umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Frontonasal dysplasia ?

Answer: Frontonasal dysplasia is a very rare disorder that is characterized by abnormalities affecting the head and facial (craniofacial) region. Major physical features may include widely spaced eyes (ocular hypertelorism); a flat, broad nose; and a widow's peak hairline. In some cases, the tip of the nose may be missing; in more severe cases, the nose may separate vertically into two parts. In addition, an abnormal skin-covered gap in the front of the head (anterior cranium occultum) may also be present in some cases. Other features may include a cleft lip, other eye abnormalities (coloboma, cataract, microphthalmia), hearing loss, and/or agenesis of the corpus callosum. The majority of affected individuals have normal intelligence. The exact cause of frontonasal dysplasia is not known. Most cases occur randomly, for no apparent reason (sporadically). However, some cases are thought to run in families. Researchers have suggested that this condition is caused by mutations in the ALX3 gene and is inherited in an autosomal recessive fashion.
Question: What is (are) Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ?

Answer: Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is a genetic condition that causes blood vessels to become fragile. Signs and symptoms include muscle cramps, Raynaud phenomenon, kidney cysts, blood in the urine (typically not visible to the eye), leukoencephalopathy (a change in brain tissue that can be seen on MRI), arteries in the back of the eye that twist and turn abnormally, headaches, and supraventricular arrhythmia. These signs and symptoms do not often cause serious complications, however temporary vision loss due to bleeding in the back of the eye, minor ischemic stroke, and bleeding complications with blood thinner use has been described. While muscle cramps may begin in childhood, many of the other symptoms do not appear until later in life. HANAC syndrome is caused by mutations in the COL4A1 gene. It is passed through families in a autosomal dominant fashion.
Question: What are the treatments for Norum disease ?

Answer: How might Norum disease be treated? Symptomatic treatment for anemia, renal insufficiency, and atherosclerosis is indicated. LCAT gene therapy or liver transplantation theoretically would be a treatment of choice to correct the underlying pathophysiology, but neither procedure has been reported. Short-term whole blood or plasma transfusion has been tried to replace the LCAT enzyme in some patients with familial LCAT deficiency, but it did not correct anemia, proteinuria, or lipoprotein abnormalities. Renal replacement by dialysis is necessary in those individuals who develop kidney failure. Kidney transplantation is indicated in patients with familial LCAT deficiency and renal failure. Corneal transplantation is indicated in patients with corneal opacities with severely reduced vision. Restriction of fat intake may be advisable in patients with familial LCAT deficiency, but no evidence supports its potential benefits. Because of the small but measurable risk of atherosclerosis in persons with LCAT deficiency, exercise, under the guidance of a physician, theoretically would have a role in prevention of this complication.
Question: What are the symptoms of Necrotizing fasciitis ?

Answer: What are the signs and symptoms of necrotizing fasciitis? Symptoms often begin within hours of an injury. Intense pain and tenderness over the affected area are often considered the hallmark symptoms of necrotizing fasciitis (NF). The pain is often described as severe and may raise suspicion of a torn muscle. Some early symptoms may be mistaken for the flu and can include fever, sore throat, stomach ache, nausea, diarrhea, chills, and general body aches. The patient may notice redness around the area which spreads quickly; the affected area can eventually become swollen, shiny, discolored, and hot to the touch. In addition, there may be ulcers or blisters. If the infection continues to spread, the patient may experience the following: dehydration, high fever, fast heart rate, and low blood pressure. Pain may actually improve as tissues and the nerves are destroyed. As the infection spreads, vital organs may be affected and the patient may become confused or delirious. If not successfully treated, NF can lead to shock and eventual death.
Question: What is (are) Dihydrolipoamide dehydrogenase deficiency ?

Answer: Dihydrolipoamide dehydrogenase (DLD) deficiency is a very rare condition that can vary in age of onset, symptoms and severity. The condition may be characterized by early-onset lactic acidosis and delayed development (most commonly); later-onset neurological dysfunction; or adult-onset isolated liver disease. Signs and symptoms may include lactic acidosis shortly after birth; hypotonia and lethargy in infancy; feeding difficulties; seizures; and various other health issues. Liver problems can range from hepatomegaly to life-threatening liver failure. Symptoms often occur in episodes that may be triggered by illness or other stresses on the body. Many affected infants do not survive the first few years of life; those who survive through early childhood often have growth delay and intellectual disability. Some with onset later in childhood may have neurological dysfunction with normal cognitive development. DLD deficiency is caused by mutations in the DLD gene and is inherited in an autosomal recessive manner.
Question: What is (are) Guillain-Barre syndrome ?

Answer: Guillain-Barr syndrome is a rare disorder in which the body's immune system attacks part of the peripheral nervous system. Symptoms include muscle weakness, numbness, and tingling sensations, which can increase in intensity until the muscles cannot be used at all. Usually Guillain-Barr syndrome occurs a few days or weeks after symptoms of a viral infection. Occasionally, surgery or vaccinations will trigger the syndrome. It remains unclear why only some people develop Guillain-Barr syndrome but there may be a genetic predisposition in some cases. Diagnosed patients should be admitted to a hospital for early treatment. There is no cure for Guillain-Barr syndrome, but treatments such as plasma exchange (plasmapheresis) and high dose immunoglobulins may reduce the severity and duration of symptoms. Recovery can take as little as a few days to as long as a few years. About 30% of those with Guillain-Barr syndrome have residual weakness. A small number may suffer a relapse many years after the initial attack.
Question: What are the treatments for Coronary Microvascular Disease ?

Answer: Relieving pain is one of the main goals of treating coronary microvascular disease (MVD). Treatments also are used to control risk factors and other symptoms. Treatments may include medicines, such as:
                
ACE inhibitors and beta blockers to lower blood pressure and decrease the hearts workload
                
Aspirin to help prevent blood clots or control inflammation
                
Nitroglycerin to relax blood vessels, improve blood flow to the heart muscle, and treat chest pain
                
Statin medicines to control or lower your blood cholesterol.
                
Take all medicines regularly, as your doctor prescribes. Dont change the amount of your medicine or skip a dose unless your doctor tells you to.
                
If youre diagnosed with coronary MVD and also haveanemia, you may benefit from treatment for that condition. Anemia is thought to slow the growth of cells needed to repair damaged blood vessels.
                
If youre diagnosed with and treated for coronary MVD, you should get ongoing care from your doctor. Research is under way to find the best treatments for coronary MVD.
Question: What is (are) Corticobasal Degeneration ?

Answer: Corticobasal degeneration is a progressive neurological disorder characterized by nerve cell loss and atrophy (shrinkage) of multiple areas of the brain including the cerebral cortex and the basal ganglia. Corticobasal degeneration progresses gradually. Initial symptoms, which typically begin at or around age 60, may first appear on one side of the body (unilateral), but eventually affect both sides as the disease progresses. Symptoms are similar to those found in Parkinson disease, such as poor coordination, akinesia (an absence of movements), rigidity (a resistance to imposed movement), disequilibrium (impaired balance); and limb dystonia (abnormal muscle postures). Other symptoms such as cognitive and visual-spatial impairments, apraxia (loss of the ability to make familiar, purposeful movements), hesitant and halting speech, myoclonus (muscular jerks), and dysphagia (difficulty swallowing) may also occur. An individual with corticobasal degeneration eventually becomes unable to walk.
Question: what research (or clinical trials) is being done for Farber's Disease ?

Answer: 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. Research funded by the NINDS focuses on better understanding of how neurological deficits arise in lipid storage diseases and on the development of new treatments targeting disease mechanisms, including gene therapies, cell-based therapies and pharmacological approaches. The NINDS, along with other Institutes and Centers at the National Institutes of Health, supports the Lysosomal Disease network of centers that addresses some of the major challenges in the diagnosis, management, and therapy of rare diseases, including the lipid storage diseases.Research on lipid storage diseases within the Network includes longitudinal studies of the natural history and/or treatment of these disorders. Additional studies will emphasize the quantitative analysis of the central nervous system structure and function, and develop biomarkers (signs that can indicate the diagnosis or progression of a disease) for these disorders.
Question: What are the treatments for Guillain-Barr Syndrome ?

Answer: There is no known cure for Guillain-Barr syndrome, but therapies can lessen the severity of the illness and accelerate the recovery in most patients. There are also a number of ways to treat the complications of the disease. Currently, plasmapheresis (also known as plasma exchange) and high-dose immunoglobulin therapy are used. Plasmapheresis seems to reduce the severity and duration of the Guillain-Barr episode. In high-dose immunoglobulin therapy, doctors give intravenous injections of the proteins that in small quantities, the immune system uses naturally to attack invading organism. Investigators have found that giving high doses of these immunoglobulins, derived from a pool of thousands of normal donors, to Guillain-Barr patients can lessen the immune attack on the nervous system. The most critical part of the treatment for this syndrome consists of keeping the patient's body functioning during recovery of the nervous system. This can sometimes require placing the patient on a ventilator, a heart monitor, or other machines that assist body function.
Question: What are the genetic changes related to dilated cardiomyopathy with ataxia syndrome ?

Answer: Mutations in the DNAJC19 gene cause DCMA syndrome. The DNAJC19 gene provides instructions for making a protein found in structures called mitochondria, which are the energy-producing centers of cells. While the exact function of the DNAJC19 protein is unclear, it may regulate the transport of other proteins into and out of mitochondria.  The DNAJC19 gene mutations that cause DCMA syndrome lead to the production of an abnormally shortened protein that likely has impaired function. Researchers speculate that a lack of functional DNAJC19 protein alters the transport of other proteins into and out of the mitochondria. When too many or too few proteins move in and out of the mitochondria, energy production and mitochondrial survival can be reduced. Tissues that have high energy demands, such as the heart and the brain, are especially susceptible to decreases in cellular energy production. It is likely that this loss of cellular energy damages these and other tissues, leading to heart problems, movement difficulties, and other features of DCMA syndrome.
Question: What is (are) Koolen-de Vries syndrome ?

Answer: Koolen-de Vries syndrome is a disorder characterized by developmental delay and mild to moderate intellectual disability. People with this disorder typically have a disposition that is described as cheerful, sociable, and cooperative. They usually have weak muscle tone (hypotonia) in childhood. About half have recurrent seizures (epilepsy).  Affected individuals often have distinctive facial features including a high, broad forehead; droopy eyelids (ptosis); a narrowing of the eye openings (blepharophimosis); outer corners of the eyes that point upward (upward-slanting palpebral fissures); skin folds covering the inner corner of the eyes (epicanthal folds); a bulbous nose; and prominent ears. Males with Koolen-de Vries syndrome often have undescended testes (cryptorchidism). Defects in the walls between the chambers of the heart (septal defects) or other cardiac abnormalities, kidney problems, and skeletal anomalies such as foot deformities occur in some affected individuals.
Question: What are the genetic changes related to Perrault syndrome ?

Answer: Perrault syndrome has several genetic causes. C10orf2, CLPP, HARS2, LARS2, or HSD17B4 gene mutations have been found in a small number of affected individuals. The proteins produced from several of these genes, including C10orf2, CLPP, HARS2, and LARS2, function in cell structures called mitochondria, which convert the energy from food into a form that cells can use. Although the effect of these gene mutations on mitochondrial function is unknown, researchers speculate that disruption of mitochondrial energy production could underlie the signs and symptoms of Perrault syndrome.  The protein produced from the HSD17B4 gene is active in cell structures called peroxisomes, which contain a variety of enzymes that break down many different substances in cells. It is not known how mutations in this gene affect peroxisome function or lead to hearing loss in affected males and females and ovarian abnormalities in females with Perrault syndrome.  It is likely that other genes that have not been identified are also involved in this condition.
Question: Is spastic paraplegia type 2 inherited ?

Answer: This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. Because females have two copies of the X chromosome, one altered copy of the gene in each cell usually leads to less severe symptoms in females than in males, or may cause no symptoms at all. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.  In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. She can pass on the gene, but generally does not experience signs and symptoms of the disorder. Some females who carry a PLP1 mutation, however, may experience muscle stiffness and a decrease in intellectual function. Females with one PLP1 mutation have an increased risk of experiencing progressive deterioration of cognitive functions (dementia) later in life.
Question: What are the genetic changes related to Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant ?

Answer: The SBBYS variant of Ohdo syndrome is caused by mutations in the KAT6B gene. This gene provides instructions for making a type of enzyme called a histone acetyltransferase. These enzymes modify histones, which are structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a small molecule called an acetyl group to histones, histone acetyltransferases control the activity of certain genes. Little is known about the function of the histone acetyltransferase produced from the KAT6B gene. It appears to regulate genes that are important for early development, including development of the skeleton and nervous system.  The mutations that cause the SBBYS variant of Ohdo syndrome likely prevent the production of functional histone acetyltransferase from one copy of the KAT6B gene in each cell. Studies suggest that the resulting shortage of this enzyme impairs the regulation of various genes during early development. However, it is unclear how these changes lead to the specific features of the condition.
Question: What is (are) sepiapterin reductase deficiency ?

Answer: Sepiapterin reductase deficiency is a condition characterized by movement problems, most often a pattern of involuntary, sustained muscle contractions known as dystonia. Other movement problems can include muscle stiffness (spasticity), tremors, problems with coordination and balance (ataxia), and involuntary jerking movements (chorea). People with sepiapterin reductase deficiency can experience episodes called oculogyric crises. These episodes involve abnormal rotation of the eyeballs; extreme irritability and agitation; and pain, muscle spasms, and uncontrolled movements, especially of the head and neck. Movement abnormalities are often worse late in the day. Most affected individuals have delayed development of motor skills such as sitting and crawling, and they typically are not able to walk unassisted. The problems with movement tend to worsen over time.  People with sepiapterin reductase deficiency may have additional signs and symptoms including an unusually small head size (microcephaly), intellectual disability, seizures, excessive sleeping, and mood swings.
Question: What is (are) Vesicoureteral Reflux ?

Answer: The two types of VUR are primary and secondary. Most cases of VUR are primary and typically affect only one ureter and kidney. With primary VUR, a child is born with a ureter that did not grow long enough during the childs development in the womb. The valve formed by the ureter pressing against the bladder wall does not close properly, so urine refluxes from the bladder to the ureter and eventually to the kidney. This type of VUR can get better or disappear as a child gets older. As a child grows, the ureter gets longer and function of the valve improves.
                
Secondary VUR occurs when a blockage in the urinary tract causes an increase in pressure and pushes urine back up into the ureters. Children with secondary VUR often have bilateral reflux. VUR caused by a physical defect typically results from an abnormal fold of tissue in the urethra that keeps urine from flowing freely out of the bladder.
                
VUR is usually classified as grade I through V, with grade I being the least severe and grade V being the most severe.
Question: What are the symptoms of Alcohol Use and Older Adults ?

Answer: Its not always obvious that someone drinks too much. For older adults, clues to a possible alcohol problem include memory loss, depression, anxiety, poor appetite, unexplained bruises, falls, sleeping problems, and inattention to cleanliness or appearance. Answering "yes" to at least one of the following questions is also a sign of a possible drinking problem: - Have you ever felt you should cut down on your drinking?  - Have people annoyed you by criticizing your drinking?  - Have you ever felt bad or guilty about your drinking?  - Have you ever had a drink first thing in the morning to steady your nerves or get rid of a hangover? Have you ever felt you should cut down on your drinking? Have people annoyed you by criticizing your drinking? Have you ever felt bad or guilty about your drinking? Have you ever had a drink first thing in the morning to steady your nerves or get rid of a hangover? If you answered yes to any of these questions, talk with your health care provider. Also seek help if you feel you are having drinking-related problems with your health, relationships, or work.
Question: What are the symptoms of Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer ?

Answer: Signs and symptoms of ovarian, fallopian tube, or peritoneal cancer include pain or swelling in the abdomen. Ovarian, fallopian tube, or peritoneal cancer may not cause early signs or symptoms. When signs or symptoms do appear, the cancer is often advanced. Signs and symptoms may include the following:         - Pain, swelling, or a feeling of pressure in the abdomen or pelvis.    -  Vaginal bleeding that is heavy or irregular, especially after menopause.    - Vaginal discharge that is clear, white, or colored with blood.    - A lump in the pelvic area.    -  Gastrointestinal problems, such as gas, bloating, or constipation.        These signs and symptoms also may be caused by other conditions and not by ovarian, fallopian tube, or peritoneal cancer. If the signs or symptoms get worse or do not go away on their own, check with your doctor so that any problem can be diagnosed and treated as early as possible.
Question: What is (are) Pulmonary Hypertension ?

Answer: Pulmonary hypertension (PH) is high blood pressure in the arteries to your lungs. It is a serious condition. If you have it, the blood vessels that carry blood from your heart to your lungs become hard and narrow. Your heart has to work harder to pump the blood through. Over time, your heart weakens and cannot do its job and you can develop heart failure.     Symptoms of PH include       - Shortness of breath during routine activity, such as climbing two flights of stairs    - Tiredness    - Chest pain    - A racing heartbeat    - Pain on the upper right side of the abdomen    - Decreased appetite       As PH worsens, you may find it hard to do any physical activities.    There are two main kinds of PH. One runs in families or appears for no known reason. The other kind is related to another condition, usually heart or lung disease.     There is no cure for PH. Treatments can control symptoms. They involve treating the heart or lung disease, medicines, oxygen, and sometimes lung transplantation.    NIH: National Heart, Lung, and Blood Institute
Question: Do you have information about Traveler's Health

Answer: Summary : Traveling can increase your chances of getting sick. A long flight can increase your risk for deep vein thrombosis. Once you arrive, it takes time to adjust to the water, food, and air in another place. Water in developing countries can contain viruses, bacteria, and parasites that cause stomach upset and diarrhea. Be safe by using only bottled or purified water for drinking, making ice cubes, and brushing your teeth. If you use tap water, boil it or use iodine tablets. Food poisoning can also be a risk. Eat only food that is fully cooked and served hot. Avoid unwashed or unpeeled raw fruits and vegetables.    If you are traveling out of the country, you might also need vaccinations or medicines to prevent specific illnesses. Which ones you need will depend on what part of the world you're visiting, the time of year, your age, overall health status, and previous immunizations. See your doctor 4 to 6 weeks before your trip. Most vaccines take time to become effective.     Centers for Disease Control and Prevention