ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Nature Communications 2018;9:636We know that good nutrition early in life has profound and long-lasting effects on body weight in later life. Malnutrition during pregnancy or infant formula feeding may be stored on the offspring genome as epigenetic memory and persist into adulthood, thereby influencing the susceptibility to metabolic diseases, such as obes...

To read the full report: https://www.fda.gov/NewsEventsThe report, issued by the U.S. National Toxicological Program (NTP), presents the initial results of a multimillion dollar study conducted for more than 5 years by scientists at FDA’s National Center for Toxicological Research. It looked at the effects of different doses of BPA evaluating chronic and e...

Reports Medicine 2021;2(11):100446. doi: 10.1016/j.xcrm.2021.100446Brief Summary: This mouse study validated a novel, safe treatment with ANGPTL3 peptide vaccine. It was effective to improve obesity-induced dyslipidemia and fatty liver in mice, and also improved dyslipidemia and atherosclerosis in a mouse model of familial hypercholesterolemia, with no reported toxicity.<p class="abste...

J Biochem. 2020 Sep 1;168(3):305-312. doi: doi: 10.1093/jb/mvaa050. PMID: 32302394.This study shows that mice mitochondrial regulatory gene Mitol-deficient mice display reduced growth in combination with anterior pituitary hypoplasia and reduced growth hormone levels.MITOL encodes a ubiquitin ligase. Ablation of Mitol in nestin-expressing cells ...

Nat Commun. 2020;11:4807. doi: 10.1038/s41467-020-18497-3.This interesting paper illustrates the potential of machine learning to improve the sensitivity and specificity of routine techniques in clinical practice if large cohorts for training and validation of models are used. Yu et al. present a transfer learning model (machine learning approach to solve research problems by r...

Diabetologia. 2019;62(12):2287–2297. doi: 10.1007/s00125-019-04980-0This study identified different circulatory metabolite profiles in children who subsequently progress to T1D compared to children who progress to islet autoimmunity but not T1D, and antibody-negative control children.In addition to altered T cell immunity and autoantibody appearance, metaboli...

Hum Mol Genet. 2022 May 10:ddac093. doi: 10.1093/hmg/ddac093. Online ahead of print. PMID: 35535691Brief Summary: This genome-wide association study (GWAS) of patients with thyroid dysgenesis identified a genetic risk locus for thyroid athyreosis and ectopy. In depth genetic analyses of the disease associated region suggested a new disease mechanism of thyroid dysgenesis mediated by impaired Wnt ...

To read the full abstract: J Clin Invest. 2020 Feb 3;130(2):641–654. doi: 10.1172/JCI127378. PMID: 31845906.Congenital pituitary hypoplasia (CPH) is a multifactorial disorder, in which the pituitary has not developed correctly. The underlying mechanisms are mostly unknown, and studies are limited by the lack of appropriate disease models. This work modelled the effect of a novel OTX2</e...

To read the full abstract: Human Reproduction (Oxford, England) vol. 35, 2 (2020): 257–264. doi: https://academic.oup.com/humrep/article/35/2/257/5709207. https://pubmed.ncbi.nlm.nih.gov/31958337/This randomized controlled trial compares treatment with peroral letrozole or intramuscular low-dose testosterone in ...

To read the full abstract: Disease Models & Mechanisms vol. 13,3 dmm040105. 13 Mar. 2020. doi: https://dmm.biologists.org/content/13/3/dmm040105.longThese authors developed an in vitro model to study human GnRH neuron transcriptome during developmental differentiation. Gonadotropin-releasing hormone (GnRH) neurons in the hypothalamus govern t...