umarjan11/Medical-qna huggingface dataset:
Question: Is Mondini dysplasia inherited ?

Answer: Is Mondini dysplasia inherited? Mondini dysplasia usually occurs sporadically as an isolated abnormality (occurring in only one individual in a family with no other abnormalities) but it can be associated with a variety of syndromes including Klippel Feil syndrome, Pendred syndrome, DiGeorge syndrome, Wildervanck syndrome, Fountain syndrome, Johanson-Blizzard syndrome, and some chromosomal trisomies. These syndromes can be inherited in a variety of ways, but Mondini dysplasia may not occur in each affected individual. It has also has been reported in families with congenital sensorineural hearing loss, both with autosomal dominant and presumed autosomal recessive inheritance. One study described familial nonsyndromic Mondini dysplasia in a mother, son and daughter with presumed autosomal dominant inheritance; another study described familial nonsyndromic Mondini dysplasia in a family in which transmission was most consistent with autosomal recessive inheritance. It has also been suggested that Mondini dysplasia may be associated with substances that may harm a developing fetus when a pregnant woman is exposed (teratogens) such as thalidomide or rubella. Being that Mondini dysplasia has been associated with a variety of conditions, inheritance patterns, and both genetic and non-genetic causes, it appears to be inherited in some cases, with the inheritance pattern being dependent upon the underlying cause of the condition in each individual or family.
Question: What are the symptoms of Partial atrioventricular canal ?

Answer: What are the signs and symptoms of Partial atrioventricular canal? The Human Phenotype Ontology provides the following list of signs and symptoms for Partial atrioventricular canal. 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) Autosomal dominant inheritance - Congestive heart failure - Cyanosis - First degree atrioventricular block - Inlet ventricular septal defect - Primum atrial septal defect - Pulmonary hypertension - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: Is Ehlers-Danlos syndrome inherited ?

Answer: Is Ehlers-Danlos syndrome inherited? The inheritance pattern of Ehlers-Danlos syndrome (EDS) varies by subtype. The arthrochalasia, classic, hypermobility, and vascular forms of the disorder usually have an autosomal dominant pattern of inheritance. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with one of these subtypes has a 50% chance with each pregnancy of passing along the altered gene to his or her child. The dermatosparaxis and kyphoscoliosis types of EDS are inherited in an autosomal recessive pattern. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Question: What are the symptoms of Giant platelet syndrome ?

Answer: What are the signs and symptoms of Giant platelet syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Giant platelet 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) Abnormal bleeding - Abnormality of the abdomen - Autosomal recessive inheritance - Epistaxis - Increased mean platelet volume - Menorrhagia - Prolonged bleeding time - Purpura - Thrombocytopenia - 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 Johnston Aarons Schelley syndrome ?

Answer: What are the signs and symptoms of Johnston Aarons Schelley syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Johnston Aarons Schelley 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) Dry skin 90% Hyperkeratosis 90% Hypertonia 90% Limitation of joint mobility 90% Morphological abnormality of the central nervous system 90% 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 Seow Najjar syndrome ?

Answer: What are the signs and symptoms of Seow Najjar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Seow Najjar 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) Aqueductal stenosis - Dental crowding - Headache - Hypoplasia of dental enamel - Shovel-shaped maxillary central incisors - Sporadic - Subcapsular cataract - Ventriculomegaly - 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 Paroxysmal extreme pain disorder ?

Answer: What are the signs and symptoms of Paroxysmal extreme pain disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Paroxysmal extreme pain disorder. 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) Constipation 50% Autosomal dominant inheritance - Bradycardia - Impaired pain sensation - Lacrimation abnormality - Mandibular pain - Neonatal onset - Ocular pain - Tachycardia - 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) Hereditary Spastic Paraplegia ?

Answer: Hereditary spastic paraplegia (HSP), also called familial spastic paraparesis (FSP), refers to a group of inherited disorders that are characterized by progressive weakness and spasticity (stiffness) of the legs. Early in the disease course, there may be mild gait difficulties and stiffness. These symptoms typically slowly progress so that eventually individuals with HSP may require the assistance of a cane, walker, or wheelchair. Though the primary features of "pure" HSP are progressive lower limb spasticity and weakness, complicated forms may be accompanied by other symptoms. These additional symptoms include impaired vision due to cataracts and problems with the optic nerve and retina of the eye, ataxia (lack of muscle coordination), epilepsy, cognitive impairment, peripheral neuropathy, and deafness. The diagnosis of HSP is primarily by neurological examination and testing to rule out other disorders. Brain MRI abnormalities, such as a thin corpus callosum, may be seen in some of the complicated forms of HSP. Several genetic mutations have been identified which underlie various forms of HSP, and specialized genetic testing and diagnosis are available at some medical centers. HSP has several forms of inheritance. Not all children in a family will necessarily develop symptoms, although they may be carriers of the abnormal gene. Symptoms may begin in childhood or adulthood, depending on the particular HSP gene involved.
Question: What are the genetic changes related to X-linked chondrodysplasia punctata 1 ?

Answer: X-linked chondrodysplasia punctata 1 is caused by genetic changes involving the ARSE gene. This gene provides instructions for making an enzyme called arylsulfatase E. The function of this enzyme is unknown, although it appears to be important for normal skeletal development and is thought to participate in a chemical pathway involving vitamin K. Evidence suggests that vitamin K normally plays a role in bone growth and maintenance of bone density.  Between 60 and 75 percent of males with the characteristic features of X-linked chondrodysplasia punctata 1 have a mutation in the ARSE gene. These mutations reduce or eliminate the function of arylsulfatase E. Another 25 percent of affected males have a small deletion of genetic material from the region of the X chromosome that contains the ARSE gene. These individuals are missing the entire gene, so their cells produce no functional arylsulfatase E. Researchers are working to determine how a shortage of arylsulfatase E disrupts the development of bones and cartilage and leads to the characteristic features of X-linked chondrodysplasia punctata 1.  Some people with the features of X-linked chondrodysplasia punctata 1 do not have an identified mutation in the ARSE gene or a deletion involving the gene. Other, as-yet-unidentified genetic and environmental factors may also be involved in causing this disorder.
Question: What are the genetic changes related to autosomal recessive hypotrichosis ?

Answer: Autosomal recessive hypotrichosis can be caused by mutations in the LIPH, LPAR6, or DSG4 gene. These genes provide instructions for making proteins that are involved in the growth and division (proliferation) and maturation (differentiation) of cells within hair follicles. These cell processes are important for the normal development of hair follicles and for hair growth; as the cells in the hair follicle divide, the hair strand (shaft) is pushed upward and extends beyond the skin, causing the hair to grow. The proteins produced from the LIPH, LPAR6, and DSG4 genes are also found in the outermost layer of skin (the epidermis) and glands in the skin that produce a substance that protects the skin and hair (sebaceous glands).  Mutations in the LIPH, LPAR6, or DSG4 gene result in the production of abnormal proteins that cannot aid in the development of hair follicles. As a result, hair follicles are structurally abnormal and often underdeveloped. Irregular hair follicles alter the structure and growth of hair shafts, leading to woolly, fragile hair that is easily broken. A lack of these proteins in the epidermis likely contributes to the skin problems sometimes seen in affected individuals.  In some areas of the body, other proteins can compensate for the function of the missing protein, so not all areas with hair are affected and not all individuals have skin problems.
Question: What is (are) GRN-related frontotemporal dementia ?

Answer: GRN-related frontotemporal dementia is a progressive brain disorder that can affect behavior, language, and movement. The symptoms of this disorder usually become noticeable in a person's fifties or sixties, and affected people typically survive 6 to 7 years after the appearance of symptoms. However, the features of this condition vary significantly, even among affected members of the same family.  Behavioral changes are the most common early signs of GRN-related frontotemporal dementia. These include marked changes in personality, judgment, and insight. It may become difficult for affected individuals to interact with others in a socially appropriate manner. Affected people may also become easily distracted and unable to complete tasks. They increasingly require help with personal care and other activities of daily living.  Many people with GRN-related frontotemporal dementia develop progressive problems with speech and language (aphasia). Affected individuals may have trouble speaking, remembering words and names (dysnomia), and understanding speech. Over time, they may completely lose the ability to communicate.  Some people with GRN-related frontotemporal dementia also develop movement disorders, such as parkinsonism and corticobasal syndrome. The signs and symptoms of these disorders include tremors, rigidity, unusually slow movement (bradykinesia), involuntary muscle spasms (myoclonus), uncontrolled muscle tensing (dystonia), and an inability to carry out purposeful movements (apraxia).
Question: How to diagnose Hemorrhoids ?

Answer: The doctor will examine the anus and rectum to determine whether a person has hemorrhoids. Hemorrhoid symptoms are similar to the symptoms of other anorectal problems, such as fissures, abscesses, warts, and polyps.
                
The doctor will perform a physical exam to look for visible hemorrhoids. A digital rectal exam with a gloved, lubricated finger and an anoscopea hollow, lighted tubemay be performed to view the rectum.
                
A thorough evaluation and proper diagnosis by a doctor is important any time a person notices bleeding from the rectum or blood in the stool. Bleeding may be a symptom of other digestive diseases, including colorectal cancer.
                
Additional exams may be done to rule out other causes of bleeding, especially in people age 40 or older:
                
- Colonoscopy. A flexible, lighted tube called a colonoscope is inserted through the anus, the rectum, and the upper part of the large intestine, called the colon. The colonoscope transmits images of the inside of the rectum and the entire colon.  - Sigmoidoscopy. This procedure is similar to colonoscopy, but it uses a shorter tube called a sigmoidoscope and transmits images of the rectum and the sigmoid colon, the lower portion of the colon that empties into the rectum.  - Barium enema x ray. A contrast material called barium is inserted into the colon to make the colon more visible in x ray pictures.
Question: What to do for Medicare and Continuing Care ?

Answer: Nursing home care can be very expensive. Medicare generally doesn't cover nursing home care. There are many ways people can pay for nursing home care. For example, they can use their own money, they may be able to get help from their state, or they may use long-term care insurance. Nursing home care isn't covered by many types of health insurance. Most people who enter nursing homes begin by paying for their care out of their own pocket. As they use up their resources over a period of time, they may eventually become eligible for Medicaid. Medicaid is a state and Federal program that will pay most nursing home costs for people with limited income and resources. Eligibility varies by state. Medicaid pays for care for about 7 out of every 10 nursing home residents. Medicaid will pay for nursing home care only when provided in a Medicaid-certified facility. For information about Medicaid eligibility, call your state Medical Assistance (Medicaid) Office. If you have questions about Medicaid, you can call your State Medical Assistance (Medicaid) office for more information. Visit http://www.medicare.gov on the web. (Under "Search Tools," select "Find Helpful Phone Numbers and Websites.") Or, call 1-800-Medicare (1-800-633-4227) to get the telephone number. TTY users should call 1-877-486-2048.
Question: Do you have information about Bone Marrow Transplantation

Answer: Summary : Bone marrow is the spongy tissue inside some of your bones, such as your hip and thigh bones. It contains immature cells, called stem cells. The stem cells can develop into red blood cells, which carry oxygen throughout the body, white blood cells, which fight infections, and platelets, which help the blood to clot.    A bone marrow transplant is a procedure that replaces a person's faulty bone marrow stem cells. Doctors use these transplants to treat people with certain diseases, such as       - Leukemia    - Severe blood diseases such as thalassemias, aplastic anemia, and sickle cell anemia    - Multiple myeloma    - Certain immune deficiency diseases       Before you have a transplant, you need to get high doses of chemotherapy and possibly radiation. This destroys the faulty stem cells in your bone marrow. It also suppresses your body's immune system so that it won't attack the new stem cells after the transplant.    In some cases, you can donate your own bone marrow stem cells in advance. The cells are saved and then used later on. Or you can get cells from a donor. The donor might be a family member or unrelated person.    Bone marrow transplantation has serious risks. Some complications can be life-threatening. But for some people, it is the best hope for a cure or a longer life.    NIH: National Heart, Lung, and Blood Institute
Question: What are the symptoms of Glutaric acidemia type III ?

Answer: What are the signs and symptoms of Glutaric acidemia type III? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutaric acidemia type III. 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) Goiter 5% Hyperthyroidism 5% Autosomal recessive inheritance - Diarrhea - Failure to thrive - Glutaric aciduria - Hypertension - Vomiting - 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 Optic atrophy 2 ?

Answer: What are the signs and symptoms of Optic atrophy 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 2. 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) Absent Achilles reflex - Babinski sign - Dysarthria - Dysdiadochokinesis - Hyperactive patellar reflex - Intellectual disability - Optic atrophy - Tremor - X-linked 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.