Ahmed062646/NLP_Medora_Datasets huggingface dataset:
Question: What are the treatments for Pityriasis lichenoides ?
Answer: What treatment is available for pityriasis lichenoides? The different forms of treatment for pityriasis lichenoides that have been used range from natural sunlight exposure to chemotherapeutic agents. Treatment may not be necessary if the rash is not causing symptoms. When itching is severe, topical corticosteroids, tar preparations, and antihistamines may provide relief without changing the course of the disease. In adult patients, administration of methotrexate and oral tetracycline has led to good results; however, these medications are inappropriate for first-line treatment in young children. In addition to tetracycline, erythromycin is another antibiotic that is commonly used to treat pityriasis lichenoides. Sunlight is helpful, and excellent therapeutic responses to UVB phototherapy are documented. UVB therapy is more difficult in young children, and there is little data regarding the long-term risks of phototherapy in the pediatric population. It is difficult to interpret the results of formal therapy evaluations because of the frequency of spontaneous remissions.
Question: What is (are) Androgen insensitivity syndrome ?
Answer: Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have some physical traits of a woman. Androgen insensitivity syndrome is caused by mutations in the AR gene and is inherited in an X-linked recessive pattern.
Question: What is (are) Ascher Syndrome ?
Answer: Ascher syndrome is a rare condition characterized by a combination of episodic edemea or swelling of the eyelids (blepharochalasia), double lip, and nontoxic thyroid enlargement (goiter). The underlying cause of this condition is unknown. Most cases are sporadic, but familial cases suggestive of autosomal dominant inheritance have also been reported. The condition is often undiagnosed due to its rarity. Treatment may include surgical excision of the double lip and/or surgery for eyelid edema.
Question: What are the symptoms of Ascher Syndrome ?
Answer: What are the signs and symptoms of Ascher Syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ascher 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) Blepharophimosis 90% Goiter 50% Hypothyroidism 50% Ptosis 50% Visual impairment 50% Abnormality of the nose 7.5% Abnormality of the palate 7.5% Deviation of finger 7.5% Hypertelorism 7.5% Abnormality of the eye - Abnormality of the mouth - Autosomal dominant inheritance - Blepharochalasis - 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) Periventricular heterotopia ?
Answer: Periventricular heterotopia is a condition in which the nerve cells (neurons) do not migrate properly during the early development of the fetal brain from about the 6th week to the 24th week of pregnancy. Affected people typically develop recurrent seizures (epilepsy) beginning in mid-adolescence. Intelligence is generally normal; however, some affected people may have mild intellectual disability, including difficulty with reading and/or spelling. Less common signs and symptoms include microcephaly, developmental delay, recurrent infections, and blood vessel abnormalities. Some cases are caused by changes (mutations) in the FLNA gene and are inherited in an X-linked dominant manner. Others are caused by mutations in the ARFGEF2 gene and are inherited in an autosomal recessive manner. Rarely, periventricular heterotopia is associated with duplication of genetic material on chromosome 5. Treatment is generally focused on managing recurrent seizures with medications.
Question: What are the symptoms of Periventricular heterotopia ?
Answer: What are the signs and symptoms of periventricular nodular heterotopia? The condition is first noticed when seizures appear, often during the teenage years. The nodules around the ventricles are then typically discovered when magnetic resonance imaging (MRI) studies are done. Patients usually have normal intelligence, although some have mild intellectual disability. Difficulty with reading and spelling (dyslexia) has been reported in some girls with periventricular heterotopia. Less commonly, individuals with periventricular heterotopia may have more severe brain malformations, small head size (microcephaly), developmental delays, recurrent infections, blood vessel abnormalities, or other problems. In the X-linked form of periventricular nodular heterotopia, affected patients are mostly females because in males the symptoms are too serious and they die before birth. The following clinical features have been reported: seizure disorder, mental problems, heart anomalies, stomach immobility, strabismus, short fingers and dyslexia. Periventricular heterotopia may also occur in association with other conditions such as Ehlers-Danlos syndrome (Ehlers-Danlos with periventricular heterotopia) which results in extremely flexible joints, skin that stretches easily, and fragile blood vessels. In the autosomal recessive form of periventricular heterotopia the disorder is severe and may include microcephaly, severe developmental delay, and seizures beginning in infancy. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show any signs or symptoms of this condition.
Question: How to diagnose Periventricular heterotopia ?
Answer: What are the recommended evaluations for patients diagnosed with periventricular nodular heterotopia? The following evaluations are recommended:[1823] Imaging exams of the brain to establish the diagnosis Evaluation by a neurologist Evaluation by a doctor specialized in epilepsy if seizures are present Psychiatric evaluation if necessary Magnetic resonance angiography (MRA) of the brain vessels, carotid arteries, and aorta because of the risk for stroke Evaluation by a cardiologist and either echocardiogram or a heart magnetic resonance imaging (MRI) because of the risk for aortic aneurysm Evaluation by a hematologist if findings suggest a bleeding diathesis.
Question: What are the treatments for Periventricular heterotopia ?
Answer: How might periventricular nodular heterotopia be treated? Treatment of epilepsy generally follows principles for a seizure disorder caused by a known structural brain abnormality; carbamezipine is most often used, because most patients have focal seizures. However, antiepileptic drugs may be selected based on side effects, tolerability, and efficacy. It is recommended that patients with the X-linked form of the disease have studies evaluating the carotid artery and an abdominal ultrasound because of the risk for aortic or carotid dissection or other vascular anomalies.[1823] Treatment also include surgery for removal of the lesion and more recently, laser ablation guided with magnetic resonance.
Question: What are the symptoms of Epidermolysis bullosa simplex, localized ?
Answer: What are the signs and symptoms of Epidermolysis bullosa simplex, localized? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa simplex, localized. 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 blistering of the skin 90% Bruising susceptibility 90% Hyperhidrosis 50% Hyperkeratosis 5% Milia 5% Autosomal dominant inheritance - Palmoplantar blistering - 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 Synovial chondromatosis, familial with dwarfism ?
Answer: What are the signs and symptoms of Synovial chondromatosis, familial with dwarfism? The Human Phenotype Ontology provides the following list of signs and symptoms for Synovial chondromatosis, familial with dwarfism. 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) Arthralgia - Autosomal dominant inheritance - Severe short stature - 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 Gordon syndrome inherited ?
Answer: How is Gordon syndrome inherited? While some reports suggest Gordon syndrome may be inherited in an X-linked dominant manner, most agree that it is inherited in an autosomal dominant manner with reduced expressivity and incomplete penetrance in females. In autosomal dominant inheritance, having only one mutated copy of the disease-causing gene in each cell is sufficient to cause signs and symptoms of the condition. When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene. If a condition shows variable or reduced expressivity, it means that there can be a range in the nature and severity of signs and symptoms among affected individuals. Incomplete penetrance means that a portion of the individuals who carry the mutated copy of the disease-causing gene will not have any features of the condition.
Question: What are the symptoms of Torsion dystonia with onset in infancy ?
Answer: What are the signs and symptoms of Torsion dystonia with onset in infancy? The Human Phenotype Ontology provides the following list of signs and symptoms for Torsion dystonia with onset in infancy. 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 - Infantile onset - Torsion dystonia - 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) Patulous Eustachian Tube ?
Answer: Patulous eustachian tube is a benign condition in which the eustachian tube stays open most of the time. The eustachian tube is the tube that runs between the middle ear and throat and regulates the ear pressure around the ear drum. Under normal circumstances, it remains closed most of the time, opening only on occasion to equalize air pressure between the middle ear and the exterior environment. Major symptoms include distorted autophony (hearing one's own voice or breathing), echoing which may interfere with speech production, wave-like sounds, and a sensation of fullness in the ear. In severe cases, vertigo and hearing loss may occur. Over time, individuals with patulous eustachian tube may develop serious and even extreme responses to the abnormal sounds and other findings. In most cases, the cause of patulous eustachian tube is unknown. Weight loss and pregnancy may be predisposing factors. Neurologic disorders that cause muscle atrophy such as stroke, multiple sclerosis, and motor neuron disease have been implicated in some cases of patulous eustachian tube. Other cases may be associated with medications such as oral contraceptives or diuretics. Other predisposing factors include fatigue, stress, anxiety, exercise, and temporomandibular joint syndrome.
Question: What are the treatments for Patulous Eustachian Tube ?
Answer: How might patulous eustacian tube be treated? While no standard treatment has been found to work for every patient, there are several options that have been used to successfully manage the symptoms in a number of cases. Patients are often advised to recline or lower the head between the knees when symptoms occur. They may also be advised to avoid diuretics and/or increase weight. Medications which have been shown to work in some patients include nasal sprays containing anticholinergics, estrogen, diluted hydrochloric acid, chlorobutanol, or benzyl alcohol. Surgical treatment may be indicated in some cases. Information detailing treatment options can be accessed through Medscape Reference.
Question: What is (are) Type 1 plasminogen deficiency ?
Answer: Type 1 plasminogen deficiency is a genetic condition associated with chronic lesions in the pseudomembrane (tough, thick material) of the mucosa of the eye, mouth, nasopharynx, trachea, and female genital tract; decreased serum plasminogen activity; and decreased plasminogen antigen level. The lesions may be triggered by local injury and/or infection and often recur after removal of the lesion; they are caused by the deposition of fibrin (a protein involved in blood clotting) and by inflammation. The most common clinical finding is ligenous ('wood-like') conjunctivitis, a condition marked by redness and subsequent formation of pseudomembranes of part of the eye that progresses to white, yellow-white or red thick masses with a wood-like consistency that replace the normal mucosa. Hydrocephalus may be present at birth in a small number of individuals.
Question: What causes Type 1 plasminogen deficiency ?
Answer: What causes plasminogen deficiency, type 1? Plasminogen deficiency, type 1 is caused by a mutation in a gene encoding plasminogen, an enzyme whose function is to dissolve fibrin clots. Fibrin clots form scabs at a wound site.
Question: Is Type 1 plasminogen deficiency inherited ?
Answer: Is plasminogen deficiency, type 1 inherited? If so, in what manner? Plasminogen deficiency, type 1 is inherited in an autosomal recessive fashion, which means that an individual must inherit two disease-causing mutated copies of the plasminogen gene in order to have the condition and exhibit symptoms.
Question: What are the treatments for Type 1 plasminogen deficiency ?
Answer: How might type 1 plasminogen deficiency be treated? The treatment options available for type 1 plasminogen deficiency are few. However, some researchers have shown that the ligneous lesions can be reversed by plasminogen infusion, with changes occurring within 3 days and restored to normal after 2 weeks of treatment. Recurrence has been prevented by daily injections with plasminogen sufficient to achieve plasma concentrations to approximately 40% of the normal amount of plasminogen. Treatment with topical plasminogen has also been successful and resulted in dramatic improvement and complete resolution of the membranes. In some women, treatment with oral contraceptives have resulted in an increase in the levels of plasminogen and some resolution of the pseudomembrane.
Question: What is (are) D-2-alpha hydroxyglutaric aciduria ?
Answer: D-2-alpha hydroxyglutaric aciduria is an inherited metabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition include developmental delay, seizures, hypotonia, and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. D-2-alpha hydroxyglutaric aciduria is caused by changes (mutations) in the D2HGDH gene and is inherited in an autosomal recessive manner. Treatment is focused on alleviating the signs and symptoms of the condition, such as medications to control seizures.
Question: What are the symptoms of Brugada syndrome 4 ?
Answer: What are the signs and symptoms of Brugada syndrome 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Brugada syndrome 4. 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 - Shortened QT interval - Syncope - 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) Chiari malformation ?
Answer: Chiari malformations are structural defects in the cerebellum, the part of the brain that controls balance. When the indented bony space at the lower rear of the skull is smaller than normal, the cerebellum and brainstem can be pushed downward. The resulting pressure on the cerebellum can block the flow of cerebrospinal fluid (the liquid that surrounds and protects the brain and spinal cord) and can cause a range of symptoms including dizziness, muscle weakness, numbness, vision problems, headache, and problems with balance and coordination. Treatment may require surgery. Many patients with the more severe types of Chiari malformations who undergo surgery see a reduction in their symptoms and/or prolonged periods of relative stability, however paralysis is generally permanent despite surgery. There are four types of Chiari malformations. The types tend to correspond with the degree of severity, with type 1 being the most common and least severe. Some people with type 1 have no symptoms and do not require treatment. Chiari malformation type 1 Chiari malformation type 2 Chiari malformation type 3 Chiari malformation type 4
Question: What are the symptoms of Chiari malformation ?
Answer: What are the signs and symptoms of Chiari malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation. 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) Areflexia of upper limbs - Arnold-Chiari type I malformation - Autosomal dominant inheritance - Babinski sign - Basilar impression - Diplopia - Dysarthria - Dysphagia - Gait ataxia - Headache - Hearing impairment - Hyperacusis - Limb muscle weakness - Lower limb hyperreflexia - Lower limb spasticity - Nystagmus - Paresthesia - Photophobia - Scoliosis - Small flat posterior fossa - Syringomyelia - Tinnitus - Unsteady gait - Urinary incontinence - Vertigo - 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.