A series of genetically confirmed congenital lipodystrophy and diabetes in adult southern Indian patients.

In this study, we analysed the mutation spectrum in subjects with suspected lipodystrophy using a targeted Next-generation sequencing (NGS) approach. Subjects with suspected lipodystrophy were for screened six genes (AGPAT2, BSCL2, LMNA, PPARG, ZMPSTE24, INSR) and the variants identified were confirmed through Sanger sequencing. The clinical and biochemical parameters were compared among the mutation positive and negative subjects.

Development of Protocol for the Indian Council of Medical Research (ICMR) task force study to strengthen the implementation of National Programme for Prevention and Control of Non-Communicable Diseases (NP-NCD) in tribal population.

Understanding the health culture of tribal community is important as health problems among tribal communities and their care is influenced by sociocultural factors, which will help in the implementation of health services. The conventional way of improving the access for the general populations may not suit the tribal populations owing to their distinct culture and owing to health systems factors as well. A stepwise process was followed for the development of a protocol to study to strengthen the implementation of National Programme for Prevention and Control of Non-Communicable Diseases.

Thyrotoxic periodic paralysis - a retrospective study from Southern India.

Objective: Thyrotoxic periodic paralysis is a rare manifestation of thyrotoxicosis. Here, we describe the clinical and biochemical features and treatment outcomes of this disorder.

Methods: This retrospective study was conducted at a tertiary care centre in southern India.

A novel simple disposition index (SPINA-DI) from fasting insulin and glucose concentration as a robust measure of carbohydrate homeostasis.

Aims: The widely used dynamic disposition index, derived from oral glucose tolerance testing, is an integrative measure of the homeostatic performance of the insulin-glucose feedback control. Its collection is, however, time consuming and expensive. We, therefore, pursued the question if such a measure can be calculated at baseline/fasting conditions using plasma concentrations of insulin and glucose.

Understanding the predictive accuracy of the InsuTAG index over other surrogate indices in normoglycaemic, non-obese males from Southern India.

We aimed to evaluate the predictive accuracy of InsuTAG index against M value of the hyperinsulinaemic-Euglycaemic clamp (HEC) procedure and fasting surrogate indices of insulin sensitivity/resistance in young, normoglycaemic, Asian Indian males. HEC studies were done in young (mean age 19.7 ± 1 years), non-obese (mean BMI 19.

Hypertension Prevalence, Awareness, Treatment, Control and Risk Factors in Tribal Population of India: a Multi-Centric Cross-Sectional Study.

The prevalence of hypertension is increasing in the tribal population of India. Lifestyle modifications, including dietary changes and acculturation, are the main reasons for the high prevalence of hypertension among the Indian indigenous (tribal) population. This paper reports hypertension prevalence, awareness, treatment, control and risk factors among tribes in five districts of different geographical zones of India.

Echocardiography protocol and cardiometabolic phenotyping in Indian birth cohorts-the IndEcho study.

Background: Asian Indians are at higher risk of cardiometabolic disease compared to other ethnic groups, and the age of onset is typically younger. Cardiac structure and function are poorly characterized in this ethnic group. In this study, we describe image-acquisition methods and the reproducibility of measurements and detailed echocardiography characteristics in two large Indian population-based cohorts (the New Delhi and Vellore Birth Cohorts) from India.

Predictors of Delayed Hyponatraemia After Surgery for Pituitary Tumour.

Delayed hyponatraemia(DH) is a common complication following trans-sphenoidal surgery(TSS) for pituitary tumour. We evaluated the prevalence of DH following TSS, and assessed the factors associated with DH, including early post-operative diabetes insipidus(EPDI). This retrospective study included 100 TSS for pituitary tumours in 98 patients, over a period of 26 months.

A Rare Case of Primary Hyperparathyroidism Presenting as a C2 Brown Tumor-Plain Radiography Has yet again Proved Indispensable in Clinching the Diagnosis.

A brown tumor is one of the manifestations of hyperparathyroidism. It is a rare type of bone lesion that most often occurs in mandible, ribs, and large bones. Spinal involvement is extremely rare.

SPINA Carb: a simple mathematical model supporting fast in-vivo estimation of insulin sensitivity and beta cell function.

Modelling insulin-glucose homeostasis may provide novel functional insights. In particular, simple models are clinically useful if they yield diagnostic methods. Examples include the homeostasis model assessment (HOMA) and the quantitative insulin sensitivity check index (QUICKI).

Weight Stigma in Patients With Obesity and Its Clinical Correlates: A Perspective From an Indian Bariatric Clinic.

Introduction Obesity being a global epidemic, currently has several adverse health outcomes. Weight stigma is a significant barrier to delivering quality services and also impairs clinical progress. We intended to study the association of stigma with demographic and clinical variables in obese patients to identify the obstacles in treatment-seeking, so stigma could be adequately addressed to improve clinical outcomes.

Cathepsin K Mutation-A Subtle Clinical Presentation.

Context: Pyknodysostosis is an uncommon inherited disorder associated with consanguinity, often presenting with sclerotic bone disease, short stature, dysmorphic features, and recurrent fragility fractures at an early age.

Case: A 34-year-old woman was evaluated for the cause of recurrent fragility fractures. She was born of a third-degree consanguineous marriage and had a twin brother who was of short stature.

Comprehensive evaluation of patterns of hypoglycemia unawareness (HUA) and glycemic variability (GV) in patients with fibrocalculous pancreatic diabetes (FCPD): A cross-sectional study from South India.

Objectives: Hypoglycemia unawareness (HUA) in patients with FCPD is common with an unclear etiology. We evaluated the prevalence, characteristics of HUA, glycemic variability (GV), its possible association with pancreatic glucagon secretion & cardiac autonomic function in patients with FCPD.

Methods: A two-week ambulatory glucose profile (AGP) and cardiac autonomic function test was done in patients with FCPD (n = 60), and categorized into UNAWARE (n = 44) and AWARE (n = 16) groups based on the Hypoglycemia Unawareness Index (HUI) score.

Standard Clinical Screening Tests, Sural Radial Amplitude Ratio and F Wave Latency Compared to Conventional Nerve Conduction Studies in the Assessment of Sensorimotor Polyneuropathy in Patients with Type 2 Diabetes Mellitus.

Background And Aims: The measuring tools used for assessment of neuropathy include various questionnaires, monofilament testing, Biothesiometry and the gold standard test, nerve conduction studies (NCS). This study aims to evaluate the diagnostic accuracies of Michigan Neuropathy Screening Instrument (MNSI), Biothesiometry, Semmes Weinstein Monofilament (SWMF), Sural Radial Amplitude Ratio (SRAR) and minimal F wave latency as compared to conventional NCS and arrive at a simple diagnostic algorithm for early detection of Diabetic Peripheral Neuropathy (DPN).

Methods: In a cross-sectional observational study on 48 Type 2 diabetes mellitus patients, MNSI, Biothesiometry, SWMF and NCS including F waves and SRAR were done and diagnostic accuracies (sensitivity, specificity, positive and negative predictive values) calculated taking NCS as gold standard.

Barker Hypothesis and Hypertension.

Early onset hypertension is one of many major medical disorders that have evolved over the current millennium across both the developing as well as the developed world. Though various mechanisms have been postulated for the evolution of hypertension in these individuals, one of the most relevant ones is that of low birth weight and its association with hypertension. Barker from historical evidence has postulated the foetal onset adult disease (FOAD) or Thrifty phenotype on Low Birth Weight (LBW) associated hypertension.

Does hip structural analysis confer additional benefit to routine BMD assessment in postmenopausal women with hip fracture? A study from a tertiary center in southern India.

Unlabelled: This study from southern India showed that proximal hip geometry was significantly impaired in postmenopausal women with femoral neck fracture. The trabecular bone score (TBS), which is reflective of bone microarchitecture, was also significantly impaired in patients with fracture.

Introduction: There is limited information with regard to comprehensive bone health in Indian postmenopausal women with neck of femur fracture.

Diabetes Mellitus With Renal and Müllerian Anomalies.

Objective: Maturity-onset diabetes of the young (MODY) type 5 is caused by an autosomal dominant mutation in the gene. Our objective was to report a case of a young girl with bicornuate uterus and recurrent renal stones with diabetes mellitus (DM) without a family history that was diagnosed to be MODY 5.

Case Report: A 12-year-old girl presented with recurrent renal stones that were managed with lithotripsy and double-J stenting at various time points.

Differentials in dietary intake of macro and micronutrients in patients with type 2 diabetes and foot ulcers: Observations from a pilot study.

Background And Aim: The dietary profiles of patients with type 2 diabetes mellitus (T2DM) from Southern India have been infrequently studied. We aimed to study the differences in dietary intake of macro and micronutrients in elderly patients of Type 2 diabetes mellitus (T2DM), with and without foot ulcers.

Methods: Elderly patients with T2DM and foot ulcers (n = 79; mean age: 60.