Factors Influencing the Consumption of Tobacco amongst the Khasi Indigenous People in Northeast India.

Background: Tobacco use in any form is a major public health concern. It accounts for nearly 1.35 million deaths every year.

Barriers and Facilitators during Community Reintegration of People with Spinal Cord Injury: A Qualitative Study.

Introduction: Spinal cord injury (SCI) individuals face challenges in community reintegration due to various factors. This study explores the barriers and facilitators affecting their reintegration, aiming to understand and address their diverse needs and challenges in different cultural contexts.

Methods: The present qualitative study was conducted between December 2021 to June 2022 among 71 SCI individuals as data saturation was achieved.

Relational Empathy, Holistic Care, and Quality of Life in Persons With Spinal Cord Injuries: A Cross-sectional Study.

Introduction: High-quality health systems are built on the concept of patient-centered approach, which includes holistic care and empathy. With time, this has progressively been recognized as a valuable paradigm for better health outcomes, particularly in chronic diseases.

Objectives: The study aims to determine the patients' perception during their consultation and to assess the relationship between Consultation and Relational Empathy measure with demographic/injury variables and quality of life.

Sociodemographic Pattern of Postmenopausal Women and Health Issues: A Study in Rural Bathinda, Punjab.

Background: The diminishing hormonal concentrations in women after menopause may trap them into a number of reproductive health deficits. Their lifestyle, occupation, dietary constituents, etc., affect the overall health.

Level of endosulfan among women in Talwandi Sabo Block of Southern Punjab, India.

Endosulfan is one of the most prevalent organochlorine pesticides used in the agricultural sector in the developing countries including India. It affects the physiological functioning of different organ systems including nervous, immune, hepatic, and reproductive system. Realizing the safety and health concern, restrictions have been imposed at various levels, but the usage has still continued in the plantation crops.

Folic acid, dietary habits, and homocysteine levels in relation to neural tube defects: A case-control study in North India.

Purpose: The present study attempts to understand the complex contribution of biochemical (plasma homocysteine) and nutritional parameters (dietary pattern and folate supplementation) to the neural tube defects (NTDs) affected pregnancies and controls in North Indian population.

Methods: Case-control study design was adopted to assess the role of folic acid, dietary habits, and homocysteine in relation to NTD births. The subjects comprised of 130 mothers of affected children (cases) and 233 mothers of healthy children (controls), who were either carrying NTD fetus or gave birth to NTD child.

Sickness Status and Neural Tube Defects: A Case-Control Study in a North Indian Population.

Background: The prevalence of neural tube defects (NTDs) in India is high in comparison to other regions in the world, with the Northern part reporting the highest prevalence.

Methods: To explore the risk factors for NTDs, a case-control study was carried out in Delhi from January 2008 to June 2011. Using multivariate logistic regression model analysis, 308 cases were compared with 580 controls and adjusted odds ratio (AOR) was calculated using SPSS version 17.

Toxicological profile of organochlorines aldrin and dieldrin: an Indian perspective.

Several epidemiological studies have suggested various environmental factors as a possible cause for increased incidence of various abnormalities. Of the various environmental contaminants, the most prevalent and the most discussed are the endocrine disrupting chemicals. Contact of such disruptors with humans has become inevitable today.

Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.

Aims: The goal of this study was to identify mutations in the propionyl-CoA carboxylase alpha subunit (PCCA) and propionyl-CoA carboxylase beta subunit (PCCB) genes, and to assess their effects on propionic academia (PA) patients.

Methodology: Twenty-five Indian children with PA were enrolled in this study. Bidirectional Sanger sequencing was performed on both the coding and flanking regions of the PCCA and PCCB genes and the chromatograms were analyzed.

Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients.

Maple syrup urine disease (MSUD) is caused by mutations in genes BCKDHA, BCKDHB, DBT encoding E1α, E1β, and E2 subunits of enzyme complex, branched-chain alpha-ketoacid dehydrogenase (BCKDH). BCKDH participates in catabolism of branched-chain amino acids (BCAAs) - leucine, isoleucine and valine in the energy production pathway. Deficiency or defect in the enzyme complex causes accumulation of BCAAs and keto-acids leading to toxicity.

CYP2C9, VKORC1, CYP4F2, ABCB1 and F5 variants: influence on quality of long-term anticoagulation.

Aims: The study aims to evaluate the impact of genetic, demographic and clinical data on various measures of outcome of anticoagulation quality in patients.

Patients And Methods: The study consisted of 310 patients receiving long-term oral anticoagulation therapy in our hospital. Apart from demographic and clinical variables, 21 SNPs (in 7 genes) were analyzed and compared with the outcomes of anticoagulation therapy.

Pharmacogenetic typing for oral anti-coagulant response among factor V Leiden mutation carriers.

Context: Factor V Leiden mutation is the most common inherited predisposition for hypercoagulability and thereby a common genetic cause for initiation of oral anti-coagulation therapy. There is a dearth of knowledge of coumarin response profile in such thrombophilic population.

Aims: The current pilot study aims to estimate coumarin sensitivity in an Indian cohort with an inherited thrombophilia risk factor (Factor V Leiden mutation carriers) based on the observed frequency of CYP2C9 (*)2, (*)3 and VKORC1-1639G >A genotype combinations.

Implication of novel CYP2C9*57 (p.Asn204His) variant in coumarin hypersensitivity.

Introduction: Polymorphisms in CYP2C9 can vary the rate of metabolic clearance of oral anticoagulants, risking toxicity in patients. The present study focused on exploring the genetic etiology of idiopathic hyper sensitivity to coumarin anticoagulants in a patient who presented with multiple bleeding episodes and supra-elevated International Normalized Ratios.

Materials And Methods: Bidirectional gene sequencing of CYP2C9 and VKORC1 was carried out.

Variability in CYP2C9 allele frequency: a pilot study of its predicted impact on warfarin response among healthy South and North Indians.

Background: Wide variability exists in the frequency of pharmacogeneticmarkers for anticoagulant response in different populations. There is insufficient data on the prevalence of these variant genotypes in the Indian population. This study aims to determine the frequency of various genotype combinations of CYP2C9*2, *3 and VKORC1-1639G>A polymorphisms in the South and North Indians.

Association of sociodemographic and nutritional factors with risk of neural tube defects in the North Indian population: a case-control study.

Objective: To assess the role of sociodemographic and nutritional factors in the incidence of births affected by neural tube defects (NTD) in the North Indian population.

Design: Case-control study.

Setting: Government hospitals of Delhi, India.

Effect of maternal Tp53 gene G412C polymorphism on neural tube defects: A study from North India.

Context: Tumor protein 53 (tp53) is one of the candidate gene proposed for neural tube defects, which affects central nervous system during early embryonic development, on the basis of mouse models.

Aims: The present study is an attempt to unfold the possible role of tp53 G412C polymorphism in the incidence of neural tube defect (NTDs) in humans.

Settings And Design: Case-control study was carried out in government hospitals of Delhi, India.

Folate supplementation, MTHFR gene polymorphism and neural tube defects: a community based case control study in North India.

The present study analyses the potential role of MTHFR gene polymorphism, folate supplementation and dietary pattern among the mothers of NTD neonates and controls in heterogeneous populations of North India, with the special focus on their ethnic labels. Results indicated significant increased risk for neural tube defects with respect to low folic acid supplementation and vegetarian diet in univariate and multivariate analyses. There was no significant difference in the genotypic or allelic distribution of MTHFR C677T polymorphism, however, high frequency of CT genotype, as observed, among controls suggests heterozygous advantage probably due to supplementary folate.

Age at menarche in adolescent Khasi girls, Meghalaya.

The mean and median age at menarche in 360 Khasi girls was found to be 13.22 ± 0.88 and 12.