bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of Congenital pulmonary lymphangiectasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital pulmonary lymphangiectasia. 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% Respiratory insufficiency 90% Abnormality of the pericardium 50% Chronic obstructive pulmonary disease 50% Congestive heart failure 50% Hydrops fetalis 50% Abnormality of the tricuspid valve 7.5% Hepatomegaly 7.5% Pulmonary hypertension 7.5% Splenomegaly 7.5% Autosomal recessive inheritance - Bronchodysplasia - Chylothorax - Chylous ascites - Depressed nasal bridge - Edema of the lower limbs - Flat face - Hypertelorism - Malar flattening - Mild postnatal growth retardation - Nonimmune hydrops fetalis - Palpebral edema - Pectus excavatum - Pleural effusion - Polyhydramnios - Pulmonary lymphangiectasia - Recurrent respiratory infections - Variable expressivity - Wide nasal bridge - 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.
Hidradenocarcinoma is a tumor caused by the abnormal growth of cells in a sweat gland.  It is a type of cancer that usually begins as a single spot (lesion) on the skin of the head or neck, but it has also been found on other parts of the body.  This type of tumor typically develops in older individuals (after age 40).  Each hidradenocarcinoma develops differently over time; some may stay the same size and others grow rapidly.  Sometimes it may spread into nearby tissues, or to more distant parts of the body in a process called metastasis.  It is not known why some hidradenocarcinomas progress rapidly while others remain stable.
How might hidradenocarcinoma be treated? Because hidradenocarcinoma is quite rare, there are no established guidelines for treatment.  Treatment is determined by the size and location of each particular cancer and the extent to which cancer cells may have spread to nearby lymph nodes or tissues.  Surgery is often the first step and aims to remove as much of the cancer as possible.  Both a traditional surgical technique, known as wide local excision, and the newer Mohs micrographic surgery have been used to remove hidradenocarcinomas.  Radiation therapy, performed by a doctor known as radiation oncologist, has been used after surgery in patients with hidradenocarcinoma to destroy any cancer cells that may remain at the original location of the tumor or in the lymph nodes.  Chemotherapy, performed by a doctor known as a medical oncologist, has not yet been proven as effective treatment for hidradenocarcinomas.
What are the signs and symptoms of STAR syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for STAR 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) Clinodactyly of the 5th finger 90% External ear malformation 90% Short stature 90% Toe syndactyly 90% Urogenital fistula 90% Abnormal localization of kidney 50% Abnormality of female internal genitalia 50% Abnormality of the cardiac septa 50% Female pseudohermaphroditism 50% Midline defect of the nose 50% Renal hypoplasia/aplasia 50% Renal insufficiency 50% Telecanthus 50% Thin vermilion border 50% Vesicoureteral reflux 50% Abnormality of the aortic valve 7.5% Abnormality of the macula 7.5% Abnormality of the pulmonary artery 7.5% Aplasia/Hypoplasia of the radius 7.5% Chorioretinal abnormality 7.5% Cleft eyelid 7.5% Mitral stenosis 7.5% Myopia 7.5% Seizures 7.5% Syringomyelia 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.
What are the signs and symptoms of Muscular fibrosis multifocal obstructed vessels? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular fibrosis multifocal obstructed vessels. 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) Arrhythmia 90% Cerebral calcification 90% Decreased antibody level in blood 90% Hepatomegaly 90% Limitation of joint mobility 90% Lipoatrophy 90% Skeletal muscle atrophy 90% Splenomegaly 90% Urticaria 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.
Encephaloceles are rare neural tube defects characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development. The result is a groove down the midline of the upper part of the skull, or the area between the forehead and nose, or the back of the skull. When located in the back of the skull, encephaloceles are often associated with neurological problems. Encephaloceles are usually dramatic deformities diagnosed immediately after birth; but occasionally a small encephalocele in the nasal and forehead region can go undetected. There is a genetic component to the condition; it often occurs in families with a history of spina bifida and anencephaly in other family members.
Granuloma annulare is a long-term (chronic) skin disease consisting of a rash with reddish bumps arranged in a circle or ring. The most commonly affected areas are the forearms, hands and feet. The lesions associated with granuloma annulare usually resolve without treatment. Strong steroids (applied as a cream or injection) are sometimes used to clear the rash more quickly. Most symptoms will disappear within 2 years (even without treatment), but recurrence is common. The underlying cause of granuloma annulare is unknown.
What causes granuloma annulare? The cause of granuloma annulare is unknown, although there is much evidence that it is linked to the immune system. It has been reported to follow insect bites; sun exposure; tuberculin skin tests, ingestion of allopurinol; trauma; and viral infections, including Epstein-Barr, HIV, hepatitis C, and herpes zoster. Occasionally, granuloma annulare may be associated with diabetes or thyroid disease.
How might granuloma annulare be treated? Granuloma annulare is difficult to treat and there are a limited number of clinical trials to reliably inform patients and physicians of the treatment options. Fortunately, most lesions of granuloma annulare disappear with no treatment within two years. Sometimes, however, the rings can remain for many years. Very strong topical steroid creams or ointments may be used to speed the disappearance of the lesions. Injections of steroids directly into the rings may also be effective. Some physicians may choose to freeze the lesions with liquid nitrogen. In severe cases, ultraviolet light therapy (PUVA) or oral medications may be needed. Other treatments that have been tried include :   Dapsone (a type of antibiotic) for widespread granuloma annulare  Isotretinoin  Etretinate (not available in the US)  Hydroxychloroquine  Chloroquine  Cyclosporine  Niacinamide  Oral psoralen  Vitamin E combined with a 5-lipoxygenase inhibitor  Fumaric acid esters  Topical tacrolimus  Pimecrolimus  Infliximab (in a patient with disseminated granuloma annulare that did not respond to other treatments) A review article titled, 'Diagnosis and Management of Granuloma Annulare' provides additional information on treatment options for granuloma annulare: http://www.aafp.org/afp/20061115/1729.html  Also, an article from Medscape Reference provides information on treatment for granuloma annulare at the following link. You may need to register to view the article, but registration is free. http://emedicine.medscape.com/article/1123031-overview
What symptoms are associated with cholesteatoma? Early symptoms may include drainage from the ear, sometimes with a foul odor. As the cholesteatoma cyst or sac enlarges, it can lead to a full feeling or pressure in the ear, hearing loss, dizziness and pain, numbness or muscle weakness on one side of the face. On examination, the ear drum (tympanic membrane) appears abnormal. In rare cases, a cholesteatoma may erode through the tegmen, allowing an epidural abscess to form which could lead to a more serious brain infection.
What causes cholesteatoma? A cholesteatoma usually occurs because of poor eustachian tube function in conjunction with infection in the middle ear. Negative pressure within the middle ear pulls a part of the eardrum the wrong way, creating a sac or cyst that fills with old skin cells and other waste material. As the cyst gets bigger, some of the middle ear bones break down, affecting hearing. A rare congenital form of cholesteatoma (one present at birth) can occur in the middle ear and elsewhere, such as in the nearby skull bones.
Succinic semialdehyde dehydrogenase (SSADH) deficiency is disorder that can cause a variety of neurological and neuromuscular problems. The signs and symptoms can be extremely variable among affected individuals and may include mild to severe intellectual disability; developmental delay (especially involving speech); hypotonia; difficulty coordinating movements (ataxia); and/or seizures. Some affected individuals may also have decreased reflexes (hyporeflexia); nystagmus; hyperactivity; and/or behavioral problems. SSADH deficiency is caused by mutations in the ALDH5A1 gene and is inherited in an autosomal recessive manner. Management is generally symptomatic and typically focuses on treating seizures and neurobehavioral issues.
What are the signs and symptoms of Succinic semialdehyde dehydrogenase deficiency? People with succinic semialdehyde dehydrogenase deficiency (SSADH) typically have developmental delay, especially involving speech development; intellectual disability; and decreased muscle tone (hypotonia) soon after birth. About half of those affected experience seizures, difficulty coordinating movements (ataxia), decreased reflexes, and behavioral problems. The most common behavioral problems associated with this condition are sleep disturbances, hyperactivity, difficulty maintaining attention, and anxiety. Less frequently, affected individuals may have increased aggression, hallucinations, obsessive-compulsive disorder (OCD), and self-injurious behavior, including biting and head banging. People with this condition can also have problems controlling eye movements. Less common features of SSADH include uncontrollable movements of the limbs (choreoathetosis), involuntary tensing of the muscles (dystonia), muscle twitches (myoclonus), and a progressive worsening of ataxia. The Human Phenotype Ontology provides the following list of signs and symptoms for Succinic semialdehyde dehydrogenase deficiency. 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) Cognitive impairment 90% Incoordination 90% Muscular hypotonia 90% Seizures 50% Abnormality of eye movement - Abnormality of metabolism/homeostasis - Absence seizures - Aggressive behavior - Anxiety - Ataxia - Autism - Autosomal recessive inheritance - Delayed speech and language development - EEG abnormality - Generalized myoclonic seizures - Generalized tonic-clonic seizures - Hallucinations - Hyperactivity - Hyperkinesis - Hyporeflexia - Infantile onset - Intellectual disability - Motor delay - Phenotypic variability - Psychosis - Self-injurious behavior - Status epilepticus - 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.
What causes succinic semialdehyde dehydrogenase deficiency? Succinic semialdehyde dehydrogenase deficiency (SSADH) is caused by mutations in the ALDH5A1 gene. This gene provides instructions for producing the succinic semialdehyde dehydrogenase enzyme which is involved in the breakdown of a chemical that transmits signals in the brain (neurotransmitter) called gamma-amino butyric acid (GABA). The primary role of GABA is to prevent the brain from being overloaded with too many signals. A shortage (deficiency) of succinic semialdehyde dehydrogenase leads to an increase in the amount of GABA and a related molecule called gamma-hydroxybutyrate (GHB) in the body, particularly the brain and spinal cord (central nervous system). It is unclear how an increase in GABA and GHB causes developmental delay, seizures, and other signs and symptoms of succinic semialdehyde dehydrogenase deficiency.
How is succinic semialdehyde dehydrogenase deficiency inherited? Succinic semialdehyde dehydrogenase deficiency (SSADH) is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
How is succinic semialdehyde dehydrogenase deficiency diagnosed? The diagnosis of succinic semialdehyde dehydrogenase (SSADH) deficiency is based upon a thorough clinical exam, the identification of features consistent with the condition, and a variety of specialized tests. SSADH deficiency may first be suspected in late infancy or early childhood in individuals who have encephalopathy, a state in which brain function or structure is altered. The encephalopathy may be characterized by cognitive impairment; language deficit; poor muscle tone (hypotonia); seizures; decreased reflexes (hyporeflexia); and/or difficulty coordinating movements (ataxia). The diagnosis may be further suspected if urine organic acid analysis (a test that provides information about the substances the body discards through the urine) shows the presence of 4-hydroxybutyric acid. The diagnosis can be confirmed by an enzyme test showing deficiency of SSADH, or by genetic testing. ALDH5A1 is the only gene currently known to be associated with SSADH deficiency, and genetic testing can detect mutations in about 97% of affected individuals.
How might succinic semialdehyde dehydrogenase deficiency be treated? Treatment of succinic semialdehyde dehydrogenase deficiency (SSADH) is generally symptomatic and typically focuses on the treatment of seizures and neurobehavioral disturbances. Antiepileptic drugs (AEDs) that have proven to be effective in treating the seizures associated with this condition include carbamazepine and lamotrigine (LTG). Medications such as methylphenidate, thioridazine, risperidal, fluoxetine, and benzodiazepines appear to be effective at treating anxiety, aggressiveness, inattention, and hallucinations. Additional treatments may include physical and occupational therapy, sensory integration, and/or speech therapy.
What are the signs and symptoms of Oculo-cerebral dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculo-cerebral 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) Aplasia/Hypoplasia affecting the eye 90% Dandy-Walker malformation 90% Optic atrophy 90% Abnormality of the palpebral fissures 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.
What are the signs and symptoms of Amish lethal microcephaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Amish lethal microcephaly. 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 of the cerebellum 90% Behavioral abnormality 90% Cognitive impairment 90% Microcephaly 90% Optic atrophy 90% Sloping forehead 90% Abnormality of neuronal migration 50% Aplasia/Hypoplasia of the corpus callosum 50% Hypertonia 50% Muscular hypotonia 50% Reduced bone mineral density 50% Spina bifida 50% Ventriculomegaly 50% Abnormality of the soft palate 7.5% Decreased skull ossification 7.5% Hepatomegaly 7.5% Limitation of joint mobility 7.5% Prenatal movement abnormality 7.5% Seizures 7.5% Autosomal recessive inheritance - Cerebellar hypoplasia - Congenital onset - Flexion contracture - Irritability - Lactic acidosis - Limb hypertonia - Muscular hypotonia of the trunk - Partial agenesis of the corpus callosum - Progressive microcephaly - 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.
Young syndrome is a condition whose signs and symptoms may be similar to those seen in cystic fibrosis, including bronchiectasis, sinusitis, and obstructive azoospermia (a condition in which sperm are produced but do not mix with the rest of the ejaculatory fluid due to a physical obstruction, resulting in nonexistent levels of sperm in semen) . The condition is usually diagnosed in middle-aged men who undergo evaluation for infertility. Although the exact cause has not been identified, it is believed to be a genetic condition. At this time, there is no known effective treatment or cure for Young syndrome.
What are the signs and symptoms of Young syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Young 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) Decreased fertility 90% Recurrent respiratory infections 90% Abnormality of the pancreas 50% Autosomal recessive inheritance - Azoospermia - Bronchiectasis - Congenital cystic adenomatoid malformation of the lung - Recurrent bronchitis - Recurrent sinopulmonary infections - 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.