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)

Over a three-year-period, 310 babies with prolonged jaundice admitted to GHKL were studied, to determine the incidence of alpha-1-antitrypsin deficiency as a cause of the problem. Ninety-two babies (29.7%) were found to be alpha-1-antitrypsin deficient. The percentage incidence was found to be highest in Indians (33.3%), followed by Malays (31.9%) and Chinese (26.7%). There was a male preponderance with a M:F ratio of 1.6:1. Most of these babies presented at the hospital at the age of more than two weeks but less than one month. Apart from the problem of prolonged jaundice and alpha-1-antitrypsin deficiency, 2 had associated bleeding problems, 11 associated infections and 3 respiratory problems. Two babies had clinical features of Down's syndrome, 2 had G6PD deficiency and 1 had congenital hypothyroidism. AST, ALT and ALPO4 were high in 20, 26 and 3 babies respectively.
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PMID:Alpha-1-antitrypsin deficiency in babies with prolonged jaundice. 130 30

A 19-year-old male patient with Down's syndrome accompanied by relapsing and steroid-dependent chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) was reported. He had been well until the beginning of June 1988, and he rapidly developed a gait disturbance and symmetrical numbness in his arms and legs at the end of that month. He also suffered from difficulty in swallowing and dyspnea soon afterward. A physical examination revealed the specific clinical features of Down's syndrome, but no particular signs. Neurological examination showed the following abnormal findings; fixed nystagmus, diminished gag reflex, flaccid tetraparesis, and distal dominant dysesthesia of upper and lower extremities. Deep tendon reflexes were diminished and Babinski's sign was negative. No autonomic dysfunction was detected. Routine hematology and biochemistry screening test revealed normal level except for increasing GPT and IgG. Protein and gamma globulin values in cerebrospinal fluid (CSF) were elevated without pleocytosis. Nerve conduction velocities were slighty reduced. Pulse therapy and corticosteroid treatment improved on clinical course and CSF results. CIDP probably results from an abnormal immune responsiveness. Down's syndrome has often been taken for autoimmune abnormality. It is of great interest whether there is a close connection of autoimmune abnormality between Down's syndrome and CIDP. This might be the first case report of Down's syndrome associated with CIDP, judging from our survey of the literature in Japan and other countries.
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PMID:[A case of Down's syndrome with chronic inflammatory demyelinating polyradiculoneuropathy]. 215 Jul 92

Sera from 714 mentally retarded carriers of hepatitis B surface antigen were screened for alpha fetoprotein (AFP) by monoclonal radioimmunoassay. Serum AFP levels were less than 20 mcg/L in 708 (99.2%) carriers. One 29-year-old carrier with normal liver function had serum AFP level of 1500 mcg/L, which increased to 12,500 mcg/L after 72 days. She died of multifocal hepatocellular carcinoma (HCC) with cirrhosis. Five other carriers with serum AFP levels between 20 and 165 mcg/L are alive without clinical HCC. No correlation was found between serum AFP level and race, age, sex, Down's syndrome, serum alanine aminotransferase level, and hepatitis B e antigen positivity. Single cross-sectional serum AFP screening by itself is not sufficient for early diagnosis of HCC.
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PMID:Serum alpha fetoprotein in 714 mentally retarded carriers of hepatitis B surface antigen. 245 44

In 1,149 clients of an institution for the mentally retarded, the prevalences of hepatitis B surface antigen (HBsAg) and hepatitis B virus markers were 12 per cent and 66 per cent, respectively. HBsAg prevalence was higher in males, Down syndrome, ambulatory, and older clients, and those with longer institutionalization. Serum alanine aminotransferase levels were abnormal in 31 per cent of HBsAg positive and 10 per cent of HBsAg-negative clients.
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PMID:Epidemiology of hepatitis B infection in institutionalized mentally retarded clients. 294 Aug 79

A cross-sectional survey on the prevalence of hepatitis B serologic markers and hepatitis B virus DNA was performed in a population of 493 mentally handicapped males. Special interest was focused on age-related variables such as age at entry into the institution and on duration of residency. Furthermore, the differences with regard to the prevalence of hepatitis B markers found in Down's syndrome residents and other mentally retarded persons were analyzed. In a longitudinal study, the impact of the presence of hepatitis B virus DNA in serum was studied. Overall, 62.1 per cent of residents had serologic evidence of infection with hepatitis B virus, while 16.7 per cent of those residents with markers of infection were positive for hepatitis B surface antigen (HBsAg). Hepatitis B virus DNA was found in 24 per cent of HBsAg carriers (all positive for hepatitis B e antigen (HBeAg). In residents whose age at entry was less than 15 years, those with Down's syndrome were more often carriers of HBsAg than other mentally retarded residents. In addition, Down's syndrome residents more often had serum hepatitis B virus DNA compared with residents with other forms of mental retardation. A young age at entry was recognized as an important factor with regard to the prevalence of hepatitis B markers. From the longitudinal studies, it appeared that loss of hepatitis B virus DNA from serum indicated imminent loss of HBeAg and normalization of alanine aminotransferase values. Knowledge of the hepatitis B virus DNA status of HBsAg carriers in these institutions may therefore provide a valuable tool in attempts to reduce the transmission of this infection.
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PMID:Hepatitis B virus infection in an institution for the mentally retarded. 297 Jul 93

Conventional HBV serological markers, as well as serum alanine amino transferase and hepatitis B virus DNA (HBV DNA) were studied in a population of 667 institutionalized mentally handicapped males and females and in 676 staff members. The role of Down's syndrome (DS), sex and age-related factors with respect to the prevalence of these markers was analyzed. A young age at admission was found as one of the important factors in the development of the chronic HBsAg carrier state in females. The well-known higher prevalence of HBsAg carriership in DS patients appeared to be restricted to males. Markers indicative of viral replication, HBeAg and HBV DNA, were also more prevalent in male than in female DS residents, or OMR residents. These findings indicate that the phase of active viral replication is prolonged in male HBsAg carriers with DS. However, only 66.7 per cent of HBV DNA-positive and 26.2 per cent of HBsAg-positive residents had abnormal serum alanine aminotransferase (ALT) values. In addition, more than 50 per cent of residents with elevated serum alanine amino transferase values were negative for HBV serological markers. We conclude that male DS residents are the main source of HBV infection in institutions for the mentally handicapped and that determination of ALT values is not very useful in identifying those HBsAg carriers capable of transmission the infection.
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PMID:The prevalence of serological markers, hepatitis B virus DNA and elevated serum amino transferase values in institutionalized mentally handicapped males and females: an epidemiological study of HBV infection in residents with Down's syndrome or other forms of mental deficiency. 297 57

We found in two previous studies (Down syndrome patients and end-stage kidney patients receiving renal dialysis) that total serum iron is higher on average in carriers of the hepatitis B virus than in those who are not. The elevation of the serum iron is independent of elevations of serum L-alanine:2-oxoglutarate aminotransferase, EC 2.6.1.2) (SGPT), an indicator of liver cell damage. We have followed for 10 yr a large number of patients with end-stage renal disease receiving renal dialysis. In this paper we describe studies of serum iron and SGPT levels in patients (i) 1 mo before infection, (ii) after infection but within the month of infection, and (iii) 6-12 mo after infection. Comparisons of serum iron levels were made between those infected who retained the virus (carriers) and those who rejected the infection (transients). There were no differences between these groups before infection. Serum iron remained high in the carrier group and dropped in the transients. However, not all of the carriers retained high levels, although this was the case in general. Individual changes in the pre- and postconversion period were then considered. All carriers who had a preconversion decline in iron had an increase after infection, whereas this occurred in only some of the transients. Those carriers who had a decline after infection had raised levels before infection, and the decline was generally less than the increase. Consideration of the SGPT and the iron levels together led to the same conclusion as the previous studies, that elevation of iron may be independent of rise in SGPT. Several hypotheses were derived from these findings. Individuals who are carriers in general have higher iron levels and, therefore, are more likely to become infected with bacteria; this may contribute to increased morbidity and mortality. From experimental evidence, iron is required for the growth of tumor cells. Carriers with elevated iron levels may be more likely to develop detectable cancer of the liver than those who do not.
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PMID:Changes in serum iron levels due to infection with hepatitis B virus. 694 27

Objective. The aim of this paper is to describe a fatal case of hemophagocytic lymphohistiocytosis (HLH) in a patient with severe heart failure, who was treated with low-dose propranolol. Patient and Interventions. We report on a 7-month-old boy with Downs syndrome who was born with an unbalanced, left dominant atrioventricular septal defect and aortic coarctation. Despite coarctation repair and pulmonary artery banding he developed intractable heart failure and fever of unknown origin. Since he remained in heart failure he received a trial of low-dose propranolol to stabilize his cardiopulmonary status, which resulted in unexpected immunomodulatory effects. Measurements and Main Result. Immunoactivation was evidenced by high concentrations of procalcitonin, soluble CD 25, tumor necrosis factor alpha, and interleukin 6 and 8. Propranolol resulting in hepatic compromise as indicated by high lactate dehydrogenase and alanine aminotransferase levels. A therapeutic switch from propranolol to the beta(1)-receptor blocker metoprolol appeared to be instrumental in hemodynamic improvement and allowed discharge from hospital. However, the infant ultimately died from secondary inflammatory reactivation and intractable pulmonary obstructive disease. The autopsy results revealed HLH. Conclusion. Our case describes HLH secondary to heart failure and Downs syndrome. In this highly activated inflammatory state the beneficial hemodynamic effects of propranolol may be accompanied by immunomodulatory effects and the risk of acute liver failure. HLH occurs with a distinct pathophysiology, and specific treatment might be mandatory to increase the chance of survival.
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PMID:Beta-blocker therapy and hemophagocytic lymphohistiocytosis: a case report. 2063 35