Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.6.1.1 (aspartate aminotransferase)
 21,665 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The association between macroamylasaemia and coeliac disease in Down syndrome with multiple autoimmune abnormalities has never been reported. A 40-year-old woman with a 15-year history of immunoglobulin A and immunoglobulin M hypergammaglobulinaemia, chronic diarrhoea, persistent mild aspartate aminotransferase (AST) elevation and anaemic syndrome was admitted to hospital because in the previous 3 months she had developed amenorrhoea, dizziness, alopecia, constipation, pallor and asthenia. Biochemical and immunological analyses showed macroamylasaemia. The patient presented clinical and intestinal histopathological features of coeliac disease. Immunological abnormalities included the presence of antigliadin, antiendomysium, antitransglutaminase, antinuclear, antismooth muscle and anti-SSA/Ro antibodies. Macroamylase resulted in a complex of amylase and immunoglobulin A. Later clinical follow-up of a gluten-free diet showed a transitory decrease in seric immunoglobulin A and macroamylase with persistent autoantibodies and AST elevation. An intestinal mucosal immune disorder could lead to coeliac disease and macroamylasaemia in a patient with Down syndrome presenting other immune alterations.
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PMID:Macroamylasaemia, IgA hypergammaglobulinaemia and autoimmunity in a patient with Down syndrome and coeliac disease. 1273 20

In view of the reversibility of steatosis and steatohepatitis, their early diagnosis is one of the most significant problems of modern medicine. The aim of the study was the establishment futures of the pathogenesis of NAFLD in postmenopausal women. The study was conducted on postmenopausal women (n=5), with metabolic syndrome and rate of ALT in the blood at least 4 times greater than its normal maximal value. Patients had to fulfill the following inclusion criteria: at least 12 month of amenorrhea. Verification of the diagnosis of NAFLD was based on abdominal ultrosonografic examination. In addition to collecting history, study of blood lipid profile and ALT, AST, estrogen content in patients enrolled in the study free nitric oxide content in the blood and liver bioptants was determined by Electron Paramagnetic Resonance (EPR) method. The study protocol approved by the Ethics Committee of the Tbilisi State Medical University. Patients by written form confirmed their agreement to participate in the study. In patients with NAFLD levels of total cholesterol, LDL-cholesterol and triglycerides were generally increased in the blood serum, direct correlation revealed between level of NO EPR signal intensity in liver bioptat and triglycerides content in blood (r=0,96; p=0,009). It was concluded that estrogen-dependent factors, such as impaired lipid metabolism and increase expression of iNOS induce accumulation of triglycerides and free fatty acids in the liver, generation excess amounts of NO, which in oxidative stress reveal their cytotoxity and promote progression of NAFLD in postmenopausal women.
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PMID:Some aspects of pathogenesis of nonalcoholic fatty liver disease in postmenopausal women. 2289 11