bowang0911/MedQuAD huggingface dataset:
Clear cell renal cell carcinoma is a cancer of the kidney.  The name "clear cell" refers to the appearance of the cancer cells when viewed with a microscope.[5258]  Clear cell renal cell carcinoma occurs when cells in the kidney quickly increase in number, creating a lump (mass).  Though the exact cause of clear cell renal cell carcinoma is unknown, smoking, the excessive use of certain medications, and several genetic predisposition conditions (such as von Hippel Lindau syndrome) may contribute to the development of this type of cancer.  Treatment often begins with surgery to remove as much of the cancer as possible, and may be followed by radiation therapy, chemotherapy, biological therapy, or targeted therapy.
What treatments for metastatic clear cell renal cell carcinoma are available in North America? There are several treatments for metastatic clear cell renal cell carcinoma available in North America.  IL-2 and sunitinib - as well as the medications temsirolimus, bevacizumab with interferon therapy, pazopanib, and sorafenib - are approved by the Food and Drug Administration for the treatment of metastatic clear cell renal cell carcinoma.  Because a cure for this disease has yet to be discovered, the National Cancer Institute suggests that individuals with metastatic clear cell renal cell carcinoma consider participation in a research study. IL-2 is offered as a treatment for this disease in some individuals because it has been shown to cause a complete disappearance of signs of this disease (remission) in 5% of treated patients.  As IL-2 may cause toxic side effects, it is most appropriate for patients who are in excellent health.  Sunitinib is offered because it has been shown to stabilize metastatic clear cell renal cell carcinoma by stopping the disease from getting worse.  Individuals treated with sunitinib showed no change in their disease for an average of 11 months.
Cat scratch disease is an infectious illness caused by the bacteria bartonella. It is believed to be transmitted by cat scratches, bites, or exposure to cat saliva. This self-limiting infectious disease is characterized by a bump or blister at the site of the bite or scratch and swelling and pain in the lymph nodes. Other features may include fatigue, headache, achiness, and fever. Although cat-scratch disease usually subsides without treatment, antibiotic and/or antimicrobial therapy may help speed recovery.
What are the symptoms of cat scratch disease? Most people with cat scratch disease have been bitten or scratched by a cat and developed a mild infection at the point of injury. Lymph nodes, especially those around the head, neck, and upper limbs, become swollen. Additionally, a person with cat scratch disease may experience fever, headache, fatigue, achiness and discomfort (malaise), sore throat, enlarged spleen, and/or loss of appetite.
What are the signs and symptoms of Annular pancreas? The Human Phenotype Ontology provides the following list of signs and symptoms for Annular pancreas. 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 pancreas 90% Duodenal stenosis 90% Abnormality of the gastric mucosa 50% Annular pancreas - Autosomal dominant inheritance - High intestinal obstruction - 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 Osteoglophonic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteoglophonic 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) Abnormal form of the vertebral bodies 90% Craniosynostosis 90% Hypertelorism 90% Reduced number of teeth 90% Short stature 90% Abnormality of the clavicle 50% Abnormality of the pinna 50% Anteverted nares 50% Delayed skeletal maturation 50% Limb undergrowth 50% Abnormality of bone mineral density 7.5% Brachydactyly syndrome 7.5% Choanal atresia 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Hernia of the abdominal wall 7.5% Scoliosis 7.5% Abnormality of the nasopharynx - Autosomal dominant inheritance - Bowing of the long bones - Broad foot - Broad metacarpals - Broad metatarsal - Broad palm - Broad phalanx - Chordee - Cloverleaf skull - Delayed speech and language development - Depressed nasal bridge - Failure to thrive - Frontal bossing - High palate - Hypoplasia of midface - Hypoplastic scapulae - Hypoplastic toenails - Hypospadias - Increased susceptibility to fractures - Inguinal hernia - Long philtrum - Low-set ears - Malar flattening - Mandibular prognathia - Nasal obstruction - Platyspondyly - Pseudoarthrosis - Respiratory distress - Rhizomelia - Shallow orbits - Short foot - Short metacarpal - Short metatarsal - Short neck - Short nose - Short palm - Short phalanx of finger - Unerupted tooth - 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.
Congenital chloride diarrhea is a condition characterized by large, watery stools containing an excess of chloride. Individuals have intrauterine (pre-birth) and lifelong diarrhea; infants with the condition are often premature. The excessive diarrhea causes electrolyte and water deficits, which in turn cause volume depletion, hyperreninemia (elevated levels of renin in the blood), hyperaldosteronism, renal potassium wasting, and sometimes nephropathy. Mutations in the SLC26A3 gene have been found to cause the condition. It is inherited in an autosomal recessive manner. Treatment generally focuses on the individual symptoms of the condition and typically includes taking oral supplements of sodium and potassium chloride.
What are the signs and symptoms of Congenital chloride diarrhea? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital chloride diarrhea. 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) Abdominal distention - Abnormality of the cardiovascular system - Autosomal recessive inheritance - Dehydration - Diarrhea - Failure to thrive - Growth delay - Hyperactive renin-angiotensin system - Hyperaldosteronism - Hypochloremia - Hypokalemia - Hyponatremia - Metabolic alkalosis - Polyhydramnios - Premature birth - 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.
How might congenital chloride diarrhea be treated? There is no cure for the underlying condition, so treatment mainly focuses on the symptoms. Studies have shown that early diagnosis and aggressive salt replacement therapy (replacing sodium and chloride, the 2 things that make up salt) are associated with normal growth and development, in addition to reduced mortality rates. In individuals with this condition, the goal is for the oral intake of chloride, sodium, and potassium to be greater than the amount lost through the feces (i.e., there must be a positive gastrointestinal balance) so that losses in sweat can be replaced. Replacement therapy with NaCl (sodium chloride) and KCl (potassium chloride) has been shown to be effective in children. One study showed that a medication called omeprazole, a proton-pump inhibitor, reduces electrolyte losses in individuals and thus promotes a positive gastrointestinal balance. However, this treatment does not reduce the need for careful monitoring of dietary intake, electrolyte concentrations, and urinary chloride loss. Another study discussed how butyrate could be effective in treating the condition, and that it is easily administered, useful in preventing severe dehydration episodes, and may be a promising approach for a long-term treatment.
What are the signs and symptoms of Morquio syndrome B? The Human Phenotype Ontology provides the following list of signs and symptoms for Morquio syndrome B. 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) Aortic valve stenosis - Autosomal recessive inheritance - Carious teeth - Cervical myelopathy - Cervical subluxation - Coarse facial features - Constricted iliac wings - Coxa valga - Decreased beta-galactosidase activity - Disproportionate short-trunk short stature - Epiphyseal deformities of tubular bones - Flaring of rib cage - Genu valgum - Grayish enamel - Hearing impairment - Hepatomegaly - Hyperlordosis - Hypoplasia of the odontoid process - Inguinal hernia - Intimal thickening in the coronary arteries - Joint laxity - Juvenile onset - Keratan sulfate excretion in urine - Kyphosis - Mandibular prognathia - Metaphyseal widening - Opacification of the corneal stroma - Osteoporosis - Ovoid vertebral bodies - Platyspondyly - Pointed proximal second through fifth metacarpals - Prominent sternum - Recurrent upper respiratory tract infections - Restrictive lung disease - Scoliosis - Ulnar deviation of the wrist - Wide mouth - Widely spaced teeth - 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.
Tetrahydrobiopterin (BH4) deficiency is a neurological condition caused by an inborn error of metabolism. BH4 is a substance in the body that enhances the action of other enzymes. Deficiency of BH4 leads to abnormally high blood levels of the amino acid phenylalanine, and low levels of certain neurotransmitters. Signs and symptoms can range from very mild to severe. Affected newborns appear normal at birth, but may begin to experience neurological symptoms such as abnormal muscle tone; poor sucking and coordination; seizures; and delayed motor development. Without early, appropriate treatment, the condition can cause permanent intellectual disability and even death. BH4 deficiency is caused by mutations in any one of several genes including the GCH1, PCBD1, PTS, and QDPR genes. It is inherited in an autosomal recessive manner.Treatment depends on the genetic cause and severity, and may include a low phenylalanine diet; oral BH4 supplementation; and neurotransmitter replacement.
What are the signs and symptoms of Tetrahydrobiopterin deficiency? Infants with tetrahydrobiopterin (BH4) deficiency typically appear normal and healthy at birth. Neurological signs and symptoms usually become apparent over time, and can range from mild to severe. These may include abnormal muscle tone; poor sucking and coordination; seizures; and delayed motor development. Other manifestations may include decreased spontaneous movements and difficulty swallowing. Without early and appropriate treatment, signs and symptoms progress and affected individuals may experience irreversible intellectual disability, behavioral problems, an inability to control body temperature, and even death in severe cases. The Human Phenotype Ontology provides the following list of signs and symptoms for Tetrahydrobiopterin 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% Microcephaly 90% Abnormality of eye movement - Ataxia - Autosomal recessive inheritance - Bradykinesia - Cerebral calcification - Choreoathetosis - Dysphagia - Dystonia - Episodic fever - Excessive salivation - Hyperkinesis - Hyperphenylalaninemia - Hyperreflexia - Hypertonia - Infantile onset - Intellectual disability - Intellectual disability, progressive - Irritability - Lethargy - Limb hypertonia - Motor delay - Muscular hypotonia - Muscular hypotonia of the trunk - Myoclonus - Parkinsonism - Poor suck - Progressive neurologic deterioration - Rigidity - Seizures - Severe muscular hypotonia - Small for gestational age - Somnolence - Transient hyperphenylalaninemia - Tremor - Variable expressivity - 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 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase 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) Autosomal recessive inheritance - Congenital adrenal hyperplasia - Increased circulating ACTH level - 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.
Stiff person syndrome (SPS) is a rare neurological disorder with features of an autoimmune disease. Symptoms may include muscle stiffness in the trunk and limbs, and heightened sensitivity to noise, touch, and emotional distress, which can set off muscle spasms. Affected people may also have abnormal postures, such as being hunched over. SPS affects twice as many women as men. It is frequently associated with other autoimmune diseases such as diabetes, thyroiditis, vitiligo, and pernicious anemia. The exact causes of SPS is not known. Treatment may involve high-dose diazepam, anti-convulsants, or intravenous immunoglobulin (IVIG).
What are the signs and symptoms of Stiff person syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Stiff person 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) Adult onset - Agoraphobia - Anemia - Anxiety - Asymmetric limb muscle stiffness - Autoimmunity - Axial muscle stiffness - Depression - Exaggerated startle response - Fever - Frequent falls - Hyperhidrosis - Hyperreflexia - Hypertension - Lumbar hyperlordosis - Myoclonic spasms - Opisthotonus - Proximal limb muscle stiffness - Rigidity - Sporadic - Tachycardia - Vitiligo - 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 stiff person syndrome? Scientists dont yet understand what causes stiff person syndrome, but research indicates that it is the result of an abnormal autoimmune response in the brain and spinal cord. Most people with stiff person syndrome have antibodies to glutamic acid decarboxylase (GAD), a protein in some nerve cells involved in making a substance called gamma-aminobutyric acid (GABA) that helps to control muscle movement. The symptoms of stiff person syndrome may develop when the immune system mistakenly attacks the neurons that produce GAD, leading to a deficiency of this protein in the body. The exact role that deficiency of GAD plays in the development of stiff person syndrome is not fully understood.
Is genetic testing available for stiff person syndrome? Genetic testing is not available for stiff person syndrome, as the underlying genetic cause (if any) has not yet been established. How is stiff person syndrome diagnosed? A diagnosis of stiff person syndrome (SPS) is typically made based on the presence of the characteristic symptoms, a detailed medical history, a thorough clinical exam, and various tests. Specific tests are used to support or confirm the diagnosis, and to rule out conditions with overlapping symptoms. These tests may include screening tests to detect antibodies against glutamic acid decarboxylase (GAD) and amphiphysin, and an electromyography (EMG) which records electrical activity in skeletal muscles. About 60% to 80% of affected people have autoantibodies against GAD. Although the absence of GAD antibodies does not rule out SPS, the presence of high levels of GAD antibodies in appropriate people strongly supports the diagnosis. An EMG typically shows continuous motor activity, which is characteristic of SPS. Very high levels of GAD antibodies and characteristic EMG findings will confirm the diagnosis in the majority of people with SPS. Additional laboratory testing may also be used to support a diagnosis of SPS, such as hemoglobin A1C (due to association with diabetes mellitus); complete blood count (due to association with pernicious anemia); comprehensive metabolic profile; and thyroid-stimulating hormone (due to association with thyroiditis). Lumbar puncture should be obtained in people with symptoms consistent with SPS to rule out other causes. Oligoclonal bands can be seen in about two thirds of affected people who are antibody-positive.
How might stiff person syndrome be treated? Treatment of stiff person syndrome (SPS) focuses on the specific symptoms present in each person. Benzodiazepines may be used to treat muscle stiffness and episodic spasms; baclofen may be used in addition to benzodiazepines. Anti-seizure drugs have reportedly been effective for some people. More recently, studies have shown that intravenous immunoglobulin (IVIG) is effective in improving many of the symptoms of SPS. Research involving additional treatment options for SPS is ongoing. Additional information about the treatment of stiff person syndrome can be viewed on Medscape Reference's Web site.
Dextrocardia is a condition in which the heart is located in the right side of the chest instead of the left. It is usually present from birth (congenital). There are several types of dextrocardia.  The simplest type occurs when the shape and structure of the heart is a mirror image of a normal heart.  Other types of dextrocardia may involve defects of the walls of the heart, nearby blood vessels, or other organs in the abdomen. Chest X-raxys and echocardiograms can be used to determine which type of dextrocardia is present.