Functional Characterization of Thyroid Peroxidase Missense Variants Causing Thyroid Dyshormonogenesis in Asian Indian Population.

Introduction: Thyroid dyshormonogenesis (TDH) is a subgroup of congenital hypothyroidism with recessive inheritance resulting from disease-causing variants in thyroid hormone biosynthesis pathway genes, like DUOX2, TG, TPO, SLC5A5, SLC26A4, IYD, DUOXA2, and SLC26A7. Thyroid peroxidase (TPO) is a crucial enzyme involved in thyroid hormone biosynthesis and is one of the frequently mutated genes in patients with TDH. The purpose of the study was to describe the in silico and functional characterization of novel variants in TPO gene identified in patients with TDH.

Antenatal oral glucose tolerance test abnormalities in the prediction of future risk of postpartum diabetes in women with gestational diabetes: Results from the LIVING study.

Objectives: To explore associations between type and number of abnormal glucose values on antenatal oral glucose tolerance test (OGTT) with postpartum diabetes in South Asian women diagnosed with gestational diabetes (GDM) using International Association of the Diabetes and Pregnancy Study Groups criteria.

Methods: This post-hoc evaluation of the Lifestyle Intervention IN Gestational Diabetes (LIVING) study, a randomized controlled trial, was conducted among women with GDM in the index pregnancy, across 19 centers in Bangladesh, India, and Sri Lanka. Postpartum diabetes (outcome) was defined on OGTT, using American Diabetes Association (ADA) criteria.

The incidence and risk factors of postpartum diabetes in women from Bangladesh, India and Sri Lanka (South Asia) with prior gestational diabetes mellitus: Results from the LIVING study.

Aim: To study, the incidence and risk factors for postpartum diabetes (DM), in women with gestational diabetes mellitus (GDM) from South Asia (Bangladesh, India and Sri Lanka), followed for nearly two years after delivery.

Methods: Women with prior GDM diagnosed using IADPSG criteria were invited at 19 centres across Bangladesh, India and Sri Lanka for an oral glucose tolerance test (OGTT) following childbirth, and were enrolled in a randomized controlled trial. The glycaemic category (outcome) was defined from an OGTT based on American Diabetes Association criteria.

Metabolic non-communicable disease health report of India: the ICMR-INDIAB national cross-sectional study (ICMR-INDIAB-17).

Background: Non-communicable disease (NCD) rates are rapidly increasing in India with wide regional variations. We aimed to quantify the prevalence of metabolic NCDs in India and analyse interstate and inter-regional variations.

Methods: The Indian Council of Medical Research-India Diabetes (ICMR-INDIAB) study, a cross-sectional population-based survey, assessed a representative sample of individuals aged 20 years and older drawn from urban and rural areas of 31 states, union territories, and the National Capital Territory of India.

Cost-effectiveness of a multicomponent quality improvement care model for diabetes in South Asia: The CARRS randomized clinical trial.

Objectives: To assess the cost-effectiveness of a multicomponent strategy versus usual care in people with type 2 diabetes in South Asia.

Design: Economic evaluation from healthcare system and societal perspectives.

Setting: Ten diverse urban clinics in India and Pakistan.

A new FOXE1 homozygous frameshift variant expands the genotypic and phenotypic spectrum of Bamforth-Lazarus syndrome.

Bamforth-Lazarus syndrome is a rare autosomal recessive disease caused by biallelic loss-of-function variants in the FOXE1 gene. The condition is characterized by congenital hypothyroidism due to thyroid agenesis or thyroid hypoplasia, cleft palate, spiky hair, with or without choanal atresia, and bifid epiglottis. To date, seven pathogenic variants have been reported in the FOXE1 gene causing Bamforth-Lazarus syndrome.

Effects of a Lifestyle Intervention to Prevent Deterioration in Glycemic Status Among South Asian Women With Recent Gestational Diabetes: A Randomized Clinical Trial.

Importance: Women with recent gestational diabetes (GDM) have increased risk of developing type 2 diabetes.

Objective: To investigate whether a resource-appropriate and context-appropriate lifestyle intervention could prevent glycemic deterioration among women with recent GDM in South Asia.

Design, Setting, And Participants: This randomized, participant-unblinded controlled trial investigated a 12-month lifestyle intervention vs usual care at 19 urban hospitals in India, Sri Lanka, and Bangladesh.

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.

Determinants of Waist-to-Height Ratio and Its Relation to Hypertension among School Children in India: A Multicenter Study.

Objective: To study the factors associated with waist-to-height ratio (WHtR) among school children aged 5-15 y and its association with hypertension.

Methods: In this cross-sectional study, data on background characteristics, socioeconomic status (SES), anthropometric parameters, and blood pressure were obtained from school children from three states of India. WHtR ≥ 0.

Lifestyle InterVention IN Gestational diabetes (LIVING) in India, Bangladesh and Sri Lanka: protocol for process evaluation of a randomised controlled trial.

Introduction: The development of type 2 diabetes mellitus disproportionately affects South Asian women with prior gestational diabetes mellitus (GDM). The Lifestyle InterVention IN Gestational diabetes (LIVING) Study is a randomised controlled trial of a low-intensity lifestyle modification programme tailored to women with previous GDM, in India, Bangladesh and Sri Lanka, aimed at preventing diabetes/pre-diabetes. The aim of this process evaluation is to understand what worked, and why, during the LIVING intervention implementation, and to provide additional data that will assist in the interpretation of the LIVING Study results.

Factors affecting achievement of glycemic targets among type 2 diabetes patients in South Asia: Analysis of the CARRS trial.

Objective: To assess the predictors of achieving and maintaining guideline-recommended glycemic control in people with poorly controlled type 2 diabetes.

Methods: We analyzed data from the Centre for Cardiometabolic Risk Reduction in South Asia (CARRS) Trial (n = 1146), to identify groups that achieved guideline-recommended glycemic control (HbA1c < 7%) and those that remained persistently poorly controlled (HbA1c > 9%) over a median of 28 months of follow-up. We used generalized estimation equations (GEE) analysis for each outcome i.

Comprehensive diabetes care: The Goa model.

Diabetes mellitus continues to increase in epidemic proportions globally as well as in India. Poor glycemic control in long-standing diabetes mellitus eventually leads to chronic complications such as retinopathy, nephropathy, neuropathy, and cardiovascular disease. Diabetic retinopathy is emerging as an important cause of avoidable visual impairment and blindness in India across all strata of society.

Rationale and protocol for estimating the economic value of a multicomponent quality improvement strategy for diabetes care in South Asia.

Background: Economic dimensions of implementing quality improvement for diabetes care are understudied worldwide. We describe the economic evaluation protocol within a randomised controlled trial that tested a multi-component quality improvement (QI) strategy for individuals with poorly-controlled type 2 diabetes in South Asia.

Methods/design: This economic evaluation of the Centre for Cardiometabolic Risk Reduction in South Asia (CARRS) randomised trial involved 1146 people with poorly-controlled type 2 diabetes receiving care at 10 diverse diabetes clinics across India and Pakistan.

Lifestyle intervention programme for Indian women with history of gestational diabetes mellitus.

Aim: To evaluate the feasibility and potential effectiveness of a lifestyle intervention (diet and physical activity) among women with history of gestational diabetes mellitus (GDM), delivered by trained facilitators.

Methods: Fifty-six normoglycaemic or prediabetic women with prior GDM were recruited at mean of 17 months postpartum. Socio-demographic, medical and anthropometric data were collected.

Prevalence and determinants of hypertension in apparently healthy schoolchildren in India: A multi-center study.

Background Hypertension in children is often under recognized, especially in developing countries. Data from rural areas of developing countries is particularly lacking. Objectives To study prevalence of hypertension and its determinants in apparently health school children from predominantly rural populations of India.

Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma.

Background: Genetic aetiology of pheochromocytoma (PCC) and paraganglioma (PGL) is increasingly being studied; however, Asian Indian data on this aspect are scarce.

Objective: To study the prevalence of germline mutations and genotype-phenotype correlation in Asian Indian PCC/PGL patients.

Design: In this study, 150 index patients (M:F, 73:77) with PCC/PGL were evaluated.

Effectiveness of a Multicomponent Quality Improvement Strategy to Improve Achievement of Diabetes Care Goals: A Randomized, Controlled Trial.

Background: Achievement of diabetes care goals is suboptimal globally. Diabetes-focused quality improvement (QI) is effective but remains untested in South Asia.

Objective: To compare the effect of a multicomponent QI strategy versus usual care on cardiometabolic profiles in patients with poorly controlled diabetes.

Hajdu-Cheney syndrome: a case report with review of literature.

Hajdu-Cheney syndrome is a very rare connective tissue disorder. It has autosomal dominant inheritance or may occur due to spontaneous de novo mutation. Recent research suggests that it is caused by heterozygous mutation of terminal exon of NOTCH 2.

Assessment of iodine nutrition in pregnant north Indian subjects in three trimesters.

Objective: The cross-sectional study was carried out to assess the iodine status of pregnant women, using median urinary iodine concentration (MUI) as the measure of outcome, to document the impact of advancing gestation on the MUI in normal pregnancy.

Materials And Methods: The present study assessed the MUI in casual urine samples from 50 pregnant subjects of each trimester and 50 age-matched non-pregnant controls.

Results: The median (range) of urinary iodine concentration (UIC) in pregnant women was 304 (102-859) μg/L and only 2% of the subjects had prevalence of values under 150 μg/L (iodine insufficiency).

Improving diabetes care: multi-component cardiovascular disease risk reduction strategies for people with diabetes in South Asia--the CARRS multi-center translation trial.

Aims: Cardiovascular disease (CVD) is the leading cause of morbidity and mortality in people with diabetes in South Asia. The CARRS Translation Trial tests the effectiveness, cost-effectiveness, and sustainability of a clinic-based multi-component CVD risk reduction intervention among people with diabetes in India and Pakistan.

Methods: We randomly assigned 1146 adults with diabetes recruited from 10 urban clinic sites, to receive usual care by physicians or to receive an integrated multi-component CVD risk reduction intervention.

The evolution of thyroid function with puberty.

Objective: This study was planned to describe thyroid functional status in different stages of puberty.

Study Design: We collected data from five schools across different geographical zones of Delhi. All children who consented were evaluated for anthropometry, pubertal stage, goitre status, serum free T3 (FT3), free T4 (FT4), TSH, anti-TPO (thyroid peroxidase) antibodies and thyroid ultrasound.