umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Amyotrophic lateral sclerosis type 6 ?

Answer: What are the signs and symptoms of Amyotrophic lateral sclerosis type 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotrophic lateral sclerosis type 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Amyotrophic lateral sclerosis - Autosomal dominant inheritance - Fasciculations - Gait disturbance - Hyporeflexia - Neuronal loss in central nervous system - Proximal amyotrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Combined malonic and methylmalonic aciduria ?

Answer: What are the signs and symptoms of Combined malonic and methylmalonic aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for Combined malonic and methylmalonic aciduria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Dehydration - Diarrhea - Failure to thrive - Generalized clonic seizures - Ketoacidosis - Methylmalonic aciduria - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What is (are) Apraxia ?

Answer: Apraxia (called "dyspraxia" if mild) is a neurological disorder characterized by loss of the ability to execute or carry out skilled movements and gestures, despite having the desire and the physical ability to perform them. Apraxia results from dysfunction of the cerebral hemispheres of the brain, especially the parietal lobe, and can arise from many diseases or damage to the brain.  There are several kinds of apraxia, which may occur alone or together. The most common is buccofacial or orofacial apraxia, which causes the inability to carry out facial movements on command such as licking lips, whistling, coughing, or winking. Other types of apraxia include limb-kinetic apraxia (the inability to make fine, precise movements with an arm or leg), ideomotor apraxia (the inability to make the proper movement in response to a verbal command), ideational apraxia (the inability to coordinate activities with multiple, sequential movements, such as dressing, eating, and bathing), verbal apraxia (difficulty coordinating mouth and speech movements), constructional apraxia (the inability to copy, draw, or construct simple figures), and oculomotor apraxia (difficulty moving the eyes on command). Apraxia may be accompanied by a language disorder called aphasia. Corticobasal ganglionic degeneration is a disease that causes a variety of types of apraxia, especially in elderly adults.
Question: What is (are) Fabry Disease ?

Answer: Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids. The disease is also called alpha-galactosidase-A deficiency. A mutation in the gene that controls this enzyme causes insufficient breakdown of lipids, which build up to harmful levels in the autonomic nervous system (which controls involuntary functions such as breathing and digestion), cardiovascular system, eyes, and kidneys. Symptoms usually begin during childhood or adolescence and include burning sensations in the arms and legs that gets worse with exercise and hot weather and small, non-cancerous, raised reddish-purple blemishes on the skin. Excess material buildup can lead to clouding in the corneas. Lipid storage may lead to impaired blood circulation and increased risk of heart attack or stroke. The heart may also become enlarged and the kidneys may become progressively impaired, leading to renal failure. Other signs include decreased sweating, fever, and gastrointestinal difficulties.Fabry disease is the only X-linked lipid storage disease (where the mother carries the affected gene on the X chromosome that determines the child's gender and passes it to her son). Boys have a 50 percent chance of inheriting the disorder and her daughters have a 50 percent chance of being a carrier. A milder form is common in females, and occasionally some affected females may have severe symptoms similar to males with the disorder.
Question: What are the genetic changes related to X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ?

Answer: XMEN is caused by mutations in the MAGT1 gene. This gene provides instructions for making a protein called a magnesium transporter, which moves charged atoms (ions) of magnesium (Mg2+) into certain T cells. Specifically, the magnesium transporter produced from the MAGT1 gene is active in CD8+ T cells, which are especially important in controlling viral infections such as the Epstein-Barr virus (EBV). These cells normally take in magnesium when they detect a foreign invader, and the magnesium is involved in activating the T cell's response.  Researchers suggest that magnesium transport may also be involved in the production of another type of T cell called helper T cells (CD4+ T cells) in a gland called the thymus. CD4+ T cells direct and assist the functions of the immune system by influencing the activities of other immune system cells.  Mutations in the MAGT1 gene impair the magnesium transporter's function, reducing the amount of magnesium that gets into T cells. This magnesium deficiency prevents the efficient activation of the T cells to target EBV and other infections. Uncontrolled EBV infection increases the likelihood of developing lymphoma. Impaired production of CD4+ T cells resulting from abnormal magnesium transport likely accounts for the deficiency of this type of T cell in people with XMEN, contributing to the decreased ability to prevent infection and illness.
Question: What is (are) epidermolytic hyperkeratosis ?

Answer: Epidermolytic hyperkeratosis is a skin disorder that is present at birth. Affected babies may have very red skin (erythroderma) and severe blisters. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis).  As affected individuals get older, blistering is less frequent, erythroderma becomes less evident, and the skin becomes thick (hyperkeratotic), especially over joints, on areas of skin that come into contact with each other, or on the scalp or neck. This thickened skin is usually darker than normal. Bacteria can grow in the thick skin, often causing a distinct odor.  Epidermolytic hyperkeratosis can be categorized into two types. People with PS-type epidermolytic hyperkeratosis have thick skin on the palms of their hands and soles of their feet (palmoplantar or palm/sole hyperkeratosis) in addition to other areas of the body. People with the other type, NPS-type, do not have extensive palmoplantar hyperkeratosis but do have hyperkeratosis on other areas of the body.  Epidermolytic hyperkeratosis is part of a group of conditions called ichthyoses, which refers to the scaly skin seen in individuals with related disorders. However, in epidermolytic hyperkeratosis, the skin is thick but not scaly as in some of the other conditions in the group.
Question: What are the genetic changes related to primary macronodular adrenal hyperplasia ?

Answer: In about half of individuals with PMAH, the condition is caused by mutations in the ARMC5 gene. This gene provides instructions for making a protein that is thought to act as a tumor suppressor, which means that it helps to prevent cells from growing and dividing too rapidly or in an uncontrolled way. ARMC5 gene mutations are believed to impair the protein's tumor-suppressor function, which allows the overgrowth of certain cells. It is unclear why this overgrowth is limited to the formation of adrenal gland nodules in people with PMAH.  PMAH can also be caused by mutations in the GNAS gene. This gene provides instructions for making one component, the stimulatory alpha subunit, of a protein complex called a guanine nucleotide-binding protein (G protein). The G protein produced from the GNAS gene helps stimulate the activity of an enzyme called adenylate cyclase. This enzyme is involved in controlling the production of several hormones that help regulate the activity of certain endocrine glands, including the adrenal glands. The GNAS gene mutations that cause PMAH are believed to result in an overactive G protein. Research suggests that the overactive G protein may increase levels of adenylate cyclase and result in the overproduction of another compound called cyclic AMP (cAMP). An excess of cAMP may trigger abnormal cell growth and lead to the adrenal nodules characteristic of PMAH.  Mutations in other genes, some of which are unknown, can also cause PMAH.
Question: What causes Gas in the Digestive Tract ?

Answer: People can try to find the cause of gas on their own by keeping a diary of what they eat and drink and how often they burp, pass gas, or have other symptoms. A diary may help identify specific foods that cause gas.
                
A health care provider should be consulted if
                
- symptoms of gas are bothersome  - symptoms change suddenly  - new symptoms occur, especially in people older than age 40  - gas is accompanied by other symptoms, such as constipation, diarrhea, or weight loss
                
The health care provider will ask about dietary habits and symptoms and may ask a person to keep a food diary. Careful review of diet and the amount of burping or gas passed may help relate specific foods to symptoms and determine the severity of the problem. Recording gas symptoms can help determine whether the problem is too much gas in the intestines or increased sensitivity to normal amounts of gas.
                
If milk or milk products are causing gas, the health care provider may perform blood or breath tests to check for lactose intolerance, the inability or insufficient ability to digest lactose. Lactose intolerance is caused by a deficiency of the enzyme lactase, which is needed to digest lactose. The health care provider may suggest avoiding milk products for a short time to see if symptoms improve.
                
The health care provider may perform a physical exam and order other types of diagnostic tests, depending on a persons symptoms. These tests can rule out serious health problems that may cause gas or symptoms similar to those of gas.
Question: What are the treatments for What I need to know about Hirschsprung Disease ?

Answer: Pull-through Procedure
                
HD is treated with surgery called a pull-through procedure. A surgeon removes the segment of the large intestine lacking nerve cells and connects the healthy segment to the anus. The pull-through procedure is usually done soon after diagnosis.
                
Ostomy surgery
                
An ostomy allows stool to leave the body through an opening in the abdomen. Although most children with HD do not need an ostomy, a child who has been very sick from HD may need an ostomy to get better before the pull-through procedure.
                
For ostomy surgery, the surgeon first takes out the diseased segment of the large intestine. The end of the healthy intestine is moved to an opening in the abdomen where a stoma is created. A stoma is created by rolling the intestines end back on itself, like a shirt cuff, and stitching it to the abdominal wall. An ostomy pouch is attached to the stoma and worn outside the body to collect stool. The pouch will need to be emptied several times each day.
                

                
If the surgeon removes the entire large intestine and connects the small intestine to the stoma, the surgery is called an ileostomy. If the surgeon leaves part of the large intestine and connects it to the stoma, the surgery is called a colostomy.
                
Later, during the pull-through procedure, the surgeon removes the stoma and closes the abdomen with stitches.
Question: What are the symptoms of Paget's Disease of Bone ?

Answer: Symptoms Many people don't know they have Paget's disease because they have a mild case of the disease and do not have any symptoms. However, people with more advanced cases of the disease will likely have symptoms. Symptoms vary depending on which bone or bones are affected. People with Paget's disease may experience - bone pain  - misshapen bones  - fractures  - osteoarthritis of the joints adjacent to bone affected by the disease.  bone pain misshapen bones fractures osteoarthritis of the joints adjacent to bone affected by the disease. Paget's disease can also cause a variety of neurological complications as a result of compression of nerve tissue by bone affected by the disease. Misshapen bone is most obvious when the leg bones, skull, or bones of the spine are affected. Leg bones may become bowed, the skull may become enlarged, and malformed spinal bones may cause curvature of the spine. Complications People with Paget's disease also are more likely to break bones because bones affected by the disease are more fragile. Enlarged and malformed bones can distort the position of bones and joints. This causes wear and tear on the joints next to bones affected by Paget's disease, resulting in arthritis. On very rare occasions, Paget's disease is linked to the development of osteosarcoma, a type of bone cancer. Less than one percent of patients have this complication.
Question: Who is at risk for Small Cell Lung Cancer? ?

Answer: Smoking is the major risk factor for small cell lung cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk to your doctor if you think you may be at risk for lung cancer.    Risk factors for lung cancer include the following:            -  Smoking cigarettes, pipes, or cigars, now or in the past. This is the most important risk factor for lung cancer. The earlier in life a person starts smoking, the more often a person smokes, and the more years a person smokes, the greater the risk of lung cancer.      -  Being exposed to secondhand smoke.     - Being exposed to radiation from any of the following:                  -  Radiation therapy to the breast or chest.       -  Radon in the home or workplace.       -  Imaging tests such as CT scans.       - Atomic bomb radiation.                 -  Being exposed to asbestos, chromium, nickel, beryllium, arsenic, soot, or tar in the workplace.     -  Living where there is air pollution.     -  Having a family history of lung cancer.     -  Being infected with the human immunodeficiency virus (HIV).     -  Taking beta carotene supplements and being a heavy smoker.           Older age is the main risk factor for most cancers. The chance of getting cancer increases as you get older.     When smoking is combined with other risk factors, the risk of lung cancer is increased.
Question: what research (or clinical trials) is being done for Gestational Trophoblastic Disease ?

Answer: New types of treatment are being tested in clinical trials.
                    Information about ongoing clinical trials is available from the NCI website.
                
                
                    Patients may want to think about taking part in a clinical trial.
                    For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment.   Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment.   Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.
                
                
                    Patients can enter clinical trials before, during, or after starting their cancer treatment.
                    Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment.   Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.
Question: What are the symptoms of Spinocerebellar ataxia 40 ?

Answer: What are the signs and symptoms of Spinocerebellar ataxia 40? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 40. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Broad-based gait - Dysarthria - Dysdiadochokinesis - Hyperreflexia - Intention tremor - Pontocerebellar atrophy - Spastic paraparesis - Unsteady gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What is (are) Reactive arthritis ?

Answer: Reactive arthritis is a type of infectious arthritis that occurs as a reaction to an infection elsewhere in the body. This process may occur weeks or even months after the infection has resolved. In addition to joint inflammation, reactive arthritis is associated with two other symptoms: redness and inflammation of the eyes (conjunctivitis) and inflammation of the urinary tract (urethritis). These symptoms may occur alone, together, or not at all. The symptoms of reactive arthritis usually last 3 to 12 months, although symptoms can return or develop into a long-term disease in a small percentage of people. The exact cause of reactive arthritis is unknown. It may follow an infection with Salmonella enteritidis, Salmonella typhimurium, Yersinia enterocolitica, Campylobacter jejuni, Clostridium difficile, Shigella sonnei, Entamoeba histolytica, Cryptosporidium, or Chlamydia trachomatis. Certain genes may make you more prone to the syndrome. For instance, the condition is observed more commonly in patients with human lymphocyte antigen B27 (HLA-B27) histocompatibility antigens. The goal of treatment is to relieve symptoms and treat any underlying infection. Antibiotics may be prescribed. Nonsteroidal anti-inflammatory drugs (NSAIDS), pain relievers, and corticosteroids may be recommended for those with joint pain.
Question: How to diagnose Apert syndrome ?

Answer: How is Apert syndrome diagnosed? Is genetic testing needed to confirm the diagnosis? Apert syndrome and the other conditions associated with FGFR-related craniosynostosis were clinically defined long before the molecular basis of this group of disorders was discovered. Apert syndrome can be diagnosed primarily based on the following clinical findings: Turribrachycephalic skull shape (cone-shaped or towering skull) which is observable clinically and can be confirmed by skull radiograph or head CT examination; Characteristic facial features including moderate-to-severe underdevelopment of the midface, bulging and wide-set eyes, beaked nose, underdeveloped jaw and shallow eye sockets;  Variable hand and foot findings such as syndactyly of the fingers and toes and polydactyly. While clinical findings are suggestive of Apert syndrome, molecular genetic testing can help to confirm the diagnosis. Fibroblast growth factor receptor type 2 (FGFR2) sequence analysis is highly sensitive for Apert syndrome. More than 98% of cases are caused by a specific mutation in the 7th exon of the gene encoding FGFR2. The remaining cases are due to another specific mutation in or near exon 9 of FGFR2.  GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.