umarjan11/Medical-qna huggingface dataset:
Question: What causes COPD ?

Answer: Smoking Most cases of COPD develop over time, from breathing in fumes and other things that irritate the lungs. Some of the things that put you at risk for COPD include smoking, environmental exposure, and genetic factors. Cigarette smoking is the most common cause of COPD in the United States (either current or former smokers). Pipe, cigar, and other types of tobacco smoking can also cause COPD, especially if the smoke is inhaled. Environmental Exposure COPD can also occur in people who have had long-term exposure to things that can irritate your lungs, like chemical fumes, or dust from the environment or workplace. Heavy or long-term exposure to secondhand smoke or other air pollutants may also contribute to COPD even if you have never smoked or had long-term exposure to harmful pollutants. Secondhand smoke is smoke in the air from other people smoking. Genetic Factors In a small number of people, COPD is caused by a genetic condition known as alpha-1 antitrypsin, or AAT, deficiency. People who have this condition have low levels of alpha-1 antitrypsin (AAT)a protein made in the liver. Having a low level of the AAT protein can lead to lung damage and COPD if you're exposed to smoke or other lung irritants. If you have this condition and smoke, COPD can worsen very quickly. While very few people know if they have AAT deficiency, it is estimated that about 1 in every 1,600 people to about 1 in every 5,000 people have it. People with AAT deficiency can get COPD even if they have never smoked or had long-term exposure to harmful pollutants. Asthma Although uncommon, some people who have asthma can develop COPD. Asthma is a chronic (long-term) lung disease that inflames and narrows the airways. Treatment usually can reverse the inflammation and narrowing. However, if not, COPD can develop.
Question: what research (or clinical trials) is being done for Childhood Soft Tissue Sarcoma ?

Answer: New types of treatment are being tested in clinical trials.
                    This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website.     Gene therapy     Gene therapy is being studied for childhood synovial sarcoma that has recurred, spread, or cannot be removed by surgery. Some of the patient's T cells (a type of white blood cell) are removed and the genes in the cells are changed in a laboratory (genetically engineered) so that they will attack specific cancer cells. They are then given back to the patient by infusion.
                
                
                    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 Pendred syndrome ?

Answer: What are the signs and symptoms of Pendred syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pendred 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) Sensorineural hearing impairment 90% Goiter 50% Hypothyroidism 50% Cognitive impairment 7.5% Hyperparathyroidism 7.5% Incoordination 7.5% Neoplasm of the thyroid gland 7.5% Nephropathy 7.5% Neurological speech impairment 7.5% Respiratory insufficiency 7.5% Tracheal stenosis 7.5% Vertigo 7.5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Cochlear malformation - Compensated hypothyroidism - Congenital sensorineural hearing impairment - Intellectual disability - Thyroid carcinoma - Vestibular dysfunction - 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 Pearson syndrome ?

Answer: What are the signs and symptoms of Pearson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pearson 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 skin pigmentation 90% Abnormality of the heme biosynthetic pathway 90% Anemia 90% Delayed skeletal maturation 90% Exocrine pancreatic insufficiency 90% Intrauterine growth retardation 90% Malabsorption 90% Muscular hypotonia 90% Reduced bone mineral density 90% Type I diabetes mellitus 90% 3-Methylglutaric aciduria - Complex organic aciduria - Failure to thrive - Lactic acidosis - Metabolic acidosis - Mitochondrial inheritance - Pancreatic fibrosis - Refractory sideroblastic anemia - Renal Fanconi syndrome - Small for gestational age - 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 Lamellar ichthyosis ?

Answer: What are the signs and symptoms of Lamellar ichthyosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Lamellar ichthyosis. 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 hair quantity 90% Abnormality of the eyelid 90% Abnormality of the nail 90% Aplasia/Hypoplasia of the eyebrow 90% Dry skin 90% Hyperkeratosis 90% Ichthyosis 90% Lack of skin elasticity 90% Pruritus 90% Abnormality of the helix 50% Abnormality of the teeth 7.5% Cognitive impairment 7.5% Dehydration 7.5% Gangrene 7.5% Otitis media 7.5% Recurrent respiratory infections 7.5% Renal insufficiency 7.5% Sepsis 7.5% Short stature 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 SAPHO syndrome ?

Answer: What are the signs and symptoms of SAPHO syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for SAPHO 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) Bone pain 90% Chest pain 90% Hyperostosis 90% Increased bone mineral density 90% Osteolysis 90% Abnormality of the sacroiliac joint 50% Acne 50% Arthritis 50% Osteomyelitis 50% Palmoplantar pustulosis 50% Psoriasis 50% Abdominal pain 7.5% Cranial nerve paralysis 7.5% Inflammation of the large intestine 7.5% Malabsorption 7.5% Recurrent fractures 7.5% Skin rash 7.5% Skin ulcer 7.5% Thrombophlebitis 7.5% Vasculitis 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 is (are) Manitoba oculotrichoanal syndrome ?

Answer: Manitoba oculotrichoanal syndrome is a condition involving several characteristic physical features, particularly affecting the eyes (oculo-), hair (tricho-), and anus (-anal).  People with Manitoba oculotrichoanal syndrome have widely spaced eyes (hypertelorism). They may also have other eye abnormalities including small eyes (microphthalmia), a notched or partially absent upper eyelid (upper eyelid coloboma), eyelids that are attached to the front surface of the eye (corneopalpebral synechiae), or eyes that are completely covered by skin and usually malformed (cryptophthalmos). These abnormalities may affect one or both eyes.  Individuals with Manitoba oculotrichoanal syndrome usually have abnormalities of the front hairline, such as hair growth extending from the temple to the eye on one or both sides of the face. One or both eyebrows may be completely or partially missing. Most people with this disorder also have a wide nose with a notched tip; in some cases this notch extends up from the tip so that the nose appears to be divided into two halves (bifid nose).  About 20 percent of people with Manitoba oculotrichoanal syndrome have defects in the abdominal wall, such as a soft out-pouching around the belly-button (an umbilical hernia) or an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the navel. Another characteristic feature of Manitoba oculotrichoanal syndrome is a narrow anus (anal stenosis) or an anal opening farther forward than usual. Umbilical wall defects or anal malformations may require surgical correction. Some affected individuals also have malformations of the kidneys.  The severity of the features of Manitoba oculotrichoanal syndrome may vary even within the same family. With appropriate treatment, affected individuals generally have normal growth and development, intelligence, and life expectancy.
Question: What are the genetic changes related to sickle cell disease ?

Answer: Mutations in the HBB gene cause sickle cell disease.  Hemoglobin consists of four protein subunits, typically, two subunits called alpha-globin and two subunits called beta-globin. The HBB gene provides instructions for making beta-globin. Various versions of beta-globin result from different mutations in the HBB gene. One particular HBB gene mutation produces an abnormal version of beta-globin known as hemoglobin S (HbS). Other mutations in the HBB gene lead to additional abnormal versions of beta-globin such as hemoglobin C (HbC) and hemoglobin E (HbE). HBB gene mutations can also result in an unusually low level of beta-globin; this abnormality is called beta thalassemia.  In people with sickle cell disease, at least one of the beta-globin subunits in hemoglobin is replaced with hemoglobin S. In sickle cell anemia, which is a common form of sickle cell disease, hemoglobin S replaces both beta-globin subunits in hemoglobin. In other types of sickle cell disease, just one beta-globin subunit in hemoglobin is replaced with hemoglobin S. The other beta-globin subunit is replaced with a different abnormal variant, such as hemoglobin C. For example, people with sickle-hemoglobin C (HbSC) disease have hemoglobin molecules with hemoglobin S and hemoglobin C instead of beta-globin. If mutations that produce hemoglobin S and beta thalassemia occur together, individuals have hemoglobin S-beta thalassemia (HbSBetaThal) disease.  Abnormal versions of beta-globin can distort red blood cells into a sickle shape. The sickle-shaped red blood cells die prematurely, which can lead to anemia. Sometimes the inflexible, sickle-shaped cells get stuck in small blood vessels and can cause serious medical complications.
Question: What is (are) Smith-Magenis syndrome ?

Answer: Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems.  Most people with Smith-Magenis syndrome have a broad, square-shaped face with deep-set eyes, full cheeks, and a prominent lower jaw. The middle of the face and the bridge of the nose often appear flattened. The mouth tends to turn downward with a full, outward-curving upper lip. These facial differences can be subtle in early childhood, but they usually become more distinctive in later childhood and adulthood. Dental abnormalities are also common in affected individuals.  Disrupted sleep patterns are characteristic of Smith-Magenis syndrome, typically beginning early in life. Affected people may be very sleepy during the day, but they have trouble falling asleep and awaken several times each night.  People with Smith-Magenis syndrome have affectionate, engaging personalities, but most also have behavioral problems. These include frequent temper tantrums and outbursts, aggression, anxiety, impulsiveness, and difficulty paying attention. Self-injury, including biting, hitting, head banging, and skin picking, is very common. Repetitive self-hugging is a behavioral trait that may be unique to Smith-Magenis syndrome. People with this condition also compulsively lick their fingers and flip pages of books and magazines (a behavior known as "lick and flip").  Other signs and symptoms of Smith-Magenis syndrome include short stature, abnormal curvature of the spine (scoliosis), reduced sensitivity to pain and temperature, and a hoarse voice. Some people with this disorder have ear abnormalities that lead to hearing loss. Affected individuals may have eye abnormalities that cause nearsightedness (myopia) and other vision problems. Although less common, heart and kidney defects also have been reported in people with Smith-Magenis syndrome.
Question: What are the complications of Mineral and Bone Disorder in Chronic Kidney Disease ?

Answer: The complications of mineral and bone disorder in CKD include slowed bone growth and deformities, and heart and blood vessel problems.
                
Slowed Bone Growth and Deformities
                
Damaged kidneys must work harder to clear phosphorus from the body. High levels of phosphorus cause lower levels of calcium in the blood, resulting in the following series of events:
                
- When a persons blood calcium level becomes too low, the parathyroid glands release parathyroid hormone.  - Parathyroid hormone removes calcium from bones and places it into the blood, raising a persons blood calcium level at the risk of harming bones.  - A low calcitriol level also leads to an increased level of parathyroid hormone.
                
If mineral and bone disorder in CKD remains untreated in adults, bones gradually become thin and weak, and a person with the condition may begin to feel bone and joint pain. Mineral and bone disorder in CKD also increases a persons risk of bone fractures.
                
Heart and Blood Vessel Problems
                
In addition to harming bones, mineral and bone disorder in CKD can cause problems in the heart and blood vessels:
                
- High levels of blood calcium can damage blood vessels and lead to heart problems.  - High phosphorus levels also can cause blood vessels to become like bone, leading to hardening of the arteries.  - High phosphorus levels also cause abnormal hormone regulation, even if the calcium level is acceptable.
                
Parathyroid hormone and another hormone made in the bones called FGF23 can also affect bone and heart health, leading to the following series of problems:
                
- When parathyroid hormone or FGF23 levels are high, a person can have heart problems.   - The complex hormone abnormalities that cause bone deformities can also harm a persons heart and blood vessels.
Question: What is (are) Insulin Resistance and Prediabetes ?

Answer: Metabolic syndrome, also called insulin resistance syndrome, is a group of traits and medical conditions linked to overweight and obesity that puts people at risk for both CVD and type 2 diabetes. Metabolic syndrome is defined* as the presence of any three of the following2:
                
- large waist sizewaist measurement of 40 inches or more for men and 35 inches or more for women  - high triglycerides in the bloodtriglyceride level of 150 milligrams per deciliter (mg/dL) or above, or taking medication for elevated triglyceride level  - abnormal levels of cholesterol in the bloodHDL, or good, cholesterol level below 40 mg/dL for men and below 50 mg/dL for women, or taking medication for low HDL  - high blood pressureblood pressure level of 130/85 or above, or taking medication for elevated blood pressure  - higher than normal blood glucose levelsfasting blood glucose level of 100 mg/dL or above, or taking medication for elevated blood glucose
                
In addition to type 2 diabetes, metabolic syndrome has been linked to the following health disorders:
                
- obesity  - CVD  - PCOS  - nonalcoholic fatty liver disease  - chronic kidney disease
                
However, not everyone with these disorders has insulin resistance, and some people may have insulin resistance without getting these disorders.
                
People who are obese or who have metabolic syndrome, insulin resistance, type 2 diabetes, or prediabetes often also have low-level inflammation throughout the body and blood clotting defects that increase the risk of developing blood clots in the arteries. These conditions contribute to increased risk for CVD.
                
*Similar definitions have been developed by the World Health Organization and the American Association of Clinical Endocrinologists.
Question: How to diagnose Paget's Disease of Bone ?

Answer: An Underdiagnosed Disease Experts believe that Paget's disease is underdiagnosed; people with a mild case and no symptoms may never know they have the disease. Or, they may receive a diagnosis by accident when x-rays or other laboratory tests done for another reason reveal Paget's disease. When symptoms do occur, they usually appear gradually and, in the early stages, may be confused with those of arthritis or other medical problems. Sometimes a person may not receive a clear diagnosis until the disease progresses and complications develop. Diagnostic Tests X-rays are almost always used to diagnose Paget's disease, but the disease may be discovered using one of three tests: - x-rays  -  an alkaline phosphatase blood test  -  or a bone scan. x-rays an alkaline phosphatase blood test or a bone scan. Bones affected by Paget's disease have a distinctive appearance on x-rays, which may show increased bone density, an abnormal bone structure, bowing, and enlargement. X-rays of leg bones may show very tiny fractures called microfractures. The enzyme alkaline phosphatase is involved in the normal growth of new bone. Having higher-than-normal levels of this chemical in the blood, however, may be a sign of Paget's disease. The alkaline phosphatase blood test measures the level of this substance. A bone scan provides a picture of the affected bones that doctors can use to see how far the disease has progressed. If a bone scan done for another reason suggests Paget's disease, the doctor can order x-rays to confirm the diagnosis. If the Disease Runs in the Family Early diagnosis and treatment of Paget's disease is important. Because Paget's disease can be hereditary, some experts recommend that the brothers, sisters, and children of anyone with the disease talk to their doctor about having an alkaline phosphatase blood test every 2 to 3 years after about age 40.