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

Answer: A coma, sometimes also called persistent vegetative state, is a profound or deep state of unconsciousness. Persistent vegetative state is not brain-death. An individual in a state of coma is alive but unable to move or respond to his or her environment. Coma may occur as a complication of an underlying illness, or as a result of injuries, such as head trauma. . Individuals in such a state have lost their thinking abilities and awareness of their surroundings, but retain non-cognitive function and normal sleep patterns. Even though those in a persistent vegetative state lose their higher brain functions, other key functions such as breathing and circulation remain relatively intact. Spontaneous movements may occur, and the eyes may open in response to external stimuli. Individuals may even occasionally grimace, cry, or laugh. Although individuals in a persistent vegetative state may appear somewhat normal, they do not speak and they are unable to respond to commands.
Question: Is congenital central hypoventilation syndrome inherited ?

Answer: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.  More than 90 percent of cases of CCHS result from new mutations in the PHOX2B gene. These cases occur in people with no history of the disorder in their family. Occasionally an affected person inherits the mutation from one affected parent. The number of such cases has been increasing as better treatment has allowed more affected individuals to live into adulthood.  About 5 to 10 percent of affected individuals inherit the mutation from a seemingly unaffected parent with somatic mosaicism. Somatic mosaicism means that some of the body's cells have a PHOX2B gene mutation, and others do not. A parent with mosaicism for a PHOX2B gene mutation may not show any signs or symptoms of CCHS.
Question: Is deafness-dystonia-optic neuronopathy syndrome inherited ?

Answer: DDON syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is 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. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause DDON syndrome. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. Females who carry one altered copy of the TIMM8A gene are typically unaffected; however, they may develop mild hearing loss and dystonia. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Question: What are the genetic changes related to congenital stromal corneal dystrophy ?

Answer: Congenital stromal corneal dystrophy is caused by mutations in the DCN gene. This gene provides instructions for making a protein called decorin, which is involved in the organization of collagens. Collagens are proteins that strengthen and support connective tissues such as skin, bone, tendons, and ligaments. In the cornea, well-organized bundles of collagen make the cornea transparent. Decorin ensures that collagen fibrils in the cornea are uniformly sized and regularly spaced.  Mutations in the DCN gene lead to the production of a defective version of decorin. This abnormal protein interferes with the organization of collagen fibrils in the cornea. As poorly arranged collagen fibrils accumulate, the cornea becomes cloudy. These corneal changes lead to reduced visual acuity and related eye abnormalities.
Question: What is (are) Greenberg dysplasia ?

Answer: Greenberg dysplasia is a severe condition characterized by specific bone abnormalities in the developing fetus. This condition is fatal before birth.  The bones of affected individuals do not develop properly, causing a distinctive spotted appearance called moth-eaten bone, which is visible on x-ray images. In addition, the bones have abnormal calcium deposits (ectopic calcification). Affected individuals have extremely short bones in the arms and legs and abnormally flat vertebrae (platyspondyly). Other skeletal abnormalities may include short ribs and extra fingers (polydactyly). In addition, affected fetuses have extensive swelling of the body caused by fluid accumulation (hydrops fetalis). Greenberg dysplasia is also called hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM), which reflects the condition's most common features.
Question: What are the treatments for Mabry syndrome ?

Answer: These resources address the diagnosis or management of Mabry syndrome:  - Genetic Testing Registry: Hyperphosphatasia with mental retardation syndrome  - Genetic Testing Registry: Hyperphosphatasia with mental retardation syndrome 1  - Genetic Testing Registry: Hyperphosphatasia with mental retardation syndrome 2  - Genetic Testing Registry: Hyperphosphatasia with mental retardation syndrome 3  - MedlinePlus Encyclopedia: ALP Isoenzyme Test  - MedlinePlus Encyclopedia: ALP--Blood Test  - Seattle Children's Hospital: Hirschsprung's Disease--Treatments   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 acral peeling skin syndrome ?

Answer: Acral peeling skin syndrome is caused by mutations in the TGM5 gene. This gene provides instructions for making an enzyme called transglutaminase 5, which is a component of the outer layer of skin (the epidermis). Transglutaminase 5 plays a critical role in the formation of a structure called the cornified cell envelope, which surrounds epidermal cells and helps the skin form a protective barrier between the body and its environment.  TGM5 gene mutations reduce the production of transglutaminase 5 or prevent cells from making any of this protein. A shortage of transglutaminase 5 weakens the cornified cell envelope, which allows the outermost cells of the epidermis to separate easily from the underlying skin and peel off. This peeling is most noticeable on the hands and feet probably because those areas tend to be heavily exposed to moisture and friction.
Question: Is Birt-Hogg-Dub syndrome inherited ?

Answer: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered FLCN gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Less commonly, the condition results from a new mutation in the gene and occurs in people with no history of the disorder in their family.  Having a single mutated copy of the FLCN gene in each cell is enough to cause the skin tumors and lung problems associated with Birt-Hogg-Dub syndrome. However, both copies of the FLCN gene are often mutated in the kidney tumors that occur with this condition. One of the mutations is inherited from a parent, while the other occurs by chance in a kidney cell during a person's lifetime. These genetic changes disable both copies of the FLCN gene, which allows kidney cells to divide uncontrollably and form tumors.
Question: How many people are affected by porphyria ?

Answer: The exact prevalence of porphyria is unknown, but it probably ranges from 1 in 500 to 1 in 50,000 people worldwide. Overall, porphyria cutanea tarda is the most common type of porphyria. For some forms of porphyria, the prevalence is unknown because many people with a genetic mutation associated with the disease never experience signs or symptoms.  Acute intermittent porphyria is the most common form of acute porphyria in most countries. It may occur more frequently in northern European countries, such as Sweden, and in the United Kingdom. Another form of the disorder, hereditary coproporphyria, has been reported mostly in Europe and North America. Variegate porphyria is most common in the Afrikaner population of South Africa; about 3 in 1,000 people in this population have the genetic change that causes this form of the disorder.
Question: What are the genetic changes related to Gillespie syndrome ?

Answer: Gillespie syndrome can be caused by mutations in the PAX6 gene. The PAX6 gene provides instructions for making a protein that is involved in early development, including the development of the eyes and brain. The PAX6 protein attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this role, the PAX6 protein is called a transcription factor.  Mutations in the PAX6 gene result in the absence of the PAX6 protein or production of a nonfunctional PAX6 protein that is unable to bind to DNA and regulate the activity of other genes. This lack of functional protein disrupts embryonic development, especially the development of the eyes and brain, leading to the signs and symptoms of Gillespie syndrome.  Most people with Gillespie syndrome do not have mutations in the PAX6 gene. In these affected individuals, the cause of the disorder is unknown.
Question: How to prevent What I need to know about Cirrhosis ?

Answer: To prevent cirrhosis,
                
- see your doctor for treatment of your liver disease. Many of the causes of cirrhosis are treatable. Early treatment may prevent cirrhosis.   - try to keep your weight in the normal range. Being overweight can make several liver diseases worse.   - do not drink any alcohol. Alcohol can harm liver cells. Drinking large amounts of alcohol over many years is one of the major causes of cirrhosis.   - do not use illegal drugs, which can increase your chances of getting hepatitis B or hepatitis C.   - see your doctor if you have hepatitis. Treatments for hepatitis B, C, and D are available. If you are on treatment, carefully follow your treatment directions.   - if you have autoimmune hepatitis, take your medicines and have regular checkups as recommended by your doctor or a liver specialist.
Question: What to do for Proctitis ?

Answer: Drinking plenty of fluids is important when diarrhea or frequent passage of loose or liquid stools occurs.
                
Avoiding caffeine and foods that are greasy, high in fiber, or sweet may lessen diarrhea symptoms. Some people also have problems digesting lactosethe sugar found in milk and milk productsduring or after a bout of diarrhea. Yogurt, which has less lactose than milk, is often better tolerated. Yogurt with active, live bacterial cultures may even help people recover from diarrhea more quickly.
                
If diarrhea symptoms improve, soft, bland foods can be added to the diet, including bananas, plain rice, boiled potatoes, toast, crackers, cooked carrots, and baked chicken without the skin or fat. If the diarrhea stops, a normal diet may be resumed if tolerated.
Question: How to diagnose Creating a Family Health History ?

Answer: Genetic testing may be helpful whether the test identifies a mutation or not. Test results can -  serve as a relief, eliminating some of the uncertainty about a health condition  - help doctors make recommendations for treatment or monitoring  - give people information to use in making decisions about their and their familys health  - help people take steps to lower the chance of developing a disease through, for example, earlier and more frequent screening or changes in diet and exercise habits   - help people make informed choices about their future, such as whether to have a baby.  serve as a relief, eliminating some of the uncertainty about a health condition help doctors make recommendations for treatment or monitoring give people information to use in making decisions about their and their familys health help people take steps to lower the chance of developing a disease through, for example, earlier and more frequent screening or changes in diet and exercise habits help people make informed choices about their future, such as whether to have a baby.
Question: What are the treatments for Heart Failure ?

Answer: There is no cure for heart failure, but it can be controlled by treating the underlying conditions that cause it. Treatment for heart failure will depend on the type and stage of heart failure (the severity of the condition). The goals for treatment of all stages of heart failure are to reduce symptoms, treat the cause (such as heart disease, high blood pressure, or diabetes), stop the disease from worsening, and prolong life. Treatments for Heart Failure Treatments for heart failure include - lifestyle changes  - medications  - specialized care for those who are in the advanced stages. lifestyle changes medications specialized care for those who are in the advanced stages. Treatment for heart failure will reduce the chances that you will have to go to the hospital and make it easier for you to do the things you like to do. It is very important that you follow your treatment plan by keeping doctor appointments, taking medications, and making lifestyle changes.
Question: What is (are) Oxygen Therapy ?

Answer: Oxygen therapy is a treatment that provides you with extra oxygen. Oxygen is a gas that your body needs to function. Normally, your lungs absorb oxygen from the air you breathe. But some conditions can prevent you from getting enough oxygen.    You may need oxygen if you have       - COPD (chronic obstructive pulmonary disease)    - Pneumonia    - A severe asthma attack    - Late-stage heart failure    - Cystic fibrosis    - Sleep apnea       The oxygen comes through nasal prongs, a mask, or a breathing tube. If you have a chronic problem, you may have a portable oxygen tank or a machine in your home.    A different kind of oxygen therapy is called hyperbaric oxygen therapy. It uses oxygen at high pressure to treat wounds and serious infections.    NIH: National Heart, Lung, and Blood Institute
Question: Do you have information about MRI Scans

Answer: Summary : Magnetic resonance imaging (MRI) uses a large magnet and radio waves to look at organs and structures inside your body. Health care professionals use MRI scans to diagnose a variety of conditions, from torn ligaments to tumors. MRIs are very useful for examining the brain and spinal cord.     During the scan, you lie on a table that slides inside a tunnel-shaped machine. Doing the scan can take a long time, and you must stay still. The scan is painless. The MRI machine makes a lot of noise. The technician may offer you earplugs.    Before you get a scan, tell your doctor if you        - Are pregnant     - Have pieces of metal in your body. You might have metal in your body if you have a shrapnel or bullet injury or if you are a welder.    - Have metal or electronic devices in your body, such as a cardiac pacemaker or a metal artificial joint
Question: What is (are) Mycobacterial Infections ?

Answer: Mycobacteria are a type of germ. There are many different kinds. The most common one causes tuberculosis. Another one causes leprosy. Still others cause infections that are called atypical mycobacterial infections. They aren't "typical" because they don't cause tuberculosis. But they can still harm people, especially people with other problems that affect their immunity, such as AIDS.    Sometimes you can have these infections with no symptoms at all. At other times, they can cause lung symptoms similar to tuberculosis:       - Cough    - Weight loss    - Coughing up blood or mucus    - Weakness or fatigue    - Fever and chills    - Night sweats    - Lack of appetite and weight loss       Medicines can treat these infections, but often more than one is needed to cure the infection.
Question: Do you have information about Body Weight

Answer: Summary : Do you know if your current weight is healthy? "Underweight", "normal", "overweight", and "obese" are all labels for ranges of weight. Obese and overweight mean that your weight is greater than it should be for your health. Underweight means that it is lower than it should be for your health. Your healthy body weight depends on your sex and height. For children, it also depends on your age.    A sudden, unexpected change in weight can be a sign of a medical problem. Causes for sudden weight loss can include       - Thyroid problems    - Cancer    - Infectious diseases    - Digestive diseases    - Certain medicines       Sudden weight gain can be due to medicines, thyroid problems, heart failure, and kidney disease.    Good nutrition and exercise can help in losing weight. Eating extra calories within a well-balanced diet and treating any underlying medical problems can help to add weight.
Question: Do you have information about Advance Directives

Answer: Summary : What kind of medical care would you want if you were too ill or hurt to express your wishes? Advance directives are legal documents that allow you to spell out your decisions about end-of-life care ahead of time. They give you a way to tell your wishes to family, friends, and health care professionals and to avoid confusion later on.     A living will tells which treatments you want if you are dying or permanently unconscious. You can accept or refuse medical care. You might want to include instructions on       - The use of dialysis and breathing machines    -  If you want to be resuscitated if your breathing or heartbeat stops     -  Tube feeding    -  Organ or tissue donation         A durable power of attorney for health care is a document that names your health care proxy. Your proxy is someone you trust to make health decisions for you if you are unable to do so.     NIH: National Cancer Institute
Question: Do you have information about Arsenic

Answer: Summary : Arsenic is a natural element found in soil and minerals. Arsenic compounds are used to preserve wood, as pesticides, and in some industries. Arsenic can get into air, water, and the ground from wind-blown dust. It may also get into water from runoff.     You may be exposed to arsenic by       - Taking in small amounts in food, drinking water, or air     - Breathing sawdust or burning smoke from arsenic-treated wood     - Living in an area with high levels of arsenic in rock    - Working in a job where arsenic is made or used       Exposure to arsenic can cause many health problems. Being exposed to low levels for a long time can change the color of your skin. It can cause corns and small warts. Exposure to high levels of arsenic can cause death.    Agency for Toxic Substances Disease Registry
Question: What is (are) Perniosis ?

Answer: Perniosis are itchy and/or tender red or purple bumps that occur as a reaction to cold. In severe cases, blistering, pustules, scabs and ulceration may also develop. Occasionally, the lesions may be ring-shaped. They may become thickened and persist for months. Perniosis is a form of vasculitis. Signs and symptoms occur hours after cold exposure. Risk factors for perniosis include having poor blood circulation (such as due to diabetes or smoking), a family history of perniosis, poor nutrition, and low body weight. Perniosis may occur alone or in association with an autoimmune condition (e.g., lupus, scleroderma), bone marrow disorder, or cancer. Treatment aims to relieve symptoms and prevent infection. Lifestyle/adaptive changes may also be recommended to prevent future symptoms.
Question: What causes Schwartz Jampel syndrome type 1 ?

Answer: What causes Schwartz Jampel syndrome type 1? Schwartz Jampel syndrome type 1 (SJS1) is caused by mutations in the HSPG2 gene. The HSPG2 gene codes for the protein perlecan, which is found in muscle and cartilage. Although the role of the perlecan protein is not fully understood, it is thought to play an essential role in many biological activities such as cell signaling and cellular structure. In SJS1, it is suspected that a disturbance in perlecan function leads to a deficiency of acetylcholinesterase, an enzyme involved in breaking down acetylcholine, a neurotransmitter that sends messages between nerves, leading to muscle contraction. If acetylcholine is not broken down, it may lead to an prolonged muscle contraction or stiffening of the muscles (myotonia).
Question: What are the treatments for Swyer-James syndrome ?

Answer: How might Swyer-James syndrome be treated? Individuals with Swyer-James syndrome reportedly have been treated conservatively in the past. However, although there are few reports published, it has been recognized that surgical treatment should be considered when infections cannot be controlled. There have been reports of affected individuals being treated with pneumonectomy (removal of a lung), lobectomy (removal of one or more lobes of a lung) or segmentectomy (removal of a specific segment). It has been proposed that individuals with Swyer-James syndrome may benefit from lung volume reduction surgery (LVRS), a procedure in which damaged tissue is removed from the lung. LVRS was reportedly performed successfully in an individual with Swyer-James syndrome, and it has been suggested that the procedure could be used for managing the condition in other affected individuals because it has shown to be effective for improving pulmonary function and symptoms.
Question: What is (are) Junctional epidermolysis bullosa ?

Answer: Junctional epidermolysis bullosa (JEB) is a type of Epidermolysis Bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily.  JEB is separated into two categories: the Herlitz type and the Non-Herlitz type. The Herlitz type of JEB is very severe, and individuals with this condition often do not survive infancy. The Non-Herlitz type includes several subtypes that cause mild to severe blistering of the skin present at birth or shortly thereafter.   JEB is inherited in an autosomal recessive pattern. It is caused by mutations in the LAMB3, COL17A1, or LAMC2, and LAMA3 genes.There is no cure for JEB. Treatment is focused on management of blistering and prevention of secondary infections.
Question: How to diagnose Olivopontocerebellar atrophy ?

Answer: How is olivopontocerebellar atrophy diagnosed? A diagnosis of olivopontocerebellar atrophy (OPCA) may be based on a thorough medical exam; the presence of signs and symptoms; imaging studies; various laboratory tests; and an evaluation of the family history. MRI of the brain may show characteristics of OPCA, such as specific changes in the size of affected parts of the brain. This is more likely as the disease progresses; it is possible to have OPCA and have a normal brain MRI (especially within the first year of symptom onset). Hereditary OPCA may be suspected based on having a family history, and may be diagnosed by genetic testing (when available) for the condition suspected or known to be present in the family. Sporadic OPCA may be diagnosed if hereditary forms of OPCA, and other conditions associated with OPCA, have been ruled out.
Question: What is (are) Cheilitis glandularis ?

Answer: Cheilitis glandularis is a rare inflammatory disorder of the lip. It is mainly characterized by swelling of the lip with hyperplasia of the salivary glands; secretion of a clear, thick mucus; and variable inflammation. Enlargement and chronic exposure of the mucous membrane on the lower lip becomes affected by the environment, leading to erosion, ulceration, crusting, and, occasionally, infection. Cheilitis glandularis is more common in adult males, although cases have been described in women and children. In Caucasians, it is associated with a relatively high incidence of squamous cell carcinoma of the lip. Although there may be a genetic susceptibility, no definitive cause has been established. Treatment may include surgical excision by vermilionectomy (sometimes called a lip shave), but treatment varies for each individual.