Multiplex PCR coupled with NGS provides a rapid, cost-effective and accurate method for comprehensive parallelized genetic testing of MODY. When compared to earlier reports, we have identified a higher frequency and a novel digenic mutation pattern involving NEUROD1 and PDX1 genes.

Accurate determination of energy expenditure (EE) is vitally important yet often neglected in clinical practice. Indirect calorimetry (IC) provides one of the most sensitive, accurate, and noninvasive measurements of EE in an individual. Over the last couple of decades, this technique has been applied to clinical circumstances such as acute illness and parenteral nutrition. Beyond assessing the nutritional needs, it has also shed light on various aspects of nutrient assimilation, thermogenesis, the energetics of physical exercise, and the pathogenesis of obesity and diabetes. However, because of little or no experience with IC provided during medical education, the benefits of IC are poorly appreciated. Newer technology, cost-effectiveness, and a better understanding of how to interpret measurements should lead to more frequent use of IC. This review focuses on the physicochemical background of IC, the various indications for use, techniques and instruments, potential pitfalls in measurement, and the recent advances in technology that has adapted the technique to long-term studies in humans.

This study highlights the possible heritable parental components that may contribute to the MS phenotype in offspring: MS in adolescent offspring is related to parental MS status, and maternal traits reflect offspring adiposity and metabolic traits more strongly than paternal factors. Therefore, adolescent children of parents with MS should be targets for primordial prevention of cardiometabolic disease.

OBJECTIVE Diabetes among individuals with low BMI (<19 kg/m2) has been recognized for >60 years as a prevalent entity in low- and middle-income countries (LMICs) and was formally classified as “malnutrition-related diabetes mellitus” by the World Health Organization (WHO) in 1985. Since the WHO withdrew this category in 1999, our objective was to define the metabolic characteristics of these individuals to establish that this is a distinct form of diabetes. RESEARCH DESIGN AND METHODS State-of-the-art metabolic studies were used to characterize Indian individuals with “low BMI diabetes” (LD) in whom all known forms of diabetes were excluded by immunogenetic analysis. They were compared with demographically matched groups: a group with type 1 diabetes (T1D), a group with type 2 diabetes (T2D), and a group without diabetes. Insulin secretion was assessed by C-peptide deconvolution. Hepatic and peripheral insulin sensitivity were analyzed with stepped hyperinsulinemic-euglycemic pancreatic clamp studies. Hepatic and myocellular lipid contents were assessed with 1H-nuclear magnetic resonance spectroscopy. RESULTS The total insulin secretory response was lower in the LD group in comparison with the lean group without diabetes and the T2D group. Endogenous glucose production was significantly lower in the LD group than the T2D group (mean ± SEM 0.50 ± 0.1 vs. 0.84 ± 0.1 mg/kg · min, respectively; P < 0.05). Glucose uptake was significantly higher in the LD group in comparison with the T2D group (10.1 ± 0.7 vs. 4.2 ± 0.5 mg/kg · min; P < 0.001). Visceral adipose tissue and hepatocellular lipids were significantly lower in LD than in T2D. CONCLUSIONS These studies are the first to demonstrate that LD individuals in LMICs have a unique metabolic profile, suggesting that this is a distinct entity that warrants further investigation.

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