umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Peripheral Arterial Disease ?

Answer: Peripheral arterial disease (PAD) happens when there is a narrowing of the blood vessels outside of your heart. The cause of PAD is atherosclerosis. This happens when plaque builds up on the walls of the arteries that supply blood to the arms and legs. Plaque is a substance made up of fat and cholesterol. It causes the arteries to narrow or become blocked. This can reduce or stop blood flow, usually to the legs. If severe enough, blocked blood flow can cause tissue death and can sometimes lead to amputation of the foot or leg.    The main risk factor for PAD is smoking. Other risk factors include older age and diseases like diabetes, high blood cholesterol, high blood pressure, heart disease, and stroke.    Many people who have PAD don't have any symptoms. If you have symptoms, they may include       - Pain, numbness, achiness, or heaviness in the leg muscles. This happens when walking or climbing stairs.    - Weak or absent pulses in the legs or feet    - Sores or wounds on the toes, feet, or legs that heal slowly, poorly, or not at all    - A pale or bluish color to the skin    - A lower temperature in one leg than the other leg    - Poor nail growth on the toes and decreased hair growth on the legs    - Erectile dysfunction, especially among men who have diabetes       PAD can increase your risk of heart attack, stroke, and transient ischemic attack.    Doctors diagnose PAD with a physical exam and heart and imaging tests. Treatments include lifestyle changes, medicines, and sometimes surgery. Lifestyle changes include dietary changes, exercise, and efforts to lower high cholesterol levels and high blood pressure.    NIH: National Heart, Lung, and Blood Institute
Question: What are the symptoms of Klatskin tumor ?

Answer: What are the signs and symptoms of Klatskin tumor? The symptoms associated with Klatskin tumors are usually due to blocked bile ducts. Symptoms may include: Jaundice Itching Light colored stools and/or dark urine Abdominal pain Loss of appetite / weight loss Fever Nausea / vomiting The Human Phenotype Ontology provides the following list of signs and symptoms for Klatskin tumor. 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) Biliary tract neoplasm 90% Hepatomegaly 50% Abdominal pain 7.5% Abnormality of temperature regulation 7.5% Lymphadenopathy 7.5% Thrombophlebitis 7.5% Weight loss 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: What are the symptoms of Vertebral fusion posterior lumbosacral blepharoptosis ?

Answer: What are the signs and symptoms of Vertebral fusion posterior lumbosacral blepharoptosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Vertebral fusion posterior lumbosacral blepharoptosis. 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) Abnormal form of the vertebral bodies 90% Abnormality of the musculature 90% Ptosis 90% Vertebral segmentation defect 90% Limitation of joint mobility 50% Sacral dimple 50% Tarsal synostosis 50% Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - Congenital ptosis - Posterior fusion of lumbosacral vertebrae - 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 Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 inherited ?

Answer: If my daughter inherits BPES from me, will she definitely have the same type as me, or could she have the other type? More than 130 mutations (changes) in the FOXL2 gene have been found to cause BPES. It has been reported that mutations that lead to a significantly shortened FOXL2 protein often cause BPES type I (characterized by eyelid malformations and premature ovarian failure (POF)), while mutations that result in an extra long FOXL2 protein may cause BPES type II (which involves only eyelid malformations). However, in a study published in 2003 in the American Journal of Human Genetics, the authors discussed how their study was the first to demonstrate intra- and interfamilial phenotypic variability (i.e. both BPES types caused by the same mutation). They discuss how assigning an affected family a diagnosis of either BPES type I or II is not always possible because of this. The article also discusses a previous report of menstrual abnormalities and reduced female fertility in two families with BPES type II, suggesting overlap between both BPES types, as well as a report of a family with BPES type I in which the first generations of affected females are infertile while three affected young women in the youngest generation appear to have normal pelvic ultrasound and hormone levels. They do caution that in this family, the early age of the affected women may preclude an accurate prediction of whether they will have POF, since the onset of POF usually occurs at a later age. Approximately 12 percent of people with BPES do not have an identified FOXL2 gene mutation; the cause of the condition in these people is unknown, and therefore there is no information on whether there may be variation within families for these affected individuals.
Question: What are the genetic changes related to proopiomelanocortin deficiency ?

Answer: POMC deficiency is caused by mutations in the POMC gene, which provides instructions for making the proopiomelanocortin protein. This protein is cut (cleaved) into smaller pieces called peptides that have different functions in the body. One of these peptides, ACTH, stimulates the release of another hormone called cortisol from the adrenal glands. Cortisol is involved in the maintenance of blood sugar levels. Another peptide, alpha-melanocyte stimulating hormone (-MSH), plays a role in the production of the pigment that gives skin and hair their color. The -MSH peptide and another peptide called beta-melanocyte stimulating hormone (-MSH) act in the brain to help maintain the balance between energy from food taken into the body and energy spent by the body. The correct balance is important to control eating and weight.  POMC gene mutations that cause POMC deficiency result in production of an abnormally short version of the POMC protein or no protein at all. As a result, there is a shortage of the peptides made from POMC, including ACTH, -MSH, and -MSH. Without ACTH, there is a reduction in cortisol production, leading to adrenal insufficiency. Decreased -MSH in the skin reduces pigment production, resulting in the red hair and pale skin often seen in people with POMC deficiency. Loss of -MSH and -MSH in the brain dysregulates the body's energy balance, leading to overeating and severe obesity.  POMC deficiency is a rare cause of obesity; POMC gene mutations are not frequently associated with more common, complex forms of obesity. Researchers are studying other factors that are likely involved in these forms.
Question: What are the genetic changes related to Miyoshi myopathy ?

Answer: Miyoshi myopathy is caused by mutations in the DYSF or ANO5 gene. When this condition is caused by ANO5 gene mutations it is sometimes referred to as distal anoctaminopathy. The DYSF and ANO5 genes provide instructions for making proteins primarily found in muscles that are used for movement (skeletal muscles). The protein produced from the DYSF gene, called dysferlin, is found in the thin membrane called the sarcolemma that surrounds muscle fibers. Dysferlin is thought to aid in repairing the sarcolemma when it becomes damaged or torn due to muscle strain.  The ANO5 gene provides instructions for making a protein called anoctamin-5. This protein is located within the membrane of a cell structure called the endoplasmic reticulum, which is involved in protein production, processing, and transport. Anoctamin-5 is thought to act as a channel, allowing charged chlorine atoms (chloride ions) to flow in and out of the endoplasmic reticulum. The regulation of chloride flow within muscle cells plays a role in controlling muscle tensing (contraction) and relaxation.  DYSF or ANO5 gene mutations often result in a decrease or elimination of the corresponding protein. A lack of dysferlin leads to a reduced ability to repair damage done to the sarcolemma of muscle fibers. As a result, damage accumulates and leads to atrophy of the muscle fiber. It is unclear why this damage leads to the specific pattern of weakness and atrophy that is characteristic of Miyoshi myopathy. The effects of the loss of anoctamin-5 are also unclear. While chloride is necessary for normal muscle function, it is unknown how a lack of this chloride channel causes the signs and symptoms of Miyoshi myopathy.
Question: What are the genetic changes related to fatty acid hydroxylase-associated neurodegeneration ?

Answer: Mutations in the FA2H gene cause FAHN. The FA2H gene provides instructions for making an enzyme called fatty acid 2-hydroxylase. This enzyme modifies fatty acids, which are building blocks used to make fats (lipids). Specifically, fatty acid 2-hydroxylase adds a single oxygen atom to a hydrogen atom at a particular point on a fatty acid to create a 2-hydroxylated fatty acid. Certain 2-hydroxylated fatty acids are important in forming normal myelin; myelin is the protective covering that insulates nerves and ensures the rapid transmission of nerve impulses. The part of the brain and spinal cord that contains myelin is called white matter.  The FA2H gene mutations that cause FAHN reduce or eliminate the function of the fatty acid 2-hydroxylase enzyme. Reduction of this enzyme's function may result in abnormal myelin that is prone to deterioration (demyelination), leading to a loss of white matter (leukodystrophy). Leukodystrophy is likely involved in the development of the movement problems and other neurological abnormalities that occur in FAHN. Iron accumulation in the brain is probably also involved, although it is unclear how FA2H gene mutations lead to the buildup of iron.  People with FA2H gene mutations and some of the movement problems seen in FAHN were once classified as having a separate disorder called spastic paraplegia 35. People with mutations in this gene resulting in intellectual decline and optic nerve atrophy were said to have a disorder called FA2H-related leukodystrophy. However, these conditions are now generally considered to be forms of FAHN.
Question: What is (are) glycogen storage disease type V ?

Answer: Glycogen storage disease type V (also known as GSDV or McArdle disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells.  People with GSDV typically experience fatigue, muscle pain, and cramps during the first few minutes of exercise (exercise intolerance). Exercise such as weight lifting or jogging usually triggers these symptoms in affected individuals. The discomfort is generally alleviated with rest. If individuals rest after brief exercise and wait for their pain to go away, they can usually resume exercising with little or no discomfort (a characteristic phenomenon known as "second wind").  Prolonged or intense exercise can cause muscle damage in people with GSDV. About half of people with GSDV experience breakdown of muscle tissue (rhabdomyolysis). In severe episodes, the destruction of muscle tissue releases a protein called myoglobin, which is filtered through the kidneys and released in the urine (myoglobinuria). Myoglobin causes the urine to be red or brown. This protein can also damage the kidneys, and it is estimated that half of those individuals with GSDV who have myoglobinuria will develop life-threatening kidney failure.  The signs and symptoms of GSDV can vary significantly in affected individuals. The features of this condition typically begin in a person's teens or twenties, but they can appear anytime from infancy to adulthood. In most people with GSDV, the muscle weakness worsens over time; however, in about one-third of affected individuals, the muscle weakness is stable. Some people with GSDV experience mild symptoms such as poor stamina; others do not experience any symptoms.
Question: What is (are) nephrogenic diabetes insipidus ?

Answer: Nephrogenic diabetes insipidus is a disorder of water balance. The body normally balances fluid intake with the excretion of fluid in urine. However, people with nephrogenic diabetes insipidus produce too much urine (polyuria), which causes them to be excessively thirsty (polydipsia). Affected individuals can quickly become dehydrated if they do not drink enough water, especially in hot weather or when they are sick.  Nephrogenic diabetes insipidus can be either acquired or hereditary. The acquired form is brought on by certain drugs and chronic diseases and can occur at any time during life. The hereditary form is caused by genetic mutations, and its signs and symptoms usually become apparent within the first few months of life.  Infants with hereditary nephrogenic diabetes insipidus may eat poorly and fail to gain weight and grow at the expected rate (failure to thrive). They may also be irritable and experience fevers, diarrhea, and vomiting. Recurrent episodes of dehydration can lead to slow growth and delayed development. If the condition is not well-managed, over time it can damage the bladder and kidneys leading to pain, infections, and kidney failure. With appropriate treatment, affected individuals usually have few complications and a normal lifespan.  Nephrogenic diabetes insipidus should not be confused with diabetes mellitus, which is much more common. Diabetes mellitus is characterized by high blood sugar levels resulting from a shortage of the hormone insulin or an insensitivity to this hormone. Although nephrogenic diabetes insipidus and diabetes mellitus have some features in common, they are separate disorders with different causes.
Question: What are the genetic changes related to molybdenum cofactor deficiency ?

Answer: Molybdenum cofactor deficiency is caused by mutations in the MOCS1, MOCS2, or GPHN gene. There are three forms of the disorder, named types A, B, and C (or complementation groups A, B, and C). The forms have the same signs and symptoms but are distinguished by their genetic cause: MOCS1 gene mutations cause type A, MOCS2 gene mutations cause type B, and GPHN gene mutations cause type C. The proteins produced from each of these genes are involved in the formation (biosynthesis) of a molecule called molybdenum cofactor. Molybdenum cofactor, which contains the element molybdenum, is essential to the function of several enzymes. These enzymes help break down (metabolize) different substances in the body, some of which are toxic if not metabolized.  Mutations in the MOCS1, MOCS2, or GPHN gene reduce or eliminate the function of the associated protein, which impairs molybdenum cofactor biosynthesis. Without the cofactor, the metabolic enzymes that rely on it cannot function.  The resulting loss of enzyme activity leads to buildup of certain chemicals, including sulfite, S-sulfocysteine, xanthine, and hypoxanthine (which can be identified in urine), and low levels of uric acid in the blood. Sulfite, which is normally broken down by one of the molybdenum cofactor-dependent enzymes, is toxic, especially to the brain. Researchers suggest that damage caused by the abnormally high levels of sulfite (and possibly other chemicals) leads to encephalopathy, seizures, and the other features of molybdenum cofactor deficiency.
Question: What is (are) primary hyperoxaluria ?

Answer: Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), which is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively.  Primary hyperoxaluria results from the overproduction of a substance called oxalate. Oxalate is filtered through the kidneys and excreted as a waste product in urine, leading to abnormally high levels of this substance in urine (hyperoxaluria). During its excretion, oxalate can combine with calcium to form calcium oxalate, a hard compound that is the main component of kidney and bladder stones. Deposits of calcium oxalate can damage the kidneys and other organs and lead to blood in the urine (hematuria), urinary tract infections, kidney damage, ESRD, and injury to other organs. Over time, kidney function decreases such that the kidneys can no longer excrete as much oxalate as they receive. As a result oxalate levels in the blood rise, and the substance gets deposited in tissues throughout the body (systemic oxalosis), particularly in bones and the walls of blood vessels. Oxalosis in bones can cause fractures.  There are three types of primary hyperoxaluria that differ in their severity and genetic cause. In primary hyperoxaluria type 1, kidney stones typically begin to appear anytime from childhood to early adulthood, and ESRD can develop at any age. Primary hyperoxaluria type 2 is similar to type 1, but ESRD develops later in life. In primary hyperoxaluria type 3, affected individuals often develop kidney stones in early childhood, but few cases of this type have been described so additional signs and symptoms of this type are unclear.
Question: What is (are) C3 glomerulopathy ?

Answer: C3 glomerulopathy is a group of related conditions that cause the kidneys to malfunction. The major features of C3 glomerulopathy include high levels of protein in the urine (proteinuria), blood in the urine (hematuria), reduced amounts of urine, low levels of protein in the blood, and swelling in many areas of the body. Affected individuals may have particularly low levels of a protein called complement component 3 (or C3) in the blood.  The kidney problems associated with C3 glomerulopathy tend to worsen over time. About half of affected individuals develop end-stage renal disease (ESRD) within 10 years after their diagnosis. ESRD is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively.  Researchers have identified two major forms of C3 glomerulopathy: dense deposit disease and C3 glomerulonephritis. Although the two disorders cause similar kidney problems, the features of dense deposit disease tend to appear earlier than those of C3 glomerulonephritis, usually in adolescence. However, the signs and symptoms of either disease may not begin until adulthood.  One of the two forms of C3 glomerulopathy, dense deposit disease, can also be associated with other conditions unrelated to kidney function. For example, people with dense deposit disease may have acquired partial lipodystrophy, a condition characterized by a lack of fatty (adipose) tissue under the skin in the upper part of the body. Additionally, some people with dense deposit disease develop a buildup of yellowish deposits called drusen in the light-sensitive tissue at the back of the eye (the retina). These deposits usually appear in childhood or adolescence and can cause vision problems later in life.
Question: Who is at risk for Urinary Tract Infections? ?

Answer: Although everyone has some risk for UTIs, some people are more likely to get UTIs than others. These include people who have -  spinal cord injuries or other nerve damage around the bladder   -  a blockage in the urinary tract that can trap urine in the bladder. A blockage in the urinary tract can be caused by kidney stones, an enlarged prostate, or a birth defect.   -  diabetes   -  problems with the bodys natural defense (or immune) system   -  pelvic organ prolapse, which is when pelvic organs (such as the bladder, rectum, or uterus) shift out of their normal position into the vagina. When pelvic organs are out of place, they can push on the bladder and urethra and make it hard to fully empty the bladder. This causes urine to stay in the bladder. When urine stays in the bladder too long, it makes an infection more likely.  spinal cord injuries or other nerve damage around the bladder a blockage in the urinary tract that can trap urine in the bladder. A blockage in the urinary tract can be caused by kidney stones, an enlarged prostate, or a birth defect. diabetes problems with the bodys natural defense (or immune) system pelvic organ prolapse, which is when pelvic organs (such as the bladder, rectum, or uterus) shift out of their normal position into the vagina. When pelvic organs are out of place, they can push on the bladder and urethra and make it hard to fully empty the bladder. This causes urine to stay in the bladder. When urine stays in the bladder too long, it makes an infection more likely. Learn more about risk factors for urinary tract infections.