umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Hypoparathyroidism-retardation-dysmorphism syndrome ?

Answer: What are the signs and symptoms of Hypoparathyroidism-retardation-dysmorphism syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypoparathyroidism-retardation-dysmorphism 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) Cognitive impairment 90% Convex nasal ridge 90% Deeply set eye 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% External ear malformation 90% Frontal bossing 90% High forehead 90% Hyperphosphatemia 90% Hypocalcemia 90% Hypoparathyroidism 90% Intrauterine growth retardation 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Seizures 90% Short foot 90% Short palm 90% Short stature 90% Thin vermilion border 90% Abnormality of dental enamel 50% Recurrent respiratory infections 50% Aplasia/Hypoplasia affecting the eye 7.5% Astigmatism 7.5% Cellular immunodeficiency 7.5% Cryptorchidism 7.5% Hypoplasia of penis 7.5% Increased bone mineral density 7.5% Intestinal obstruction 7.5% Myopathy 7.5% Opacification of the corneal stroma 7.5% Spinal canal stenosis 7.5% Ventriculomegaly 7.5% Autosomal recessive inheritance - Bifid uvula - Congenital hypoparathyroidism - Hypocalcemic seizures - Intellectual disability - Low-set ears - Micropenis - Patchy osteosclerosis - Posteriorly rotated ears - Postnatal growth retardation - Prominent forehead - Recurrent bacterial infections - Severe intrauterine growth retardation - Small hand - Tetany - 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 Fragile X syndrome ?

Answer: What are the signs and symptoms of Fragile X syndrome? Fragile X syndrome is characterized by developmental problems including intellectual disability and delayed speech and language development. Males are usually more severely affected than females. Additional features may include anxiety; attention deficit disorder (ADD); features of autism spectrum disorders that affect communication and social interaction; and seizures. Most males and some females with fragile X syndrome have characteristic physical features that become more apparent with age. These features may include a long and narrow face; large ears; a prominent jaw and forehead; unusually flexible fingers; flat feet; and in males, enlarged testicles (macroorchidism) after puberty. The Human Phenotype Ontology provides the following list of signs and symptoms for Fragile X 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) Cognitive impairment 90% Joint hypermobility 90% Macroorchidism 90% Neurological speech impairment 90% Otitis media 90% Pes planus 90% Abnormality of the pinna 50% Attention deficit hyperactivity disorder 50% Frontal bossing 50% Intellectual disability, moderate 50% Long face 50% Macrocephaly 50% Mandibular prognathia 50% Muscular hypotonia 50% Narrow face 50% Sinusitis 50% Abnormality of the mitral valve 7.5% Autism 7.5% Cerebral cortical atrophy 7.5% Dilatation of the ascending aorta 7.5% Seizures 7.5% Self-injurious behavior 7.5% Strabismus 7.5% Abnormal head movements - Coarse facial features - Congenital macroorchidism - Folate-dependent fragile site at Xq28 - Hyperactivity - Incomplete penetrance - Joint laxity - Large forehead - Macroorchidism, postpubertal - Macrotia - Mitral valve prolapse - Pectus excavatum - Periventricular gray matter heterotopia - Poor eye contact - Scoliosis - X-linked dominant inheritance - 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) Aicardi-Goutieres syndrome ?

Answer: Aicardi-Goutieres syndrome is a disorder that mainly affects the brain, the immune system, and the skin.  Most newborns with Aicardi-Goutieres syndrome do not show any signs or symptoms of the disorder at birth. However, about 20 percent are born with a combination of features that include an enlarged liver and spleen (hepatosplenomegaly), elevated blood levels of liver enzymes, a decrease in blood platelets (thrombocytopenia), and abnormal neurological responses. While this combination of signs and symptoms is typically associated with the immune system's response to congenital viral infection, no actual infection is found in these infants. For this reason, Aicardi-Goutieres syndrome is sometimes referred to as a "mimic of congenital infection."  Within the first year of life most individuals with Aicardi-Goutieres syndrome experience an episode of severe brain dysfunction (encephalopathy), typically lasting for several months. During this phase of the disorder, affected babies are usually extremely irritable and do not feed well. They may develop intermittent fevers in the absence of infection (sterile pyrexias) and may have seizures. They stop developing new skills and begin losing skills they had already acquired (developmental regression). Growth of the brain and skull slows down, resulting in an abnormally small head size (microcephaly). In this phase of the disorder, white blood cells and molecules associated with inflammation can be detected in the cerebrospinal fluid, which is the fluid that surrounds the brain and spinal cord (central nervous system). These abnormal findings are consistent with inflammation and tissue damage in the central nervous system.  The encephalopathic phase of Aicardi-Goutieres syndrome leaves behind permanent neurological damage that is usually severe. Medical imaging reveals deterioration of white matter in the brain (leukodystrophy). White matter consists of nerve fibers covered by myelin, which is a substance that insulates and protects nerves. Affected individuals also have abnormal deposits of calcium (calcification) in the brain.  Most people with Aicardi-Goutieres syndrome have profound intellectual disability. They also have significant neuromuscular problems including muscle stiffness (spasticity); involuntary tensing of various muscles (dystonia), especially those in the arms; and weak muscle tone (hypotonia) in the trunk.  About 40 percent of people with Aicardi-Goutieres syndrome have painful, itchy skin lesions, usually on the fingers, toes, and ears. These puffy, red lesions, which are called chilblains, are caused by inflammation of small blood vessels. They may be brought on or made worse by exposure to cold. Vision problems, joint stiffness, and mouth ulcers may also occur in this disorder.  As a result of the severe neurological problems usually associated with Aicardi-Goutieres syndrome, most people with this disorder do not survive past childhood. However, some affected individuals who have later onset and milder neurological problems may live into adulthood.
Question: What are the symptoms of Type 1 plasminogen deficiency ?

Answer: What are the signs and symptoms of Type 1 plasminogen deficiency? Type 1 plasminogen deficiency causes reduced levels of functional plasminogen. The rare inflammatory disease mainly affects the mucous membrances in different body sites. Although the symptoms and their severity may vary from person to person, the most common clinical manifestation is ligneous conjunctivitis, characterized by development of fibrin-rich, woodlike ('ligneous') pseudomembranous lesions. Involvement of the cornea may result in blindness. Other, less common manifestations are ligenous gingivitis, otitis media, ligneous bronchitis and pneumonia, involvement of the gastrointestinal or female genital tract, juvenile colloid milium of the skin (condition in which clear papules develop on sun-exposed areas of the skin), and congenital hydrocephalus. Although the condition is known to cause thrombotic events in mice, no reports of venous thrombosis in humans with the condition have been documented.[826] The Human Phenotype Ontology provides the following list of signs and symptoms for Type 1 plasminogen 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) Abnormality of the eye 90% Abnormality of the oral cavity 50% Abnormality of the intestine 7.5% Abnormality of the middle ear 7.5% Abnormality of the respiratory system 7.5% Dandy-Walker malformation 7.5% Hydrocephalus 7.5% Nephrolithiasis 7.5% Polycystic ovaries 7.5% Nephritis 5% Abnormality of metabolism/homeostasis - Abnormality of the cardiovascular system - Abnormality of the ear - Abnormality of the larynx - Abnormality of the skin - Autosomal recessive inheritance - Blindness - Cerebellar hypoplasia - Conjunctivitis - Duodenal ulcer - Gingival overgrowth - Gingivitis - Infantile onset - Macrocephaly - Periodontitis - Recurrent upper respiratory tract infections - 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 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ?

Answer: What are the signs and symptoms of Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. 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 adipose tissue 90% Abnormality of epiphysis morphology 90% Arthralgia 90% Behavioral abnormality 90% Bone cyst 90% Bone pain 90% Cerebral cortical atrophy 90% Developmental regression 90% Limitation of joint mobility 90% Memory impairment 90% Reduced bone mineral density 90% Skeletal dysplasia 90% Ventriculomegaly 90% Agnosia 50% Cerebral calcification 50% Chorea 50% Hypertonia 50% Neurological speech impairment 50% Oculomotor apraxia 50% Seizures 50% Abnormality of the abdominal organs 7.5% Acute leukemia 7.5% Hydrocephalus 7.5% Abnormal upper motor neuron morphology - Abnormality of the foot - Abnormality of the hand - Aggressive behavior - Apraxia - Autosomal recessive inheritance - Axonal loss - Babinski sign - Basal ganglia calcification - Caudate atrophy - Cerebral atrophy - Disinhibition - EEG abnormality - Frontal lobe dementia - Gait disturbance - Gliosis - Hypoplasia of the corpus callosum - Lack of insight - Leukoencephalopathy - Myoclonus - Pathologic fracture - Peripheral demyelination - Personality changes - Primitive reflexes (palmomental, snout, glabellar) - Spasticity - Urinary incontinence - 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: Who is at risk for Parasites - Baylisascaris infection? ?

Answer: Raccoons are the primary, or definitive, host of Baylisascaris procyonis, a roundworm. Raccoons become infected with Baylisascaris in one of two ways:
    
     - Young raccoons become infected by eating eggs during foraging, feeding, and grooming.
     - Adult raccoons acquire the infection by eating rodents, rabbits, and birds infected with the larvae of Baylisascaris.
    
    
Infected raccoons have been found throughout the United States, mainly in the Midwest, Northeast, Middle Atlantic, and West Coast.
    
Raccoons are peridomestic animals, which means they live in or around areas where people live. Roundworm eggs are passed in the feces of infected raccoons. Raccoons defecate in communal sites, called latrines. Raccoon latrines are often found at bases of trees, unsealed attics, or on flat surfaces such as logs, tree stumps, rocks, decks, and rooftops. As more raccoons move into populated areas, the number and density of their latrines will increase.
    
While raccoons are the roundworm's primary host, other types of animals can become infected. Birds and small mammals, such as rodents and rabbits, are susceptible to the parasite. Unlike raccoons, these animals sometimes show signs of infection, such as muscle spasms, tremors, and progressive weakness; infection can lead to death. Predator animals, including dogs, may become infected by eating an animal that has been infected with Baylisascaris. In some dogs, Baylisascaris may develop to adult worms and pass eggs in the dogs' feces.
    
The worms develop to maturity in the raccoon intestine, where they produce millions of eggs that are passed in the feces. Eggs that are excreted by raccoons are not immediately infectious. These eggs must develop in the environment for 2 to 4 weeks, after which the eggs are able to cause infection. The eggs are resistant to most environmental conditions and with adequate moisture, can survive for years.
    
     
    
    
Humans become infected by ingesting embryonated (fertile) eggs. Anyone who is exposed to environments where raccoons frequent is potentially at risk. Young children or developmentally disabled persons are at highest risk for infection as they may be more likely to put contaminated fingers, soil, or objects into their mouths.
    
Hunters, trappers, taxidermists, and wildlife handlers may also be at increased risk if they have contact with raccoons or raccoon habitats.
    
Fewer than 25 cases of Baylisascaris disease have been documented in the United States. However, it is possible that some cases are incorrectly diagnosed as other infections or go undiagnosed. Cases that are diagnosed tend to be severe.
    
Cases have been reported in California, Illinois, Louisiana, Massachusetts, Michigan, Minnesota, Missouri, New York, Oregon, and Pennsylvania. As of 2012, there were 16 published human neurological cases in the US; six of the infected persons died.
Question: What is (are) Dry Eye ?

Answer: Poor Tear Production Dry eye occurs when the eye does not produce tears properly, or when the tears are of poor quality and dry up quickly. The eyes need tears for overall eye health and clear vision. Dry eye can last a short time or it can be an ongoing condition. It can include a variety of symptoms, such as discomfort and pain. Your eyes may sting and burn and you may have redness and a sandy or gritty feeling, as if something is in your eye. You may have blurry vision and your eyes may feel tired. Having dry eyes can make it harder to do some activities, such as using a computer or reading for a long period of time, and it can make it hard to be in dry places, such as on an airplane.  Tears and Eye Health Tears are necessary for overall eye health and clear vision. The eye constantly makes tears to bathe, nourish, and protect the cornea. The cornea is the clear, dome-shaped outer surface that covers the eye in front of the iris, which is the colored part of the eye. The eye also makes tears in response to emergencies, such as a particle of dust in the eye, an infection or irritation of the eye, or an onset of strong emotions. Tears keep the eye moist, and wash away dust and debris. They also help protect the eye from infections. Tears are made of proteins (including growth factors), body salts, and vitamins that maintain the health of the eye surface and prevent infection.  Tear Components Tears have three major components. - an outer, oily, fat layer produced by the meibomian glands (located in the eyelids)  - a middle, watery, layer produced by the lacrimal glands (located just above the upper, outer corner of the eye)  - an inner, mucous layer produced by goblet cells (located within a thin clear layer which covers the white part of the eye and the inner surface of the eyelids called the conjunctiva). an outer, oily, fat layer produced by the meibomian glands (located in the eyelids) a middle, watery, layer produced by the lacrimal glands (located just above the upper, outer corner of the eye) an inner, mucous layer produced by goblet cells (located within a thin clear layer which covers the white part of the eye and the inner surface of the eyelids called the conjunctiva). When the lacrimal glands do not make enough tears, dry eye can result. Any disease process that changes the components of tears can make them unhealthy and result in dry eye. Type of Dry Eye There are two types of dry eye: aqueous tear-deficient dry eye and evaporative dry eye. Aqueous tear-deficient dry eye is a disorder in which the tear glands do not produce enough of the watery component of tears to maintain a healthy cornea. Evaporative dry eye may result from inflammation of the meibomian glands, located in the eyelids. These glands make the oily part of tears that slows evaporation and keeps the tears stable. Most people with dry eye will not have serious problems, but severe dry eye may lead to inflammation, ulcers, or scars on the cornea, and some loss of vision. Permanent loss of vision from dry eye is uncommon.
Question: What are the treatments for Thrombotic Thrombocytopenic Purpura ?

Answer: Thrombotic thrombocytopenic purpura (TTP) can be fatal or cause lasting damage, such as brain damage or a stroke, if it's not treated right away.
                
In most cases, TTP occurs suddenly and lasts for days or weeks, but it can go on for months. Relapses (flareups) can occur in up to 60 percent of people who have acquired TTP. Flareups also occur in most people who have inherited TTP.
                
Plasma treatments are the most common way to treat TTP. Other treatments include medicines and surgery. Treatments are done in a hospital.
                
Plasma Therapy
                
Plasma is the liquid part of your blood. It carries blood cells, hormones, enzymes, and nutrients to your body.
                
TTP is treated with plasma therapy. This includes:
                
Fresh frozen plasma for people who have inherited TTP
                
Plasma exchange for people who have acquired TTP
                
Plasma therapy is started in the hospital as soon as TTP is diagnosed or suspected.
                
For inherited TTP, fresh frozen plasma is given through an intravenous (IV) line inserted into a vein. This is done to replace the missing or changed ADAMTS13 enzyme.
                
Plasma exchange (also called plasmapheresis) is used to treat acquired TTP. This is a lifesaving procedure. It removes antibodies (proteins) from the blood that damage your ADAMTS13 enzyme. Plasma exchange also replaces the ADAMTS13 enzyme.
                
If plasma exchange isn't available, you may be given fresh frozen plasma until it is available.
                
During plasma exchange, an IV needle or tube is placed in a vein in your arm to remove blood. The blood goes through a cell separator, which removes plasma from the blood. The nonplasma part of the blood is saved, and donated plasma is added to it.
                
Then, the blood is put back into you through an IV line inserted into one of your blood vessels. The time required to complete the procedure varies, but it often takes about 2hours.
                
Treatments of fresh frozen plasma or plasma exchange usually continue until your blood tests results and signs and symptoms improve. This can take days or weeks, depending on your condition. You'll stay in the hospital while you recover.
                
Some people who recover from TTP have flareups. This can happen in the hospital or after you go home. If you have a flareup, your doctor will restart plasma therapy.
                
Other Treatments
                
Other treatments are used if plasma therapy doesn't work well or if flareups occur often.
                
For acquired TTP, medicines can slow or stop antibodies to the ADAMTS13 enzyme from forming. Medicines used to treat TTP include glucocorticoids, vincristine, rituximab, and cyclosporine A.
                
Sometimes surgery to remove the spleen (an organ in the abdomen) is needed. This is because cells in the spleen make the antibodies that block ADAMTS13 enzyme activity.