umarjan11/Medical-qna huggingface dataset:
Question: What are the genetic changes related to megalencephalic leukoencephalopathy with subcortical cysts ?

Answer: Mutations in the MLC1 gene cause megalencephalic leukoencephalopathy with subcortical cysts type 1; this type accounts for 75 percent of all cases. The MLC1 gene provides instructions for producing a protein that is made primarily in the brain. The MLC1 protein is found in astroglial cells, which are a specialized form of brain cells called glial cells. Glial cells protect and maintain other nerve cells (neurons). The MLC1 protein functions at junctions that connect neighboring astroglial cells. The role of the MLC1 protein at the cell junction is unknown, but research suggests that it may control the flow of fluids into cells or the strength of cells' attachment to one another (cell adhesion).  Mutations in the HEPACAM gene cause megalencephalic leukoencephalopathy with subcortical cysts types 2A and 2B; together, these types account for 20 percent of all cases. The HEPACAM gene provides instructions for making a protein called GlialCAM. This protein primarily functions in the brain, particularly in glial cells. GlialCAM attaches (binds) to other GlialCAM proteins or to the MLC1 protein and guides them to cell junctions. The function of GlialCAM at the cell junction is unclear.  Most MLC1 gene mutations alter the structure of the MLC1 protein or prevent the cell from producing any of this protein, leading to a lack of functional MLC1 protein at the astroglial cell junctions. HEPACAM gene mutations lead to a protein that is unable to correctly transport GlialCAM and MLC1 proteins to cell junctions. It is unknown how a lack of functional MLC1 or GlialCAM protein at cell junctions in the brain impairs brain development and function, causing the signs and symptoms of megalencephalic leukoencephalopathy with subcortical cysts.  Approximately 5 percent of people with megalencephalic leukoencephalopathy with subcortical cysts do not have identified mutations in the MLC1 or HEPACAM gene. In these individuals, the cause of the disorder is unknown.
Question: What is (are) Hypoglycemia ?

Answer: Hypoglycemia, also called low blood glucose or low blood sugar, occurs when blood glucose drops below normal levels. Glucose, an important source of energy for the body, comes from food. Carbohydrates are the main dietary source of glucose. Rice, potatoes, bread, tortillas, cereal, milk, fruit, and sweets are all carbohydrate-rich foods.
                
After a meal, glucose is absorbed into the bloodstream and carried to the body's cells. Insulin, a hormone made by the pancreas, helps the cells use glucose for energy. If a person takes in more glucose than the body needs at the time, the body stores the extra glucose in the liver and muscles in a form called glycogen. The body can use glycogen for energy between meals. Extra glucose can also be changed to fat and stored in fat cells. Fat can also be used for energy.
                
When blood glucose begins to fall, glucagonanother hormone made by the pancreassignals the liver to break down glycogen and release glucose into the bloodstream. Blood glucose will then rise toward a normal level. In some people with diabetes, this glucagon response to hypoglycemia is impaired and other hormones such as epinephrine, also called adrenaline, may raise the blood glucose level. But with diabetes treated with insulin or pills that increase insulin production, glucose levels can't easily return to the normal range.
                
Hypoglycemia can happen suddenly. It is usually mild and can be treated quickly and easily by eating or drinking a small amount of glucose-rich food. If left untreated, hypoglycemia can get worse and cause confusion, clumsiness, or fainting. Severe hypoglycemia can lead to seizures, coma, and even death.
                
In adults and children older than 10 years, hypoglycemia is uncommon except as a side effect of diabetes treatment. Hypoglycemia can also result, however, from other medications or diseases, hormone or enzyme deficiencies, or tumors.
Question: What is (are) High Blood Cholesterol ?

Answer: If TLC (Therapeutic Lifestyle Changes) cannot lower your LDL cholesterol level enough by itself, your doctor may prescribe cholesterol-lowering medicines. The following medicines are used together with TLC to help lower your LDL (bad) cholesterol level. - statins  - ezetimibe  - bile acid sequestrants  - nicotinic acid  - fibrates. statins ezetimibe bile acid sequestrants nicotinic acid fibrates. Statins  - are very effective in lowering LDL (bad) cholesterol levels   - are safe for most people  - have side effects that are infrequent, but potentially serious such as liver and muscle problems. are very effective in lowering LDL (bad) cholesterol levels are safe for most people have side effects that are infrequent, but potentially serious such as liver and muscle problems. Ezetimibe - lowers LDL (bad) cholesterol   - may be used with statins or alone  -  acts within the intestine to block absorption of cholesterol. lowers LDL (bad) cholesterol may be used with statins or alone acts within the intestine to block absorption of cholesterol. Bile acid sequestrants - lower LDL (bad) cholesterol levels  - are sometimes prescribed with statins  - are not usually prescribed alone to lower cholesterol. lower LDL (bad) cholesterol levels are sometimes prescribed with statins are not usually prescribed alone to lower cholesterol. Nicotinic acid - lowers LDL (bad) cholesterol and triglycerides, and raises HDL (good) cholesterol  - should be used only under a doctor's supervision. lowers LDL (bad) cholesterol and triglycerides, and raises HDL (good) cholesterol should be used only under a doctor's supervision. Fibrates - mainly lower triglycerides  - may increase HDL (good) cholesterol levels  - may increase the risk of muscle problems when used with a statin. mainly lower triglycerides may increase HDL (good) cholesterol levels may increase the risk of muscle problems when used with a statin.
Question: what research (or clinical trials) is being done for Melanoma ?

Answer: New types of treatment are being tested in clinical trials.
                    Information about clinical trials is available from the NCI website
                
                
                    Treatment for melanoma 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.
                
                
                    Follow-up tests may be needed.
                    Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests.   Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups.
Question: What are the symptoms of Achondroplasia and severe combined immunodeficiency ?

Answer: What are the signs and symptoms of Achondroplasia and severe combined immunodeficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondroplasia and severe combined immunodeficiency. 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) Cellular immunodeficiency 90% Lymphopenia 90% Recurrent respiratory infections 90% Fine hair 50% Reduced bone mineral density 50% Short stature 50% Abnormality of the fibula 7.5% Abnormality of the pancreas 7.5% Aganglionic megacolon 7.5% Anemia 7.5% Cognitive impairment 7.5% Hernia of the abdominal wall 7.5% Hypopigmentation of hair 7.5% Malabsorption 7.5% Pectus excavatum 7.5% Abnormality of the thorax - Agammaglobulinemia - Autosomal recessive inheritance - Death in childhood - Hypoplasia of the thymus - Metaphyseal chondrodysplasia - Severe combined immunodeficiency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Schizencephaly ?

Answer: What are the signs and symptoms of Schizencephaly? Signs and symptoms of schizencephaly may include: Developmental delay Seizures Abnormally small head (microcephaly) Intellectual disability Partial or complete paralysis Poor muscle tone (hypotonia) Hydrocephalus Severity of symptoms depends on many factors, including the extent of the clefting and whether or not other brain abnormalities are present. For example, people with a small cleft in one hemisphere may have paralysis on one side of the body and little to no intellectual disability, while clefts in both hemispheres can lead to quadriplegia (paralysis of both arms and legs) and severe intellectual disability. The Human Phenotype Ontology provides the following list of signs and symptoms for Schizencephaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the corpus callosum 90% EEG abnormality 90% Hypertonia 90% Porencephaly 90% Strabismus 90% Cognitive impairment 50% Hemiplegia/hemiparesis 50% Seizures 50% Schizencephaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: How to diagnose Immune Thrombocytopenia ?

Answer: Your doctor will diagnose immune thrombocytopenia (ITP) based on your medical history, a physical exam, and test results.
                
Your doctor will want to make sure that your low platelet count isn't due to another condition (such as an infection) or medicines you're taking (such as chemotherapy medicines or aspirin).
                
Medical History
                
Your doctor may ask about:
                
Your signs and symptoms of bleeding and any other signs or symptoms you're having
                
Whether you have illnesses that could lower your platelet count or cause bleeding
                
Medicines or any over-the-counter supplements or remedies you take that could cause bleeding or lower your platelet count
                
Physical Exam
                
During a physical exam, your doctor will look for signs of bleeding and infection. For example, your doctor may look for purplish areas on the skin or mucous membranes and pinpoint red spots on the skin. These are signs of bleeding under the skin.
                
Diagnostic Tests
                
You'll likely have blood tests to check your platelet count. These tests usually include:
                
A complete blood count. This test checks the number of red blood cells, white blood cells, and platelets in your blood. In ITP, the red and white blood cell counts are normal, but the platelet count is low.
                
A blood smear. For this test, some of your blood is put on a slide. A microscope is used to look at your platelets and other blood cells.
                
You also may have a blood test to check for the antibodies (proteins) that attack platelets.
                
If blood tests show that your platelet count is low, your doctor may recommend more tests to confirm a diagnosis of ITP. For example, bone marrow tests can show whether your bone marrow is making enough platelets.
                
If you're at risk for HIV, hepatitis C, or H. pylori, your doctor may screen you for these infections, which might be linked to ITP.
                
Some people who have mild ITP have few or no signs of bleeding. They may be diagnosed only if a blood test done for another reason shows that they have low platelet counts.
Question: How to prevent Overweight and Obesity ?

Answer: Following a healthy lifestyle can help you prevent overweight and obesity. Many lifestyle habits begin during childhood. Thus, parents and families should encourage their children to make healthy choices, such as following a healthy diet and being physically active.
                
Make following a healthy lifestyle a family goal. For example:
                
Follow a healthy eating plan. Make healthy food choices, keep your calorie needs and your family's calorie needs in mind, and focus on the balance of energy IN and energy OUT.
                
Focus on portion size. Watch the portion sizes in fast food and other restaurants. The portions served often are enough for two or three people. Children's portion sizes should be smaller than those for adults. Cutting back on portion size will help you balance energy IN and energy OUT.
                
Be active. Make personal and family time active. Find activities that everyone will enjoy. For example, go for a brisk walk, bike or rollerblade, or train together for a walk or run.
                
Reduce screen time. Limit the use of TVs, computers, DVDs, and videogames because they limit time for physical activity. Health experts recommend 2hours or less a day of screen time that's not work- or homework-related.
                
Keep track of your weight, body mass index, and waist circumference. Also, keep track of your children's growth.
                
Led by the National Heart, Lung, and Blood Institute, four Institutes from the National Institutes of Health have come together to promote We Can!Ways to Enhance Children's Activity & Nutrition.
                
We Can! is a national education program designed for parents and caregivers to help children 8 to 13 years old maintain a healthy weight. The evidence-based program offers parents and families tips and fun activities to encourage healthy eating, increase physical activity, and reduce time spent being inactive.
                
Currently, more than 140 community groups around the country are participating in We Can! programs for parents and youth. These community groups include hospitals, health departments, clinics, faith-based organizations, YMCAs, schools, and more.
                
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We Can! is a registered trademark of the U.S. Department of Health and Human Services.
Question: What is (are) familial dysautonomia ?

Answer: Familial dysautonomia is a genetic disorder that affects the development and survival of certain nerve cells. The disorder disturbs cells in the autonomic nervous system, which controls involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and body temperature. It also affects the sensory nervous system, which controls activities related to the senses, such as taste and the perception of pain, heat, and cold. Familial dysautonomia is also called hereditary sensory and autonomic neuropathy, type III.  Problems related to this disorder first appear during infancy. Early signs and symptoms include poor muscle tone (hypotonia), feeding difficulties, poor growth, lack of tears, frequent lung infections, and difficulty maintaining body temperature. Older infants and young children with familial dysautonomia may hold their breath for prolonged periods of time, which may cause a bluish appearance of the skin or lips (cyanosis) or fainting. This breath-holding behavior usually stops by age 6. Developmental milestones, such as walking and speech, are usually delayed, although some affected individuals show no signs of developmental delay.  Additional signs and symptoms in school-age children include bed wetting, episodes of vomiting, reduced sensitivity to temperature changes and pain, poor balance, abnormal curvature of the spine (scoliosis), poor bone quality and increased risk of bone fractures, and kidney and heart problems. Affected individuals also have poor regulation of blood pressure. They may experience a sharp drop in blood pressure upon standing (orthostatic hypotension), which can cause dizziness, blurred vision, or fainting. They can also have episodes of high blood pressure when nervous or excited, or during vomiting incidents. About one-third of children with familial dysautonomia have learning disabilities, such as a short attention span, that require special education classes. By adulthood, affected individuals often have increasing difficulties with balance and walking unaided. Other problems that may appear in adolescence or early adulthood include lung damage due to repeated infections, impaired kidney function, and worsening vision due to the shrinking size (atrophy) of optic nerves, which carry information from the eyes to the brain.
Question: What causes Psoriasis ?

Answer: Although the cause of psoriasis is not completely understood, scientists believe it is related to a problem with a type of blood cells called T cells. These cells normally travel through the bloodstream to help fight an infection, but in people with psoriasis, they attack the bodys skin cells by mistake. Genes Play a Role No one knows what causes T cells to go wrong, but certain genes have been linked to psoriasis. People who have these genes are more likely to develop psoriasis than people without the genes. However, genes alone do not cause psoriasis. Scientists believe psoriasis occurs when something in the environment triggers the disease in someone who has one or more of these genes.  Psoriasis Triggers These so-called triggers may be different for different people. Different triggers may start the disease or make it worse in different people. Factors that may trigger psoriasis or make it worse include - physical and emotional stress  - injury to the skin such as cuts or burns  - infections, particularly strep throat  - cold weather   - smoking or heavy alcohol use  - certain medications such as     - lithium, a psychiatric drug   - antimalarials such as hydroxychloroquine and chloroquine    - inderal, a high blood pressure medicine   - quinidine, a heart medication   - indomethacin, a nonsteroidal anti-inflammatory drug often used to treat arthritis.   physical and emotional stress injury to the skin such as cuts or burns infections, particularly strep throat cold weather smoking or heavy alcohol use certain medications such as - lithium, a psychiatric drug  - antimalarials such as hydroxychloroquine and chloroquine   - inderal, a high blood pressure medicine  - quinidine, a heart medication  - indomethacin, a nonsteroidal anti-inflammatory drug often used to treat arthritis. lithium, a psychiatric drug antimalarials such as hydroxychloroquine and chloroquine inderal, a high blood pressure medicine quinidine, a heart medication indomethacin, a nonsteroidal anti-inflammatory drug often used to treat arthritis.
Question: What are the symptoms of Johnson Munson syndrome ?

Answer: What are the signs and symptoms of Johnson Munson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Johnson Munson 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) Adactyly 90% Split foot 90% Vertebral segmentation defect 90% Abnormality of female external genitalia 50% Abnormality of pelvic girdle bone morphology 50% Abnormality of the metacarpal bones 50% Anonychia 50% Aplasia/Hypoplasia of the lungs 50% Asymmetry of the thorax 50% Elbow dislocation 50% Finger syndactyly 50% Oligohydramnios 50% Patent ductus arteriosus 50% Renal hypoplasia/aplasia 50% Toe syndactyly 50% Vaginal fistula 50% Aphalangy of hands and feet - Aphalangy of the hands - Aplasia of the phalanges of the toes - Autosomal recessive inheritance - Hemivertebrae - Pulmonary hypoplasia - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.