ICAM-1 K469E gene polymorphism, genotype-phenotype correlation, and retinopathy in Type 2 diabetes mellitus patients.

Context: The role of genetic factors in the development of diabetic retinopathy is evident from the fact that only 50% of patients with the non-proliferative type of diabetic retinopathy progress to proliferative diabetic retinopathy. Though the K469E polymorphism of the ICAM-1 (Intercellular Adhesion Molecule-1) gene is known to increase the risk of developing Diabetic Retinopathy (DR) among Type 2 diabetic patients, its role in the development of severe DR has not been extensively studied.

Aim: Hence, we aimed to determine the risk due to association of K469E polymorphism of ICAM-1 gene and sight threatening diabetic retinopathy.

Persistent organic pollutants-environmental risk factors for diabetes mellitus? - A population-based study.

Background: Globally, type-2 diabetes mellitus is increasing in epidemic proportions. A major cause of concern in India is the increasing incidence of cases, especially troubling is the observed increase in younger age groups with no risk factors. New evidence suggests that many environmental factors, such as air pollution, persistent organic pollutants (POPs), and environmental estrogens are implicated as risk factors for type-2 diabetes mellitus.

The genetics of cardiac failure: Role of a G protein-coupled receptor polymorphism in therapeutic response in an Indian population.

Background And Aim: The incidence of heart failure (HF) is rising to epidemic proportions in developing countries like India. A lack of adequate Indian studies underscores the importance of pursuing research into HF in an Indian population. G protein-coupled receptor kinase 5 ( Gln41>Leu (rs2230345) polymorphism was reported as a genetic modifier associated with survival in HF patients.

Correlation of the Expression of BRAF V600E Mutation With Various Phenotypic Expressions of Thyroid Neoplasms.

Aims We aimed to assess the incidence of the BRAF V600E mutation in thyroid neoplasms at a tertiary care center and its association with various phenotypic features. Methods and material We included all cases diagnosed as thyroid neoplasm in the past decade at the Department of Pathology of our institute and obtained their clinical details from the medical records department of the institute after obtaining permission from the authorities and due International Human Epigenome Consortium clearance. We included data on age, sex, clinical presentation, hormone status, and T and N status of the malignant neoplasms.

Cirrhotics with Monocyte Chemotactic Protein 1 Polymorphism are at Higher Risk for Developing Spontaneous Bacterial Peritonitis - A Cohort Study.

Background: Spontaneous bacterial peritonitis (SBP) is a complication of liver cirrhosis and its occurrence portends poor patient survival. There is emerging evidence that genetic predisposition could significantly alter the occurrence and course of SBP. Monocyte chemotactic protein 1 (MCP1) is a potent chemokine that perpetuates the pro-inflammatory milieu in SBP.

In-silico analysis of Covid-19 genome sequences of Indian origin: Impact of mutations in identification of SARS-Co-V2.

Covid-19 disease caused by SARS-CoV-2 is still being transmitted in developed and developing countries irrespective of healthcare setups. India with 1.3 billion people in the world is severely affected by Covid-19 with 11.

Comparison of Polymerase Chain Reaction (PCR), Microbiological and Histopathological Observations in the Diagnosis of Endometrial Tuberculosis.

Background: Female genital tuberculosis often faces diagnostic challenges due to the asymptomatic nature of the disease. Our study aims at comparing the microbiological and histopathological results with PCR in diagnosing genital tuberculosis in endometrial curettage specimens.

Methods: Around 139 patients with diverse gynaecological complaints were recruited for the study, and endometrial curettage specimens were collected.

Papillon-Lefèvre syndrome (PLS) with novel compound heterozygous mutation in the exclusion and Peptidase C1A domains of Cathepsin C gene.

Papillon Lefevre syndrome (PLS) manifests with palmoplantar keratoderma, combined with a rapidly progressive periodontitis associated with mutations in Cathepsin C (CTSC) gene. This article reports a 15-year old male proband with typical PLS traits having a novel compound heterozygote with p.Q49X mutation in exon 1 and p.

In vitro ubiquitination of Mycobacterium tuberculosis by E3 ubiquitin ligase, MKRN1.

Objectives: Ubiquitination has a role as a host defense mechanism against pathogens. To channelize autophagic mycobacteria to destruction, ubiquitin ligase like, Makorin Ring Finger Protein 1 (MKRN1) was speculated to play a role in ubiquitinating M. tuberculosis.

Evidence for a hyper-reductive redox in a sub-set of heart failure patients.

Background: Oxidative stress has been linked to heart failure (HF) in humans. Antioxidant-based treatments are often ineffective. Therefore, we hypothesize that some of the HF patients might have a reductive stress (RS) condition.

Chronic Endurance Exercise Impairs Cardiac Structure and Function in Middle-Aged Mice with Impaired Nrf2 Signaling.

Nuclear factor erythroid 2 related factor 2 (Nrf2) signaling maintains the redox homeostasis and its activation is shown to suppress cardiac maladaptation. Earlier we reported that acute endurance exercise (2 days) evoked antioxidant cytoprotection in young WT animals but not in aged WT animals. However, the effect of repeated endurance exercise during biologic aging (WT) characterized by an inherent deterioration in Nrf2 signaling and pathological aging (pronounced oxidative susceptibility-Nrf2 absence) in the myocardium remains elusive.

Genotype Phenotype Correlation of Genetic Polymorphism of PPAR Gamma Gene and Therapeutic Response to Pioglitazone in Type 2 Diabetes Mellitus- A Pilot Study.

Introduction: Pro12Ala polymorphism is a missense mutation at codon 12 in peroxisome proliferator-activated receptor γ gene (PPARG). This polymorphism is known to be associated with increased insulin sensitivity. Pioglitazone, a thiazolidinedione, is an anti-diabetic drug which acts as an agonist at PPAR γ receptor.

Modulation of host ubiquitin system genes in human endometrial cell line infected with Mycobacterium tuberculosis.

Endometrium is one of the most commonly affected sites in genital tuberculosis. The understanding of its interaction with the tubercle bacilli is of paramount importance for studying the pathogenesis of this disease. The main objective of this work was to study the interplay between Mycobacterium tuberculosis and host endometrial epithelial cell lines (Ishikawa cell lines), and to identify the differentially expressed genes upon tuberculosis infection.

Ethics workshops-are they effective in improving the competencies of faculty and postgraduates?

Introduction: Responsible conduct of research requires a good knowledge about research ethics. With the recent changes in the clinical trial regulations and the proposed introduction of ethics in medical curriculum by the Medical Council of India, there is an urgent need to train the medical faculty and postgraduates in research ethics.

Methodology: We wanted to measure the effectiveness of a one day program which was organized using didactic lectures and case scenarios on the knowledge, attitude and skills on ethics among faculty and postgraduates.

Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.

Characterization of CFTR mutations in the U.S. Hispanic population is vital to early diagnosis, genetic counseling, patient-specific treatment, and the understanding of cystic fibrosis (CF) pathogenesis.