Study of variants associated with ventricular septal defects (VSDs) highlights the unique genetic structure of the Pakistani population

Abstract Background Ventricular septal defects (VSDs) are one of the leading causes of death due to cardiac anomalies during the first months of life. The prevalence of VSD in neonates is reported up to 4%. Despite the remarkable progress in medication, treatment and surgical procedure for VSDs, the genetic etiology of VSDs is still in infancy because of the complex genetic and environmental interactions. Methods Three hundred fifty subjects (200 VSD children and 150 healthy controls) were recruited from different pediatric cardiac units. Pediatric clinical and demographic data were collected. A total of six variants, rs1017 (ISL1), rs7240256 (NFATc1), rs36208048 (VEGF), variant of HEY2, rs11067075 (TBX5) and rs1801133 (MTHFR) genes were genotyped by tetra-ARMS PCR and PCR–RFLP methods. Results The results showed that in cases, the rs1017 (g.16138A > T) variant in the ISL1 gene has an allele frequency of 0.42 and 0.58 respectively for the T and A alleles, and 0.75 and 0.25 respectively in the controls. The frequencies of the AA, TA and TT genotypes were, 52%, 11% and 37% in cases versus 21%, 8% and 71% respectively in the controls. For the NFATc1 variant rs7240256, minor allele frequency (MAF) was 0.43 in cases while 0.23 in controls. For the variant in the VEGF gene, genotype frequencies were 0% (A), 32% (CA) and 68% (CC) in cases and 0.0%, 33% and 67% respectively in controls. The allele frequency of C and A were 0.84 and 0.16 in cases and 0.83 and 0.17 respectively in controls. The TBX5 polymorphism rs11067075 (g.51682G > T) had an allelic frequency of 0.44 and 0.56 respectively for T and G alleles in cases, versus 0.26 and 0.74 in the controls. We did not detect the presence of the HEY2 gene variant (g.126117350A > C) in our pediatric cohort. For the rs1801133 (g.14783C > T) variant in the MTHFR gene, the genotype frequencies were 25% (CC), 62% (CT) and 13% (TT) in cases, versus 88%, 10% and 2% in controls. The ISL1, NFATc1, TBX5 and MTHFR variants were found to be in association with VSD in the Pakistani pediatric cohort whilst the VEGF and HEY2 variants were completely absent in our cohort. Conclusion We propose that a wider programme of genetic screening of the Pakistani population for genetic markers in heart development genes would be helpful in reducing the risk of VSDs

Assessment of flatulence causing agents in Chickpea (Cicer arietinum L.) and their possible removal

Abstract Flatulence and fullness of stomach is one of the most common problem associated with chickpea primary due to presence of some oligosaccharides and phenols. In this investigation Desi and Kabuli varieties were compared for these oligosaccharides and phenolic compounds. Furthermore, the effect of different processing and cooking methods such as soaking, cooking and germination in the reduction of these antiphysiological factors were are also studies. Maximum tannic acid (0.90 ± 0.20%) was observed in Parbat and C-44 while minimum (0.60 ± 0.04%) in Karak-2. Stachyose contents ranged between 1.10 ± 0.05 (Karak-3) to 1.42 ± 0.02% (Parbat) while raffinose was 0.63 ± 0.05(Karak-3) to 0.81 ± 0.02% (Dasht). The highest tannic acid content was reduced up to 50% in C-44 by cooking of 72 hours germinated seeds. Stachyose and raffinose contents were completely removed after 72 hours germination. Present studies revealed that cooking after germination is the most effective method to reduce the anti-nutritional factors of chickpea. Individually, soaking and cooking also contributed to the loss of the same factors but to a lesser extent

Assessing the knowledge, attitudes, and practices of students regarding Ebola virus disease outbreak

<b>Background</b>\ud \ud - The emergence and spread of Ebola outbreak is a growing problem worldwide, which represents a significant threat to public health. Evidence has shown that the level of knowledge, attitude, and practice of people in the society play major roles in controlling the spread of Ebola virus disease. This study was designed to determine knowledge, attitude and practice of students at School of Public Health, Tehran University of Medical Sciences towards Ebola.\ud \ud <b>Methods</b>\ud \ud - A cross-sectional survey was performed in Tehran, Iran in 2014 using a pretested self-administered questionnaire on a stratified sample of 400 students. Descriptive and multivariate analyses were used for statistical analysis.\ud \ud <b>Results</b>\ud \ud - All-in-all, 385 students returned the completed questionnaires making a response rate of 96.3%., 239 (62.2%) were females and 145 (37.8%) were males. The mean age of female and males were 28.44 and 30.3 years respectively. Of the 385 students, 83 (21.7%) were studying at PhD level, 210 (55.0%) at Masters Level (including MPH) and 89 (23.3%) at Bachelors level. knowledge of the students regarding EVD transmission was lowest among students of Department of Occupational Health (50.0%), followed by Health Education and Promotion Department (33.3%). Virology Department recorded the highest percentage of students who had selected correct answers regarding EVD prevention (100.0%)\ud \ud <b>Conclusion</b>\ud \ud - These findings will aid in the assessment of the adequacy of current students’ educational curriculum. Also, it will provide further insight in designing future multifaceted interventions to promote specific messages to change attitude and improve practice