umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Thoracic Outlet Syndrome ?

Answer: TOS is an umbrella term that encompasses three related syndromes that involve compression of the nerves, arteries, and veins in the lower neck and upper chest area and cause pain in the arm, shoulder, and neck. Most doctors agree that TOS is caused by compression of the brachial plexus or subclavian vessels as they pass through narrow passageways leading from the base of the neck to the armpit and arm, but there is considerable disagreement about its diagnosis and treatment. Making the diagnosis of TOS even more difficult is that a number of disorders feature symptoms similar to those of TOS, including rotator cuff injuries, cervical disc disorders, fibromyalgia, multiple sclerosis, complex regional pain syndrome, and tumors of the syrinx or spinal cord. The disorder can sometimes be diagnosed in a physical exam by tenderness in the supraclavicular area, weakness and/or a "pins and needles" feeling when elevating the hands, weakness in the fifth ("little") finger, and paleness in the palm of one or both hands when the individual raises them above the shoulders, with the fingers pointing to the ceiling. Symptoms of TOS vary depending on the type.  Neurogenic TOS has a characteristic sign, called the Gilliatt-Sumner hand, in which there is severe wasting in the fleshy base of the thumb. Other symptoms include paresthesias (pins and needles sensation or numbness) in the fingers and hand, change in hand color, hand coldness, or dull aching pain in the neck, shoulder, and armpit.  Venous TOS features pallor, a weak or absent pulse in the affected arm, which also may be cool to the touch and appear paler than the unaffected arm. Symptoms may include numbness, tingling, aching, swelling of the extremity and fingers, and weakness of the neck or arm..  Arterial TOS most prominently features change in color and cold sensitivity in the hands and fingers, swelling, heaviness, paresthesias and poor blood circulation in the arms, hands, and fingers..
                
There are many causes of TOS, including physical trauma, anatomical defects, tumors that press on nerves, poor posture that causes nerve compression, pregnancy, and repetitive arm and shoulder movements and activity, such as from playing certain sports.  TOS is more common in women. The onset of symptoms usually occurs between 20 and 50 years of age. Doctors usually recommend nerve conduction studies, electromyography, or imaging studies to confirm or rule out a diagnosis of TOS.
Question: What is (are) Leigh syndrome ?

Answer: Leigh syndrome is a severe neurological disorder that typically arises in the first year of life. This condition is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within a couple of years, usually due to respiratory failure. A small number of individuals develop symptoms in adulthood or have symptoms that worsen more slowly.  The first signs of Leigh syndrome seen in infancy are usually vomiting, diarrhea, and difficulty swallowing (dysphagia) that leads to eating problems. These problems often result in an inability to grow and gain weight at the expected rate (failure to thrive). Severe muscle and movement problems are common in Leigh syndrome. Affected individuals may develop weak muscle tone (hypotonia), involuntary muscle contractions (dystonia), and problems with movement and balance (ataxia). Loss of sensation and weakness in the limbs (peripheral neuropathy), common in people with Leigh syndrome, may also make movement difficult.  Several other features may occur in people with Leigh syndrome. Many affected individuals develop weakness or paralysis of the muscles that move the eyes (ophthalmoparesis); rapid, involuntary eye movements (nystagmus); or degeneration of the nerves that carry information from the eyes to the brain (optic atrophy). Severe breathing problems are common in people with Leigh syndrome, and these problems can worsen until they cause acute respiratory failure. Some affected individuals develop hypertrophic cardiomyopathy, which is a thickening of the heart muscle that forces the heart to work harder to pump blood. In addition, a substance called lactate can build up in the body, and excessive amounts are often found in the blood, cerebrospinal fluid, or urine of people with Leigh syndrome.  The signs and symptoms of Leigh syndrome are caused in part by patches of damaged tissue (lesions) that develop in the brains of people with this condition. A procedure called magnetic resonance imaging (MRI) reveals characteristic lesions in certain regions of the brain and the brainstem (the part of the brain that is connected to the spinal cord). These regions include the basal ganglia, which help control movement; the cerebellum, which controls the ability to balance and coordinates movement; and the brainstem, which controls functions such as swallowing, breathing, hearing, and seeing. The brain lesions are often accompanied by loss of the myelin coating around nerves (demyelination), which reduces the ability of the nerves to activate muscles used for movement or relay sensory information back to the brain.
Question: What is (are) X-linked chondrodysplasia punctata 2 ?

Answer: X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females.  Although the signs and symptoms of this condition vary widely, almost all affected individuals have chondrodysplasia punctata, an abnormality that appears on x-rays as spots (stippling) near the ends of bones and in cartilage. In this form of chondrodysplasia punctata, the stippling typically affects the long bones in the arms and legs, the ribs, the spinal bones (vertebrae), and the cartilage that makes up the windpipe (trachea). The stippling is apparent in infancy but disappears in early childhood. Other skeletal abnormalities seen in people with X-linked chondrodysplasia punctata 2 include shortening of the bones in the upper arms and thighs (rhizomelia) that is often different on the right and left sides, and progressive abnormal curvature of the spine (kyphoscoliosis). As a result of these abnormalities, people with this condition tend to have short stature.  Infants with X-linked chondrodysplasia punctata 2 are born with dry, scaly patches of skin (ichthyosis) in a linear or spiral (whorled) pattern. The scaly patches fade over time, leaving abnormally colored blotches of skin without hair (follicular atrophoderma). Most affected individuals also have sparse, coarse hair on their scalps.  Most people with X-linked chondrodysplasia punctata 2 have clouding of the lens of the eye (cataracts) from birth or early childhood. Other eye abnormalities that have been associated with this disorder include unusually small eyes (microphthalmia) and small corneas (microcornea). The cornea is the clear front surface of the eye. These eye abnormalities can impair vision.  In affected females, X-linked chondrodysplasia punctata 2 is typically associated with normal intelligence and a normal lifespan. However, a much more severe form of the condition has been reported in a small number of males. Affected males have some of the same features as affected females, as well as weak muscle tone (hypotonia), changes in the structure of the brain, moderately to profoundly delayed development, seizures, distinctive facial features, and other birth defects. The health problems associated with X-linked chondrodysplasia punctata 2 are often life-threatening in males.
Question: What are the treatments for Biliary Atresia ?

Answer: Biliary atresia is treated with surgery, called the Kasai procedure, or a liver transplant.
                
Kasai Procedure
                
The Kasai procedure, named after the surgeon who invented the operation, is usually the first treatment for biliary atresia. During a Kasai procedure, the pediatric surgeon removes the infants damaged bile ducts and brings up a loop of intestine to replace them. As a result, bile flows straight to the small intestine.
                
While this operation doesnt cure biliary atresia, it can restore bile flow and correct many problems caused by biliary atresia. Without surgery, infants with biliary atresia are unlikely to live past age 2. This procedure is most effective in infants younger than 3 months old, because they usually havent yet developed permanent liver damage. Some infants with biliary atresia who undergo a successful Kasai procedure regain good health and no longer have jaundice or major liver problems.
                
If the Kasai procedure is not successful, infants usually need a liver transplant within 1 to 2 years. Even after a successful surgery, most infants with biliary atresia slowly develop cirrhosis over the years and require a liver transplant by adulthood.
                
Liver Transplant
                
Liver transplantation is the definitive treatment for biliary atresia, and the survival rate after surgery has increased dramatically in recent years. As a result, most infants with biliary atresia now survive. Progress in transplant surgery has also increased the availability and efficient use of livers for transplantation in children, so almost all infants requiring a transplant can receive one.
                
In years past, the size of the transplanted liver had to match the size of the infants liver. Thus, only livers from recently deceased small children could be transplanted into infants with biliary atresia. New methods now make it possible to transplant a portion of a deceased adults liver into an infant. This type of surgery is called a reduced-size or split-liver transplant.
                
Part of a living adult donors liver can also be used for transplantation. Healthy liver tissue grows quickly; therefore, if an infant receives part of a liver from a living donor, both the donor and the infant can grow complete livers over time.
                
Infants with fetal biliary atresia are more likely to need a liver transplantand usually soonerthan infants with the more common perinatal form. The extent of damage can also influence how soon an infant will need a liver transplant.
Question: what research (or clinical trials) is being done for Adult Central Nervous System Tumors ?

Answer: New types of treatment are being tested in clinical trials.
                    This summary section refers to new treatments being studied in clinical trials, but it may not mention every new treatment being studied. Information about clinical trials is available from the NCI website.     Proton beam radiation therapy     Proton beam radiation therapy is a type of high-energy, external radiation therapy that uses streams of protons (small, positively-charged pieces of matter) to make radiation. This type of radiation kills tumor cells with little damage to nearby tissues. It is used to treat cancers of the head, neck, and spine and organs such as the brain, eye, lung, and prostate. Proton beam radiation is different from x-ray radiation.        Biologic therapy     Biologic therapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy.    Biologic therapy is being studied for the treatment of some types of brain tumors. Treatments may include the following:            -  Dendritic cell vaccine therapy.     -  Gene therapy.
                
                
                    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 Axenfeld-Rieger syndrome type 1 ?

Answer: What are the signs and symptoms of Axenfeld-Rieger syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Axenfeld-Rieger syndrome type 1. 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 anterior chamber 90% Aplasia/Hypoplasia of the iris 90% Posterior embryotoxon 90% Glaucoma 50% Hearing impairment 50% Malar flattening 50% Abnormality of the hypothalamus-pituitary axis 7.5% Cutis laxa 7.5% Depressed nasal bridge 7.5% Displacement of the external urethral meatus 7.5% Frontal bossing 7.5% Hypertelorism 7.5% Microdontia 7.5% Reduced number of teeth 7.5% Telecanthus 7.5% Urogenital fistula 7.5% Abnormality of the abdominal wall - Abnormally prominent line of Schwalbe - Anal atresia - Anal stenosis - Aniridia - Autosomal dominant inheritance - Growth hormone deficiency - Hypodontia - Hypoplasia of the iris - Hypoplasia of the maxilla - Hypospadias - Megalocornea - Microcornea - Polycoria - Prominent supraorbital ridges - Rieger anomaly - Short philtrum - Strabismus - Variable expressivity - Wide nasal bridge - 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 Emanuel syndrome ?

Answer: What are the signs and symptoms of Emanuel syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Emanuel 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 metabolism/homeostasis - Anal atresia - Aortic valve stenosis - Atria septal defect - Broad jaw - Cerebral atrophy - Cleft palate - Congenital diaphragmatic hernia - Congenital hip dislocation - Constipation - Cryptorchidism - Deeply set eye - Delayed eruption of primary teeth - Delayed speech and language development - Dental crowding - Facial asymmetry - Feeding difficulties - Gastroesophageal reflux - Hearing impairment - High palate - Hypoplasia of the corpus callosum - Inguinal hernia - Intellectual disability - Intrauterine growth retardation - Kyphosis - Long philtrum - Low hanging columella - Low-set ears - Low-set nipples - Macrotia - Microcephaly - Micropenis - Muscular hypotonia - Myopia - Patent ductus arteriosus - Preauricular pit - Preauricular skin tag - Pulmonic stenosis - Recurrent otitis media - Recurrent respiratory infections - Renal agenesis - Renal hypoplasia - Scoliosis - Seizures - Single umbilical artery - Strabismus - Thickened nuchal skin fold - Truncus arteriosus - Upslanted palpebral fissure - Ventricular septal defect - 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 Microcephalic primordial dwarfism, Montreal type ?

Answer: What are the signs and symptoms of Microcephalic primordial dwarfism, Montreal type? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephalic primordial dwarfism, Montreal type. 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 dermatoglyphics 90% Abnormal hair quantity 90% Abnormality of the nipple 90% Abnormality of the palate 90% Carious teeth 90% Cognitive impairment 90% Convex nasal ridge 90% Cryptorchidism 90% Dental malocclusion 90% Dry skin 90% EEG abnormality 90% Hernia of the abdominal wall 90% Hyperhidrosis 90% Hyperreflexia 90% Hypertonia 90% Kyphosis 90% Lipoatrophy 90% Low posterior hairline 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Premature graying of hair 90% Ptosis 90% Reduced bone mineral density 90% Scoliosis 90% Shagreen patch 90% Short stature 90% Vertebral segmentation defect 90% Alopecia of scalp - Autosomal recessive inheritance - Brain very small - Excessive wrinkling of palmar skin - Intellectual disability - Large eyes - Narrow face - Retrognathia - Severe short stature - 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 Pyruvate kinase deficiency ?

Answer: What are the signs and symptoms of Pyruvate kinase deficiency? The signs and symptoms of pyruvate kinase deficiency may vary greatly from person to person, but usually include the breakdown of red blood cells resulting in hemolytic anemia, a yellowing of the whites of the eyes (icterus), fatigue, lethargy, recurrent gallstones, jaundice, and pale skin (pallor).  In more severe cases, the first signs and symptoms may appear in utero in the form of hydrops fetalis, a condition in which abnormal amounts of fluid build up in two or more body areas of the fetus. Newborns may present with prolonged jaundice and anemia. Older children may be pale (due to anemia) and have intermittent episodes of jaundice. Mild cases may escape detection until adulthood. Although the anemia tends to stabilize in adulthood, episodes of anemia may occur with acute infections, stress, and pregnancy. The Human Phenotype Ontology provides the following list of signs and symptoms for Pyruvate kinase deficiency. 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) Intrauterine growth retardation 5% Nonimmune hydrops fetalis 5% Abnormality of the amniotic fluid - Autosomal recessive inheritance - Cholecystitis - Cholelithiasis - Chronic hemolytic anemia - Increased red cell osmotic fragility - Jaundice - Reticulocytosis - Splenomegaly - Unconjugated hyperbilirubinemia - 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.