Ahmed062646/NLP_Medora_Datasets huggingface dataset:
Question: How to diagnose Chronic hiccups ?
Answer: How are chronic hiccups diagnosed? A diagnosis of chronic hiccups is usually obvious based on symptoms. However, a complete physical exam with various laboratory tests and imaging studies (i.e. chest X-ray, CT scan, MRI scan, and/or fluoroscopy of the diaphragm) may be performed to determine the underlying cause. For more information about the workup and diagnosis of chronic hiccups, please click here.
Question: What are the treatments for Chronic hiccups ?
Answer: How might chronic hiccups be treated? Treatment for chronic hiccups often varies based on the underlying cause. In many cases, medications can be prescribed to treat chronic hiccups. These may include: Tranquilizers such as chlorpromazine and haloperidol Muscle relaxants Anticonvulsant agents including phenytoin, valproic acid, and carbamazepine Sedatives Pain medications Stimulants Rarely, medications may not be effective in the treatment of chronic hiccups. In these cases, surgery to temporarily or permanently block the phrenic nerve may be performed. The phrenic nerve controls the diaphragm.
Question: What is (are) Joubert syndrome ?
Answer: Joubert syndrome is disorder of abnormal brain development that may affect many parts of the body. It is characterized by the absence or underdevelopment of the cerebellar vermis (a part of the brain that controls balance and coordination) and a malformed brain stem (connection between the brain and spinal cord). This gives a characteristic appearance of a molar tooth sign on MRI. Signs and symptoms can vary but commonly include weak muscle tone (hypotonia); abnormal breathing patterns; abnormal eye movements; ataxia; distinctive facial features; and intellectual disability. Various other abnormalities may also be present. Joubert syndrome may be caused by mutations in any of many genes and is predominantly inherited in an autosomal recessive manner. Rarely it may be inherited in an X-linked recessive manner. Treatment is supportive and depends on the symptoms in each person.
Question: Is Joubert syndrome inherited ?
Answer: How is Joubert syndrome inherited? Joubert syndrome is predominantly 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. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier. In rare cases, when Joubert syndrome is caused by mutations in the OFD1 gene on the X chromosome, it is inherited in an X-linked recessive manner. X-linked recessive conditions usually occur in males, who only have one X chromosome (and one Y chromosome). Females have two X chromosomes, so if they have a mutation on one X chromosome, they still have a working copy of the gene on their other X chromosome and are typically unaffected. While females can have an X-linked recessive condition, it is very rare. If a mother is a carrier of an X-linked recessive condition and the father is not, the risk to children depends on each child's sex. Each male child has a 50% chance to be unaffected, and a 50% chance to be affected Each daughter has a 50% chance to be unaffected, and a 50% chance to be an unaffected carrier If a father has the condition and the mother is not a carrier, all sons will be unaffected, and all daughters will be unaffected carriers.
Question: What is (are) Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 ?
Answer: Blepharophimosis, ptosis and epicanthus inversus syndrome type 1 (BPES I) is a condition, present at birth, that mainly effects the development of the eyelids. People with this condition have narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), an upward fold of the skin of the lower eyelid near the inner corner of the eye (epicanthus inversus), and an increased distance between the inner corners of the eyes (telecanthus). Because of these eyelid malformations, the eyelids cannot open fully, and vision may be limited. Blepharophimosis syndrome type 1 also causes premature ovarian failure (POF). This condition is caused by mutations in the FOXL2 gene and is inherited in an autosomal dominant pattern.
Question: What are the treatments for Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 ?
Answer: How might Blepharophimosis syndrome type 1 be treated? Management of blepharophimosis syndrome type 1 requires the input of several specialists including a clinical geneticist, pediatric ophthalmologist, eye plastic (oculoplastic) surgeon, endocrinologist, reproductive endocrinologist, and gynecologist. Eyelid surgery should be discussed with an oculoplastic surgeon to decide on the method and timing that is best suited for the patient. Traditionally, surgical correction of the blepharophimosis, epicanthus inversus, and telecanthus (canthoplasty) is performed at ages three to five years, followed about a year later by ptosis correction (usually requiring a brow suspension procedure). If the epicanthal folds are small, a "Y-V canthoplasty" is traditionally used; if the epicanthal folds are severe, a "double Z-plasty" is used. Unpublished reports have indicated that advanced understanding of the lower eyelid position has allowed for more targeted surgery that results in a more natural appearance. For a general explanation of these procedures and to locate an eye-care professional visit the Foundation of the American Academy of Ophthalmology and the National Eye Institute websites. To locate a surgeon through the American Society of Ophthalmic Plastic & Reconstructive Surgery click here. Generally, premature ovarian failure (POF) is treated with hormone replacement therapy. There is no specific treatment for POF caused by blepharophimosis syndrome type 1. Hormone replacement therapy is generally estrogen and progesterone and sometimes also includes testosterone. Birth control pills are sometimes substituted for hormone replacement therapy. Although health care providers can suggest treatments for some of the symptoms of POF, currently there is no scientifically established treatment to restore fertility for women diagnosed with POF. Women with POF are encouraged to speak to a health care professional. If you wish to obtain more information and support, you can visit the International Premature Ovarian Failure Association.
Question: What is (are) Frontonasal dysplasia ?
Answer: Frontonasal dysplasia is a very rare disorder that is characterized by abnormalities affecting the head and facial (craniofacial) region. Major physical features may include widely spaced eyes (ocular hypertelorism); a flat, broad nose; and a widow's peak hairline. In some cases, the tip of the nose may be missing; in more severe cases, the nose may separate vertically into two parts. In addition, an abnormal skin-covered gap in the front of the head (anterior cranium occultum) may also be present in some cases. Other features may include a cleft lip, other eye abnormalities (coloboma, cataract, microphthalmia), hearing loss, and/or agenesis of the corpus callosum. The majority of affected individuals have normal intelligence. The exact cause of frontonasal dysplasia is not known. Most cases occur randomly, for no apparent reason (sporadically). However, some cases are thought to run in families. Researchers have suggested that this condition is caused by mutations in the ALX3 gene and is inherited in an autosomal recessive fashion.
Question: What are the symptoms of Frontonasal dysplasia ?
Answer: What are the signs and symptoms of Frontonasal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontonasal dysplasia. 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) Hypertelorism 90% Median cleft lip 50% Midline defect of the nose 50% Aplasia/Hypoplasia of the corpus callosum 7.5% Camptodactyly of finger 7.5% Choanal atresia 7.5% Cleft palate 7.5% Clinodactyly of the 5th finger 7.5% Cognitive impairment 7.5% Conductive hearing impairment 7.5% Craniosynostosis 7.5% Cryptorchidism 7.5% Encephalocele 7.5% Holoprosencephaly 7.5% Hydrocephalus 7.5% Low-set, posteriorly rotated ears 7.5% Preauricular skin tag 7.5% Short stature 7.5% Single transverse palmar crease 7.5% Webbed neck 7.5% 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) Oligoastrocytoma ?
Answer: Oligoastrocytoma is a brain tumor that forms when two types of cells in the brain, called oligodendrocytes and astrocytes, rapidly increase in number to form a mass. These brain cells are known as glial cells, which normally protect and support nerve cells in the brain. Because an oligoastrocytoma is made up of a combination of two cell types, it is known as a mixed glioma. Oligoastrocytomas usually occur in a part of the brain called the cerebrum and are diagnosed in adults between the ages of 30 and 50. The exact cause of this condition is unknown.
Question: What is (are) Hereditary lymphedema type II ?
Answer: Hereditary lymphedema type II is a primary lymphedema that results from abnormal transport of lymph fluid. Individuals with this condition usually develop swelling in the lower legs and feet during puberty. Some affected individuals develop a non-contagious skin infection called cellulitis, which can further damage the lymphatic vessels (the thin tubes that carry lymph fluid). While the cause of hereditary lymphedema type II is unknown, it is thought to be genetic because it tends to run in families. It appears to have an autosomal dominant pattern of inheritance.
Question: What are the symptoms of Hereditary lymphedema type II ?
Answer: What are the signs and symptoms of Hereditary lymphedema type II? Hereditary lymphedema type II is characterized by the abnormal transport of lymph fluid. This causes the lymph fluid to build up, causing swelling (lymphedema). Individuals with hereditary lymphedema type II usually develop swelling in the lower legs and feet during puberty. Some affected individuals develop a non-contagious skin infection called cellulitis, which can further damage the lymphatic vessels (the thin tubes that carry lymph fluid). The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary lymphedema type II. 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) Cleft palate 7.5% Yellow nails 7.5% Autosomal dominant inheritance - Hypoplasia of lymphatic vessels - Predominantly lower limb lymphedema - 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 Hereditary lymphedema type II ?
Answer: What causes hereditary lymphedema type II? The cause of hereditary lymphedema type II is unknown. The condition is thought to be genetic because it tends to run in families. Researchers have studied many genes associated with the lymphatic system; however, to date, no specific genetic change has been associated with this type of lymphedema.
Question: Is Hereditary lymphedema type II inherited ?
Answer: How is hereditary lymphedema type II inherited? Hereditary lymphedema type II appears to have an autosomal dominant pattern of inheritance, which means that one copy of an altered gene in each cell is sufficient to cause the disorder. People with hereditary lymphedema type II usually have at least one other affected family member, in most cases, a parent. When the condition occurs in only one person in a family, the condition is described as Meige-like lymphedema.
Question: What is (are) Amyotrophic lateral sclerosis ?
Answer: Amyotrophic lateral sclerosis (ALS), also referred to as "Lou Gehrig's disease," is a progressive motor neuron disease which leads to problems with muscle control and movement. There are various types of ALS, which are distinguished by their signs and symptoms and their cause. Early symptoms may include muscle twitching, cramping, stiffness, or weakness, eventually followed by slurred speech and difficulty chewing or swallowing (dysphagia). As the disease progresses, individuals become weaker are are eventually wheelchair-dependent. Death often results from respiratory failure within 2 to 10 years after the onset of symptoms. Most affected individuals have a sporadic (not inherited) form of ALS; about 5-10% have a familial (inherited) form of the condition. Familial ALS may caused by mutations in any one of several genes and the pattern of inheritance varies depending on the gene involved. Treatment is generally supportive.
Question: What are the symptoms of Amyotrophic lateral sclerosis ?
Answer: What are the signs and symptoms of Amyotrophic lateral sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotrophic lateral sclerosis. 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) Amyotrophic lateral sclerosis - Autosomal dominant inheritance - Autosomal recessive inheritance - Degeneration of anterior horn cells - Degeneration of the lateral corticospinal tracts - Fasciculations - Heterogeneous - Hyperreflexia - Muscle cramps - Muscle weakness - Pseudobulbar paralysis - Skeletal muscle atrophy - Sleep apnea - Spasticity - 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 Amyotrophic lateral sclerosis ?
Answer: What causes amyotrophic lateral sclerosis? In approximately 90-95% of cases the cause of amyotrophic lateral sclerosis (ALS) is unknown and is sporadic (occurring in individuals with no history of the condition in the family). The remaining 5-10% of cases are genetic (familial), often occurring in individuals with a family history of the condition. Mutations in any of several genes, including the C9orf72, SOD1, TARDBP, FUS, ANG, ALS2, SETX, and VAPB genes, can cause familial ALS and may contribute to the development of sporadic ALS. About 60% of individuals with familial ALS have an identifiable genetic mutation; the genetic cause in the remaining cases is unknown. The genes associated with ALS appear to play a role in how neurons function or are involved in regulating the production of various proteins. Over the years, various types of environmental exposures have been proposed as possible contributors to the cause of ALS, including mercury, manganese, products used in farming (fertilizers, insecticides, herbicides), and physical and dietary factors. Exposures have been suggested as a possible explanation for the increased incidence of ALS in Gulf War veterans. Further investigation is ongoing.
Question: How to diagnose Amyotrophic lateral sclerosis ?
Answer: Is genetic testing available for amyotrophic lateral sclerosis? Yes. Clinical genetic testing is currently available for several genes in which mutations are known to cause ALS. Genetic testing on a research basis is also available for select susceptibility genes associated with ALS. You can find laboratories offering clinical and research genetic testing for ALS on a Web site called GeneTests. To see GeneTests' list of the types of ALS for which genetic testing is available, click here. Click on "Testing" next to each type of ALS of interest to see a list of the laboratories that offer clinical testing. Click on "Research" next to each type of ALS of interest to see a list of the laboratories that offer research testing. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families. Therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Question: What is (are) Blastomycosis ?
Answer: Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body. The infection may affect the skin, bones and joints, and other areas. The disease usually affects people with weakened immune systems, such as those with HIV or who have had an organ transplant.
Question: What are the symptoms of XK aprosencephaly ?
Answer: What are the signs and symptoms of XK aprosencephaly? The Human Phenotype Ontology provides the following list of signs and symptoms for XK aprosencephaly. 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) Aplasia/Hypoplasia affecting the eye 90% Microcephaly 90% Narrow mouth 90% Abnormality of the gastrointestinal tract 50% Abnormality of the genital system 50% Abnormality of the pharynx 50% Absent nares 50% Aplasia/Hypoplasia of the radius 50% Atria septal defect 7.5% Hypotelorism 7.5% Polyhydramnios 7.5% Ventricular septal defect 7.5% Anencephaly - Aprosencephaly - Autosomal recessive inheritance - Oligodactyly (hands) - 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) Familial hypertrophic cardiomyopathy ?
Answer: Familial hypertrophic cardiomyopathy (HCM) is an inherited heart condition characterized by thickening of the heart muscle. The thickening most often occurs in the muscle wall that separates the left and right ventricles from each other (interventricular septum). This may restrict the flow of oxygen-rich blood from the heart, or it may lead to less efficient pumping of blood. Signs and symptoms can vary. While some people have no symptoms, others may have chest pain, shortness of breath, palpitations, lightheadedness, dizziness, and/or fainting. Even in the absence of symptoms, familial HCM can have serious consequences such as life-threatening arrhythmias, heart failure, and an increased risk of sudden death. Familial HCM may be caused by mutations in any of several genes and is typically inherited in an autosomal dominant manner. Treatment may depend on severity of symptoms and may include medications, surgical procedures, and/or an implantable cardioverter-defibrillator (ICD).
Question: What are the symptoms of Familial hypertrophic cardiomyopathy ?
Answer: What are the signs and symptoms of Familial hypertrophic cardiomyopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hypertrophic cardiomyopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Arrhythmia - Asymmetric septal hypertrophy - Autosomal dominant inheritance - Congestive heart failure - Subaortic stenosis - Sudden death - 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.