RESUMO
Abstract Alzheimer's disease and Down syndrome often exhibit close association and predictively share common genetic risk-factors. Presenilin-1 (PSEN-1) and Apolipoprotein E (APOE) genes are associated with early and late onset of Alzheimer's disease, respectively. Presenilin −1 is involved in faithful chromosomal segregation. A higher frequency of the APOE ε4 allele has been reported among young mothers giving birth to Down syndrome children. In this study, 170 Down syndrome patients, grouped according to maternal meiotic stage of nondisjunction and maternal age at conception, and their parents were genotyped for PSEN-1 intron-8 and APOE polymorphisms. The control group consisted of 186 mothers of karyotypically normal children. The frequencies of the PSEN-1 T allele and TT genotype, in the presence of the APOE ε4 allele, were significantly higher among young mothers (< 35 years) with meiosis II nondisjunction than in young control mothers (96.43% vs. 65.91% P = 0.0002 and 92.86% vs. 45.45% P < 0.0001 respectively) but not among mothers with meiosis I nondisjunction. We infer that the co-occurrence of the PSEN-1 T allele and the APOE ε4 allele associatively increases the risk of meiotic segregation error II among young women.
RESUMO
Aims: To assess the knowledge and attitude of post- graduate medical students regarding evidence based medicine (EBM) and to find out the barriers against its implementation, if any. Study Design: Medical college based cross-sectional survey. Place and Duration of Study: The study was carried out between October 2013 to March 2014, at a medical college in Kolkata, West Bengal, India. Methodology: Altogether 145 post-graduate medical students of clinical disciplines filled up a predesigned, pre-tested, structured questionnaire and data were analyzed by standard statistical procedures. Results: The mean knowledge score was found to be 13.46±3.10. The score was arbitrary, ranged from 0 to 20 and higher score corresponded to higher knowledge. The distribution of the mean knowledge score among <30 years (13.34±3.28) and ≥30 years (13.67±2.62) was the same across these two categories (P =.62). Large proportions of the respondents were not familiar with reputed EBM resources such as Cochrane data base (66.9%) and Best Evidence (67.6%). Use of Medline was also quite poor (35.9%). Nearly half of them did not think that EBM was focused on patient’s values and preferences and many believed that EBM would place another demand on the already overburdened residents and doctors. Quite a large proportion thought that EBM would be of limited value in clinical practice. However the mean attitude score (21.23±4.06) showed an overall favorable attitude towards EBM. There was a positive correlation between the mean knowledge and attitude scores (P =.008). The common barriers against the implementation of evidence-based medicine were “no ready access to resources” (68.3) and “never taught on the subject” (56.6%). Conclusion: Although many of the respondents were not adequately knowledgeable about evidence-based medicine and also quite a few had a negative attitude towards its practicality, the positive correlation between knowledge attitude scores suggested that imparting proper knowledge could bring about a positive change in this attitude.