umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Wallenberg's Syndrome ?

Answer: Wallenbergs syndrome is a neurological condition caused by a stroke in the vertebral or posterior inferior cerebellar artery of the brain stem. Symptoms include difficulties with swallowing, hoarseness, dizziness, nausea and vomiting, rapid involuntary movements of the eyes (nystagmus), and problems with balance and gait coordination. Some individuals will experience a lack of pain and temperature sensation on only one side of the face, or a pattern of symptoms on opposite sides of the body  such as paralysis or numbness in the right side of the face, with weak or numb limbs on the left side. Uncontrollable hiccups may also occur, and some individuals will lose their sense of taste on one side of the tongue, while preserving taste sensations on the other side. Some people with Wallenbergs syndrome report that the world seems to be tilted in an unsettling way, which makes it difficult to keep their balance when they walk.
Question: what research (or clinical trials) is being done for Ataxia Telangiectasia ?

Answer: NINDS-supported researchers discovered the gene responsible for A-T, known as ATM (ataxia-telangiectasia mutated) in 1995. This gene makes a protein that activates many (probably more than 700) other proteins that control cell cycle, DNA repair, and cell death. Without it, cells are unable to activate the cellular checkpoints that protect against the damage of ionizing radiation and other agents that can harm DNA. In addition to supporting basic research on A-T, NINDS also funds research aimed at A-T drug development, including development of animal models, gene and stem-cell based therapies, and high-throughput drug screens. The NINDS also leads a trans-NIH A-T Working Group whose members include NINDS, NHLBI, NIEHS, NCI, NEI, NIGMS, NHGRI, NIA, NIAID, NICHD, and ORD.
Question: What are the genetic changes related to Li-Fraumeni syndrome ?

Answer: The CHEK2 and TP53 genes are associated with Li-Fraumeni syndrome.  More than half of all families with Li-Fraumeni syndrome have inherited mutations in the TP53 gene. TP53 is a tumor suppressor gene, which means that it normally helps control the growth and division of cells. Mutations in this gene can allow cells to divide in an uncontrolled way and form tumors. Other genetic and environmental factors are also likely to affect the risk of cancer in people with TP53 mutations.  A few families with cancers characteristic of Li-Fraumeni syndrome and Li-Fraumeni-like syndrome do not have TP53 mutations, but have mutations in the CHEK2 gene. Like the TP53 gene, CHEK2 is a tumor suppressor gene. Researchers are uncertain whether CHEK2 mutations actually cause these conditions or are merely associated with an increased risk of certain cancers (including breast cancer).
Question: What are the genetic changes related to oral-facial-digital syndrome ?

Answer: Only one gene, OFD1, has been associated with oral-facial-digital syndrome. Mutations in this gene cause oral-facial-digital syndrome type I. OFD1 gene mutations were also found in an affected family whose disorder was classified as type VII; however, researchers now believe that type VII is the same as type I.  The OFD1 gene provides instructions for making a protein whose function is not fully understood. It appears to play an important role in the early development of many parts of the body, including the brain, face, limbs, and kidneys. Mutations in the OFD1 gene prevent cells from making enough functional OFD1 protein, which disrupts the normal development of these structures. It is unclear how a shortage of this protein causes the specific features of oral-facial-digital syndrome type I.  Researchers are actively searching for the genetic changes responsible for the other forms of oral-facial-digital syndrome.
Question: What are the genetic changes related to capillary malformation-arteriovenous malformation syndrome ?

Answer: CM-AVM is caused by mutations in the RASA1 gene. This gene provides instructions for making a protein known as p120-RasGAP, which is involved in transmitting chemical signals from outside the cell to the nucleus. These signals help control several important cell functions, including cell growth and division (proliferation), the process by which cells mature to carry out specific functions (differentiation), and cell movement. The role of the p120-RasGAP protein is not fully understood, although it appears to be essential for the normal development of the vascular system.  Mutations in the RASA1 gene lead to the production of a nonfunctional version of the p120-RasGAP protein. A loss of this protein's activity disrupts tightly regulated chemical signaling during development. However, it is unclear how these changes lead to the specific vascular abnormalities seen in people with CM-AVM.
Question: What are the treatments for Graves' Disease ?

Answer: Treatment for Graves disease can sometimes affect pregnancy. After treatment with surgery or radioactive iodine, TSI antibodies can still be present in the blood, even when thyroid levels are normal. If a pregnant woman has received either of these treatments prior to becoming pregnant, the antibodies she produces may travel across the placenta to the babys bloodstream and stimulate the fetal thyroid.
                
A pregnant woman who has been treated with surgery or radioactive iodine should inform her health care provider so her baby can be monitored for thyroid-related problems later in the pregnancy. Pregnant women may safely be treated with anti-thyroid medications.
                
For more information about pregnancy and anti-thyroid medications, see Medications under the section titled How is Graves disease treated?More information about pregnancy and thyroid disease is provided in the NIDDK health topic, Pregnancy and Thyroid Disease.
Question: What are the symptoms of Urinary Tract Infection In Adults ?

Answer: Symptoms of a UTI vary by age, gender, and whether a catheter is present. Among young women, UTI symptoms typically include a frequent and intense urge to urinate and a painful, burning feeling in the bladder or urethra during urination. The amount of urine may be very small. Older women and men are more likely to be tired, shaky, and weak and have muscle aches and abdominal pain. Urine may look cloudy, dark, or bloody or have a foul smell. In a person with a catheter, the only symptom may be fever that cannot be attributed to any other cause. Normally, UTIs do not cause fever if they are in the bladder. A fever may mean the infection has reached the kidneys or has penetrated the prostate. Other symptoms of a kidney infection include pain in the back or side below the ribs, nausea, and vomiting.
Question: What causes Diabetes ?

Answer: Type 1 diabetes is an autoimmune disease. In an autoimmune reaction, antibodies, or immune cells, attach to the body's own healthy tissues by mistake, signaling the body to attack them. At present, scientists do not know exactly what causes the body's immune system to attack the insulin-producing cells in the pancreas in people with type 1 diabetes. However, many believe that both genetic factors and environmental factors are involved. Studies now are underway to identify these factors and prevent type 1 diabetes in people at risk. Type 2 diabetesthe most common form of diabetesis caused by a combination of factors, including insulin resistance, a condition in which the bodys muscle, fat, and liver cells do not use insulin effectively. Type 2 diabetes develops when the body can no longer produce enough insulin to compensate for the impaired ability to use insulin.  Get more details about who should be tested for diabetes.
Question: How to diagnose Osteoporosis ?

Answer: Diagnosing osteoporosis involves several steps, starting with a physical exam and a careful medical history, blood and urine tests, and possibly a bone mineral density assessment. When recording information about your medical history, your doctor will ask questions to find out whether you have risk factors for osteoporosis and fractures. The doctor may ask about -  any fractures you have had   -  your lifestyle (including diet, exercise habits, and whether you smoke)  - current or past health problems   - medications that could contribute to low bone mass and increased fracture risk  - your family history of osteoporosis and other diseases   - for women, your menstrual history.  any fractures you have had your lifestyle (including diet, exercise habits, and whether you smoke) current or past health problems medications that could contribute to low bone mass and increased fracture risk your family history of osteoporosis and other diseases for women, your menstrual history.
Question: How to prevent Peripheral Arterial Disease (P.A.D.) ?

Answer: Treatment and prevention for P.A.D. often includes making long-lasting lifestyle changes, such as - quitting smoking  - lowering blood pressure  - lowering high blood cholesterol levels  - lowering high blood glucose levels if you have diabetes  - getting regular physical activity  - following a healthy eating plan that's low in total fat, saturated fat, trans fat, cholesterol, and sodium (salt). quitting smoking lowering blood pressure lowering high blood cholesterol levels lowering high blood glucose levels if you have diabetes getting regular physical activity following a healthy eating plan that's low in total fat, saturated fat, trans fat, cholesterol, and sodium (salt). Two examples of healthy eating plans are Therapeutic Lifestyle Changes (TLC) and  Dietary Approaches to Stop Hypertension (DASH).
Question: What is (are) Cataract ?

Answer: A Clouding of the Lens in the Eye A cataract is a clouding of the lens in the eye that affects vision. The lens is a clear part of the eye that helps to focus light, or an image, on the retina. The retina is the light-sensitive tissue at the back of the eye. In a normal eye, light passes through the transparent lens to the retina. Once it reaches the retina, light is changed into nerve signals that are sent to the brain. In a normal eye, light passes through the transparent lens to the retina. Once it reaches the retina, light is changed into nerve signals that are sent to the brain. A cataract can occur in either or both eyes. It cannot spread from one eye to the other. Cataracts and Aging Most cataracts are related to aging. Cataracts are very common in older people. By age 80, more than half of all Americans either have a cataract or have had cataract surgery.
Question: Is Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer inherited ?

Answer: Some ovarian, fallopian tube, and primary peritoneal cancers are caused by inherited gene mutations (changes). The genes in cells carry the hereditary information that is received from a persons parents. Hereditary ovarian cancer makes up about 20% of all cases of ovarian cancer. There are three hereditary patterns: ovarian cancer alone, ovarian and breast cancers, and ovarian and colon cancers.    Fallopian tube cancer and peritoneal cancer may also be caused by certain inherited gene mutations.   There are tests that can detect gene mutations. These genetic tests are sometimes done for members of families with a high risk of cancer. See the following PDQ summaries for more information:          -  Ovarian, Fallopian Tube, and Primary Peritoneal Cancer Prevention     -  Genetics of Breast and Gynecologic Cancers (for health professionals)
Question: What is (are) Diarrhea ?

Answer: Diarrhea means that you have loose, watery stools more than three times in one day. You may also have cramps, bloating, nausea and an urgent need to have a bowel movement.     Causes of diarrhea include bacteria, viruses or parasites, certain medicines, food intolerances and diseases that affect the stomach, small intestine or colon. In many cases, no cause can be found.     Although usually not harmful, diarrhea can become dangerous or signal a more serious problem. You should talk to your doctor if you have a strong pain in your abdomen or rectum, a fever, blood in your stools, severe diarrhea for more than three days or symptoms of dehydration. If your child has diarrhea, do not hesitate to call the doctor for advice. Diarrhea can be dangerous in children.     NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Question: What is (are) Helicobacter Pylori Infections ?

Answer: Helicobacter pylori (H. pylori) is a type of bacteria that causes infection in the stomach. It is found in about two-thirds of the world's population. It may be spread by unclean food and water, but researchers aren't sure. It causes Peptic ulcers and can also cause stomach cancer.    If you have symptoms of a peptic ulcer, your doctor will test your blood, breath or stool to see if it contains H. pylori. The best treatment is a combination of antibiotics and acid-reducing medicines. You will need to be tested after treatment to make sure the infection is gone.    To help prevent an H. pylori infection, you should       - Wash your hands after using the bathroom and before eating    - Eat properly prepared food    - Drink water from a clean, safe source       NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Question: What is (are) Atrial Fibrillation ?

Answer: An arrhythmia is a problem with the speed or rhythm of the heartbeat. Atrial fibrillation (AF) is the most common type of arrhythmia. The cause is a disorder in the heart's electrical system.      Often, people who have AF may not even feel symptoms. But you may feel        - Palpitations -- an abnormal rapid heartbeat    - Shortness of breath    - Weakness or difficulty exercising    - Chest pain    - Dizziness or fainting    - Fatigue    - Confusion        AF can lead to an increased risk of stroke. In many patients, it can also cause chest pain, heart attack, or heart failure.      Doctors diagnose AF using family and medical history, a physical exam, and a test called an electrocardiogram (EKG), which looks at the electrical waves your heart makes. Treatments include medicines and procedures to restore normal rhythm.     NIH: National Heart, Lung, and Blood Institute
Question: What is (are) Pseudoxanthoma elasticum ?

Answer: Pseudoxanthoma elasticum, PXE, is an inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract.  PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach.  A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin.  ABCC6 is the only gene known to be associated with this condition.  Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinations with their primary physician.
Question: Is Pendred syndrome inherited ?

Answer: How is Pendred syndrome inherited? Pendred syndrome is inherited in an autosomal recessive manner. For most autosomal recessive conditions, a person must have 2 changed (mutated) copies of the responsible gene in each cell in order to have the condition. One changed copy of the responsible gene is usually inherited from each parent; the parents are referred to as carriers. Carriers typically do not have signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% chance to not be a carrier and not have the condition. Pendred syndrome can be caused either by having mutations in both copies of the SLC26A4 gene (more commonly), or by having one mutation in the SLC26A4 gene and one mutation in another gene.
Question: What is (are) Hypohidrotic ectodermal dysplasia ?

Answer: Hypohidrotic ectodermal dysplasia (HED) is a genetic skin disease. Common symptoms include sparse scalp and body hair, reduced ability to sweat, and missing teeth. HED is caused by mutations in the EDA, EDAR, or EDARADD genes. It may be inherited in an X-linked recessive, autosomal recessive, or autosomal dominant manner depending on the genetic cause of the condition. The X-linked form is the most common form. The forms have similar signs and symptoms, however the the autosomal dominant form tends to be the mildest. Treatment of hypohidrotic ectodermal dysplasia may include special hair care formulas or wigs, measures to prevent overheating, removal of ear and nose concretions, and dental evaluations and treatment (e.g., restorations, dental implants, or dentures).
Question: What is (are) Adult-onset Still's disease ?

Answer: Adult-onset Still's disease is an inflammatory condition characterized by high fevers, rash, sore throat, and joint pain. As it progresses, adult-onset Still's disease may lead to chronic arthritis and other complications. Still's disease was named after an English doctor named George Still, who described the condition in children in 1896. Still's disease which occurs in children (those under the age of 16) is now known as systemic onset juvenile rheumatoid arthritis (JRA). In 1971, the term "adult Still's disease" was used to describe adults who had a condition similar to systemic onset JRA. The cause of adult-onset Still's disease is unknown. No risk factors for the disease have been identified. There's no cure for adult-onset Still's disease; however, treatment may offer symptom relief and help prevent complications.
Question: What are the treatments for Lipoid proteinosis of Urbach and Wiethe ?

Answer: How might lipoid proteinosis of Urbach and Wiethe be treated? There is currently no cure for lipoid proteinosis (LP) of Urbach and Wiethe. Treatment is based on the signs and symptoms present in each person. The skin abnormalities found in people affected by LP may be treated with certain medications, including corticosteriods, dimethyl sulfoxide; or d-penicillamine. An additional medication called acitretin can be used to treat hoarseness and some skin problems. Anticonvulsant medications are often prescribed for people with seizures. The success of these medications in treating the signs and symptoms of LP varies. Affected people with growths on their vocal cords or eyelids may be treated with carbon dioxide laser surgery. Dermabrasion (removal of the top layer of skin) may also improve the appearance of skin abnormalities.
Question: What is (are) Periodic fever, aphthous stomatitis, pharyngitis and adenitis ?

Answer: Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) is a periodic disease, which is a heterogeneous group of disorders characterized by short episodes of illness that regularly recur for several years alternated with healthy periods. PFAPA is characterized by high fevers lasting three to six days and recurring every 21 to 28 days, accompanied by some or all of the signs noted in its name, namely mouth sores (aphthous stomatitis), sore throat (pharyngitis), and enlarged lymph nodes (cervical adenitis). The syndrome usually occurs in children younger than five years; although it has been reported in children up to 13 years. The syndrome is sporadic and non-hereditary. The course of PFAPA can be persistent for years before spontaneous, full resolution.
Question: What are the treatments for Intravenous leiomyomatosis ?

Answer: How might intravenous leiomyomatosis be treated? The mainstay of treatment for IVL is surgery to remove the tumor and its spread throughout the body. The use of anti-estrogen therapy, such as tamoxifen, has also been suggested. Surgery requires the complete removal of the tumor, since incomplete removal may result in a recurrence and hence further surgery or even death. Many affected individuals undergo a hysterectomy; bilateral oophorectomy is also suggested because these tumors are estrogen dependent. Part of a tumor left inside the pelvic veins at the time of hysterectomy can extend towards the right side of the heart, leading to obstruction and other adverse events later in life. The median time between hysterectomy to the diagnosis of IVL with cardiac involvement is 4 years. Once there is cardiac involvement, a patient may require open-heart surgery to remove the IVL from the affected areas.
Question: What are the treatments for Aspergillosis ?

Answer: How might aspergillosis be treated? If the infection is widespread or the person appears seriously ill, treatment is started immediately. Voriconazole is currently first-line treatment for invasive aspergillosis and is usually given intravenously. There are other antifungal drugs that can be used to treat invasive aspergillosis in patients who cannot take voriconazole or who have not responded to voriconazole. These include itraconazole, lipid amphotericin formulations, caspofungin, micafungin, and posaconazole. Whenever possible, immunosuppressive medications should be discontinued or decreased. A fungus ball usually does not require treatment unless bleeding into the lung tissue is associated with the infection, then surgery is required. Antifungal agents do not help people with allergic aspergillosis. Allergic aspergillosis is treated with prednisone taken by mouth.
Question: What is (are) Familial mixed cryoglobulinemia ?

Answer: Familial mixed cryoglobulinemia is a rare condition that is characterized by the presence of abnormal proteins (called cryoglobulins) in the blood. These proteins clump together into a "gel-like" consistency at low temperatures, which can lead to inflammation, blocked blood vessels, and a variety of health problems. The associated signs and symptoms vary from person to person depending on which parts of the body or organ systems are affected; however, common features include purpura, joint pain, breathing problems, muscle pain, fatigue, glomerulonephritis, Raynaud's phenomenon, and skin abnormalities. The underlying genetic cause of familial mixed cryoglobulinemia is currently unknown. Although there are only a few reported families with this condition, it appears to be inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. In severe cases, medications that suppress the immune system may be necessary.
Question: What is (are) 1q21.1 microdeletion syndrome ?

Answer: 1q21.1 microdeletion syndrome is a newly described chromosome abnormality where a segment of genetic material on the long arm (or q arm) of chromosome 1 at position 21.1 is missing (or deleted). It has been described in 46 patients to date. Some people with this deletion have no observable features; while others have variable features that can include small head, developmental delay (speech and motor delays), mild intellectual disability, distinctive facial features, and eye abnormalities. Other findings can include seizures as well as abnormalities of the heart, skeleton, and urinary system. Psychiatric and behavioral features can include autism spectrum disorders, schizophrenia, attention deficit hyperactivity disorder and sleep disorders. This syndrome is caused by a deletion in a specific region of 1q21.1, which is distinct from the deletion region that causes TAR syndrome.