umarjan11/Medical-qna huggingface dataset:
Question: What are the genetic changes related to Miller-Dieker syndrome ?

Answer: Miller-Dieker syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 17. The signs and symptoms of Miller-Dieker syndrome are probably related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals.  Researchers are working to identify all of the genes that contribute to the features of Miller-Dieker syndrome. They have determined that the loss of a particular gene on chromosome 17, PAFAH1B1, is responsible for the syndrome's characteristic sign of lissencephaly. The loss of another gene, YWHAE, in the same region of chromosome 17 increases the severity of the lissencephaly in people with Miller-Dieker syndrome. Additional genes in the deleted region probably contribute to the varied features of Miller-Dieker syndrome.
Question: What are the genetic changes related to CHOPS syndrome ?

Answer: CHOPS syndrome is caused by mutations in the AFF4 gene. This gene provides instructions for making part of a protein complex called the super elongation complex (SEC). During embryonic development, the SEC is involved in an activity called transcription, which is the first step in the production of proteins from genes. By re-starting the transcription of certain genes after pauses that normally occur during the process, the SEC helps ensure that development proceeds appropriately before birth.  Mutations in the AFF4 gene are thought to result in an AFF4 protein that is not broken down when it is no longer needed, so more AFF4 protein is available than usual. The excess AFF4 protein interferes with normal pauses in transcription. This dysregulation of transcription leads to problems in the development of multiple organs and tissues, resulting in the signs and symptoms of CHOPS syndrome.
Question: What are the symptoms of Prevent diabetes problems: Keep your heart and blood vessels healthy ?

Answer: A stroke happens when part of your brain is not getting enough blood and stops working. Depending on the part of the brain that is damaged, a stroke can cause
                
- sudden weakness or numbness of your face, arm, or leg on one side of your body  - sudden confusion, trouble talking, or trouble understanding  - sudden dizziness, loss of balance, or trouble walking  - sudden trouble seeing in one or both eyes or sudden double vision  - sudden severe headache
                
Sometimes, one or more of these warning signs may happen and then disappear. You might be having a "mini-stroke," also called a TIA or a transient ischemic attack. If you have any of these warning signs, call 911 right away. Getting care for a TIA may reduce or prevent a stroke. Getting prompt treatment for a stroke can reduce the damage to the brain and improve chances for recovery.
Question: Who is at risk for Fecal Incontinence? ?

Answer: Nearly 18 million U.S. adultsabout one in 12have fecal incontinence.1 People of any age can have a bowel control problem, though fecal incontinence is more common in older adults. Fecal incontinence is slightly more common among women. Having any of the following can increase the risk:
                
- diarrhea, which is passing loose, watery stools three or more times a day  - urgency, or the sensation of having very little time to get to the toilet for a bowel movement  - a disease or injury that damages the nervous system  - poor overall health from multiple chronic, or long lasting, illnesses  - a difficult childbirth with injuries to the pelvic floorthe muscles, ligaments, and tissues that support the uterus, vagina, bladder, and rectum
Question: What to do for Porphyria ?

Answer: People with an acute porphyria should eat a diet with an average-to-high level of carbohydrates. The recommended dietary allowance for carbohydrates is 130 g per day for adults and children 1 year of age or older; pregnant and breastfeeding women need higher intakes.2 People should avoid limiting intake of carbohydrates and calories, even for short periods of time, as this type of dieting or fasting can trigger symptoms. People with an acute porphyria who want to lose weight should talk with their health care providers about diets they can follow to lose weight gradually.
                
People undergoing therapeutic phlebotomies should drink plenty of milk, water, or juice before and after each procedure.
                
A health care provider may recommend vitamin and mineral supplements for people with a cutaneous porphyria.
Question: What are the treatments for Breast Cancer ?

Answer: Hormonal therapy keeps cancer cells from getting the hormones they need to grow. This treatment may include the use of drugs that change the way hormones work. Sometimes it includes surgery to remove the ovaries, which make female hormones. Like chemotherapy, hormonal therapy can affect cancer cells throughout the body. Often, women with early-stage breast cancer and those with metastatic breast cancer -- meaning cancer that has spread to other parts of the body -- receive hormone therapy in the form of tamoxifen. Hormone therapy with tamoxifen or estrogens can act on cells all over the body. However, it may increase the chance of developing endometrial cancer. If you take tamoxifen, you should have a pelvic examination every year to look for any signs of cancer. A woman should report any vaginal bleeding, other than menstrual bleeding, to her doctor as soon as possible.
Question: Who is at risk for Heart Failure? ?

Answer: Heart failure is more common in - people who are 65 years old or older   - African-Americans  - people who are overweight   - people who have had a heart attack  - men. people who are 65 years old or older African-Americans people who are overweight people who have had a heart attack men. Aging can weaken the heart muscle. Older people also may have had diseases for many years that led to heart failure. African Americans are more likely to have heart failure than people of other races. They're also more likely to have symptoms at a younger age, have more hospital visits due to heart failure, and die from heart failure. Excess weight puts strain on the heart. Being overweight also increases your risk of heart disease and type 2 diabetes. These diseases can lead to heart failure. A history of a heart attack puts people at greater risk for heart failure. Men have a higher rate of heart failure than women.
Question: Do you have information about Volcanoes

Answer: Summary : A volcano is a vent in the Earth's crust. Hot rock, steam, poisonous gases, and ash reach the Earth's surface when a volcano erupts. An eruption can also cause earthquakes, mudflows and flash floods, rock falls and landslides, acid rain, fires, and even tsunamis.    Volcanic gas and ash can damage the lungs of small infants, older adults, and people with severe respiratory illnesses. Volcanic ash can affect people hundreds of miles away from the eruption.    Although there are no guarantees of safety during a volcanic eruption, 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.    Federal Emergency Management Agency
Question: Do you have information about Organ Donation

Answer: Summary : Organ donation takes healthy organs and tissues from one person for transplantation into another. Experts say that the organs from one donor can save or help as many as 50 people. Organs you can donate include       - Internal organs: Kidneys, heart, liver, pancreas, intestines, lungs     - Skin     - Bone and bone marrow     - Cornea       Most organ and tissue donations occur after the donor has died. But some organs and tissues can be donated while the donor is alive.    People of all ages and background can be organ donors. If you are under age 18, your parent or guardian must give you permission to become a donor. If you are 18 or older you can show you want to be a donor by signing a donor card. You should also let your family know your wishes.    Health Resources and Services Administration
Question: Do you have information about Underage Drinking

Answer: Summary : Alcohol is the most widely abused substance among America's youth. Drinking by young people has big health and safety risks. It is dangerous because it       - Causes many deaths and injuries    - Can lead to poor decisions about engaging in risky behavior, such as drinking and driving or unprotected sex    - Increases the risk of physical and sexual assault    - Can lead to other problems, such as trouble in school    - May interfere with brain development    - Increases the risk of alcohol problems later in life       Kids often begin drinking to look "cool" or fit in with their peers. Parents can help their kids avoid alcohol problems. Open communication and conversations about drinking are important. So is being involved in your child's life. Get help for your child if you suspect a drinking problem.    NIH: National Institute on Alcohol Abuse and Alcoholism
Question: Do you have information about Vitamin K

Answer: Summary : Vitamins are substances that your body needs to grow and develop normally. Vitamin K helps your body by making proteins for healthy bones and tissues. It also makes proteins for blood clotting. If you don't have enough vitamin K, you may bleed too much.    Newborns have very little vitamin K. They usually get a shot of vitamin K soon after they are born.    If you take blood thinners, you need to be careful about how much vitamin K you get. You also need to be careful about taking vitamin E supplements. Vitamin E can interfere with how vitamin K works in your body. Ask your health care provider for recommendations about these vitamins.    There are different types of vitamin K. Most people get vitamin K from plants such as green vegetables, and dark berries. Bacteria in your intestines also produce small amounts of another type of vitamin K.
Question: What is (are) Chronic Pain ?

Answer: Pain is a feeling set off in the nervous system. Acute pain lets you know that you may be injured or have a problem you need to take care of. Chronic pain is different. The pain signals go on for weeks, months, or even years. The original cause may have been an injury or infection. There may be an ongoing cause of pain, such as arthritis or cancer. But in some cases there is no clear cause.    Problems that cause chronic pain include       - Headache    - Low back strain    - Cancer    - Arthritis    - Pain from nerve damage       Chronic pain usually cannot be cured. But treatments can help. They include medicines, acupuncture, electrical stimulation and surgery. Other treatments include psychotherapy, relaxation and meditation therapy, biofeedback, and behavior modification.     NIH: National Institute of Neurological Disorders and Stroke
Question: What is (are) Syringomyelia ?

Answer: Syringomyelia is a rare disorder that causes a cyst to form in your spinal cord. This cyst, called a syrinx, gets bigger and longer over time, destroying part of the spinal cord. Damage to the spinal cord from the syrinx can cause symptoms such as        - Pain and weakness in the back, shoulders, arms or legs    - Headaches    - Inability to feel hot or cold       Symptoms vary according to the size and location of the syrinx. They often begin in early adulthood.     Syringomyelia usually results from a skull abnormality called a Chiari I malformation. A tumor, meningitis or physical trauma can also cause it. Surgery is the main treatment. Some people also need to have the syrinx drained. Medicines can help ease pain. In some cases, there are no symptoms, so you may not need treatment.
Question: What are the treatments for Familial osteochondritis dissecans ?

Answer: How might osteochondritis dissecans be treated? The primary aim of treatment for osteochondritis dissecans is to restore normal function of the affected joint, relieve pain and prevent osteoarthritis. Treatment for the condition varies depending on many factors including the age of the affected person and the severity of the symptoms. In children and young teens, osteochondritis dissecans often heals overtime without surgical treatment. These cases are often managed with rest and in some cases, crutches and/or splinting to relieve pain and swelling. If non-surgical treatments are not successful or the case is particularly severe (i.e. the cartilage and bone are moving around within the joint space), surgery may be recommended. Following surgery, physical therapy is often necessary to improve the strength and range of motion of the affected joint.
Question: What is (are) Progeria ?

Answer: Progeria is a rare condition characterized by dramatic, rapid aging beginning in childhood. Affected newborns usually appear normal but within a year, their growth rate slows significantly. Affected children develop a distinctive appearance characterized by baldness, aged-looking skin, a pinched nose, and a small face and jaw relative to head size. They also often have symptoms typically seen in much older people including joint stiffness, hip dislocations and severe, progressive cardiovascular disease. Intelligence is typically normal. The average lifespan is age 13-14; death is usually due to heart attack or stroke. Progeria is caused by mutations in the LMNA gene, but almost always results from a new mutation rather than being inherited from a parent. Management focuses on the individual signs and symptoms of the condition. Although there is currently no cure, research involving treatment is ongoing and progress is being made.
Question: What is (are) Sialidosis type I ?

Answer: Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features. Sialidosis type I is the less severe form of this condition. People with this condition typically develop signs and symptoms of sialidosis in their teens or twenties. Characteristic features may include sudden involuntary muscle contractions (myoclonus), distinctive red spots (cherry-red macules) in the eyes, and sometimes additional neurological findings. Sialidosis type I is caused by mutations in the NEU1 gene. Individuals with sialidosis type I have mutations that result in some functional NEU1 enzyme. The condition is inherited in an autosomal recessive pattern. It does not affect intelligence or life expectancy.
Question: What are the treatments for Liposarcoma ?

Answer: How might liposarcoma be treated? The treatment for liposarcoma depends on the type, size, and location of the tumor.  Surgery to remove the tumor is often the first treatment.  When the tumor is in the abdomen, it may be difficult to remove completely, especially if the tumor is growing near important organs that cannot be removed.  If the entire tumor cannot be removed during surgery, radiation therapy may be used after surgery to kill any cancer cells that remain to reduce the chance of the tumor coming back (a recurrence).   Chemotherapy is another treatment that can kill remaining cancer cells following surgery, though it is not usually used to treat low-grade sarcomas.  Sometimes radiation therapy or chemotherapy may be done prior to surgery to shrink the tumor; this may increase the chance of removing the whole tumor during surgery while limiting the impact to other organs.
Question: What is (are) Fetal and neonatal alloimmune thrombocytopenia ?

Answer: Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a condition where a fetus or newborn experiences severe thrombocytopenia (low platelet count). NAIT occurs when the mother's immune system develops antibodies against antigens on the fetal platelets, which are inherited from the father and different from those present in the mother. These antibodies cross the placenta and can cause severe thrombocytopenia in the fetus. NAIT has been considered to be the platelet counterpart of Rh Hemolytic Disease of the Newborn (RHD). The incidence has been estimated at 1/800 to 1/1,000 live births. The spectrum of the disease may range from mild thrombocytopenia to life-threatening bleeding.
Question: What is (are) Neurocutaneous melanosis ?

Answer: Neurocutaneous melanosis (NCM) is a rare, non-inherited condition of the central nervous system. It is characterized by melanocytic nevi in both the skin and the brain. Two-thirds of people with NCM have giant congenital melanocytic nevi, and the remaining one-third have numerous lesions but no giant lesions. Most patients present with neurological features early in life, which can be secondary to intracranial hemorrhages (bleeding in the brain), impairment of cerebrospinal fluid circulation (fluid around the brain and spinal cord), and/or malignant transformation of the melanocytes. The prognosis of patients with symptomatic neurocutaneous melanosis is extremely poor, even in the absence of malignancy. Chemotherapy has been ineffective in the few patients in whom it has been tried.
Question: What are the treatments for Meningioma ?

Answer: How might meningiomas be treated? The treatment varies depending on the location of the meningioma and the symptoms caused by the tumor. Careful observation is sometimes the best course of action for people with a meningioma. When treatment is necessary, surgery and radiation are the most common forms of treatment. Radiation may be used if the meningioma cannot be operated on or if the meningioma is only partially removed by surgery. Radiation may also be used in cases of malignant, atypical, or recurrent tumors. Other treatments that have been tried or are being explored include hydroxyurea, epidermal growth factor receptor inhibitors, platelet-derived growth factor receptor inhibitors, vascular endothelial growth factor inhibitors, immunotherapy to stimulate the immune system, and somatostatin analogs which prevent the release of growth hormones.
Question: What is (are) Barraquer-Simons syndrome ?

Answer: Barraquer-Simons syndrome, or acquired partial lipodystrophy, is characterized by the loss of fat from the face, neck, shoulders, arms, forearms, chest and abdomen. Occasionally the groin or thighs are also affected. Onset usually begins in childhood following a viral illness. It affects females more often than males. The fat loss usually has a 18 month course, but can come and go over the course of several years.  Following puberty, affected women may experience a disproportionate accumulation of fat in the hips and lower limbs. Around 1 in 5 people with this syndrome develop membranoproliferative glomerulonephritis. This kidney condition usually develops more than 10 years after the lipodystrophy's onset. Autoimmune disorders may also occur in association with this syndrome.
Question: What is (are) Autoimmune polyglandular syndrome type 1 ?

Answer: Autoimmune polyglandular syndrome type 1 is an inherited autoimmune condition that affects many of the body's organs. Symptoms often begin in childhood or adolescence and may include mucocutaneous candidiasis, hypoparathyroidism, and Addison disease. Affected individuals typically have at least two of these features, and many have all three. This syndrome can cause a variety of additional signs and symptoms, although they occur less often. Complications of this disorder can affect the skin and nails, the gonads (ovaries and testicles), the eyes, the thyroid, and the digestive system. Type 1 diabetes also occurs in some patients with this condition. Mutations in the AIRE gene cause autoimmune polyglandular syndrome, type 1. This condition is inherited in an autosomal recessive fashion.
Question: What is (are) Primary hyperparathyroidism ?

Answer: Hyperparathyroidism is an endocrine disorder in which the parathyroid glands in the neck produce too much parathyroid hormone (PTH). Signs and symptoms are often mild and nonspecific, such as a feeling of weakness and fatigue, depression, or aches and pains. With more severe disease, a person may have a loss of appetite, nausea, vomiting, constipation, confusion or impaired thinking and memory, and increased thirst and urination. Patients may have thinning of the bones without symptoms, but with risk of fractures. There are two main types of hyperparathyroidism: primary hyperparathyroidism and secondary hyperparathyroidism. Surgery to remove the parathyroid gland(s) is the main treatment for the disorder. Some patients with mild disease do not require treatment.
Question: what research (or clinical trials) is being done for Essential Tremor ?

Answer: The National Institute of Neurological Disorders and Stroke, a unit of the National Institutes of Health (NIH) within the U.S. Department of Health and Human Services, is the nation's leading federal funder of research on disorders of the brain and nervous system. The NINDS sponsors research on tremor both at its facilities at the NIH and through grants to medical centers.
                
Scientists at the NINDS are evaluating the effectiveness of 1-octanol, a substance similar to alcohol but less intoxicating, for treating essential tremor. Results of two previous NIH studies have shown this agent to be promising as a potential new treatment.
                
Scientists are also studying the effectiveness of botulinum toxin as a treatment for a variety of involuntary movement disorders, including essential tremor of the hand.
Question: What is (are) Dystonias ?

Answer: The dystonias are movement disorders in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The movements, which are involuntary and sometimes painful, may affect a single muscle; a group of muscles such as those in the arms, legs, or neck; or the entire body. Early symptoms may include deterioration in handwriting, foot cramps, or a dragging foot after running or walking some distance. Other possible symptoms are tremor and voice or speech difficulties. About half the cases of dystonia have no connection to disease or injury and are called primary or idiopathic dystonia. Of the primary dystonias, many cases appear to be inherited. Dystonias can also be symptoms of other diseases, some of which may be hereditary. Dystonia can occur at any age, but is often described as either early, or childhood, onset versus adult onset.
Question: What are the genetic changes related to Rabson-Mendenhall syndrome ?

Answer: Rabson-Mendenhall syndrome results from mutations in the INSR gene. This gene provides instructions for making a protein called an insulin receptor, which is found in many types of cells. Insulin receptors are embedded in the outer membrane surrounding the cell, where they attach (bind) to insulin circulating in the bloodstream. This binding triggers signaling pathways that influence many cell functions.  The INSR gene mutations that cause Rabson-Mendenhall syndrome reduce the number of insulin receptors that reach the cell membrane or diminish the function of these receptors. Although insulin is present in the bloodstream, without enough functional receptors it is less able to exert its effects on cells and tissues. This severe resistance to the effects of insulin impairs blood sugar regulation and affects many aspects of development in people with Rabson-Mendenhall syndrome.