umarjan11/Medical-qna huggingface dataset:
Question: What are the treatments for autoimmune polyglandular syndrome, type 1 ?

Answer: These resources address the diagnosis or management of autoimmune polyglandular syndrome, type 1:  - Genetic Testing Registry: Autoimmune polyglandular syndrome type 1, autosomal dominant  - Genetic Testing Registry: Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia  - Genetic Testing Registry: Polyglandular autoimmune syndrome, type 1  - MedlinePlus Encyclopedia: Addison's Disease  - MedlinePlus Encyclopedia: Autoimmune Disorders  - MedlinePlus Encyclopedia: Cutaneous Candidiasis  - MedlinePlus Encyclopedia: Hypoparathyroidism   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Question: What are the genetic changes related to familial dysautonomia ?

Answer: Mutations in the IKBKAP gene cause familial dysautonomia.  The IKBKAP gene provides instructions for making a protein called IKK complex-associated protein (IKAP). This protein is found in a variety of cells throughout the body, including brain cells.  Nearly all individuals with familial dysautonomia have two copies of the same IKBKAP gene mutation in each cell. This mutation can disrupt how information in the IKBKAP gene is pieced together to make a blueprint for the production of IKAP protein. As a result of this error, a reduced amount of normal IKAP protein is produced. This mutation behaves inconsistently, however. Some cells produce near normal amounts of the protein, and other cellsparticularly brain cellshave very little of the protein. Critical activities in brain cells are probably disrupted by reduced amounts or the absence of IKAP protein, leading to the signs and symptoms of familial dysautonomia.
Question: What is (are) Urinary Retention ?

Answer: Urinary retention is the inability to empty the bladder completely. Urinary retention can be acute or chronic. Acute urinary retention happens suddenly and lasts only a short time. People with acute urinary retention cannot urinate at all, even though they have a full bladder. Acute urinary retention, a potentially life-threatening medical condition, requires immediate emergency treatment. Acute urinary retention can cause great discomfort or pain.
                
Chronic urinary retention can be a long-lasting medical condition. People with chronic urinary retention can urinate. However, they do not completely empty all of the urine from their bladders. Often people are not even aware they have this condition until they develop another problem, such as urinary incontinenceloss of bladder control, resulting in the accidental loss of urineor a urinary tract infection (UTI), an illness caused by harmful bacteria growing in the urinary tract.
Question: What is (are) Polycystic Kidney Disease ?

Answer: Polycystic kidney disease is a genetic disorder that causes numerous cysts to grow in the kidneys. A kidney cyst is an abnormal sac filled with fluid. PKD cysts can greatly enlarge the kidneys while replacing much of their normal structure, resulting in chronic kidney disease (CKD), which causes reduced kidney function over time. CKD may lead to kidney failure, described as end-stage kidney disease or ESRD when treated with a kidney transplant or blood-filtering treatments called dialysis. The two main types of PKD are autosomal dominant PKD and autosomal recessive PKD.
                
PKD cysts are different from the usually harmless simple cysts that often form in the kidneys later in life. PKD cysts are more numerous and cause complications, such as high blood pressure, cysts in the liver, and problems with blood vessels in the brain and heart.
Question: What is (are) Medicare and Continuing Care ?

Answer: Medicare does cover skilled nursing care after a 3-day qualifying hospital stay. Skilled care is health care given when the person needs skilled nursing or rehabilitation staff to manage, observe, and evaluate his or her care. Care that can be given by non-professional staff isn't considered skilled care. Medicare does not cover custodial care or adult day care. For more information on Medicare coverage of skilled nursing facility care, visit http://www.medicare.gov to look at or print a copy of the booklet "Medicare Coverage of Skilled Nursing Facility Care." (Under "Search Tools," select "Find a Medicare Publication.") You can also call 1-800-Medicare (1-800-633-4227) to find out if a free copy can be mailed to you. TTY users should call 1-877-486-2048.
Question: How to diagnose Dry Eye ?

Answer: Diagnosis of dry eye requires a comprehensive eye evaluation. Your eye care professional will ask you about your symptoms, your overall health (conditions for which you are treated, medications that you take), your eye history (use of contact lenses, past refractive or other eye surgery), and aspects of your daily environment (exposure to environmental allergens or occupational hazards). He or she will test your vision, check your eye pressure, examine your eyelids and front eye structures, and if necessary may dilate the pupils to examine the inside of the eye. Your eye care professional may order a tearing test to find out if your eyes are producing enough tears to keep them moist. In one type of test, called a Schirmers test, the doctor may measure your tear production by placing strips of blotting paper under your lower eyelids, usually done after numbing the eye with anesthetic drops. After a few minutes, the doctor removes the strips and measures the amount of tear production.
Question: What is (are) Bell's Palsy ?

Answer: Bell's palsy is the most common cause of facial paralysis. It usually affects just one side of the face. Symptoms appear suddenly and are at their worst about 48 hours after they start. They can range from mild to severe and include       - Twitching    - Weakness    - Paralysis    - Drooping eyelid or corner of mouth    - Drooling    - Dry eye or mouth    - Excessive tearing in the eye    - Impaired ability to taste       Scientists think that a viral infection makes the facial nerve swell or become inflamed. You are most likely to get Bell's palsy if you are pregnant, diabetic or sick with a cold or flu.    Three out of four patients improve without treatment. With or without treatment, most people begin to get better within 2 weeks and recover completely within 3 to 6 months.     NIH: National Institute of Neurological Disorders and Stroke
Question: What is (are) Jaundice ?

Answer: Jaundice causes your skin and the whites of your eyes to turn yellow. Too much bilirubin causes jaundice. Bilirubin is a yellow chemical in hemoglobin, the substance that carries oxygen in your red blood cells. As red blood cells break down, your body builds new cells to replace them. The old ones are processed by the liver. If the liver cannot handle the blood cells as they break down, bilirubin builds up in the body and your skin may look yellow.     Many healthy babies have some jaundice during the first week of life. It usually goes away. However, jaundice can happen at any age and may be a sign of a problem. Jaundice can happen for many reasons, such as       -  Blood diseases    -  Genetic syndromes    -  Liver diseases, such as hepatitis or cirrhosis    -  Blockage of bile ducts     -  Infections     -  Medicines
Question: What is (are) Eating Disorders ?

Answer: Eating disorders are serious behavior problems. They can include severe overeating or not consuming enough food to stay healthy. They also involve extreme concern about your shape or weight.    Types of eating disorders include       - Anorexia nervosa, in which you become too thin, but you don't eat enough because you think you are fat     - Bulimia nervosa, which involves periods of overeating followed by purging, sometimes through self-induced vomiting or using laxatives    - Binge-eating, which is out-of-control eating       Women are more likely than men to have eating disorders. They usually start in the teenage years and often occur along with depression, anxiety disorders, and substance abuse.    Eating disorders can lead to heart and kidney problems and even death. Getting help early is important. Treatment involves monitoring, talk therapy, nutritional counseling, and sometimes medicines.     NIH: National Institute of Mental Health
Question: What is (are) Male Infertility ?

Answer: Infertility is a term doctors use if a man hasn't been able to get a woman pregnant after at least one year of trying. Causes of male infertility include       - Physical problems with the testicles    - Blockages in the ducts that carry sperm    - Hormone problems    - A history of high fevers or mumps    - Genetic disorders    - Lifestyle or environmental factors       About a third of the time, infertility is because of a problem with the man. One third of the time, it is a problem with the woman. Sometimes no cause can be found.    If you suspect you are infertile, see your doctor. There are tests that may tell if you have fertility problems. When it is possible to find the cause, treatments may include medicines, surgery, or assisted reproductive technology. Happily, many couples treated for infertility are able to have babies.    NIH: National Institute of Child Health and Human Development
Question: What is (are) Sciatica ?

Answer: Sciatica is a symptom of a problem with the sciatic nerve, the largest nerve in the body. It controls muscles in the back of your knee and lower leg and provides feeling to the back of your thigh, part of your lower leg, and the sole of your foot. When you have sciatica, you have pain, weakness, numbness, or tingling. It can start in the lower back and extend down your leg to your calf, foot, or even your toes. It's usually on only one side of your body.    Causes of sciatica include       - A ruptured intervertebral disk    - Narrowing of the spinal canal that puts pressure on the nerve, called spinal stenosis    - An injury such as a pelvic fracture.       In many cases no cause can be found.    Sometimes sciatica goes away on its own. Treatment, if needed, depends on the cause of the problem. It may include exercises, medicines, and surgery.
Question: What is (are) Infectious Diseases ?

Answer: Infectious diseases kill more people worldwide than any other single cause. Infectious diseases are caused by germs. Germs are tiny living things that are found everywhere - in air, soil and water. You can get infected by touching, eating, drinking or breathing something that contains a germ. Germs can also spread through animal and insect bites, kissing and sexual contact. Vaccines, proper hand washing and medicines can help prevent infections.     There are four main kinds of germs:        -  Bacteria - one-celled germs that multiply quickly and may release chemicals which can make you sick    -  Viruses - capsules that contain genetic material, and use your own cells to multiply    -  Fungi - primitive plants, like mushrooms or mildew     -  Protozoa - one-celled animals that use other living things for food and a place to live       NIH: National Institute of Allergy and Infectious Diseases
Question: Do you have information about Angioplasty

Answer: Summary : If you have coronary artery disease, the arteries in your heart are narrowed or blocked by a sticky material called plaque. Angioplasty is a procedure to restore blood flow through the artery.    You have angioplasty in a hospital. The doctor threads a thin tube through a blood vessel in the arm or groin up to the involved site in the artery. The tube has a tiny balloon on the end. When the tube is in place, the doctor inflates the balloon to push the plaque outward against the wall of the artery. This widens the artery and restores blood flow.    Doctors may use angioplasty to       - Reduce chest pain caused by reduced blood flow to the heart    - Minimize damage to heart muscle from a heart attack       Many people go home the day after angioplasty, and are able to return to work within a week of coming home.    NIH: National Heart, Lung, and Blood Institute
Question: What is (are) Rosacea ?

Answer: Rosacea is a long-term disease that affects your skin and sometimes your eyes. It causes redness and pimples. Rosacea is most common in women and people with fair skin. It most often affects middle-aged and older adults.    In most cases, rosacea only affects the face. Symptoms can include       - Frequent redness of the face, or flushing     - Small, red lines under the skin    - Acne    - A swollen nose    - Thick skin, usually on the forehead, chin, and cheeks     - Red, dry, itchy eyes and sometimes vision problems        No one knows what causes rosacea. You may be more likely to have it if you blush a lot or if rosacea runs in your family. Rosacea is not dangerous. There is no cure, but treatments can help. They include medicines and sometimes surgery.    NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
Question: What is (are) Genetic Brain Disorders ?

Answer: A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. Genetic brain disorders affect the development and function of the brain.    Some genetic brain disorders are due to random gene mutations or mutations caused by environmental exposure, such as cigarette smoke. Other disorders are inherited, which means that a mutated gene or group of genes is passed down through a family. They can also be due to a combination of both genetic changes and other outside factors.    Some examples of genetic brain disorders include       - Leukodystrophies    - Phenylketonuria    - Tay-Sachs disease    - Wilson disease       Many people with genetic brain disorders fail to produce enough of certain proteins that influence brain development and function. These brain disorders can cause serious problems that affect the nervous system. Some have treatments to control symptoms. Some are life-threatening.
Question: What is (are) Usher Syndrome ?

Answer: Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder that causes your vision to get worse over time. It is the most common condition that affects both hearing and vision.    There are three types of Usher syndrome:       - People with type I are deaf from birth and have severe balance problems from a young age. Vision problems usually start by age 10 and lead to blindness.    - People with type II have moderate to severe hearing loss and normal balance. Vision problems start in the early teens and get worse more slowly than in type I.    - People with type III are born with normal hearing and near-normal balance but develop vision problems and then hearing loss.       There is no cure. Tools such as hearing aids or cochlear implants can help some people. Training such as Braille instruction, low-vision services, or auditory training can also help.    NIH: National Institute on Deafness and Other Communication Disorders
Question: What is (are) Type 1 plasminogen deficiency ?

Answer: Type 1 plasminogen deficiency is a genetic condition associated with chronic lesions in the pseudomembrane (tough, thick material) of the mucosa of the eye, mouth, nasopharynx, trachea, and female genital tract; decreased serum plasminogen activity; and decreased plasminogen antigen level. The lesions may be triggered by local injury and/or infection and often recur after removal of the lesion; they are caused by the deposition of fibrin (a protein involved in blood clotting) and by inflammation. The most common clinical finding is ligenous ('wood-like') conjunctivitis, a condition marked by redness and subsequent formation of pseudomembranes of part of the eye that progresses to white, yellow-white or red thick masses with a wood-like consistency that replace the normal mucosa. Hydrocephalus may be present at birth in a small number of individuals.
Question: What are the treatments for Cerebellar degeneration ?

Answer: How might cerebellar degeneration be treated? There is currently no cure for hereditary forms of cerebellar degeneration. In these cases, treatment is usually supportive and based on the signs and symptoms present in each person. For example, a variety of drugs may be used to treat gait abnormalities. Physical therapy can strengthen muscles, while special devices or appliances can assist in walking and other activities of daily life. In acquired (non-genetic and non-inherited) forms of cerebellar degeneration, some signs and symptoms may be reversible with treatment of the underlying cause. For example, paraneoplastic cerebellar degeneration may improve after successful treatment of the underlying cancer. For alcoholic/nutritional cerebellar degeneration, symptoms are often relieved with discontinuation of alcohol abuse, a normal diet and dietary supplementation with thiamine and other B vitamins.
Question: What is (are) Popliteal pterygium syndrome ?

Answer: Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip and/or a cleft palate. Affected individuals may have depressions (pits) near the center of the lower lip and small mounds of tissue on the lower lip. In some cases, people with popliteal pterygium syndrome have missing teeth. Other features may include webs of skin on the backs of the legs across the knee joint, webbing or fusion of the fingers or toes (syndactyly), characteristic triangular folds of skin over the nails of the large toes, and tissue connecting the upper and lower eyelids or the upper and lower jaw. Affected individuals may also have abnormal genitals. This condition is inherited in an autosomal dominant fashion and is caused by mutations in the IRF6 gene.
Question: What is (are) Subcortical band heterotopia ?

Answer: Subcortical band heterotopia, also known as double cortex syndrome, is a condition of abnormal brain development that is present from birth.  This condition which primarily affects females, occurs when neurons migrate to an area of the brain where they are not supposed to be (heterotopia), and form abnormal areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex (subcortical), creating the appearance of a double cortex. Symptoms associated with subcortical band heterotopia vary from severe intellectual disability and epilepsy to normal intelligence with mild or no epilepsy. Subcortical band heterotopia is most often caused by mutations in the DCX gene. The condition is inherited in an X-linked dominant pattern. Some cases may be caused by a small deletion on chromosome 17 involving the LIS1 gene. Management consists of seizure control.
Question: What is (are) Spinocerebellar ataxia autosomal recessive 7 ?

Answer: Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia.  Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements) and saccadic pursuit eye movements.  Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe.  SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner.
Question: What is (are) Multiple pterygium syndrome lethal type ?

Answer: Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia) of the neck, elbows, back of the knees, armpits, and fingers.  Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, and bone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition.
Question: What is (are) Lamellar ichthyosis ?

Answer: Lamellar ichthyosis is a rare genetic condition that affects the skin. Infants affected by lamellar ichthyosis are generally born with a shiny, waxy layer of skin (called a collodian membrane) that is typically shed within the first two weeks of life. The skin beneath the collodian membrane is red and scaly. Other signs and symptoms of the condition may include ectropion, lips that turn outwards, hair loss, palmoplantar hyperkeratosis (thick skin on the palms of the hands and/or soles of the feet), nail abnormalities, dehydration and respiratory problems. Although the condition may be caused by changes (mutations) in one of several different genes, approximately 90% of cases are caused by mutations in the TGM1 gene. Lamellar ichthyosis is generally inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
Question: What are the treatments for Achalasia ?

Answer: How might achalasia be treated? The aim of treatment is to reduce the pressure at the lower esophageal sphincter. Therapy may involve: Injection with botulinum toxin (Botox) to help relax the sphincter muscles (used as a temporary fix)  Medications, such as long-acting nitrates (i.e. isosorbide dinitrate) or calcium channel blockers (i.e. nifedipine), to relax the lower esophagus sphincter Surgery (Heller myotomy) to decrease the pressure in the lower sphincter Pneumatic balloon dilation of the esophagus at the location of the narrowing (done during esophagogastroduodenoscopy) You can learn more about these treatment options by clicking on the following links: eMedicine Esophageal Motility Disorders Merck Manuals Motility Disorders A doctor should help to determine the best treatment for each individual situation.
Question: What is (are) Progressive deafness with stapes fixation ?

Answer: Progressive deafness with stapes fixation, also known as Thies Reis syndrome, is a form of conductive or mixed hearing loss caused by fixation of the stapes. The stapes is one of the tiny bones in the middle ear. It rests in the entrance to the inner ear, allowing sounds to pass to the inner ear. If it becomes fixated, sound waves cannot pass through to the inner ear, resulting in loss of hearing. This condition may be associated with a number of conditions, including ostosclerosis, Paget's disease and osteogenesis imperfecta, or it may be found in isolation. It may also result from chronic ear infections (otitis media with tympanosclerosis). The progression of hearing loss is generally slow, rarely profound, and usually resolves following treatment. Conductive hearing loss can be restored through surgery or hearing aids. Sensorineural hearing loss can be managed with hearing aids or cochlear implants.
Question: What is (are) Roberts syndrome ?

Answer: Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities. Affected individuals are born with abnormalities of all four limbs and typically have shortened arm and leg bones (hypomelia). They may also have phocomelia (in severe cases); abnormal or missing fingers and toes; joint deformities (contractures); and numerous facial abnormalities including cleft lip with or without cleft palate; micrognathia; ear abnormalities; hypertelorism; down-slanting palpebral fissures; small nostrils; and a beaked nose. Microcephaly, intellectual disability, and heart, kidney or genital abnormalities may also be present. Infants with a severe form of Roberts syndrome are often stillborn or die shortly after birth, while mildly affected individuals may live into adulthood. It is caused by mutations in the ESCO2 gene and is inherited in an autosomal recessive pattern.