - a swollen stomach or swollen ankles - spiderlike blood vessels, called spider angiomas, that develop on the skin - abdominal bloating due to an enlarged liver - fluid in the abdomenalso called ascites - forgetfulness or confusion Liver transplant is surgery to remove a diseased or an injured liver and replace it with a healthy one from another person, called a donor. A team of surgeons performs a liver transplant in a hospital. When possible, the patient fasts for 8 hours before the surgery. The patient stays in the hospital about 1 to 2 weeks to be sure the transplanted liver is functioning properly. The health care provider will monitor the patient for bleeding, infections, and signs of liver rejection. The patient will take prescription medications long term to prevent infections and rejection. Liver transplant surgery for autoimmune hepatitis is successful in most cases. More information is provided in the NIDDK health topic, Liver Transplantation.

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What are the symptoms of Martinez Monasterio Pinheiro syndrome ?

What are the signs and symptoms of Martinez Monasterio Pinheiro syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Martinez Monasterio Pinheiro 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 morphology 50% Carious teeth 50% Conductive hearing impairment 50% Finger syndactyly 50% Hypertelorism 50% Long palpebral fissure 50% Abnormal hair quantity 7.5% Urogenital fistula 7.5% Anal atresia 5% Autosomal dominant inheritance - Cleft upper lip - Clinodactyly - Conical tooth - Distichiasis - Ectropion of lower eyelids - Hypodontia - Small nail - 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.

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What are the symptoms of Congenital generalized lipodystrophy type 1 ?

What are the signs and symptoms of Congenital generalized lipodystrophy type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital generalized lipodystrophy 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) Acanthosis nigricans - Accelerated skeletal maturation - Acute pancreatitis - Autosomal recessive inheritance - Cirrhosis - Clitoromegaly - Cystic angiomatosis of bone - Decreased serum leptin - Generalized muscular appearance from birth - Hepatic steatosis - Hepatomegaly - Hirsutism - Hyperinsulinemia - Hypertriglyceridemia - Insulin-resistant diabetes mellitus at puberty - Labial hypertrophy - Large hands - Lipodystrophy - Long foot - Mandibular prognathia - Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) - Polycystic ovaries - Polyphagia - Prominent umbilicus - Splenomegaly - Tall stature - 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.

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What is (are) Chromosome 15q deletion ?

Chromosome 15q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 15. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 15q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.

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Is TK2-related mitochondrial DNA depletion syndrome, myopathic form inherited ?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

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What are the treatments for molybdenum cofactor deficiency ?

These resources address the diagnosis or management of molybdenum cofactor deficiency: - Genetic Testing Registry: Combined molybdoflavoprotein enzyme deficiency - Genetic Testing Registry: Molybdenum cofactor deficiency, complementation group A - Genetic Testing Registry: Molybdenum cofactor deficiency, complementation group B - Genetic Testing Registry: Molybdenum cofactor deficiency, complementation group C These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care

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What are the symptoms of Spastic paraplegia 6 ?

What are the signs and symptoms of Spastic paraplegia 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 6. 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) Tremor 5% Autosomal dominant inheritance - Babinski sign - Clonus - Degeneration of the lateral corticospinal tracts - Impaired vibration sensation in the lower limbs - Insidious onset - Lower limb muscle weakness - Lower limb spasticity - Pes cavus - Progressive - Seizures - Spastic gait - Spastic paraplegia - Urinary bladder sphincter dysfunction - Urinary incontinence - Urinary urgency - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

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How many people are affected by adenosine deaminase deficiency ?

Adenosine deaminase deficiency is very rare and is estimated to occur in approximately 1 in 200,000 to 1,000,000 newborns worldwide. This disorder is responsible for approximately 15 percent of SCID cases.

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Is propionic acidemia inherited ?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

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What is (are) osteopetrosis ?

Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Autosomal dominant osteopetrosis (ADO), which is also called Albers-Schnberg disease, is typically the mildest type of the disorder. Some affected individuals have no symptoms. In these people, the unusually dense bones may be discovered by accident when an x-ray is done for another reason. In affected individuals who develop signs and symptoms, the major features of the condition include multiple bone fractures, abnormal side-to-side curvature of the spine (scoliosis) or other spinal abnormalities, arthritis in the hips, and a bone infection called osteomyelitis. These problems usually become apparent in late childhood or adolescence. Autosomal recessive osteopetrosis (ARO) is a more severe form of the disorder that becomes apparent in early infancy. Affected individuals have a high risk of bone fracture resulting from seemingly minor bumps and falls. Their abnormally dense skull bones pinch nerves in the head and face (cranial nerves), often resulting in vision loss, hearing loss, and paralysis of facial muscles. Dense bones can also impair the function of bone marrow, preventing it from producing new blood cells and immune system cells. As a result, people with severe osteopetrosis are at risk of abnormal bleeding, a shortage of red blood cells (anemia), and recurrent infections. In the most severe cases, these bone marrow abnormalities can be life-threatening in infancy or early childhood. Other features of autosomal recessive osteopetrosis can include slow growth and short stature, dental abnormalities, and an enlarged liver and spleen (hepatosplenomegaly). Depending on the genetic changes involved, people with severe osteopetrosis can also have brain abnormalities, intellectual disability, or recurrent seizures (epilepsy). A few individuals have been diagnosed with intermediate autosomal osteopetrosis (IAO), a form of the disorder that can have either an autosomal dominant or an autosomal recessive pattern of inheritance. The signs and symptoms of this condition become noticeable in childhood and include an increased risk of bone fracture and anemia. People with this form of the disorder typically do not have life-threatening bone marrow abnormalities. However, some affected individuals have had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease called renal tubular acidosis. Rarely, osteopetrosis can have an X-linked pattern of inheritance. In addition to abnormally dense bones, the X-linked form of the disorder is characterized by abnormal swelling caused by a buildup of fluid (lymphedema) and a condition called anhydrotic ectodermal dysplasia that affects the skin, hair, teeth, and sweat glands. Affected individuals also have a malfunctioning immune system (immunodeficiency), which allows severe, recurrent infections to develop. Researchers often refer to this condition as OL-EDA-ID, an acronym derived from each of the major features of the disorder.

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How many people are affected by nonsyndromic holoprosencephaly ?

Nonsyndromic holoprosencephaly accounts for approximately 25 to 50 percent of all cases of holoprosencephaly, which affects an estimated 1 in 10,000 newborns.

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What are the treatments for Fanconi Bickel syndrome ?

How might Fanconi Bickel syndrome be treated? Management of Fanconi Bickel syndrome (FBS) generally focuses on the signs and symptoms of the condition. Treatment includes replacement of water and electrolytes, and vitamin D and phosphate supplements for prevention of hypophosphatemic rickets. Although there is limited data on the effectiveness of dietary treatment for this condition, it is recommended that affected individuals follow a galactose-restricted diabetic diet, with fructose as the main source of carbohydrate. Diet and supplements may alleviate some of the signs and symptoms of the condition but generally do not improve growth, resulting in short stature in adulthood.

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What is (are) Choroideremia ?

Choroideremia is a genetic condition that causes vision loss. This disorder typically affects males. The first symptom is usually impairment of night vision (night blindness), which can occur in childhood. People with this disorder also experience narrowing of the field of vision (tunnel vision) and decrease in the ability to see details (visual acuity). The vision problems are due to loss of cells in the retina (light sensitive part of the eye) and choroid (blood vessels in the eye). The vision issues tend to get worse over time and usually lead to blindness in late adulthood. The rate and degree of vision loss differs for each person. Choroideremia is caused by spelling mistakes (mutations) in the CHM gene and is inherited in an X-linked recessive pattern.

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What is (are) Vaginal Cancer ?

Vaginal cancer is a rare type of cancer. It is more common in women 60 and older. You are also more likely to get it if you have had a human papillomavirus (HPV) infection or if your mother took diethylstilbestrol (DES) when she was pregnant. Doctors prescribed DES in the 1950's to prevent miscarriages. You are also at higher risk if you have had abnormal cells in the vagina, cervix, or uterus. It often doesn't have early symptoms. However, see your doctor if you notice - Bleeding that is not your period - A vaginal lump - Pelvic pain A Pap test can find abnormal cells that may be cancer. Vaginal cancer can often be cured in its early stages. Treatment might include surgery, radiation therapy, and chemotherapy. NIH: National Cancer Institute

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What are the symptoms of Juvenile idiopathic arthritis ?

What are the signs and symptoms of Juvenile idiopathic arthritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile idiopathic arthritis. 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 temperature regulation 90% Arthralgia 90% Arthritis 90% Autoimmunity 90% Joint swelling 90% Skin rash 90% Mediastinal lymphadenopathy 50% Abdominal pain 7.5% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Hepatomegaly 7.5% Splenomegaly 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.

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Is Renal oncocytoma inherited ?

Is a renal oncocytoma inherited? Most renal oncocytomas are not inherited. They usually occur sporadically in people with no family history of tumors. However, in rare cases, they can occur in people with certain genetic syndromes such as tuberous sclerosis complex and Birt-Hogg-Dube syndrome. Both of these conditions are inherited in an autosomal dominant manner.

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What is (are) High Blood Cholesterol ?

What is Cholesterol? Cholesterol is a waxy, fat-like substance that your liver makes. It is also found in some foods that come from animals. Cholesterol is found in all parts of your body. It plays a vital role in your body. It makes hormones, helps you digest food, and supports the workings of all the cells in your body. But your liver makes all the cholesterol that your body needs to do this. Lipoproteins and Cholesterol Cholesterol circulates in your blood stream. But it's fatty while your blood is watery. Just like oil and water, the two do not mix. As a result, cholesterol travels through your bloodstream in small packages called lipoproteins. The packages are made of fat (lipids) on the inside and proteins on the outside. Two kinds of lipoproteins carry cholesterol through your bloodstream. It's important to have healthy levels of both: - low-density lipoproteins (LDL) - high-density lipoproteins (HDL). low-density lipoproteins (LDL) high-density lipoproteins (HDL). What Does LDL Cholesterol Do? Low-density lipoproteins (LDL) carry cholesterol to all the cells in your body, including the arteries that supply blood to your heart. LDL cholesterol is sometimes called bad cholesterol because it can build up in the walls of your arteries. The higher the level of LDL cholesterol in your blood, the greater your chances of getting heart disease. What Does HDL Cholesterol Do? High-density lipoproteins (HDL) carry cholesterol away from the cells in your body. HDL cholesterol is sometimes called good cholesterol because it helps remove cholesterol from your artery walls. The liver then removes the cholesterol from your body. The higher your HDL cholesterol level, the lower your chances of getting heart disease. If Your Blood Cholesterol Is Too High Too much cholesterol in your blood is called high blood cholesterol. It can be serious. It increases your chances of having a heart attack or getting heart disease. When the cholesterol level in your blood is too high, it can build up in the walls of your arteries. This buildup of cholesterol is called plaque. Plaque Buildup Can Lead to - Artherosclerosis. Over time, the plaque can build up so much that it narrows your arteries. This is called atherosclerosis, or hardening of the arteries. It can slow down or block the flow of blood to your heart. Artherosclerosis. Over time, the plaque can build up so much that it narrows your arteries. This is called atherosclerosis, or hardening of the arteries. It can slow down or block the flow of blood to your heart. - Coronary Heart Disease (CHD). Artherosclerosis can occur in blood vessels anywhere in your body, including the ones that bring blood to your heart, called the coronary arteries. If plaque builds up in these arteries, the blood may not be able to bring enough oxygen to the heart muscle. This is called coronary heart disease (CHD). Coronary Heart Disease (CHD). Artherosclerosis can occur in blood vessels anywhere in your body, including the ones that bring blood to your heart, called the coronary arteries. If plaque builds up in these arteries, the blood may not be able to bring enough oxygen to the heart muscle. This is called coronary heart disease (CHD). - Angina. The buildup of plaque can lead to chest pain called angina. Angina is a common symptom of CHD. It happens when the heart does not receive enough oxygen-rich blood from the lungs. Angina. The buildup of plaque can lead to chest pain called angina. Angina is a common symptom of CHD. It happens when the heart does not receive enough oxygen-rich blood from the lungs. - Heart Attack. Some plaques have a thin covering, so they may rupture or break open. A blood clot can then form over the plaque. A clot can block the flow of blood through the artery. This blockage can cause a heart attack. Heart Attack. Some plaques have a thin covering, so they may rupture or break open. A blood clot can then form over the plaque. A clot can block the flow of blood through the artery. This blockage can cause a heart attack. Lowering Cholesterol Can Affect Plaque Lowering your cholesterol level reduces your chances of plaque rupturing and causing a heart attack. It may also slow down, reduce, or even stop plaque from building up. And it reduces your chances of dying from heart disease. High blood cholesterol itself does not cause symptoms, so many people don't know that they have it. It is important to find out what your cholesterol numbers are because if you have high blood cholesterol, lowering it reduces your chances of getting heart disease or having a heart attack.

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What causes Systemic scleroderma ?

What causes systemic scleroderma? The exact, underlying cause of systemic sclerosis is unknown. The cause appears to involve some injury to the cells that line blood vessels, resulting in excessive activation of dermal connective tissue cells, called fibroblasts. Fibroblasts normally produce collagen and other proteins. Build-up of collagen in the skin and other organs causes the signs and symptoms of the condition. It is suspected that scleroderma may develop from a variety of factors, which may include: Abnormal immune or inflammatory activity Genetic susceptibility: while no specific genes are thought to cause scleroderma, certain genes (or combination of genes) may increase a person's risk to be affected. However, the condition is not passed directly from parents to children. Environmental triggers: suspected triggers may include infections; injury; drugs (e.g. vitamin K, cocaine, penicillamine, appetite suppressants and some chemotherapeutic agents); and chemicals (e.g. silica, organic solvents, pesticides, aliphatic hydrocarbons and epoxy resin). Hormones: because women develop scleroderma more often than men, researchers suspect that hormones may play a role. However, the role of female hormones has not been proven. Widespread scleroderma can also occur in association with other autoimmune diseases, including systemic lupus erythematosus and polymyositis.

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How many people are affected by lattice corneal dystrophy type I ?

Lattice corneal dystrophy type I is one of the most common disorders in a group of conditions that are characterized by protein deposits in the cornea (corneal dystrophies); however, it is still a rare condition. The prevalence of lattice corneal dystrophy type I is unknown.

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Do you have information about Molds

Summary : Molds are fungi that can be found both outdoors and indoors. They grow best in warm, damp and humid conditions. If you have damp or wet spots in your house, you will probably get mold. Molds can cause health problems. Inhaling or touching mold or mold spores may cause allergic reactions or asthma attacks in sensitive people. Molds can cause fungal infections. In addition, mold exposure may irritate your eyes, skin, nose, throat, and lungs. Centers for Disease Control and Prevention

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what research (or clinical trials) is being done for Transverse Myelitis ?

The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to transverse myelitis in its laboratories at the National Institutes of Health (NIH), and also supports additional transverse myelitis research through grants to major medical institutions across the country. Some studies focus on strategies to repair the spinal cord, including approaches using cell transplantation. The NINDS also funds researchers who are using animal models of spinal cord injury to study strategies for replacement or regeneration of spinal cord nerve cells. The knowledge gained from such research should lead to a greater knowledge of the mechanisms responsible for transverse myelitis and may ultimately provide a means to prevent and treat this disorder.

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Do you have information about Over-the-Counter Medicines

Summary : Over-the-counter (OTC) medicines are drugs you can buy without a prescription. Some OTC medicines relieve aches, pains and itches. Some prevent or cure diseases, like tooth decay and athlete's foot. Others help manage recurring problems, like migraines. In the United States, the Food and Drug Administration decides whether a medicine is safe enough to sell over-the-counter. Taking OTC medicines still has risks. Some interact with other medicines, supplements, foods or drinks. Others cause problems for people with certain medical conditions. If you're pregnant, talk to your health care provider before taking any medicines. It is important to take medicines correctly, and be careful when giving them to children. More medicine does not necessarily mean better. You should never take OTC medicines longer or in higher doses than the label recommends. If your symptoms don't go away, it's a clear signal that it's time to see your healthcare provider. Food and Drug Administration

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Do you have information about Internet Safety

Summary : For most kids and teens, technology is an important part of their lives. They browse the Web for information, use social networking sites, text, and chat. But there can also be dangers, and it is important for parents to monitor their children's use and teach them how to be safe online: - Never give out personal information, such as your full name, address, phone number, or school name - Tell an adult if any communication (chat, text, e-mail message) makes you feel threatened or uncomfortable - Never send sexually explicit photographs or messages - On social networking sites, use privacy controls and only friend people that you know Of course, some of this advice is good for adults, too.

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What are the symptoms of Keratosis follicularis dwarfism and cerebral atrophy ?

What are the signs and symptoms of Keratosis follicularis dwarfism and cerebral atrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratosis follicularis dwarfism and cerebral atrophy. 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% Cerebral cortical atrophy 90% Hyperkeratosis 90% Microcephaly 90% Short stature 90% Abnormality of the eyelashes 50% Aplasia/Hypoplasia of the eyebrow 50% Absent eyebrow - Absent eyelashes - Cerebral atrophy - Death in childhood - Generalized keratosis follicularis - Severe short stature - 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.

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What are the symptoms of Acinetobacter in Healthcare Settings ?

Acinetobacter causes a variety of diseases, ranging from pneumonia to serious blood or wound infections, and the symptoms vary depending on the disease. Acinetobacter may also “colonize” or live in a patient without causing infection or symptoms, especially in tracheostomy sites or open wounds.

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what research (or clinical trials) is being done for Childhood Soft Tissue Sarcoma ?

New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Gene therapy Gene therapy is being studied for childhood synovial sarcoma that has recurred, spread, or cannot be removed by surgery. Some of the patient's T cells (a type of white blood cell) are removed and the genes in the cells are changed in a laboratory (genetically engineered) so that they will attack specific cancer cells. They are then given back to the patient by infusion. Patients may want to think about taking part in a clinical trial. For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. Patients can enter clinical trials before, during, or after starting their cancer treatment. Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.

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What is (are) Peutz-Jeghers syndrome ?

Peutz-Jeghers syndrome is characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines) and a greatly increased risk of developing certain types of cancer. Children with Peutz-Jeghers syndrome often develop small, dark-colored spots on the lips, around and inside the mouth, near the eyes and nostrils, and around the anus. These spots may also occur on the hands and feet. They appear during childhood and often fade as the person gets older. In addition, most people with Peutz-Jeghers syndrome develop multiple polyps in the stomach and intestines during childhood or adolescence. Polyps can cause health problems such as recurrent bowel obstructions, chronic bleeding, and abdominal pain. People with Peutz-Jeghers syndrome have a high risk of developing cancer during their lifetimes. Cancers of the gastrointestinal tract, pancreas, cervix, ovary, and breast are among the most commonly reported tumors.

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What are the treatments for Varicose Veins ?

Varicose veins are treated with lifestyle changes and medical procedures. The goals of treatment are to relieve symptoms, prevent complications, and improve appearance. If varicose veins cause few symptoms, your doctor may simply suggest making lifestyle changes. If your symptoms are more severe, your doctor may recommend one or more medical procedures. For example, you may need a medical procedure if you have a lot of pain, blood clots, or skin disorders caused by your varicose veins. Some people who have varicose veins choose to have procedures to improve how their veins look. Although treatment can help existing varicose veins, it can't keep new varicose veins from forming. Lifestyle Changes Lifestyle changes often are the first treatment for varicose veins. These changes can prevent varicose veins from getting worse, reduce pain, and delay other varicose veins from forming. Lifestyle changes include the following: Avoid standing or sitting for long periods without taking a break. When sitting, avoid crossing your legs. Keep your legs raised when sitting, resting, or sleeping. When you can, raise your legs above the level of your heart. Do physical activities to get your legs moving and improve muscle tone. This helps blood move through your veins. If you're overweight or obese, try to lose weight. This will improve blood flow and ease the pressure on your veins. Avoid wearing tight clothes, especially those that are tight around your waist, groin (upper thighs), and legs. Tight clothes can make varicose veins worse. Avoid wearing high heels for long periods. Lower heeled shoes can help tone your calf muscles. Toned muscles help blood move through the veins. Your doctor may recommend compression stockings. These stockings create gentle pressure up the leg. This pressure keeps blood from pooling and decreases swelling in the legs. There are three types of compression stockings. One type is support pantyhose. These offer the least amount of pressure. A second type is over-the-counter compression hose. These stockings give a little more pressure than support pantyhose. Over-the-counter compression hose are sold in medical supply stores and pharmacies. Prescription-strength compression hose are the third type of compression stockings. These stockings offer the greatest amount of pressure. They also are sold in medical supply stores and pharmacies. However, you need to be fitted for them in the store by a specially trained person. Medical Procedures Medical procedures are done either to remove varicose veins or to close them. Removing or closing varicose veins usually doesn't cause problems with blood flow because the blood starts moving through other veins. You may be treated with one or more of the procedures described below. Common side effects right after most of these procedures include bruising, swelling, skin discoloration, and slight pain. The side effects are most severe with vein stripping and ligation (li-GA-shun). Rarely, this procedure can cause severe pain, infections, blood clots, and scarring. Sclerotherapy Sclerotherapy (SKLER-o-ther-ah-pe) uses a liquid chemical to close off a varicose vein. The chemical is injected into the vein to cause irritation and scarring inside the vein. The irritation and scarring cause the vein to close off, and it fades away. This procedure often is used to treat smaller varicose veins and spider veins. It can be done in your doctor's office, while you stand. You may need several treatments to completely close off a vein. Treatments typically are done every 4 to 6 weeks. Following treatments, your legs will be wrapped in elastic bandaging to help with healing and decrease swelling. Microsclerotherapy Microsclerotherapy (MI-kro-SKLER-o-ther-ah-pe) is used to treat spider veins and other very small varicose veins. A small amount of liquid chemical is injected into a vein using a very fine needle. The chemical scars the inner lining of the vein, causing it to close off. Laser Surgery This procedure applies light energy from a laser onto a varicose vein. The laser light makes the vein fade away. Laser surgery mostly is used to treat smaller varicose veins. No cutting or injection of chemicals is involved. Endovenous Ablation Therapy Endovenous ablation (ab-LA-shun) therapy uses lasers or radiowaves to create heat to close off a varicose vein. Your doctor makes a tiny cut in your skin near the varicose vein. He or she then inserts a small tube called a catheter into the vein. A device at the tip of the tube heats up the inside of the vein and closes it off. You'll be awake during this procedure, but your doctor will numb the area around the vein. You usually can go home the same day as the procedure. Endoscopic Vein Surgery For endoscopic (en-do-SKOP-ik) vein surgery, your doctor will make a small cut in your skin near a varicose vein. He or she then uses a tiny camera at the end of a thin tube to move through the vein. A surgical device at the end of the camera is used to close the vein. Endoscopic vein surgery usually is used only in severe cases when varicose veins are causing skin ulcers (sores). After the procedure, you usually can return to your normal activities within a few weeks. Ambulatory Phlebectomy For ambulatory phlebectomy (fle-BEK-to-me), your doctor will make small cuts in your skin to remove small varicose veins. This procedure usually is done to remove the varicose veins closest to the surface of your skin. You'll be awake during the procedure, but your doctor will numb the area around the vein. Usually, you can go home the same day that the procedure is done. Vein Stripping and Ligation Vein stripping and ligation typically is done only for severe cases of varicose veins. The procedure involves tying shut and removing the veins through small cuts in your skin. You'll be given medicine to temporarily put you to sleep so you don't feel any pain during the procedure. Vein stripping and ligation usually is done as an outpatient procedure. The recovery time from the procedure is about 1 to 4 weeks.

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What is (are) Heparin-induced thrombocytopenia ?

Heparin-induced thrombocytopenia (HIT) is an adverse reaction to the drug heparin resulting in an abnormally low amount of platelets (thrombocytopenia). HIT is usually an immune response which typically occurs 4-10 days after exposure to heparin; it can lead to serious complications and be life-threatening. This condition occurs in up to 5% of those who are exposed to heparin. Characteristic signs of HIT are a drop in platelet count of greater than 50% and/or the formation of new blood clots during heparin therapy. The first step of treatment is to discontinue and avoid all heparin products immediately. Often, affected individuals require another medicine to prevent blood clotting (anticoagulants).

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What is (are) Catecholaminergic polymorphic ventricular tachycardia ?

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic disorder that causes an abnormally fast and irregular heart rhythm in response to physical activity or emotional stress. Signs and symptoms include light-headedness, dizziness, and fainting. Symptoms most often develop between 7 to 9 years of age. If untreated CPVT can cause a heart attack and death. CPVT is caused by mutations in the RYR2 or CASQ2 genes. When a RYR2 gene mutation is involved, the condition is passed through families in an autosomal dominant fashion. When CASQ2 gene mutations are involved, the condition is inherited in an autosomal recessive fashion. In some cases the underlying cause can not be determined. Beta blockers are used to treat CPVT. An Implantable Cardioverter Defibrillator (ICD) may also be needed.

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What are the treatments for Prune belly syndrome ?

How might prune belly syndrome be treated? The initial evaluation of the newborn with prune belly syndrome requires a team consisting of a neonatologist, nephrologist, urologist and in some cases other specialists (e.g., cardiologist) as well. Treatment options depend on the child's age, health, medical history, extend of disease, tolerance for certain treatments or procedures, the expected course of the disease, and the parent's and/or guardian's opinions and preferences.[832] In general, surgery may be done to repair abdominal muscle, genital, and bladder problems. Antibiotics may be given to infants to treat or prevent urinary tract infections. Timing of therapy may vary from patient to patient. To learn more about your childs specific treatment options we recommend that you speak to her healthcare provider.

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Is Sheldon-Hall syndrome inherited ?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about 50 percent of cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

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What are the genetic changes related to familial cold autoinflammatory syndrome ?

Mutations in the NLRP3 and NLRP12 genes cause familial cold autoinflammatory syndrome. The NLRP3 gene (also known as CIAS1) provides instructions for making a protein called cryopyrin, and the NLRP12 gene provides instructions for making the protein monarch-1. Cryopyrin and monarch-1 belong to a family of proteins called nucleotide-binding domain and leucine-rich repeat containing (NLR) proteins. These proteins are involved in the immune system, helping to regulate the process of inflammation. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair. When this has been accomplished, the body stops (inhibits) the inflammatory response to prevent damage to its own cells and tissues. Cryopyrin is involved in the assembly of a molecular complex called an inflammasome, which helps start the inflammatory process. Mutations in the NLRP3 gene result in a hyperactive cryopyrin protein that inappropriately triggers an inflammatory response. Monarch-1 is involved in the inhibition of the inflammatory response. Mutations in the NLRP12 gene appear to reduce the ability of the monarch-1 protein to inhibit inflammation. Impairment of the body's mechanisms for controlling inflammation results in the episodes of skin rash, fever, and joint pain seen in familial cold autoinflammatory syndrome. It is unclear why episodes are triggered by cold exposure in this disorder.

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What are the symptoms of Idiopathic CD4 positive T-lymphocytopenia ?

What are the signs and symptoms of Idiopathic CD4 positive T-lymphocytopenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic CD4 positive T-lymphocytopenia. 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) Autosomal dominant inheritance - Bronchiolitis obliterans organizing pneumonia - Immunodeficiency - Lymphopenia - Recurrent otitis media - Recurrent sinusitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

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What is (are) Congenital hypothyroidism ?

Congenital hypothyroidism is a condition that affects infants from birth and results from a partial or complete loss of thyroid function (hypothyroidism). The thyroid gland makes hormones that play an important role in regulating growth, brain development, and metabolism in the body. Congenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In the United States and many other countries, all newborns are tested for congenital hypothyroidism as part of newborn screening. If untreated, congenital hypothyroidism can lead to intellectual disability and abnormal growth. If treatment begins in the first month after birth, infants usually develop normally. Treatment involves medication to replace the missing thyroid hormones, such as levothyroxine. Most cases of congenital hypothyroidism occur in people with no history of the disorder in their family. About 15-20% of cases are due to an underlying gene mutation. Rarely, congenital hypothyroidism can be a symptom included in a larger genetic disorder called a syndrome.

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What causes Chromosome 3p- syndrome ?

What causes chromosome 3p- syndrome? In most people with chromosome 3p- syndrome, the deletion occurs as a new mutation (called a de novo mutation) and is not inherited from a parent. De novo mutations are due to a random error that occurs during the formation of egg or sperm cells, or shortly after conception. In a few cases, the deletion is inherited from a parent.

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What are the treatments for Antiphospholipid Antibody Syndrome ?

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

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What are the treatments for McLeod neuroacanthocytosis syndrome ?

These resources address the diagnosis or management of McLeod neuroacanthocytosis syndrome: - Gene Review: Gene Review: McLeod Neuroacanthocytosis Syndrome - Genetic Testing Registry: McLeod neuroacanthocytosis syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care

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What causes EEC syndrome ?

What causes EEC syndrome? Approximately 90% of individuals with EEC syndrome have a causative mutation identified in the TP63 gene. The TP63 gene codes for the p63 protein, which plays a critical role in early development of the ectoderm-the layers of tissue that develop into the skin, hair, teeth, and nails. The p63 protein is additionally thought to play a role in the development of the limbs, facial features, urinary system, and other organs. Individuals that have EEC syndrome due to a mutation in the TP63 gene are classified as having EEC syndrome type 3 (EEC3). In approximately 10% of individuals, EEC syndrome is caused by a mutation on a region of the q (long) arm of chromosome 7. Individuals that have EEC syndrome due to a mutation on the q arm of chromosome 7 are classified as having EEC syndrome type 1 (EEC1). Rarely, EEC syndrome can be found in individuals that do not have mutations in either the TP63 gene or the q arm of chromosome 7.

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What are the symptoms of Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy ?

What are the signs and symptoms of Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy. 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) Areflexia - Autosomal recessive inheritance - Broad-based gait - Distal muscle weakness - Distal sensory impairment - Distal upper limb amyotrophy - Gait ataxia - Joint contracture of the hand - Optic atrophy - Pectus excavatum - Peripheral demyelination - Positive Romberg sign - Progressive sensorineural hearing impairment - Short thumb - Thoracic scoliosis - Ulnar deviation of the hand - Variable expressivity - 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.

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What are the symptoms of Pachygyria with mental retardation and seizures ?

What are the signs and symptoms of Pachygyria with mental retardation and seizures? The Human Phenotype Ontology provides the following list of signs and symptoms for Pachygyria with mental retardation and seizures. 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% Seizures 90% Premature birth 50% Abnormality of the skeletal system - Arachnoid cyst - Atypical absence seizures - Autosomal recessive inheritance - Generalized tonic-clonic seizures - Intellectual disability - Pachygyria - Profound static encephalopathy - 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.

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Who is at risk for Skin Cancer? ?

Key Points - Avoiding risk factors and increasing protective factors may help prevent cancer. - Being exposed to ultraviolet radiation is a risk factor for skin cancer. - It is not known if the following lower the risk of nonmelanoma skin cancer: - Sunscreen use and avoiding sun exposure - Chemopreventive agents - It is not known if the following lower the risk of melanoma: - Sunscreen - Counseling and protecting the skin from the sun - Cancer prevention clinical trials are used to study ways to prevent cancer. - New ways to prevent skin cancer are being studied in clinical trials. Avoiding risk factors and increasing protective factors may help prevent cancer. Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. Talk to your doctor or other health care professional about how you might lower your risk of cancer. Being exposed to ultraviolet radiation is a risk factor for skin cancer. Some studies suggest that being exposed to ultraviolet (UV) radiation and the sensitivity of a persons skin to UV radiation are risk factors for skin cancer. UV radiation is the name for the invisible rays that are part of the energy that comes from the sun. Sunlamps and tanning beds also give off UV radiation. Risk factors for nonmelanoma and melanoma cancers are not the same. - Risk factors for nonmelanoma skin cancer: - Being exposed to natural sunlight or artificial sunlight (such as from tanning beds) over long periods of time. - Having a fair complexion, which includes the following: - Fair skin that freckles and burns easily, does not tan, or tans poorly. - Blue or green or other light-colored eyes. - Red or blond hair. - Having actinic keratosis. - Past treatment with radiation. - Having a weakened immune system. - Being exposed to arsenic. - Risk factors for melanoma skin cancer: - Having a fair complexion, which includes the following: - Fair skin that freckles and burns easily, does not tan, or tans poorly. - Blue or green or other light-colored eyes. - Red or blond hair. - Being exposed to natural sunlight or artificial sunlight (such as from tanning beds) over long periods of time. - Having a history of many blistering sunburns, especially as a child or teenager. - Having several large or many small moles. - Having a family history of unusual moles (atypical nevus syndrome). - Having a family or personal history of melanoma. - Being white. It is not known if the following lower the risk of nonmelanoma skin cancer: Sunscreen use and avoiding sun exposure It is not known if nonmelanoma skin cancer risk is decreased by staying out of the sun, using sunscreens, or wearing protective clothing when outdoors. This is because not enough studies have been done to prove this. Sunscreen may help decrease the amount of UV radiation to the skin. One study found that wearing sunscreen can help prevent actinic keratoses, scaly patches of skin that sometimes become squamous cell carcinoma. The harms of using sunscreen are likely to be small and include allergic reactions to skin creams and lower levels of vitamin D made in the skin because of less sun exposure. It is also possible that when a person uses sunscreen to avoid sunburn they may spend too much time in the sun and be exposed to harmful UV radiation. Although protecting the skin and eyes from the sun has not been proven to lower the chance of getting skin cancer, skin experts suggest the following: - Use sunscreen that protects against UV radiation. - Do not stay out in the sun for long periods of time, especially when the sun is at its strongest. - Wear long sleeve shirts, long pants, sun hats, and sunglasses, when outdoors. Chemopreventive agents Chemoprevention is the use of drugs, vitamins, or other agents to try to reduce the risk of cancer. The following chemopreventive agents have been studied to find whether they lower the risk of nonmelanoma skin cancer: Beta carotene Studies of beta carotene (taken as a supplement in pills) have not shown that it prevents nonmelanoma skin cancer from forming or coming back. Isotretinoin High doses of isotretinoin have been shown to prevent new skin cancers in patients with xeroderma pigmentosum. However, isotretinoin has not been shown to prevent nonmelanoma skin cancers from coming back in patients previously treated for nonmelanoma skin cancers. Treatment with isotretinoin can cause serious side effects. Selenium Studies have shown that selenium (taken in brewer's yeast tablets) does not lower the risk of basal cell carcinoma, and may increase the risk of squamous cell carcinoma. Celecoxib A study of celecoxib in patients with actinic keratosis and a history of nonmelanoma skin cancer found those who took celecoxib had slightly lower rates of recurrent nonmelanoma skin cancers. Celecoxib may have serious side effects on the heart and blood vessels. Alpha-difluoromethylornithine (DFMO) A study of alpha-difluoromethylornithine (DFMO) in patients with a history of nonmelanoma skin cancer showed that those who took DFMO had lower rates of nonmelanoma skin cancers coming back than those who took a placebo. DFMO may cause hearing loss which is usually temporary. Nicotinamide (vitamin B3) Studies have shown that nicotinamide (vitamin B3) helps prevent new actinic keratoses lesions from forming in people who had four or fewer actinic lesions before taking nicotinamide. More studies are needed to find out if nicotinamide prevents nonmelanoma skin cancer from forming or coming back. It is not known if the following lower the risk of melanoma: Sunscreen It has not been proven that using sunscreen to prevent sunburn can protect against melanoma caused by UV radiation. Other risk factors such as having skin that burns easily, having a large number of benign moles, or having atypical nevi may also play a role in whether melanoma forms. Counseling and protecting the skin from the sun It is not known if people who receive counseling or information about avoiding sun exposure make changes in their behavior to protect their skin from the sun.

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what research (or clinical trials) is being done for Wernicke-Korsakoff Syndrome ?

The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS supports research on neurological disorders such as Wernicke's encephalopathy, Korsakoff's amnesic syndrome, and Wernicke-Korsakoff syndrome, to expand our understanding of the functional changes of the diseases and ways to treat them..One areas of research is studying how exercise can improve cognitive functioning based on modulation of certain nerve cells in a rodent model of amnesia produced by by thiamine deficiency. The National Institute of Alcohol Abuse and Alcoholism also supports research on these disorders.

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Is Congenital contractural arachnodactyly inherited ?

How is congenital contractural arachnodactyly inherited? This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from an affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

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What are the genetic changes related to autosomal recessive primary microcephaly ?

MCPH can result from mutations in at least seven genes. Mutations in the ASPM gene are the most common cause of the disorder, accounting for about half of all cases. The genes associated with MCPH play important roles in early brain development, particularly in determining brain size. Studies suggest that the proteins produced from many of these genes help regulate cell division in the developing brain. Mutations in any of the genes associated with MCPH impair early brain development. As a result, affected infants have fewer nerve cells (neurons) than normal and are born with an unusually small brain. The reduced brain size underlies the small head size, intellectual disability, and developmental delays seen in many affected individuals.

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What are the symptoms of Jensen syndrome ?

What are the signs and symptoms of Jensen syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Jensen 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) Blindness - Cerebral calcification - Dementia - Generalized amyotrophy - Infantile sensorineural hearing impairment - Optic atrophy - 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.

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What is (are) Canavan disease ?

Canavan disease is a rare inherited disorder that damages the ability of nerve cells (neurons) in the brain to send and receive messages. This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies disrupt the growth or maintenance of the myelin sheath, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses. Neonatal/infantile Canavan disease is the most common and most severe form of the condition. Affected infants appear normal for the first few months of life, but by age 3 to 5 months, problems with development become noticeable. These infants usually do not develop motor skills such as turning over, controlling head movement, and sitting without support. Other common features of this condition include weak muscle tone (hypotonia), an unusually large head size (macrocephaly), and irritability. Feeding and swallowing difficulties, seizures, and sleep disturbances may also develop. The mild/juvenile form of Canavan disease is less common. Affected individuals have mildly delayed development of speech and motor skills starting in childhood. These delays may be so mild and nonspecific that they are never recognized as being caused by Canavan disease. The life expectancy for people with Canavan disease varies. Most people with the neonatal/infantile form live only into childhood, although some survive into adolescence or beyond. People with the mild/juvenile form do not appear to have a shortened lifespan.

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Is ring chromosome 20 syndrome inherited ?

Ring chromosome 20 syndrome is almost never inherited. A ring chromosome typically occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early embryonic development. Often, the ring chromosome is present in only some of a person's cells. This situation is known as mosaicism. Most affected individuals have no history of the disorder in their families. However, at least one family has been reported in which a ring chromosome 20 was passed from a mother to her children.

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How to prevent Abdominal Adhesions ?

Abdominal adhesions are diffi cult to prevent; however, certain surgical techniques can minimize abdominal adhesions. Laparoscopic surgery decreases the potential for abdominal adhesions because several tiny incisions are made in the lower abdomen instead of one large incision. The surgeon inserts a laparoscopea thin tube with a tiny video camera attachedinto one of the small incisions. The camera sends a magnified image from inside the body to a video monitor. Patients will usually receive general anesthesia during this surgery. If laparoscopic surgery is not possible and a large abdominal incision is required, at the end of surgery a special fi lmlike material can be inserted between organs or between the organs and the abdominal incision. The fi lmlike material, which looks similar to wax paper and is absorbed by the body in about a week, hydrates organs to help prevent abdominal adhesions. Other steps taken during surgery to reduce abdominal adhesions include - using starch- and latex-free gloves - handling tissues and organs gently - shortening surgery time - using moistened drapes and swabs - occasionally applying saline solution

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what is the risk for my pet for Rabies ?

Any animal bitten or scratched by either a wild, carnivorous mammal or a bat that is not available for testing should be regarded as having been exposed to rabies. Unvaccinated dogs, cats, and ferrets exposed to a rabid animal should be euthanized immediately. If the owner is unwilling to have this done, the animal should be placed in strict isolation for 6 months and vaccinated 1 month before being released. Animals with expired vaccinations need to be evaluated on a case-by-case basis. Dogs and cats that are currently vaccinated are kept under observation for 45 days. Small mammals such as squirrels, rats, mice, hamsters, guinea pigs, gerbils, chipmunks, rabbits, and hares are almost never found to be infected with rabies and have not been known to cause rabies among humans in the United States. Bites by these animals are usually not considered a risk of rabies unless the animal was sick or behaving in any unusual manner and rabies is widespread in your area. However, from 1985 through 1994, woodchucks accounted for 86% of the 368 cases of rabies among rodents reported to CDC. Woodchucks or groundhogs (Marmota monax) are the only rodents that may be frequently submitted to state health department because of a suspicion of rabies. In all cases involving rodents, the state or local health department should be consulted before a decision is made to initiate postexposure prophylaxis (PEP). Is there rabies in my area? Each state collects specific information about rabies, and is the best source for information on rabies in your area. In addition, the CDC publishes rabies surveillance data every year for the United States. The report, entitled Rabies Surveillance in the United States, contains information about the number of cases of rabies reported to CDC during the year, the animals reported rabid, maps showing where cases were reported for wild and domestic animals, and distribution maps showing outbreaks of rabies associated with specific animals.

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Who is at risk for Mntriers Disease? ?

Mntriers disease is rare. The disease is more common in men than in women. The average age at diagnosis is 55.2

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What is (are) Primary Ciliary Dyskinesia ?

Primary ciliary (SIL-e-ar-e) dyskinesia (dis-kih-NE-ze-ah), or PCD, is a rare disease that affects tiny, hair-like structures that line the airways. These structures are called cilia (SIL-e-ah). Cilia move together in wave-like motions. They carry mucus (a slimy substance) toward the mouth to be coughed or sneezed out of the body. The mucus contains inhaled dust, bacteria, and other small particles. If the cilia don't work well, bacteria stay in your airways. This can cause breathing problems, infections, and other disorders. PCD mainly affects the sinuses, ears, and lungs. Some people who have PCD have breathing problems from the moment of birth. Sperm cells have structures that are like cilia. In men who have PCD, these structures also may not work well. This can cause fertility problems. "Fertility" refers to the ability to have children. Fertility problems also occur in some women who have PCD. These problems likely are due to faulty cilia in the fallopian tubes. (The fallopian tubes carry eggs from the ovaries to the uterus.) Overview PCD is an inherited disease. "Inherited" means the disease is passed from parents to children through genes. With PCD, this process is very complex. Researchers are still learning how the disease is inherited and which genes are involved. Generally, a child must inherit faulty genes from both parents to have PCD. These genes affect how cilia grow and function. Faulty genes may cause the cilia to be the wrong size or shape or move in the wrong way. Sometimes the cilia are missing altogether. No single faulty gene causes all cases of PCD. Rather, many genes are associated with the disease. If a child inherits a faulty gene (or genes) from only one parent, he or she may be a "PCD carrier." Carriers usually have no symptoms of PCD. However, carriers can pass faulty PCD genes on to their children. The symptoms and severity of PCD vary from person to person. If you or your child has the disease, you may have serious sinus, ear, and/or lung infections. If the disease is mild, it may not show up until the teen or adult years. The symptoms and severity of PCD also vary over time. Sometimes you may have few symptoms. Other times, your symptoms may become more severe. Some people who have PCD have a condition called situs inversus (SI-tus in-VER-sus). This is a condition in which the internal organs (for example, the heart, stomach, spleen, liver, and gallbladder) are in opposite positions from where they normally are. A correct and early diagnosis of PCD is very important. It will allow you or your child to get the proper treatment to keep your airways and lungs as healthy as possible. An early diagnosis and proper treatment also can prevent or delay lung damage. Outlook Many people who have PCD have normal lifespans. However, about 25 percent of people who have the disease may develop respiratory failure, a life-threatening condition. A small number of people who have PCD need lung transplants. Scientists continue to study the faulty genes that cause PCD. Further studies of the disease will likely lead to earlier diagnoses, better treatments, and improved outcomes.

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What are the symptoms of Nablus mask-like facial syndrome ?

What are the signs and symptoms of Nablus mask-like facial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nablus mask-like facial 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 antihelix 90% Aplasia/Hypoplasia of the eyebrow 90% Behavioral abnormality 90% Blepharophimosis 90% Cryptorchidism 90% Depressed nasal ridge 90% External ear malformation 90% Highly arched eyebrow 90% Lack of skin elasticity 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Pointed helix 90% Sacrococcygeal pilonidal abnormality 90% Telecanthus 90% Abnormality of dental morphology 50% Abnormality of the nipple 50% Camptodactyly of finger 50% Cognitive impairment 50% Limitation of joint mobility 50% Microcephaly 50% Sandal gap 50% Short neck 50% Abnormal hair quantity 7.5% Abnormality of the eyelashes 7.5% Abnormality of the nares 7.5% Cleft palate 7.5% Craniosynostosis 7.5% Finger syndactyly 7.5% Abnormality of the teeth - Autosomal recessive inheritance - Broad neck - Camptodactyly - Clinodactyly - Depressed nasal bridge - Frontal bossing - Frontal upsweep of hair - Happy demeanor - High palate - Hypertelorism - Hypoplasia of the maxilla - Hypoplastic nipples - Joint contracture of the hand - Labial hypoplasia - Low anterior hairline - Low-set ears - Mask-like facies - Micropenis - Narrow forehead - Narrow mouth - Posteriorly rotated ears - Postnatal microcephaly - Prominent glabella - Retrognathia - Short nose - Short palpebral fissure - Smooth philtrum - Sparse eyebrow - Sparse eyelashes - Sporadic - Tapered finger - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

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What are the symptoms of Polycystic liver disease ?

What are the signs and symptoms of Polycystic liver disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Polycystic liver disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hepatomegaly 90% Polycystic kidney dysplasia 50% Abdominal pain 7.5% Abnormality of the pancreas 7.5% Aneurysm 7.5% Elevated alkaline phosphatase 7.5% Feeding difficulties in infancy 7.5% Gastrointestinal hemorrhage 7.5% Respiratory insufficiency 7.5% Abdominal distention - Abnormality of the cardiovascular system - Abnormality of the nervous system - Ascites - Autosomal dominant inheritance - Back pain - Increased total bilirubin - Polycystic liver disease - Renal cyst - 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.

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what research (or clinical trials) is being done for Congenital Myasthenia ?

The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) support research related to congenital myasthenia through grants to major research institutions across the country. Much of this research focuses on finding better ways to prevent, treat and ultimately cure disorders such as congenital myasthenia.

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How many people are affected by biotinidase deficiency ?

Profound or partial biotinidase deficiency occurs in approximately 1 in 60,000 newborns

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What is (are) Drug Reactions ?

Most of the time, medicines make our lives better. They reduce aches and pains, fight infections, and control problems such as high blood pressure or diabetes. But medicines can also cause unwanted reactions. One problem is interactions, which may occur between - Two drugs, such as aspirin and blood thinners - Drugs and food, such as statins and grapefruit - Drugs and supplements, such as gingko and blood thinners - Drugs and diseases, such as aspirin and peptic ulcers Interactions can change the actions of one or both drugs. The drugs might not work, or you could get side effects. Side effects are unwanted effects caused by the drugs. Most are mild, such as a stomach aches or drowsiness, and go away after you stop taking the drug. Others can be more serious. Drug allergies are another type of reaction. They can be mild or life-threatening. Skin reactions, such as hives and rashes, are the most common type. Anaphylaxis, a serious allergic reaction, is more rare. When you start a new prescription or over-the-counter medication, make sure you understand how to take it correctly. Know which other medications and foods you need to avoid. Ask your health care provider or pharmacist if you have questions.

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What is (are) cri-du-chat syndrome ?

Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy. Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face. Some children with cri-du-chat syndrome are born with a heart defect.

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