[show abstract][hide abstract] ABSTRACT: We evaluated the clinical significance of serum N-terminal pro-brain natriuretic peptide (NT-proBNP) level in systemic sclerosis (SSc). We studied 45 SSc patients (30 with limited and 15 with diffuse cutaneous SSc) of mean age +/- SD 47.1 +/- 12.9 years, mean duration of disease 10.2 +/- 6.0 years, and 45 age- and sex-matched healthy controls. Pulmonary artery pressure was measured by echocardiography. Lung involvement was evaluated by pulmonary function testing and by using high-resolution computed tomography scores. Serum NT-proBNP levels were measured using a sandwich electrochemiluminescent immunoassay. Serum NT-proBNP levels were significantly higher in patients with SSc compared to healthy controls. When the patients were divided into clinical subsets, serum NT-proBNP was higher in diffuse SSc than in limited SSc. Serum NT-proBNP levels were found to be positively correlated with age, skin thickness score, and systolic pulmonary artery pressure and negatively correlated with percentage of carbon monoxide diffusion capacity (DLco). Multivariate analysis showed that serum NT-proBNP levels were positively correlated with age (p = 0.010), skin thickness score (p = 0.000), and blood pressure (p = 0.021) and negatively correlated with %DLco (p = 0.016). Fifty-seven percent of the variation in log (proBNP) can be explained by the multivariate model (R (2) = 0.57). Serum NT-proBNP levels were higher in SSc patients (particularly the diffuse subset) than in healthy controls and were found to be correlated with skin thickness and %DLco. We conclude that serum NT-proBNP may be a biologic marker of skin fibrosis and pulmonary vascular involvement in SSc.
[show abstract][hide abstract] ABSTRACT: Genetic variations of ethanol-metabolizing enzymes can affect alcohol drinking behavior. The aims of this study were to investigate and compare the distributions of these genetic polymorphisms between a healthy control group and a heavy drinker group which included an alcoholic liver cirrhosis group.
Genotypes of ADH2, ALDH2, CYP2E1, and catalase were identified by polymerase chain reaction and restriction fragment length polymorphism. Genomic DNA was extracted from peripheral leukocytes in 42 healthy controls, 12 heavy drinkers, and 30 alcoholic liver cirrhosis patients.
1) The genotype frequencies of ALDH2 (1*1), ADH2 (1*1), CYP2E1 (c1c1), and catalase1 (TT) were 69%, 55%, 38%, and 12%, respectively in healthy Korean males. 2) There was a significant difference in the distribution of the genetic polymorphism of ALDH2 between the control group and heavy drinker group (12 heavy drinkers and 30 alcoholic liver cirrhosis patients). The genotype frequency of ALDH2 mutant, ALDH2 (1*2) and ALDH2 (2*2) in the heavy drinker group (12%) was significantly lower than that in the control group (30%). 3) We didn't find anyone with ALDH2 homozygote mutant (DD) in the heavy drinker group. 4) There was no significant difference in the distribution of genetic polymorphisms in ADH2, CYP2E1 and catalase1 between the two groups.
These results suggest that the absence of ALDH2 mutant genotype is strongly related to heavy drinking behavior. We can not prove, however, any evidence that the polymorphisms of other ethanol-metabolizing enzymes are associated with the determination of alcohol-drinking behavior.
Taehan Kan Hakhoe chi = The Korean journal of hepatology 07/2003; 9(2):89-97.