PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy

International audience; Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome is a developmental disorder with an unknown genetic cause and hallmarks that include insulin resistance and lack of subcutaneous fat. We ascertained two unrelated individuals with SHORT syndrome, hypothesized that the observed phenotype was most likely due to de novo mutations in the same gene, and performed whole-exome sequencing in the two probands and their unaffected parents. We then confirmed our initial observations in four other subjects with SHORT syndrome from three families, as well as 14 unrelated subjects presenting wi…

Salivary composition in obese vs normal-weight subjects: towards a role in postprandial lipid metabolism?

In the pathophysiological context of obesity, oral exposure to dietary fat can modulate lipid digestion and absorption but underlying in-mouth mechanisms have not been clearly identified. Therefore we tested the hypothesis that salivary components related to dietary fat sensitivity would differ according to BMI and postprandial lipid metabolism in young men. Saliva was collected from 9 normal-weight (BMI=22.3±0.5 kg/m2) and 9 non-morbid obese (BMI=31.7±0.3 kg/m2) men before a 8 h-postprandial metabolic exploration test involving the consumption of a 40 g fat-meal, in which obese subjects revealed a delayed postprandial lipid metabolism. Nine salivary characteristics (flow, protein content, …

3 years of liraglutide versus placebo for type 2 diabetes risk reduction and weight management in individuals with prediabetes: a randomised, double-blind trial

Background: \ud Liraglutide 3·0 mg was shown to reduce bodyweight and improve glucose metabolism after the 56-week period of this trial, one of four trials in the SCALE programme. In the 3-year assessment of the SCALE Obesity and Prediabetes trial we aimed to evaluate the proportion of individuals with prediabetes who were diagnosed with type 2 diabetes.\ud \ud Methods: \ud In this randomised, double-blind, placebo-controlled trial, adults with prediabetes and a body-mass index of at least 30 kg/m2, or at least 27 kg/m2 with comorbidities, were randomised 2:1, using a telephone or web-based system, to once-daily subcutaneous liraglutide 3·0 mg or matched placebo, as an adjunct to a reduced-…

40(th) EASD Annual Meeting of the European Association for the Study of Diabetes : Munich, Germany, 5-9 September 2004