ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: N Engl J Med. 2019;381(7):637–46. doi: 10.1056/NEJMoa1903822Short summary: Liraglutide is superior to placebo in improving glycaemic control in children and adolescents with T2DM.Comment: Liraglutide is a glucagon-like peptide-1 (GLP-1) receptor agonist, also known as an incretin mimetic. It causes glucose-dependent sti...

To read the full abstract: Diabetes Care 2020;43(1):187–95. doi: 10.2337/dc19-0708Short summary: Over 5 years follow-up, bariatric surgery compared with medical treatment resulted in dramatic attenuation of diabetic kidney disease (DKD) in adolescents with T2DM and severe obesity, beyond the impact of improved glycaemic control and weight loss.Comment</em...

To read the full abstract: Science 2019;366(6464):447-53. doi: 10.1126/science.aax2342Short summary: Dissecting racial bias in health care systems revealed that a type of software program, which determines who receives access to high-risk health care management, routinely accepts healthier whites ahead of blacks who are less healthy.Comment: The yea...

To read the full abstract: Mol Genet Genomic Med. 2019;7(11):e956. doi: 10.1002/mgg3.956Short summary: Nine boys with Fragile X syndrome (FXS), aged between 2 to 7 years old, received off-label treatment with metformin for at least 3 months. Language development and behaviour improved in the majority of children. A controlled trial of metformin in very young children with FXS, whose brai...

To read the full abstract: N Engl J Med. 2020;382(16):1520–30. doi: 10.1056/NEJMoa1913805Short summary: Inclisiran (a small interfering double-stranded RNA against PCSK9) is superior to placebo in reducing LDL-C among individuals with heterozygous Familial Hypercholesterolemia who are already on statins and ezetimibe.Comment: Proprotein convertas...

To read the full abstract: Nature Genetics 2018; 50: 26–41These authors combined data from 125 cohorts comprising more than 700,000 individuals to discover rare and low-frequency (R/LF) coding single nucleotide variants (SNVs) associated with BMI, thereby identifying novel potential targets for the treatment of obesity. They identified 14 R/LF coding SNVs in 13 genes associated with...

Brief Summary: This multi-ancestry genetic analysis including ~800,000 women, identified 1,080 signals for age at menarche, explaining 11% of trait variance.Age at menarche is a highly polygenic trait which varies widely among individuals (4-5 years)1. Recent genome wide association studies, mostly conducted in subjects of European ancestry, have identified several hundred of loci corresponding to ~ 25% of the hereditability2-5....

In Brief The authors report a genome-wide association study (GWAS) on Type 2 diabetes (T2D), including data from 2 535 601 individuals (39.7% non-European ancestry), including 428 452 with T2D. They identify 1,289 independent GWAS signals (at P < 5×10−8), of which 145 loci are novel. These genetic signals cluster into 8 groups, with differing cardiometabolic trait associations and differing cell-specific profiles of gene activation (open chro...

To read the full abstract: Nature 2020; 581, 434–443The Genome Aggregation Database (gnomAD) Consortium https://gnomad.broadinstitute.org compiled data on ˜125,000 exomes and ~15,000 whole genomes from populations around the world. This is one of seven articles (also see Refs 1–6) describing their initial discoveries, showing the power of this vast dataset, and presenting a more comp...

Cell. 2018; 175(2): 514–29 e20.URL: http://www.ncbi.nlm.nih.gov/pubmed/30220461Summary: The enigma of how cholesterol is transported within cells has been solved in these experimental mouse models and structural imaging studies by the discovery of the proteins Aster A, B and C, which serve as a molecular bridge for the transfer of cholesterol from the pl...