This population-based study on parkinsonism in a genetically isolated community from a rural area of Turkey aimed to provide a selective evaluation of environmental and heritable risk factors. An increased prevalence of parkinsonism (4.1%) was detected in the village of Kizilcaboluk for people 65 years of age and older. This study included 36 patients with parkinsonism living in Kizilcaboluk and three times that number of age- and sex-matched people serving as controls. A questionnaire including demographic data, family history, education, occupation, data on exposures to pesticides, smoking, alcohol intake, and head trauma was administered. We found a significant association of parkinsonism cases with a positive family history in first-degree relatives (odds ratio [OR], 7.48; 95% confidence interval [CI], 2.52-22.17; P < 0.0001) and with pesticide exposure (OR, 2.96; 95% CI, 1.31-6.69; P = 0.015) compared to the control subjects. The value of genetically isolated populations for the identification of genetic risk factors for common and complex disorders has gained much attention recently because the genetic make-up of these populations is likely to be less complex than that of the general population and our findings should prompt investigations to the nature of a familial aggregation of parkinsonism in this population.
The L265P mutation may be helpful for understanding the pathogenesis of immune-privileged site-associated DLBCLs. The presence of the mutation, together with its protein overexpression, could also be used as a prognostic marker in advanced stage DLBCLs.
Excision Repair Cross-Complementing Group 1 (ERCC1) is an important DNA repair gene, playing critical role in nucleotide excision repair pathway and having a significant influence on genomic instability. Some studies support that ERCC1 might be a potential predictive and prognostic marker in non-small cell lung cancer (NSCLC). ERCC1 has also been shown to be a promising biomarker in NSCLC treated with a cisplatin-based regimen. Therefore, the determination of ERCC1 expression at DNA, mRNA and protein level in different stages of NSCLC is still an important topic in the cancer. Ninety-one formalin-fixed paraffin-embedded tumor samples histopathologically diagnosed as NSCLC were examined in this study. ERCC1 expression at protein level were scored by immunohistochemistry. The gene amplification and mRNA expression levels for ERCC1 were determined by real-time quantitative PCR. There was complete concordance among the three methods in 39 tumor samples (42.9%). A strong correlation was found between DNA amplification and mRNA expression (r=0.662) while there was no correlation between mRNA and protein assessment for ERCC1 expression (r=-0.013). ERCC1 expression at mRNA and DNA level (63.1 and 84.2%, respectively) in tumors at stage III was higher than at the other stages. In contrast, the protein expression at stage II and III (56.6 and 52.6%, respectively) of NSCLC was lower than that of tumors with stage I NSCLC. These results show that the mechanism by which ERCC1 expression might play a role in tumor behavior. This study was also confirmed that the appropriate validation and qualification in methods used for ERCC1 status were needed before its clinical application and implementation.
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