umarjan11/Medical-qna huggingface dataset:
Question: Who is at risk for Asbestos-Related Lung Diseases? ?

Answer: Until the late 1970s, asbestos was widely used in many industries in the United States. During that time, workplace rules to ensure workers' safety around asbestos weren't required by law.
                
Asbestos was used in or with many products. Examples include steam pipes, boilers, furnaces, and furnace ducts; wallboard; floor and ceiling tiles; wood-burning stoves and gas fireplaces; car brakes, clutches, and gaskets; railroad engines; roofing and shingles; and wall-patching materials and paints.
                
Asbestos also was used in many other products, such as fireproof gloves, ironing board covers, cooking pot handles, and hairdryers.
                
Anyone employed for a prolonged period in mining, milling, making, or installing asbestos products before the late 1970s is at risk for asbestos-related lung diseases. Some examples of these workers include:
                
Miners
                
Aircraft and auto mechanics
                
Building construction workers
                
Electricians
                
Shipyard workers
                
Boiler operators
                
Building engineers
                
Railroad workers
                
In general, the risk is greatest for people who worked with asbestos and were exposed for at least several months to visible dust from asbestos fibers. The risk for asbestos-related lung diseases also depends on:
                
How much asbestos you were exposed to.
                
How long you were exposed to asbestos, and how often during that time you were in direct contact with it.
                
The size, shape, and chemical makeup of the asbestos fibers. Different types of asbestos fibers can affect the lungs differently. For example, chrysotile asbestos (a curly fiber) is less likely to cause mesothelioma than amphibole asbestos (a straight fiber).
                
Your personal risks, such as smoking or having an existing lung disease.
                
Family members of people exposed to asbestos on the job also may be at risk. Family members may have breathed in asbestos fibers that were brought home on workers clothes, shoes, and bodies.
                
People who live in areas that have large deposits of asbestos in the soil also are at risk for asbestos-related lung diseases. However, this risk is limited to areas where the deposits were disturbed and asbestos fibers got into the air.
                
Asbestos fibers also can be released into the air when older buildings containing asbestos-made products are destroyed. Removing the products, such as during a building renovation, also can release asbestos fibers into the air.
                
Generally, being around asbestos-made products isnt a danger, as long as the asbestos is enclosed. This prevents the fibers from getting into the air.
                
People in the United States are less likely to develop asbestos-related lung diseases today than in the past. This is because the mineral no longer is widely used. Also, where asbestos is still used, rules and standards are now in place to protect workers and others from asbestos exposure.
Question: What is (are) mucopolysaccharidosis type II ?

Answer: Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a condition that affects many different parts of the body and occurs almost exclusively in males. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals.  At birth, individuals with MPS II do not display any features of the condition. Between ages 2 and 4, they develop full lips, large rounded cheeks, a broad nose, and an enlarged tongue (macroglossia). The vocal cords also enlarge, which results in a deep, hoarse voice. Narrowing of the airway causes frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea). As the disorder progresses, individuals need medical assistance to keep their airway open.  Many other organs and tissues are affected in MPS II. Individuals with this disorder often have a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), an enlarged liver and spleen (hepatosplenomegaly), and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). People with MPS II usually have thick skin that is not very stretchy. Some affected individuals also have distinctive white skin growths that look like pebbles. Most people with this disorder develop hearing loss and have recurrent ear infections. Some individuals with MPS II develop problems with the light-sensitive tissue in the back of the eye (retina) and have reduced vision. Carpal tunnel syndrome commonly occurs in children with this disorder and is characterized by numbness, tingling, and weakness in the hand and fingers. Narrowing of the spinal canal (spinal stenosis) in the neck can compress and damage the spinal cord. The heart is also significantly affected by MPS II, and many individuals develop heart valve problems. Heart valve abnormalities can cause the heart to become enlarged (ventricular hypertrophy) and can eventually lead to heart failure.  Children with MPS II grow steadily until about age 5, and then their growth slows and they develop short stature. Individuals with this condition have joint deformities (contractures) that significantly affect mobility. Most people with MPS II also have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Dysostosis multiplex includes a generalized thickening of most long bones, particularly the ribs.  There are two types of MPS II, called the severe and mild types. While both types affect many different organs and tissues as described above, people with severe MPS II also experience a decline in intellectual function and a more rapid disease progression. Individuals with the severe form begin to lose basic functional skills (developmentally regress) between the ages of 6 and 8. The life expectancy of these individuals is 10 to 20 years. Individuals with mild MPS II also have a shortened lifespan, but they typically live into adulthood and their intelligence is not affected. Heart disease and airway obstruction are major causes of death in people with both types of MPS II.
Question: What are the symptoms of Potocki-Lupski syndrome ?

Answer: What are the signs and symptoms of Potocki-Lupski syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Potocki-Lupski 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 chromosome segregation 90% Abnormality of the pharynx 90% Apnea 90% Attention deficit hyperactivity disorder 90% Autism 90% Cognitive impairment 90% Muscular hypotonia 90% Neurological speech impairment 90% Broad forehead 50% EEG abnormality 50% Hypermetropia 50% Scoliosis 50% Triangular face 50% Abnormality of dental morphology 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Dental malocclusion 7.5% Hearing impairment 7.5% Hypertelorism 7.5% Low-set, posteriorly rotated ears 7.5% Microcephaly 7.5% Short stature 7.5% Wide mouth 7.5% Hypothyroidism 5% Abnormal renal morphology - Abnormality of the cardiovascular system - Autosomal dominant inheritance - Delayed myelination - Dental crowding - Dysphasia - Echolalia - Expressive language delay - Failure to thrive - Feeding difficulties in infancy - Gastroesophageal reflux - Generalized hypotonia - High palate - Hyperactivity - Hypocholesterolemia - Hypoplasia of the corpus callosum - Intellectual disability, mild - Language impairment - Mandibular prognathia - Oral-pharyngeal dysphagia - Patent foramen ovale - Phenotypic variability - Poor eye contact - Prominent nasal tip - Receptive language delay - Seizures - Sleep apnea - Small for gestational age - Smooth philtrum - Sporadic - Stereotypic behavior - Trigonocephaly - 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) ovarian cancer ?

Answer: Ovarian cancer is a disease that affects women. In this form of cancer, certain cells in the ovary become abnormal and multiply uncontrollably to form a tumor. The ovaries are the female reproductive organs in which egg cells are produced. In about 90 percent of cases, ovarian cancer occurs after age 40, and most cases occur after age 60.  The most common form of ovarian cancer begins in epithelial cells, which are the cells that line the surfaces and cavities of the body. These cancers can arise in the epithelial cells on the surface of the ovary. However, researchers suggest that many or even most ovarian cancers begin in epithelial cells on the fringes (fimbriae) at the end of one of the fallopian tubes, and the cancerous cells migrate to the ovary.  Cancer can also begin in epithelial cells that form the lining of the abdomen (the peritoneum). This form of cancer, called primary peritoneal cancer, resembles epithelial ovarian cancer in its origin, symptoms, progression, and treatment. Primary peritoneal cancer often spreads to the ovaries. It can also occur even if the ovaries have been removed. Because cancers that begin in the ovaries, fallopian tubes, and peritoneum are so similar and spread easily from one of these structures to the others, they are often difficult to distinguish. These cancers are so closely related that they are generally considered collectively by experts.  In about 10 percent of cases, ovarian cancer develops not in epithelial cells but in germ cells, which are precursors to egg cells, or in hormone-producing ovarian cells called granulosa cells.  In its early stages, ovarian cancer usually does not cause noticeable symptoms. As the cancer progresses, signs and symptoms can include pain or a feeling of heaviness in the pelvis or lower abdomen, bloating, feeling full quickly when eating, back pain, vaginal bleeding between menstrual periods or after menopause, or changes in urinary or bowel habits. However, these changes can occur as part of many different conditions. Having one or more of these symptoms does not mean that a woman has ovarian cancer.  In some cases, cancerous tumors can invade surrounding tissue and spread to other parts of the body. If ovarian cancer spreads, cancerous tumors most often appear in the abdominal cavity or on the surfaces of nearby organs such as the bladder or colon. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers.  Some ovarian cancers cluster in families. These cancers are described as hereditary and are associated with inherited gene mutations. Hereditary ovarian cancers tend to develop earlier in life than non-inherited (sporadic) cases.  Because it is often diagnosed at a late stage, ovarian cancer can be difficult to treat; it leads to the deaths of about 140,000 women annually, more than any other gynecological cancer. However, when it is diagnosed and treated early, the 5-year survival rate is high.
Question: What is (are) Oral Cavity and Oropharyngeal Cancer ?

Answer: Key Points
                    - Oral cavity and oropharyngeal cancer are diseases in which malignant (cancer) cells form in the mouth and throat.    - The number of new cases of oral cavity and oropharyngeal cancer and the number of deaths from oral cavity and oropharyngeal cancer varies by race and gender.    - Different factors increase or decrease the risk of oral cavity and oropharyngeal cancer.
                
                
                    Oral cavity and oropharyngeal cancer are diseases in which malignant (cancer) cells form in the mouth and throat.
                    Oral cavity cancer forms in any of these tissues of the oral cavity:         - The front two thirds of the tongue.    - The gingiva (gums).    - The buccal mucosa (the lining of the inside of the cheeks).    - The floor (bottom) of the mouth under the tongue.    - The hard palate (the front of the roof of the mouth).    - The retromolar trigone (the small area behind the wisdom teeth).          Oropharyngeal cancer forms in any of these tissues of the oropharynx:         - The middle part of the pharynx (throat) behind the mouth.    - The back one third of the tongue.    - The soft palate (the back of the roof of the mouth).    - The side and back walls of the throat.    - The tonsils.          Most oral cavity and oropharyngeal cancers start in squamous cells, the thin, flat cells that line the lips, oral cavity, and oropharynx. Cancer that forms in squamous cells is called squamous cell carcinoma.   See the following PDQ summaries for more information about the screening, diagnosis, and treatment of oral cavity and oropharyngeal cancer:         -  Oral Cavity and Oropharyngeal Cancer Prevention     -  Lip and Oral Cavity Cancer Treatment     -  Oropharyngeal Cancer Treatment
                
                
                    The number of new cases of oral cavity and oropharyngeal cancer and the number of deaths from oral cavity and oropharyngeal cancer varies by race and gender.
                    Over the past ten years, the number of new cases and deaths from oral cavity and oropharyngeal cancer slightly increased in white men and women. The number slightly decreased among black men and women.   Oral cavity and oropharyngeal cancer is more common in men than in women. Although oral cavity and oropharyngeal cancer may occur in adults of any age, it occurs most often in those aged 55 to 64 years.   France, Brazil, and parts of Asia have much higher rates of oral cavity and oropharyngeal cancer than most other countries.    The number of new cases of oropharyngeal cancer caused by certain types of human papillomavirus (HPV) infection has increased. One kind of HPV, called HPV 16, is often passed from one person to another during sexual activity.
Question: What are the genetic changes related to nonsyndromic paraganglioma ?

Answer: The VHL, RET, SDHB, and SDHD genes can be mutated in both syndromic and nonsyndromic forms of paraganglioma and pheochromocytoma. Mutations in at least three additional genes, TMEM127, SDHA, and KIF1B, have been identified in people with the nonsyndromic form of these conditions. Gene mutations increase the risk of developing paraganglioma or pheochromocytoma by affecting control of cell growth and division.  Mutations in the VHL, SDHA, SDHB, and SDHD genes increase the risk of developing nonsyndromic paraganglioma or pheochromocytoma. The protein produced from the VHL gene helps break down other, unneeded proteins, including a protein called HIF that stimulates cell division and blood vessel formation under certain cellular conditions. The proteins produced from the SDHA, SHDB, and SDHD genes are each pieces (subunits) of an enzyme that is important for energy production in the cell. This enzyme also plays a role in the breakdown of the HIF protein. Mutations in the VHL, SDHA, SDHB, and SDHD genes stabilize the HIF protein, causing it to build up in cells. Excess HIF protein stimulates cells to divide and triggers the production of blood vessels when they are not needed. Rapid and uncontrolled cell division, along with the formation of new blood vessels, can lead to the development of tumors.  Mutations in the RET gene have been found in nonsyndromic pheochromocytoma in addition to a pheochromocytoma-predisposing syndrome. The protein produced from the RET gene is involved in signaling within cells that can stimulate cell division or maturation. Mutations in the RET gene overactivate the protein's signaling function, which can trigger cell growth and division in the absence of signals from outside the cell. This unchecked cell division can lead to the formation of tumors in the adrenal glands.  Mutations in the TMEM127 gene have been identified most commonly in people with nonsyndromic pheochromocytoma and are rarely seen in people with other paraganglioma. The TMEM127 protein normally controls a signaling pathway that induces cell growth and survival. Studies suggest that mutations in the TMEM127 gene lead to abnormal activation of cell growth, which may cause tumor formation.  Mutations in the KIF1B gene have been reported in nonsyndromic pheochromocytoma. Studies suggest that these mutations impair the function of the KIF1B protein, which normally triggers cells to self-destruct in a process called apoptosis. When apoptosis is impaired, cells grow and divide too quickly or in an uncontrolled way, potentially leading to tumor formation.  Many people with nonsyndromic paraganglioma or pheochromocytoma do not have a mutation in any of the genes associated with the conditions. It is likely that other, unidentified genes also predispose to development of paraganglioma or pheochromocytoma.
Question: What are the symptoms of Mesomelia-synostoses syndrome ?

Answer: What are the signs and symptoms of Mesomelia-synostoses syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mesomelia-synostoses syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the humerus 90% Abnormality of the metacarpal bones 90% Abnormality of the tibia 90% Aplasia/Hypoplasia of the uvula 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Limitation of joint mobility 90% Micromelia 90% Ptosis 90% Short foot 90% Short stature 90% Short toe 90% Skeletal dysplasia 90% Synostosis of carpal bones 90% Tarsal synostosis 90% Telecanthus 90% Ulnar deviation of finger 90% Abnormality of the femur 50% Abnormal nasal morphology 7.5% Abnormality of the ankles 7.5% Abnormality of the eyebrow 7.5% Abnormality of the upper urinary tract 7.5% Convex nasal ridge 7.5% Genu valgum 7.5% Hearing impairment 7.5% Hypoplasia of the zygomatic bone 7.5% Long philtrum 7.5% Myopia 7.5% Narrow mouth 7.5% Triangular face 7.5% Umbilical hernia 7.5% Short umbilical cord 3/5 Abnormality of the abdomen - Abnormality of the vertebrae - Absent uvula - Autosomal dominant inheritance - Hydronephrosis - Hypertelorism - Mesomelia - Mesomelic short stature - Microretrognathia - Nasal speech - Partial fusion of proximal row of carpal bones - Progressive forearm bowing - Ulnar deviation of the hand or of fingers of the hand - 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 Opsismodysplasia ?

Answer: What are the signs and symptoms of Opsismodysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Opsismodysplasia. 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% Abnormal vertebral ossification 90% Abnormality of epiphysis morphology 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the fontanelles or cranial sutures 90% Abnormality of the metaphyses 90% Brachydactyly syndrome 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% Frontal bossing 90% Limb undergrowth 90% Macrocephaly 90% Respiratory insufficiency 90% Short nose 90% Tapered finger 90% Muscular hypotonia 50% Recurrent respiratory infections 50% Abnormality of thumb phalanx 7.5% Blue sclerae 7.5% Hepatomegaly 7.5% Limitation of joint mobility 7.5% Narrow chest 7.5% Pectus excavatum 7.5% Splenomegaly 7.5% Hypophosphatemia 5% Renal phosphate wasting 5% Anterior rib cupping - Anteverted nares - Autosomal recessive inheritance - Bell-shaped thorax - Disproportionate short-limb short stature - Edema - Flat acetabular roof - Hypertelorism - Hypoplastic ischia - Hypoplastic pubic bone - Hypoplastic vertebral bodies - Large fontanelles - Long philtrum - Metaphyseal cupping - Polyhydramnios - Posterior rib cupping - Protuberant abdomen - Rhizomelia - Severe platyspondyly - Short foot - Short long bone - Short neck - Short palm - Squared iliac bones - 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.