Ahmed062646/NLP_Medora_Datasets huggingface dataset:
Question: How to diagnose Schizencephaly ?
Answer: Is genetic testing available for schizencephaly? In rare cases, people affected by schizencephaly are found to have changes (mutations) in one of four genes: EMX2, SIX3, SHH, and COL4A1. Genetic testing is available for these families. How is schizencephaly diagnosed? Schizencephaly is typically diagnosed by computed tomography (CT) and/or magnetic resonance imaging (MRI). A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the brain and surrounding nerve tissues. Both of these imaging methods can be used to identify brain abnormalities such as the slits or clefts found in people with schizencephaly. In some cases, schizencephaly can also be diagnosed prenatally (before birth) on ultrasound after 20 weeks gestation. If clefting is seen on ultrasound, an MRI scan of the developing baby may be recommended to confirm the diagnosis.
Question: What are the treatments for Schizencephaly ?
Answer: How might schizencephaly be treated? The best treatment options for people with schizencephaly depend on many factors, including the severity of the condition and the signs and symptoms present. For example, people with developmental delay (i.e. delayed motor milestones) or partial paralysis may be referred for physical therapy and/or occupational therapy. Medications are often prescribed to prevent seizures. In cases that are complicated by hydrocephalus, a surgically implanted tube, called a shunt, is often used to divert fluid to another area of the body where it can be absorbed.
Question: What are the symptoms of Cleft palate X-linked ?
Answer: What are the signs and symptoms of Cleft palate X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft palate X-linked. 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) Bifid uvula - Cleft palate - 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.
Question: What causes Wolfram syndrome ?
Answer: What causes Wolfram syndrome? There are two types of Wolfram syndrome (type 1 and type 2) which are primarily differentiated by their genetic cause. Changes (mutations) in the WFS1 gene are responsible for approximately 90% of Wolfram syndrome type 1 cases. This gene encodes wolframin, a protein that is important for the proper functioning of the endoplasmic reticulum (the part of a cell that is involved in protein production, processing, and transport). Wolframin helps regulate the amount of calcium in cells, which is important for many different cellular functions. Mutations in WFS1 result in a defective form of wolframin that is unable to perform its normal role. This causes cells to trigger their own death (apoptosis). The death of cells in various organs and other parts of the body results in the signs and symptoms of Wolfram syndrome type 1. A specific mutation in the CISD2 gene causes Wolfram syndrome type 2. Although the exact function of this gene is not known, scientists suspect that it plays an important role in the mitochondria (the part of the cell where energy is produced). Mutations in CISD2 lead to the loss of mitochondria which decreases the amount of energy available to cells. Cells that do not have enough energy die. As in Wolfram syndrome type 1, the death of cells in different parts of the body results in the many health problems associated with Wolfram syndrome type 2. Mutations in mitochondrial DNA may also be a rare cause of Wolfram syndrome in some families.
Question: Is Wolfram syndrome inherited ?
Answer: Is Wolfram syndrome inherited? Wolfram syndrome is inherited in an autosomal recessive manner. 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: How to diagnose Wolfram syndrome ?
Answer: How is Wolfram syndrome diagnosed? A diagnosis of Wolfram syndrome is based on the presence of characteristic signs and symptoms. The identification of a change (mutation) in the WFS1 gene or CISD2 gene confirms the diagnosis. Is genetic testing available for Wolfram syndrome? Yes. Clinical genetic testing is available for changes (mutations) in WFS1 and CISD2, the two genes known to cause Wolfram syndrome type 1 and Wolfram syndrome type 2, respectively. Carrier testing for at-risk relatives and prenatal testing are possible if the two disease-causing mutations in the family are known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. It offers information on genetic testing for Wolfram syndrome type 1 and Wolfram syndrome type 2. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Question: What are the treatments for Wolfram syndrome ?
Answer: How might Wolfram syndrome be treated? Treatment of Wolfram syndrome is supportive and based on the signs and symptoms present in each person. For example, almost all affected people require insulin to treat diabetes mellitus. People with hearing loss may benefit from hearing aids or cochlear implantation. For more detailed information regarding the treatment and management of Wolfram syndrome, click here.
Question: What is (are) Hemangiopericytoma ?
Answer: Hemangiopericytoma is a term used to described a group of tumors that are derived from pericytes, the cells normally arranged along specific types of blood vessels called capillaries and venules. These types of tumors are typically slow-growing, may be either benign (non-cancerous) or malignant (cancerous), and may occur anywhere in the body.
Question: What are the symptoms of Hemangiopericytoma ?
Answer: What are the signs and symptoms of Hemangiopericytoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemangiopericytoma. 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 cardiovascular system - Autosomal recessive 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 causes Hemangiopericytoma ?
Answer: What causes hemangiopericytoma? The cause of the disease is unknown, and no strong clinical data exist to indicate a convincing link to specific causes. Some reports suggest a relationship between hemangiopericytoma and occupational vinyl chloride exposure, as well as exposure to herbicides.
Question: What are the treatments for Hemangiopericytoma ?
Answer: What treatment is available for meningeal hemangiopericytoma? Radical surgical resection with removal of all meningeal attachments is typically the preferred treatment. However this treatment option is generally possible in only 50-67% of patients who have meningeal hemangiopericytoma. Embolization prior to surgery is recommended because of the excessive bleeding associated with these tumors. Embolization is a method of stopping the blood flow to the tumor. This can be done mechanicially or through the use of chemicals that cause blood vessels to close. If chemicals that kill cells are used during embolization the procedure is referred to as chemoembolization.
Question: Is Focal dermal hypoplasia inherited ?
Answer: How is this condition inherited? Focal dermal hypoplasia is caused by mutations in the PORCN gene and is inherited in an X-linked dominant manner. Many cases of focal dermal hypoplasia result from a new mutation and occur in people with no history of the disorder in their family For a woman affected with focal dermal hypoplasia, the theoretical risk of passing the mutation to each of her offspring is 50%; however, many males with this condition do not survive. In addition, there are cases in which a woman may have the focal dermal hypoplasia mutation in some but not all of her egg cells, a condition known as germline mosaicism. In this case the risk of passing along the mutation may be as high as 50% depending on the level of mosaicism. Males with focal dermal hypoplasia typically have the mutation in some but not all of their cells. The risk that a male with FDH will pass the condition on to his daughters may be as high as 100%; men do not pass this condition on to their sons. We recommend discussing specific concerns with a genetics professional, who can help you understand how this condition might be inherited in your family. Click on the following link for resources for finding a genetics professional.
Question: What are the symptoms of Homocarnosinosis ?
Answer: What are the signs and symptoms of Homocarnosinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Homocarnosinosis. 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 retinal pigmentation - Abnormality of skin pigmentation - Autosomal recessive inheritance - Carnosinuria - Intellectual disability - Spastic paraplegia - 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) Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia ?
Answer: Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia is a rare condition characterized by alopecia (hair loss); nail dystrophy (abnormal development of the nails); ophthalmic (eye-related) complications; thyroid dysfunction (primary hypothyroidism); hypohidrosis; ephelides (freckles); enteropathy (disease of the intestine); and respiratory tract infections due to ciliary dyskinesia. These features have lead to the acronym ANOTHER syndrome as an alternative name for the condition. The gene that causes the condition is currently unknown but it is thought to be inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive.
Question: What is (are) Biotin-thiamine-responsive basal ganglia disease ?
Answer: Biotin-thiamine-responsive basal ganglia disease is a rare condition that affects the brain and other parts of the nervous system. The severity of the condition and the associated signs and symptoms vary from person to person, even within the same family. Without early diagnosis and treatment, most affected people develop features of the condition between ages 3 and 10 years. Signs and symptoms may include recurrent episodes of confusion, seizures, ataxia (problems coordinating movements), dystonia, facial palsy (weakness of the facial muscles), external ophthalmoplegia (paralysis of the muscles surrounding the eye), and dysphagia. Eventually, these episodes can lead to coma or even death. Biotin-thiamine-responsive basal ganglia disease is caused by changes (mutations) in the SLC19A3 gene and is inherited in an autosomal recessive manner. As its name suggests, early and lifelong treatment with the vitamins biotin and thiamine may improve the symptoms.
Question: What are the symptoms of Biotin-thiamine-responsive basal ganglia disease ?
Answer: What are the signs and symptoms of Biotin-thiamine-responsive basal ganglia disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Biotin-thiamine-responsive basal ganglia disease. 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 basal ganglia - Autosomal recessive inheritance - Babinski sign - Coma - Confusion - Craniofacial dystonia - Dysarthria - Dysphagia - Encephalopathy - External ophthalmoplegia - Fever - Gait ataxia - Inability to walk - Irritability - Juvenile onset - Morphological abnormality of the pyramidal tract - Muscular hypotonia of the trunk - Mutism - Nystagmus - Paraparesis - Ptosis - Rigidity - Seizures - 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) Mnire's disease ?
Answer: Mnire's disease is an abnormality of the inner ear. Signs and symptoms may include disabling vertigo or severe dizziness lasting from minutes to hours; tinnitus or a roaring sound in the ears; fluctuating hearing loss; and the sensation of pressure or pain in the affected ear. A small percentage of people have drop attacks, also called spells of Tumarkin. The disorder usually affects only one ear and is a common cause of hearing loss. Some people develop symptoms in both ears many years after their initial diagnosis. The exact cause of Mnire's disease is unknown, but the symptoms are thought to be associated with a change in fluid volume within a portion of the inner ear known as the labyrinth. Treatment may include medications or surgery depending on the severity of the condition.
Question: What causes Mnire's disease ?
Answer: What causes Mnire's disease? The underlying cause of Mnire's disease is unknown, although it probably results from a combination of environmental and genetic factors. Possible factors that have been studied include viral infections; trauma to the middle ear; middle ear infection (otitis media); head injury; a hereditary predisposition; syphilis; allergies; abnormal immune system responses; migraines; and noise pollution. The symptoms of Mnire's disease are thought to relate to changes in fluid volume in the inner ear, which contains structures necessary for normal hearing and balance. Changes in fluid volume may disrupt signals sent from the inner ear to the brain, or may lead to tears or ruptures of the structures that affect hearing and balance. More detailed information about the causes of symptoms associated with Mnire's disease is available on NIDCD's Web site.
Question: How to diagnose Mnire's disease ?
Answer: How is Mnire's disease diagnosed? The hallmark of Mnire's disease is the fluctuation, waxing and waning of symptoms. Proper diagnosis of Mnire's disease entails several procedures, including a medical history interview; a physical examination; hearing and balance tests; and medical imaging with magnetic resonance imaging (MRI). Accurate measurement and characterization of hearing loss are of critical importance in the diagnosis of Mnire's disease. Through the use of several types of hearing tests, physicians can characterize hearing loss as being sensory (arising from the inner ear) or neural (arising from the hearing nerve). Recording the auditory brain stem response, which measures electrical activity in the hearing nerve and brain stem, is useful in differentiating between these two types of hearing loss. Electrocochleography, recording the electrical activity of the inner ear in response to sound, helps confirm the diagnosis. To test the vestibular or balance system, physicians irrigate the ears with warm and cool water or air. This procedure, known as caloric testing, results in nystagmus, rapid eye movements that can help a physician analyze a balance disorder. Since tumor growth can produce symptoms similar to Mnire's disease, an MRI is a useful test to determine whether a tumor is causing the patient's vertigo and hearing loss.
Question: What are the treatments for Mnire's disease ?
Answer: How might Mnire's disease be treated? At the present time there is no cure for Mnire's disease, but there are several safe and effective medical and surgical therapies that are available to help individuals cope with the symptoms. The symptoms of the disease are often controlled successfully by reducing the bodys retention of fluids through dietary changes (such as a low-salt or salt-free diet and no caffeine or alcohol). Medications such as antihistamines, anticholinergics, and diuretics may lower endolymphatic pressure by reducing the amount of endolymphatic fluid. Eliminating tobacco use and reducing stress levels may also help lessen the severity of symptoms. Symptoms such as dizziness, vertigo, and associated nausea and vomiting may respond to sedative/hypnotics, benzodiazepines like diazepam and anti-emetics. Different surgical procedures are an option for individuals with persistent, debilitating vertigo. Labyrinthectomy (removal of the inner ear sense organ) can effectively control vertigo, but sacrifices hearing and is reserved for patients with nonfunctional hearing in the affected ear. Vestibular neurectomy, selectively severing a nerve from the affected inner ear organ, usually controls the vertigo while preserving hearing but carries surgical risks. Recently, the administration of the ototoxic antibiotic gentamycin directly into the middle ear space has gained popularity worldwide for the control of vertigo associated with Mnire's disease. An article published in the journal Lancet in August 2008, written by Sajjadi and Paparella, reviews treatment options and strategies for individuals with Mnire's disease. Click here to view the abstract of this article. To obtain the complete article, the NLM Web site has a page for locating libraries in your area that can provide direct access to journals (print or online) or where you can get articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). Click on NLM Web site to access this page or go to the following link: http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.
Question: What is (are) Eosinophilic fasciitis ?
Answer: Eosinophilic fasciitis is a very rare condition in which muscle tissue underneath the skin, called fascia, becomes swollen and thick. Rapid swelling can occur in the hands, arms, legs, and feet. People with this condition have a buildup of eosinophils, a type of white blood cell, in the affected fascia and muscles. The exact cause of this condition is unknown. Corticosteroids and other immune-suppressing medications are used to relieve the symptoms. Eosinophilic fasciitis is similar in appearance to scleroderma but is not related.
Question: What are the symptoms of Eosinophilic fasciitis ?
Answer: What are the signs and symptoms of Eosinophilic fasciitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Eosinophilic fasciitis. 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) Acrocyanosis 90% Cellulitis 90% Hypermelanotic macule 90% Muscular edema 90% Myalgia 90% Arthralgia 50% Arthritis 50% Myositis 7.5% Paresthesia 7.5% Weight loss 7.5% Autosomal recessive inheritance - Eosinophilic fasciitis - 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.