umarjan11/Medical-qna huggingface dataset:
Question: Is Pyruvate dehydrogenase deficiency inherited ?

Answer: How is pyruvate dehydrogenase deficiency inherited? Pyruvate dehydrogenase deficiency is most commonly caused by mutations in the E1 alpha gene, which is located on the X chromosome (one of the sex chromosomes) and is typically inherited in an X-linked dominant manner. Dominant inheritance occurs when an abnormal gene from one parent is capable of causing disease, even though a matching gene from the other parent is normal. The abnormal gene "dominates" the gene pair. Females have two X chromosomes (one from each parent) and males have one X chromosome from the mother and one Y chromosome from the father. For an X-linked dominant disorder, because one mutated gene is enough to cause the condition, both males and females can have the condition. Because males have no other copy of the X chromosome with a working gene, affected males usually have more severe disease than affected females (who have another X chromosome with a working gene).  If the father carries the abnormal X gene, all of his daughters will inherit the disease and none of his sons will have the disease. If the mother carries the abnormal X gene, there is a 50% (1 in 2) chance for each child (whether male or female) to inherit the disease. The condition may also be caused by a new mutation that first appears in an affected individual, without either parent carrying an abnormal gene for the condition. The other genes that are thought to cause pyruvate dehydrogenase deficiency appear to be inherited in an autosomal recessive manner and are not on the sex chromosomes. This means that two non-working copies of the gene that is causing the condition must be present for an individual to have the condition. When an individual has an autosomal recessive condition, each of that person's parents have a non-working copy of the gene and are referred to as "carriers." When 2 carriers for the same condition are having children, there is a 25% (1 in 4) chance for each child to have the condition, a 50% (1 in 2) chance for each child to be a carrier like each of the parents, and a 25% chance for each child to not have the condition and not be a carrier.
Question: Who is at risk for Parasites - Scabies? ?

Answer: Transmission
    
Human scabies is caused by an infestation of the skin by the human itch mite (Sarcoptes scabiei var. hominis). The adult female scabies mites burrow into the upper layer of the skin (epidermis) where they live and deposit their eggs. The microscopic scabies mite almost always is passed by direct, prolonged, skin-to-skin contact with a person who already is infested. An infested person can spread scabies even if he or she has no symptoms. Humans are the source of infestation; animals do not spread human scabies.
    Persons At Risk
    
Scabies can be passed easily by an infested person to his or her household members and sexual partners. Scabies in adults frequently is sexually acquired.
    
Scabies is a common condition found worldwide; it affects people of all races and social classes. Scabies can spread easily under crowded conditions where close body and skin contact is common. Institutions such as nursing homes, extended-care facilities, and prisons are often sites of scabies outbreaks. Child care facilities also are a common site of scabies infestations.
    Crusted (Norwegian) Scabies
    
Some immunocompromised, elderly, disabled, or debilitated persons are at risk for a severe form of scabies called crusted, or Norwegian, scabies. Persons with crusted scabies have thick crusts of skin that contain large numbers of scabies mites and eggs. The mites in crusted scabies are not more virulent than in non-crusted scabies; however, they are much more numerous (up to 2 million per patient). Because they are infested with such large numbers of mites, persons with crusted scabies are very contagious to other persons. In addition to spreading scabies through brief direct skin-to-skin contact, persons with crusted scabies can transmit scabies indirectly by shedding mites that contaminate items such as their clothing, bedding, and furniture. Persons with crusted scabies should receive quick and aggressive medical treatment for their infestation to prevent outbreaks of scabies.
Question: What are the genetic changes related to intrahepatic cholestasis of pregnancy ?

Answer: Genetic changes in the ABCB11 or the ABCB4 gene can increase a woman's likelihood of developing intrahepatic cholestasis of pregnancy.  The ABCB11 gene provides instructions for making a protein called the bile salt export pump (BSEP). This protein is found in the liver, and its main role is to move bile salts (a component of bile) out of liver cells, which is important for the normal release of bile. Changes in the ABCB11 gene associated with intrahepatic cholestasis of pregnancy reduce the amount or function of the BSEP protein, although enough function remains for sufficient bile secretion under most circumstances. Studies show that the hormones estrogen and progesterone (and products formed during their breakdown), which are elevated during pregnancy, further reduce the function of BSEP, resulting in impaired bile secretion and the features of intrahepatic cholestasis of pregnancy.  The ABCB4 gene provides instructions for making a protein that helps move certain fats called phospholipids across cell membranes and release them into bile. Phospholipids attach (bind) to bile acids (another component of bile). Large amounts of bile acids can be toxic when they are not bound to phospholipids. A mutation in one copy of the ABCB4 gene mildly reduces the production of ABCB4 protein. Under most circumstances, though, enough protein is available to move an adequate amount of phospholipids out of liver cells to bind to bile acids. Although the mechanism is unclear, the function of the remaining ABCB4 protein appears to be impaired during pregnancy, which may further reduce the movement of phospholipids into bile. The lack of phospholipids available to bind to bile acids leads to a buildup of toxic bile acids that can impair liver function, including the regulation of bile flow.  Most women with intrahepatic cholestasis of pregnancy do not have a genetic change in the ABCB11 or ABCB4 gene. Other genetic and environmental factors likely play a role in increasing susceptibility to this condition.
Question: What is (are) pulmonary veno-occlusive disease ?

Answer: Pulmonary veno-occlusive disease (PVOD) is characterized by the blockage (occlusion) of the blood vessels that carry oxygen-rich (oxygenated) blood from the lungs to the heart (the pulmonary veins). The occlusion is caused by a buildup of abnormal fibrous tissue in the small veins in the lungs, which narrows the vessels and impairs blood flow. Because blood flow through the lungs is difficult, pressure rises in the vessels that carry blood that needs to be oxygenated to the lungs from the heart (the pulmonary arteries). Increased pressure in these vessels is known as pulmonary arterial hypertension.  The problems with blood flow in PVOD also impair the delivery of oxygenated blood to the rest of the body, which leads to the signs and symptoms of the condition. Shortness of breath (dyspnea) and tiredness (fatigue) during exertion are the most common symptoms of this condition. Other common features include dizziness, a lack of energy (lethargy), difficulty breathing when lying down, and a cough that does not go away. As the condition worsens, affected individuals can develop a bluish tint to the skin (cyanosis), chest pains, fainting spells, and an accumulation of fluid in the lungs (pulmonary edema).  Certain features commonly seen in people with PVOD can be identified using a test called a CT scan. One of these features, which is seen in the lungs of affected individuals, is an abnormality described as centrilobular ground-glass opacities. Affected individuals also have abnormal thickening of certain tissues in the lungs, which is described as septal lines. In addition, lymph nodes in the chest (mediastinal lymph nodes) are abnormally enlarged in people with PVOD.  PVOD can begin at any age, and the blood flow problems worsen over time. Because of the increased blood pressure in the pulmonary arteries, the heart must work harder than normal to pump blood to the lungs, which can eventually lead to fatal heart failure. Most people with this severe disorder do not live more than 2 years after diagnosis.
Question: What is (are) Bardet-Biedl syndrome ?

Answer: Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.  Vision loss is one of the major features of Bardet-Biedl syndrome. Loss of vision occurs as the light-sensing tissue at the back of the eye (the retina) gradually deteriorates. Problems with night vision become apparent by mid-childhood, followed by blind spots that develop in the side (peripheral) vision. Over time, these blind spots enlarge and merge to produce tunnel vision. Most people with Bardet-Biedl syndrome also develop blurred central vision (poor visual acuity) and become legally blind by adolescence or early adulthood.  Obesity is another characteristic feature of Bardet-Biedl syndrome. Abnormal weight gain typically begins in early childhood and continues to be an issue throughout life. Complications of obesity can include type 2 diabetes, high blood pressure (hypertension), and abnormally high cholesterol levels (hypercholesterolemia).  Other major signs and symptoms of Bardet-Biedl syndrome include the presence of extra fingers or toes (polydactyly), intellectual disability or learning problems, and abnormalities of the genitalia. Most affected males produce reduced amounts of sex hormones (hypogonadism), and they are usually unable to father biological children (infertile). Many people with Bardet-Biedl syndrome also have kidney abnormalities, which can be serious or life-threatening.  Additional features of Bardet-Biedl syndrome can include impaired speech, delayed development of motor skills such as standing and walking, behavioral problems such as emotional immaturity and inappropriate outbursts, and clumsiness or poor coordination. Distinctive facial features, dental abnormalities, unusually short or fused fingers or toes, and a partial or complete loss of the sense of smell (anosmia) have also been reported in some people with Bardet-Biedl syndrome. Additionally, this condition can affect the heart, liver, and digestive system.
Question: What is (are) What I need to know about Lactose Intolerance ?

Answer: Lactose intolerance means you have symptoms such as bloating, diarrhea, and gas after you have milk or milk products.
                
If your small intestine does not produce much lactase, you cannot break down much lactose. Lactose that does not break down goes to your colon. The colon is an organ that absorbs water from stool and changes it from a liquid to a solid form. In your colon, bacteria that normally live in the colon break down the lactose and create fluid and gas, causing you to have symptoms.
                
The causes of low lactase in your small intestine can include the following:
                
- In some people, the small intestine makes less lactase starting at about age 2, which may lead to symptoms of lactose intolerance. Other people start to have symptoms later, when they are teenagers or adults.  - Infection, disease, or other problems that harm the small intestine can cause low lactase levels. Low lactase levels can cause you to become lactose intolerant until your small intestine heals.  - Being born early may cause babies to be lactose intolerant for a short time after they are born.  - In a rare form of lactose intolerance, the small intestine produces little or no lactase enzyme from birth.
                
Not all people with low lactase levels have symptoms. If you have symptoms, you are lactose intolerant.
                
Most people who are lactose intolerant can have some milk or milk products and not have symptoms. The amount of lactose that causes symptoms is different from person to person.
                

                
People sometimes confuse lactose intolerance with a milk allergy. While lactose intolerance is a digestive problem, a milk allergy is a reaction by the bodys immune system to one or more milk proteins. If you have a milk allergy, having even a small amount of milk or milk product can be life threatening. A milk allergy most commonly occurs in the first year of life. Lactose intolerance occurs more often during the teen years or adulthood.
Question: What are the treatments for Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis ?

Answer: Treatment depends on the severity of symptoms. The gastroenterologist will
                
- review the medications the person is taking  - make recommendations to change or stop certain medications  - recommend that the person quit smoking
                
The gastroenterologist may prescribe medications to help control symptoms. Medications are almost always effective in treating microscopic colitis. The gastroenterologist may recommend eating, diet, and nutrition changes. In rare cases, the gastroenterologist may recommend surgery.
                
Medications
                
The gastroenterologist may prescribe one or more of the following:
                
- antidiarrheal medications such as bismuth subsalicylate (Kaopectate, Pepto-Bismol), diphenoxylate/atropine (Lomotil), and loperamide  - corticosteroids such as budesonide (Entocort) and prednisone  - anti-inflammatory medications such as mesalamine and sulfasalazine (Azulfidine)  - cholestyramine resin (Locholest, Questran)a medication that blocks bile acids  - antibiotics such as metronidazole (Flagyl) and erythromycin  - immunomodulators such as mercaptopurine (Purinethol), azathioprine (Azasan, Imuran), and methotrexate (Rheumatrex, Trexall)  - anti-TNF therapies such as infliximab (Remicade) and adalimumab (Humira)
                
Corticosteroids are medications that decrease inflammation and reduce the activity of the immune system. These medications can have many side effects. Scientists have shown that budesonide is safer, with fewer side effects, than prednisone. Most health care providers consider budesonide the best medication for treating microscopic colitis.
                
Patients with microscopic colitis generally achieve relief through treatment with medications, although relapses can occur. Some patients may need long-term treatment if they continue to have relapses.
Question: Who is at risk for Cataract? ?

Answer: Age-related cataracts develop in two ways. - Clumps of protein reduce the sharpness of the image reaching the retina.  - The clear lens slowly changes to a yellowish/brownish color, adding a brownish tint to vision. Clumps of protein reduce the sharpness of the image reaching the retina. The clear lens slowly changes to a yellowish/brownish color, adding a brownish tint to vision. Protein Clumpings Cloud the Lens The lens consists mostly of water and protein. When the protein clumps up, it clouds the lens and reduces the light that reaches the retina. The clouding may become severe enough to cause blurred vision. Most age-related cataracts develop from protein clumpings. When a cataract is small, the cloudiness affects only a small part of the lens. You may not notice any changes in your vision. Cataracts tend to grow slowly, so vision gets worse gradually. Over time, the cloudy area in the lens may get larger, and the cataract may increase in size. Seeing may become more difficult. Your vision may get duller or blurrier. Discoloration of the Lens Cataracts cause the lens to change to a yellowish/brownish color. As the clear lens slowly colors with age, your vision gradually may acquire a brownish shade. At first, the amount of tinting may be small and may not cause a vision problem. Over time, increased tinting may make it more difficult to read and perform other routine activities. This gradual change in the amount of tinting does not affect the sharpness of the image transmitted to the retina. If you have advanced lens discoloration, you may not be able to identify blues and purples. You may be wearing what you believe to be a pair of black socks, only to find out from friends that you are wearing purple socks. Risk Factors The risk of cataract increases as you get older. Other risk factors for cataract include - certain diseases like diabetes  - personal behavior like smoking or alcohol use  - environmental factors such as prolonged exposure to ultraviolet sunlight. certain diseases like diabetes personal behavior like smoking or alcohol use environmental factors such as prolonged exposure to ultraviolet sunlight.
Question: What are the symptoms of Hodgkin lymphoma ?

Answer: What are the signs and symptoms of Hodgkin lymphoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Hodgkin lymphoma. 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) Abnormality of immune system physiology 90% Lymphadenopathy 90% Lymphoma 90% Abnormality of temperature regulation 50% Anorexia 50% Chest pain 50% Hyperhidrosis 50% Pruritus 50% Weight loss 50% Bone marrow hypocellularity 7.5% Bone pain 7.5% Hemoptysis 7.5% Hepatomegaly 7.5% Incoordination 7.5% Migraine 7.5% Peripheral neuropathy 7.5% Respiratory insufficiency 7.5% Splenomegaly 7.5% Autosomal recessive inheritance - Hodgkin lymphoma - Impaired lymphocyte transformation with phytohemagglutinin - Polyclonal elevation of IgM - 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 Wyburn Mason's syndrome ?

Answer: What are the signs and symptoms of Wyburn Mason's syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wyburn Mason's syndrome. 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) Abnormality of the retinal vasculature 90% Abnormality of the skin 90% Aneurysm 90% Peripheral arteriovenous fistula 90% Cerebral palsy 50% Cognitive impairment 50% Hemiplegia/hemiparesis 50% Migraine 50% Seizures 50% Visual impairment 50% Abnormality of eye movement 7.5% Abnormality of retinal pigmentation 7.5% Behavioral abnormality 7.5% Hearing impairment 7.5% Intracranial hemorrhage 7.5% Meningitis 7.5% Nausea and vomiting 7.5% Neurological speech impairment 7.5% Proptosis 7.5% Reduced consciousness/confusion 7.5% Tinnitus 7.5% 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: Is Hydrocephalus due to congenital stenosis of aqueduct of sylvius inherited ?

Answer: Is hydrocephalus due to congenital stenosis of aqueduct of sylvius inherited? Hydrocephalus due to congenital stenosis of aqueduct of sylvius is inherited in an X-linked recessive manner. A condition is X-linked if the responsible gene is located on the X chromosome. The X chromosome is one of the two sex chromosomes (the other sex chromosome is the Y chromosome). Females have two X chromosomes in each cell and males have an X chromosome and a Y chromosome in each cell. Although females have two X chromosomes, one of the X chromosomes in each cell is "turned off" and all of the genes on that chromosome are inactivated. Females who have a change (mutation) in a gene on one of their X chromosomes are called carriers of the related condition. Carrier females usually do not have symptoms of the condition because the X chromosome with the mutated gene is often turned off and they have another X chromosome with a working copy of the gene. Sometimes, the X chromosome with the working copy of the gene is turned off, which may cause symptoms of the condition. However, females with symptoms are usually much more mildly affected than males. A male has only one X chromosome, so if he inherits a mutation on the X chromosome, he will have signs and symptoms (be affected). Males with an X-linked recessive condition always pass the mutated gene to all of their daughters, who will be carriers. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome to male offspring. Female carriers of an X-linked recessive condition have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have an affected son, and a 25% chance to have an unaffected son. This also means that each daughter of a carrier mother has a 50% chance of being a carrier, and each son has a 50% chance of having the condition.