Expanded phenotypic spectrum in MODY 5 patients with 17q12 deletion syndrome: experience from an Indian tertiary care hospital.

Objectives: To study the clinical and genotypic spectrum of patients with deletions (MODY 5) at a tertiary care hospital.

Methods: This study included four patients from the Department of Endocrinology at Sher-i-Kashmir Institute of Medical Sciences Srinagar with a strong clinical suspicion of MODY 5. Genetic analysis, including a monogenic gene panel comprising 78 genes associated with MODY and other similar forms of monogenic diabetes, was done.

A Systematic Review of the Effect of Gene-Lifestyle Interactions on Metabolic-Disease-Related Traits in South Asian Populations.

Context: Recent data from the South Asian subregion have raised concern about the dramatic increase in the prevalence of metabolic diseases, which are influenced by genetic and lifestyle factors.

Objective: The aim of this systematic review was to summarize the contemporary evidence for the effect of gene-lifestyle interactions on metabolic outcomes in this population.

Data Sources: PubMed, Web of Science, and SCOPUS databases were searched up until March 2023 for observational and intervention studies investigating the interaction between genetic variants and lifestyle factors such as diet and physical activity on obesity and type 2 diabetes traits.

Effect of Replacing Sucrose in Beverages with Nonnutritive Sweetener Sucralose on Cardiometabolic Risk Factors Among Asian Indian Adults with Type 2 Diabetes: A 12-Week Randomized Controlled Trial.

Introduction: Country-specific evidence-based research is crucial for understanding the role of nonnutritive sweeteners (NNS) in managing type 2 diabetes (T2D). The main aim of this study was to explore the effect of replacing sucrose with sucralose in coffee/tea in Asian Indians with type 2 diabetes (T2D).

Methods: This 12-week, parallel-arm randomized controlled trial included 210 participants with T2D, assigned to the intervention group, where sugar/sucrose in coffee or tea was substituted with sucralose, or the control group, where sugar/sucrose was continued.

Role and Significance of Dietary Protein in the Management of Type 2 Diabetes and Its Complications in India: An Expert Opinion.

Background: Obesity, prediabetes, and type 2 diabetes mellitus (T2DM) pose a triple burden in India. Almost two-thirds of people with diabetes (PWD) in India are found to have suboptimal glycemic, blood pressure, and lipid control. Medical nutrition therapy (MNT) in diabetes has emphasized on the amount and type of carbohydrates for years.

A novel stop-loss mutation in NKX2-2 gene as a cause of neonatal diabetes mellitus: molecular characterization and structural analysis.

Aim: To identify the genetic etiology of neonatal diabetes in an infant and to elucidate the molecular mechanism of the identified mutation underlying the pathogenesis.

Methods: Genetic analysis was carried out by sequencing of known etiological genes associated with NDM. Molecular characterization was performed by constructing a identified mutation in NKX2-2 gene and  functional aspects was tested using transactivation, protein expression, DNA binding, nuclear localization assays.

Identification of appropriate biochemical parameters and cut points to detect Maturity Onset Diabetes of Young (MODY) in Asian Indians in a clinic setting.

Maturity Onset Diabetes of the Young (MODY) is a monogenic form of diabetes which is detected by genetic testing. We looked at clinical and biochemcial variables that could help detect possible MODY among Asian Indians with youth-onset diabetes. From the diabetes electronic medical records of a diabetes care centre in Chennai in southern India, demographic, anthropometric, and biochemical details of 34 genetically confirmed MODY participants were extracted.

Molecular characterization and re-interpretation of variants identified in Indian MODY subjects towards precision medicine.

Background: is an essential component of the transcription factor network that controls pancreatic β-cell differentiation, maintenance, and glucose stimulated insulin secretion (GSIS). A continuum of protein malfunction is caused by variations in the gene, from severe loss-of-function (LOF) variants that cause the highly penetrant Maturity Onset Diabetes of the Young (MODY) to milder LOF variants that are far less penetrant but impart a population-wide risk of type 2 diabetes that is up to five times higher. Before classifying and reporting the discovered variations as relevant in clinical diagnosis, a critical review is required.

Sex-Based Differences in Clinical Profile and Complications among Individuals with Type 2 Diabetes Seen at a Private Tertiary Diabetes Care Centre in India.

This study aimed to compare the clinical and biochemical profiles as well as the complications in males and females with type 2 diabetes (T2DM) presenting to a private tertiary diabetes care centre in India. This is a retrospective study, conducted between 1 January 2017 and 31 December 2019, and included 72,980 individuals with T2DM, aged ≥ 18 years (age and sex-matched-males-36,490; females-36,490). Anthropometric measurements, blood pressure, fasting plasma glucose (FPG), post-prandial plasma glucose (PPPG), glycated haemoglobin (HbA1c), lipids, urea, and creatinine were measured.

Clinical and biochemical profile of childhood-adolescent-onset type 1 diabetes and adult-onset type 1 diabetes among Asian Indians.

Aim: To compare the clinical and biochemical profile and prevalence of complications among childhood/adolescent-onset (CAO; onset of diabetes< 20 years of age) and adult-onset (AO; onset of diabetes- ≥ 20 years of age) type 1 diabetes (T1D), seen at a tertiary care diabetes center in south India.

Method: Data of 5578 individuals with T1D, diagnosed based on a history of diabetic ketoacidosis or ketonuria, fasting C-peptide < 0.3 pmol/mL and stimulated C-peptide values < 0.

Clearing the Myths around non-nutritive/noncaloric Sweeteners: An Efficacy and Safety Evaluation.

Non-nutritive sweeteners (NNSs) are used to substitute sugar in the diet and are approved by the regulatory bodies in many countries, including the Food and Agriculture Organization (FAO)/the World Health Organization (WHO). Non-nutritive sweeteners are here to stay, as it is an effective strategy to reduce sugar and caloric intake which is a public health priority today. It is a tool to increase dietary compliance in the management of obesity and diabetes and is a partner for fitness seekers.

Impact of Lipid Genetic Risk Score and Saturated Fatty Acid Intake on Central Obesity in an Asian Indian Population.

Abnormalities in lipid metabolism have been linked to the development of obesity. We used a nutrigenetic approach to establish a link between lipids and obesity in Asian Indians, who are known to have a high prevalence of central obesity and dyslipidaemia. A sample of 497 Asian Indian individuals (260 with type 2 diabetes and 237 with normal glucose tolerance) (mean age: 44 ± 10 years) were randomly chosen from the Chennai Urban Rural Epidemiological Study (CURES).

Digital health and diabetes: experience from India.

The digitization of healthcare and its usage in the delivery of healthcare have experienced exponential growth across the world in recent times. India's fast-growing diabetes population has been exerting immense pressure on the country's healthcare infrastructure. Various innovative and evolving technologies are converging to impact the trajectory of digital health in diabetes.

Epidemiology of type 2 diabetes in India.

The burden of diabetes is high and increasing globally, and in developing economies like India, mainly fueled by the increasing prevalence of overweight/obesity and unhealthy lifestyles. The estimates in 2019 showed that 77 million individuals had diabetes in India, which is expected to rise to over 134 million by 2045. Approximately 57% of these individuals remain undiagnosed.

Effect of internal migration on diabetes and metabolic abnormalities in India - The ICMR-INDIAB study.

Aims: To assess the effect of migration (rural-to-urban and vice versa) on prevalence of diabetes and metabolic disorders in Asian Indians participating in the Indian Council of Medical Research-India Diabetes (ICMR-INDIAB) study.

Materials And Methods: The ICMR-INDIAB study is a national study on diabetes and associated cardiometabolic disorders in individuals aged ≥20 years from 28 states and 2 union territories of India. Individuals who moved to a different place from their place of birth and had resided in the new location for at least one year were considered as migrants.

Variations in glycated haemoglobin with age among individuals with normal glucose tolerance: Implications for diagnosis and treatment-Results from the ICMR-INDIAB population-based study (INDIAB-12).

Aim: To report on glycated haemoglobin (HbA1c) values among individuals with normal glucose tolerance (NGT) at different age groups, using data acquired from a large national survey in India.

Materials And Methods: Data on glycaemic parameters at different age groups were obtained from the Indian Council of Medical Research-INdia DIABetes (ICMR-INDIAB) study, in adults aged ≥ 20 years representing all parts of India. Age-wise distribution of HbA1c was assessed among individuals with NGT (n = 14,222) confirmed by an oral glucose tolerance test using the World Health Organization (WHO) criteria.

Insulin gene mutations linked to permanent neonatal diabetes mellitus in Indian population.

Background And Aim: Neonatal diabetes mellitus (NDM) is a rare monogenic disorder of pancreatic beta cell mass and/or function. In the present study we aimed to evaluate the INS gene mutations in a cohort of children with Permanent Neonatal Diabetes Mellitus (PNDM) and to explore the clinical and genetic characteristics of PNDM caused by INS mutations.

Methods: Direct sequencing of all exons of INS genes was carried out in 189 children with PNDM.

Lower Dietary Intake of Plant Protein Is Associated with Genetic Risk of Diabetes-Related Traits in Urban Asian Indian Adults.

The increasing prevalence of type 2 diabetes among South Asians is caused by a complex interplay between environmental and genetic factors. We aimed to examine the impact of dietary and genetic factors on metabolic traits in 1062 Asian Indians. Dietary assessment was performed using a validated semi-quantitative food frequency questionnaire.

Advancing Therapy in Suboptimally Controlled Basal Insulin-Treated Type 2 Diabetes: Clinical Outcomes With iGlarLixi Versus Premix BIAsp 30 in the SoliMix Randomized Controlled Trial.

Objective: To directly compare the efficacy and safety of a fixed-ratio combination, of insulin glargine 100 units/mL and the glucagon-like peptide 1 receptor agonist lixisenatide (iGlarLixi), with those of a premix insulin analog, biphasic aspart insulin 30 (30% insulin aspart and 70% insulin aspart protamine) (BIAsp 30) as treatment advancement in type 2 diabetes suboptimally controlled on basal insulin plus oral antihyperglycemic drugs (OADs).

Research Design And Methods: In SoliMix, a 26-week, open-label, multicenter study, adults with suboptimally controlled basal insulin-treated type 2 diabetes (HbA ≥7.5% and ≤10%) were randomized to once-daily iGlarLixi or twice-daily BIAsp 30.