Genetic studies on the APOA1-C3-A5 gene cluster in Asian Indians with premature coronary artery disease

Background

The APOA1-C3-A5 gene cluster plays an important role in the regulation of lipids. Asian Indians have an increased tendency for abnormal lipid levels and high risk of Coronary Artery Disease (CAD). Therefore, the present study aimed to elucidate the relationship of four single nucleotide polymorphisms (SNPs) in the Apo11q cluster, namely the -75G>A, +83C>T SNPs in the APOA1 gene, the Sac1 SNP in the APOC3 gene and the S19W variant in the APOA5 gene to plasma lipids and CAD in 190 affected sibling pairs (ASPs) belonging to Asian Indian families with a strong CAD history.

Methods & results

Genotyping and lipid assays were carried out using standard protocols. Plasma lipids showed a strong heritability (h² 48% – 70%; P < 0.0001). A subset of 77 ASPs with positive sign of Logarithm of Odds (LOD) score showed significant linkage to CAD trait by multi-point analysis (LOD score 7.42, P < 0.001) and to Sac1 (LOD score 4.49) and -75G>A (LOD score 2.77) SNPs by single-point analysis (P < 0.001). There was significant proportion of mean allele sharing (pi) for the Sac1 (pi 0.59), -75G>A (pi 0.56) and +83C>T (pi 0.52) (P < 0.001) SNPs, respectively. QTL analysis showed suggestive evidence of linkage of the Sac1 SNP to Total Cholesterol (TC), High Density Lipoprotein-cholesterol (HDL-C) and Apolipoprotein B (ApoB) with LOD scores of 1.42, 1.72 and 1.19, respectively (P < 0.01). The Sac1 and -75G>A SNPs along with hypertension showed maximized correlations with TC, TG and Apo B by association analysis.

Conclusion

The APOC3-Sac1 SNP is an important genetic variant that is associated with CAD through its interaction with plasma lipids and other standard risk factors among Asian Indians.     

Evaluation and control of the risk of foodborne pathogens and spoilage bacteria present in Awa-Uirou, a sticky rice cake containing sweet red bean paste

The risk of food poisoning and growth of spoilage bacteria in Awa-Uirou, a sticky rice cake containing sweet red bean paste, was evaluated. Toxin-producing bacteria such as Staphylococcus aureus and Bacillus cereus are the main causes of food poisoning linked to this kind of food. The water activity in this product is in the range suitable for growth of S. aureus, B. cereus, and B. subtilis. The viable count of S. aureus or B. cereus spore cocktail was significantly reduced to 2.3 log colony-forming units (CFU)/g after 70 minutes steaming treatment at 100 degrees C. However, the heat-resistant endospores of B. subtilis germinated during storage at 30 degrees C to cause appreciable syneresis of the starch gel matrix in 4 days. The addition of 0.5% glycine before steaming treatment was found to effectively suppress the growth of B. cereus but was not effective in controlling S. aureus throughout the 7 days incubation period at 30 degrees C. On the other hand, S. aureus and B. cereus could grow > 5.0 log CFU/g in an inoculated sample without glycine within 3 days when stored at 30 degrees C. Moreover, addition of 0.5% glycine before the steaming process did not have any significant effect on color, texture, or taste of sticky rice cake. Therefore, results of this study demonstrated that the addition of 0.5% glycine before the steaming process could inhibit B. cereus and B. subtilis multiplication in the steamed rice confection which in turn may help reduce the risk of food poisoning or quality loss.     

Risk Behaviors Related to Inter-personal Violence Among School and College-going Adolescents in South Delhi

Background:

Injuries are a major cause of death and disability among the adolescents in the world.

Objective:

To study risk behavior related to interpersonal violence amongst school- and college-going adolescents in South Delhi and its epidemiological correlates.

Study Design:

Cross-sectional study.

Setting:

Three schools and two colleges in South Delhi.

Participants:

Five hundred and fifty adolescents aged 14-19 years.

Statistical Analysis:

Proportions, Chi-square test, multivariate logistic regression.

Results:

Among the study participants, 65 (11.8%) reported having carried a weapon in past 30 days. Seventy-four (13.5%) respondents had threatened or injured someone with a weapon in past 12 months. Almost one in every two boys (49.1%) reported being involved in a physical fight in past 12 months. Involvement in interpersonal violence was found to be significantly more amongst males than females. Adolescents who were working part time were more likely to be ‘at risk’ (67.5%) than those not working (48.5%). In logistic regression analysis, the significant correlates of interpersonal violence were male gender, lower age, number of close friends, having seen role models smoke/drink, and residing in resettlement colonies, slums or villages. The findings regarding violence-related behaviors among adolescents are remarkably similar to those in other countries.     

Mixed Supra- and Infradiaphragmatic Totally Anomalous Pulmonary Venous Connection in an Adolescent

An unusual type of mixed totally anomalous pulmonary venous drainage in an 11-year-old boy was diagnosed on angiography. The left-side veins drained via a vertical vein into the portal venous system, while the right-side veins drained high into the superior vena cava. Surgical correction of this abnormality was successfully performed.     

The role and clinical implications of the endosteal niche and osteoblasts in regulating leukemia

Osteoblasts are one among the critical components of the endosteal bone marrow (BM) niche. In addition to hematopoietic stem cell fate, their role in leukemogenesis as well as metastasis of a variety of cancers has been demonstrated in various studies. In this regard, endosteal niche can have a dual role as an initiator and protective role against leukemia. Knowledge of growth factors, chemokines and cytokines secreted by osteoblasts as well as their interaction with signaling pathways inform our understanding of the development, prognosis, recurrence and treatment of malignant BM diseases. Clinical progress in targeting the endosteal niche is also discussed.     

Barriers to timely diagnosis and treatment for children with hearing impairment in a southern Indian city: a qualitative study of parents and clinic staff

Objective: In low income countries, deaf children are identified late due to the absence of a universal screening. Hearing impairment is a common yet neglected disability in India that leads to loss of speech and language. This qualitative study explored barriers to accessing appropriate hearing services in one city in southern India. Design: To identify the barriers in timely management of deafness, 25 semi-structured interviews were conducted. Data were examined using Applied Thematic Analysis. Study sample: Seventeen mothers of deaf children, primarily from low socioeconomic backgrounds, and eight staff members at a charitable hearing centre in Hyderabad. Results: Barriers to accessing hearing services included failure to recognise deafness, the dominant role of elders in household decisions, belief that deafness would resolve, reassurance from a child’s overall good health, lack of funds and transportation barriers to reach the centre particularly from rural areas. Parents frequently learned about services through word of mouth. Conclusions: The challenges to accessing appropriate services for deafness operate prior to presentation and include educational, cultural, navigational and financial barriers especially for those of lower socioeconomic status and residents of rural areas. The findings highlighted the need to raise awareness and implement wider screening programmes for early interventions.