umarjan11/Medical-qna huggingface dataset:
Question: What are the genetic changes related to prothrombin thrombophilia ?

Answer: Prothrombin thrombophilia is caused by a particular mutation in the F2 gene. The F2 gene plays a critical role in the formation of blood clots in response to injury. The protein produced from the F2 gene, prothrombin (also called coagulation factor II), is the precursor to a protein called thrombin that initiates a series of chemical reactions in order to form a blood clot. The particular mutation that causes prothrombin thrombophilia results in an overactive F2 gene that causes too much prothrombin to be produced. An abundance of prothrombin leads to more thrombin, which promotes the formation of blood clots.  Other factors also increase the risk of blood clots in people with prothrombin thrombophilia. These factors include increasing age, obesity, trauma, surgery, smoking, the use of oral contraceptives (birth control pills) or hormone replacement therapy, and pregnancy. The combination of prothrombin thrombophilia and mutations in other genes involved in blood clotting can also influence risk.
Question: What is (are) acatalasemia ?

Answer: Acatalasemia is a condition characterized by very low levels of an enzyme called catalase. Many people with acatalasemia never have any health problems related to the condition and are diagnosed because they have affected family members.  Some of the first reported individuals with acatalasemia developed open sores (ulcers) inside the mouth that led to the death of soft tissue (gangrene). When mouth ulcers and gangrene occur with acatalasemia, the condition is known as Takahara disease. These complications are rarely seen in more recent cases of acatalasemia, probably because of improvements in oral hygiene.  Studies suggest that people with acatalasemia have an increased risk of developing type 2 diabetes mellitus, which is the most common form of diabetes. A higher percentage of people with acatalasemia have type 2 diabetes mellitus than in the general population, and the disease tends to develop at an earlier age (in a person's thirties or forties, on average). Researchers speculate that acatalasemia could also be a risk factor for other common, complex diseases; however, only a small number of cases have been studied.
Question: What are the genetic changes related to GM3 synthase deficiency ?

Answer: Mutations in the ST3GAL5 gene have been found to cause GM3 synthase deficiency. This gene provides instructions for making an enzyme called GM3 synthase, which carries out a chemical reaction that is the first step in the production of molecules called gangliosides. These molecules are present in cells and tissues throughout the body, and they are particularly abundant in the nervous system. Although their exact functions are unclear, gangliosides appear to be important for normal brain development and function.  ST3GAL5 gene mutations prevent the production of any functional GM3 synthase. Without this enzyme, cells cannot produce gangliosides normally. It is unclear how a loss of this enzyme leads to the signs and symptoms of GM3 synthase deficiency. Researchers are working to determine whether it is the lack of gangliosides or a buildup of compounds used to make gangliosides, or both, that underlies the seizures and other problems with brain development that occur in this condition. The connection between a shortage of GM3 synthase and changes in skin pigmentation is also unknown.
Question: Is X-linked agammaglobulinemia inherited ?

Answer: This condition 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 the disorder. 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. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.  About half of affected individuals do not have a family history of XLA. In most of these cases, the affected person's mother is a carrier of one altered BTK gene. Carriers do not have the immune system abnormalities associated with XLA, but they can pass the altered gene to their children. In other cases, the mother is not a carrier and the affected individual has a new mutation in the BTK gene.
Question: What are the genetic changes related to Fabry disease ?

Answer: Fabry disease is caused by mutations in the GLA gene. This gene provides instructions for making an enzyme called alpha-galactosidase A. This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. Alpha-galactosidase A normally breaks down a fatty substance called globotriaosylceramide. Mutations in the GLA gene alter the structure and function of the enzyme, preventing it from breaking down this substance effectively. As a result, globotriaosylceramide builds up in cells throughout the body, particularly cells lining blood vessels in the skin and cells in the kidneys, heart, and nervous system. The progressive accumulation of this substance damages cells, leading to the varied signs and symptoms of Fabry disease.  GLA gene mutations that result in an absence of alpha-galactosidase A activity lead to the classic, severe form of Fabry disease. Mutations that decrease but do not eliminate the enzyme's activity usually cause the milder, late-onset forms of Fabry disease that affect only the heart or kidneys.
Question: What is (are) distal myopathy 2 ?

Answer: Distal myopathy 2 is a condition characterized by weakness of specific muscles that begins in adulthood. It is a form of muscular dystrophy that specifically involves muscles in the throat, lower legs, and forearms. Muscles farther from the center of the body, like the muscles of the lower legs and forearms, are known as distal muscles.  Muscle weakness in the ankles is usually the first symptom of distal myopathy 2. The weakness can also affect muscles in the hands, wrists, and shoulders. At first, the muscle weakness may be on only one side of the body, but both sides are eventually involved. This muscle weakness can slowly worsen and make actions like walking and lifting the fingers difficult.  Another characteristic feature of distal myopathy 2 is weakness of the vocal cords and throat. This weakness initially causes the voice to sound weak or breathy (hypophonic). Eventually, the voice becomes gurgling, hoarse, and nasal. The weakness can also cause difficulty swallowing (dysphagia).
Question: What are the genetic changes related to COG5-congenital disorder of glycosylation ?

Answer: COG5-CDG is caused by mutations in the COG5 gene, which provides instructions for making one piece of a group of proteins known as the conserved oligomeric Golgi (COG) complex. This complex functions in the Golgi apparatus, which is a cellular structure in which newly produced proteins are modified. One process that occurs in the Golgi apparatus is glycosylation, by which sugar molecules (oligosaccharides) are attached to proteins and fats. Glycosylation modifies proteins so they can perform a wider variety of functions.  The COG complex takes part in the transport of proteins, including those that perform glycosylation, in the Golgi apparatus. COG5 gene mutations reduce the amount of COG5 protein or eliminate it completely, which disrupts protein transport. This disruption results in abnormal protein glycosylation, which can affect numerous body systems, leading to the signs and symptoms of COG5-CDG. The severity of COG5-CDG is related to the amount of COG5 protein that remains in cells.
Question: What is (are) What I need to know about Diverticular Disease ?

Answer: Eat a high-fiber diet to help prevent problems. Talk to your doctor about using fiber products like Benefiber, Citrucel, or Metamucil. Daily use can help you get the fiber you need if you do not get it through your diet.
                
Ask your doctor about which food choices are right for you.
                
Eating foods high in fiber is simple and can help reduce diverticular disease symptoms and problems.
                
Try eating more of the following:
                
- Fruit. Raw apples, peaches, pears, and tangerines.  - Vegetables. Fresh broccoli, squash, carrots, and brussels sprouts.  - Starchy vegetables. Potatoes, baked beans, kidney beans, and lima beans.  - Grains. Whole-wheat bread, brown rice, bran flake cereal, and oatmeal.
                
Talk with your doctor about making diet changes. Learn what to eat and how to put more of these high-fiber foods in your diet.
Question: What to do for Proctitis ?

Answer: - Proctitis is inflammation of the lining of the rectum, the lower end of the large intestine leading to the anus.  - Common causes of proctitis are sexually transmitted diseases (STDs), non-STD infections, anorectal trauma, ulcerative colitis and Crohns disease, radiation therapy, and antibiotic use.  - Treatment of proctitis depends on its cause; the goal of treatment is to reduce inflammation, control symptoms, and eliminate infection, if present.  - With proper medical attention, proctitis can be successfully treated.  - If infection is present with proctitis, antibiotics can be used to kill bacteria and antiviral medications can treat viral infections.  - People who receive anal sex can avoid getting STD-related proctitis by having their partner use a condom.  - If anorectal trauma caused proctitis, stopping the activity that triggered inflammation often will stop the inflammation and prevent recurrence.  - Some causes of proctitis cannot always be prevented, but their symptoms can be treated by a doctor.
Question: How to diagnose Problems with Smell ?

Answer: Scientists have developed tests to determine the nature and extent of a person's smell disorder. Tests measure the smallest amount of odor patients can detect as well as how accurately a person can identify different smells. An easily administered "scratch and sniff" test allows a person to scratch pieces of paper treated to release different odors, sniff them, and try to identify each odor from a list of possibilities. In this way, doctors can determine whether a person has a decreased ability to smell (hyposmia), the inability to detect any odors (anosmia), or another kind of smell disorder. In some cases, your doctor may need to perform a nasal examination with a nasal endoscope, an instrument that illuminates and magnifies the areas of the nose where the problem may exist. This test can help identify the area and extent of the problem and help your doctor select the right treatment. If your doctor suspects that upper regions of the nose and nasal sinuses that can't be seen by an endoscope are involved, he or she may order a specialized X-ray procedure, usually a CT scan, to look further into the nose and sinuses.
Question: What are the symptoms of Childhood Astrocytomas ?

Answer: The signs and symptoms of astrocytomas are not the same in every child. Signs and symptoms depend on the following:          - Where the tumor forms in the brain or spinal cord.    - The size of the tumor.    - How fast the tumor grows.    - The child's age and development.        Some tumors do not cause signs or symptoms. Signs and symptoms may be caused by childhood astrocytomas or by other conditions. Check with your child's doctor if your child has any of the following:         - Morning headache or headache that goes away after vomiting.    -  Nausea and vomiting.    - Vision, hearing, and speech problems.     - Loss of balance and trouble walking.     - Worsening handwriting or slow speech.    - Weakness or change in feeling on one side of the body.    - Unusual sleepiness.    - More or less energy than usual.    - Change in personality or behavior.    -  Seizures.    - Weight loss or weight gain for no known reason.     - Increase in the size of the head (in infants).
Question: What is (are) Lung Cancer ?

Answer: Lung cancer is one of the most common cancers in the world. It is a leading cause of cancer death in men and women in the United States. Cigarette smoking causes most lung cancers. The more cigarettes you smoke per day and the earlier you started smoking, the greater your risk of lung cancer. High levels of pollution, radiation and asbestos exposure may also increase risk.     Common symptoms of lung cancer include       - A cough that doesn't go away and gets worse over time    - Constant chest pain    - Coughing up blood    - Shortness of breath, wheezing, or hoarseness    - Repeated problems with pneumonia or bronchitis    - Swelling of the neck and face    - Loss of appetite or weight loss    - Fatigue       Doctors diagnose lung cancer using a physical exam, imaging, and lab tests. Treatment depends on the type, stage, and how advanced it is. Treatments include surgery, chemotherapy, radiation therapy, and targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells.    NIH: National Cancer Institute
Question: What is (are) Botulism ?

Answer: Botulism is a rare but serious illness. The cause is a toxin (poison) made by a bacterium called Clostridium botulinum. It occurs naturally in soil.     There are several kinds of botulism. Foodborne botulism comes from eating foods contaminated with the toxin. Wound botulism happens when a wound infected with the bacteria makes the toxin. It is more common in heroin users. Infant botulism happens when a baby consumes the spores of the bacteria from soil or honey. All forms can be deadly and are medical emergencies.    Symptoms include double or blurred vision, drooping eyelids, slurred speech, difficulty swallowing, dry mouth, and muscle weakness. Treatment may include antitoxins, intensive medical care, or surgery of infected wounds.    To prevent botulism:       -  Be very careful when canning foods at home    -  Do not let babies eat honey    - Get prompt medical care for infected wounds       Centers for Disease Control and Prevention
Question: What is (are) Indigestion ?

Answer: Nearly everyone has had indigestion at one time. It's a feeling of discomfort or a burning feeling in your upper abdomen. You may have heartburn or belch and feel bloated. You may also feel nauseated, or even throw up.    You might get indigestion from eating too much or too fast, eating high-fat foods, or eating when you're stressed. Smoking, drinking too much alcohol, using some medicines, being tired, and having ongoing stress can also cause indigestion or make it worse. Sometimes the cause is a problem with the digestive tract, like an ulcer or GERD.    Avoiding foods and situations that seem to cause it may help. Because indigestion can be a sign of a more serious problem, see your health care provider if it lasts for more than two weeks or if you have severe pain or other symptoms. Your health care provider may use x-rays, lab tests, and an upper endoscopy to diagnose the cause. You may need medicines to treat the symptoms.    NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Question: What is (are) Klinefelter's Syndrome ?

Answer: Klinefelter syndrome (KS) is a condition that occurs in men who have an extra X chromosome. The syndrome can affect different stages of physical, language, and social development.    The most common symptom is infertility. Boys may be taller than other boys their age, with more fat around the belly. After puberty, KS boys may have       - Smaller testes and penis    - Breast growth    - Less facial and body hair    - Reduced muscle tone    - Narrower shoulders and wider hips    - Weaker bones    - Decreased sexual interest    - Lower energy       KS males may have learning or language problems. They may be quiet and shy and have trouble fitting in.    A genetic test can diagnose KS. There is no cure, but treatments are available. It is important to start treatment as early as possible. With treatment, most boys grow up to have normal lives.    Treatments include testosterone replacement therapy and breast reduction surgery. If needed, physical, speech, language, and occupational therapy may also help.    NIH: National Institute of Child Health and Human Development
Question: What is (are) Joint Disorders ?

Answer: A joint is where two or more bones come together, like the knee, hip, elbow, or shoulder. Joints can be damaged by many types of injuries or diseases, including       - Arthritis - inflammation of a joint. It causes pain, stiffness, and swelling. Over time, the joint can become severely damaged.    - Bursitis - inflammation of a fluid-filled sac that cushions the joint    - Dislocations - injuries that force the ends of the bones out of position       Treatment of joint problems depends on the cause. If you have a sports injury, treatment often begins with the RICE (Rest, Ice, Compression, and Elevation) method to relieve pain, reduce swelling, and speed healing. Other possible treatments include pain relievers, keeping the injured area from moving, rehabilitation, and sometimes surgery. For arthritis, injuries, or other diseases, you may need joint replacement surgery to remove the damaged joint and put in a new one.    NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
Question: What is (are) Delirium ?

Answer: Delirium is a condition that features rapidly changing mental states. It causes confusion and changes in behavior. Besides falling in and out of consciousness, there may be problems with       - Attention and awareness    - Thinking and memory    - Emotion    - Muscle control    - Sleeping and waking       Causes of delirium include medications, poisoning, serious illnesses or infections, and severe pain. It can also be part of some mental illnesses or dementia.    Delirium and dementia have similar symptoms, so it can be hard to tell them apart. They can also occur together. Delirium starts suddenly and can cause hallucinations. The symptoms may get better or worse, and can last for hours or weeks. On the other hand, dementia develops slowly and does not cause hallucinations. The symptoms are stable, and may last for months or years.     Delirium tremens is a serious type of alcohol withdrawal syndrome. It usually happens to people who stop drinking after years of alcohol abuse.    People with delirium often, though not always, make a full recovery after their underlying illness is treated.
Question: What is (are) Histoplasmosis ?

Answer: Histoplasmosis is a disease caused by a fungus (or mold) called Histoplasma. The fungus is common in the eastern and central United States. It grows in soil and material contaminated with bat or bird droppings. You get infected by breathing the fungal spores. You cannot get the infection from someone else.     Histoplasmosis is often mild, with no symptoms. If you do get sick, it usually affects your lungs. Symptoms include feeling ill, fever, chest pains, and a dry cough. In severe cases, histoplasmosis spreads to other organs. This is called disseminated disease. It is more common in infants, young children, seniors, and people with immune system problems.    Your doctor might do a variety of tests to make the diagnosis, including a chest x-ray, CT scan of the lungs, or examining blood, urine, or tissues for signs of the fungus. Mild cases usually get better without treatment. Treatment of severe or chronic cases is with antifungal drugs.     Centers for Disease Control and Prevention
Question: What is (are) L1 syndrome ?

Answer: L1 syndrome is a mild to severe congenital disorder with hydrocephalus of varying degrees of severity, intellectual disability, spasticity of the legs, and adducted thumbs. It includes several conditions, some more severe than others: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) - the most severe of all; MASA syndrome (intellectual disability, aphasia (delayed speech), spastic paraplegia (shuffling gait), adducted thumbs); SPG1 (X-linked complicated hereditary spastic paraplegia type 1) X-linked complicated corpus callosum agenesis. It is inherited in an X-linked manner; therefore, it only affects males. It is caused by alterations (mutations) in L1CAM gene. The diagnosis is made in males who have the clinical and neurologic findings and a family history consistent with X-linked inheritance and is confirmed by a genetic test showing the L1CAM gene mutation. The treatment involves doing a surgery for the hydrocephalus.
Question: What is (are) Neuroacanthocytosis ?

Answer: Neuroacanthocytosis (NA) refers to a group of genetic disorders that are characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. The onset, severity and specific physical findings vary depending upon the specific type of NA present. Signs and symptoms usually include chorea (involuntary, dance-like movements), involuntary movements of the face and tongue, progressive cognitive impairment, muscle weakness, seizures and behavioral or personality changes. NA syndromes typically progress to cause serious, disabling complications and are usually fatal. NA is inherited, but the disease-causing gene and inheritance pattern varies for each type. Although there is some disagreement in the medical literature about what disorders should be classified as forms of NA, four distinct disorders are usually classified as the "core" NA syndromes - chorea-acanthocytosis, McLeod syndrome, Huntington's disease-like 2 and pantothenate kinase-associated neurodegeneration (PKAN).
Question: What causes Familial hypertrophic cardiomyopathy ?

Answer: What causes familial hypertrophic cardiomyopathy? Familial hypertrophic cardiomyopathy (HCM) is caused by mutations in any of several genes. The genes most commonly responsible are the MYH7, MYBPC3, TNNT2, and TNNI3 genes. Other genes that have not yet been identified may also be responsible for familial HCM. The genes known to be responsible for familial HCM give the body instructions to make proteins that play important roles in contraction of the heart muscle. The proteins form structures in muscle cells called sarcomeres, which are needed for muscle contractions. Sarcomeres are made of protein fibers that attach to each other and release, allowing muscles to contract. The contractions of heart muscle are needed to pump blood to the rest of the body. While it is unclear exactly how mutations in these genes cause familial HCM, they are thought to lead to abnormal structure or function of sarcomeres, or reduce the amount of proteins made. When the function of sarcomeres is impaired, normal heart muscle contractions are disrupted.
Question: How to diagnose Coats disease ?

Answer: Is genetic testing available for Coats disease? Genetic testing is not available for most cases of Coats disease. Eighty to 90% of affected people have no evidence of a genetic predisposition to the condition and no affected family members. Rarely, Coats disease can be inherited as a feature of several different genetic syndromes. For example, Coats disease has been reported in Senior-Loken syndrome, which is caused by changes (mutations) in one of several different genes, and Coats plus syndrome, which is caused by mutations in CTC1. Genetic testing is often an option for people affected by one of these conditions. How is Coats disease diagnosed? A diagnosis of Coats disease is often suspected based on the presense of characteristic signs and symptoms on thorough eye examination. Retinal fluorescein angiography, an imaging technique that uses a special dye and camera to look at blood flow in the retina, may be necessary to confirm the diagnosis. Ultrasonography, computed tomography (CT scan) and/or magnetic resonance imaging (MRI scan) are often performed to distinguish Coats disease from other conditions that affect the retina.