Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.6.1.2 (alanine aminotransferase)
 26,722 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Transfusion transmitted viruses (TTV) were investigated in cardiac surgery cases who were previously transfused with blood and/or blood products and were suspected of having posttransfusion hepatitis (PTH) based on the results of physical examination, clinical findings, biochemical blood test results and in a smaller number, on radiological results. They were identified as having non-A-C hepatitis based on serological or molecular test methods. In this study, out of 90 cases suspected for PTH and non-A-C, 78 (86.7%) were male, 12 (13.3%) were female and their ages were between 17 and 67. Ninety healthy blood donors, who donated blood for the first time and had never had a transfusion, were selected as the control group. They had alanine aminotransferase (ALT) levels < 40 U, were seronegative for hepatitis B virus (HBV) and hepatitis C virus (HCV). Seventy-seven were immune, and 13 were seronegative for hepatitis A virus (HAV). In this study, TTV-deoxyribonucleic acid (DNA) investigation was performed by the polymerase chain reaction (PCR) method suggested by Takahashi et al. with 5' GCT ACG TCA CTA ACC ACG TG 3' (T801) and 5' CTG CGG TGT GTA AAC TCA CC 3' (T935) primers. TTV-DNA was found to be positive in 21 (23.3%) of the patient group and 4 (4.4%) of the control group (p < 0.05). In the patients determined to be TTV-DNA positive, the admission time following transfusion was a minimum of 3, and a maximum of 15 (average 7) weeks. The average ALT levels detected at the time of admission did not show a difference between TTV-DNA positive and negative cases (p > 0.05). However the ALT levels had a tendency to rise and reached their highest level nine weeks after transfusion in the TTV-DNA positive cases, although in two cases the ALT levels decreased to normal value after the 13th week. During the 24 month follow up of the TTV-DNA positives all cases except one were positive at the end of this period. The results of this study are the same as those reported in the literature suggesting that TTV-DNA, excluding the main viral agents which are known to cause PTH, can be determined in transfused PTH or non-transfused asymptomatic patients in varying ratios. In order to define the epidemiological properties and hepatic-extrahepatic pathologies more clearly we have looked for evidence of the viral agent, which probably contaminates both by transfusion and non-transfusion routes. It is suggested that, in addition to the case groups in this study, new clinical studies are necessary including transfused but non-PTH patients.
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PMID:Investigation of transfusion transmitted viruses in cases clinically suspected of posttransfusion hepatitis with undetermined ethiology. 1212

A girl, aged 8 years, developed jaundice and liver dysfunction in the neonatal period, with congenital glaucoma diagnosed on day 5 after birth, hypertension and unusual facies (broad forehead, hypertelorism and deep-set eyes). Cholestasis was the main type of liver dysfunction. Cardiac macrovascular CTA showed stenosis at the abdominal aorta and the beginning of the bilateral renal arteries. Whole exon sequencing revealed a heterozygous frameshift mutation, c.1485delC (absence of cytosine), in exon 12 of the JAG1gene. The girl was diagnosed with Alagille syndrome and was given transaminase-lowering, cholagogic and antihypertensive treatment with multiple drugs. There were significant reductions in serum levels of alanine aminotransferase, aspartate aminotransferase and total bile acid, but blood pressure fluctuated between 102-140 mm Hg/53-89 mm Hg. After renal artery angiography and balloon dilatation angioplasty, the girl was given oral administration of antihypertensive drugs, and blood pressure was controlled at a level of 110-120 mm Hg/60-80 mm Hg. The rare disease Alagille syndrome should be considered when a child has refractory hypertension with the involvement of multiple systems, especially liver dysfunction with cholestasis as the main manifestation. Genetic causes should be analyzed for a early diagnosis.
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PMID:[Liver dysfunction for 8 years with hypertension for 1 week in an 8-year-old girl]. 3090 55