ESPE Yearbook of Paediatric Endocrinology

Brief summary: In this longitudinal study, blood glucose trajectories and their relationship with autoantibodies appearance were assessed in 1050 children with high genetic risk of type 1 diabetes (T1D) between 4 months and 3.6 years. Post-prandial blood glucose levels increased around 2 months prior to autoantibody seroconversion, with further increases thereafter, suggesting that islet autoimmunity co-occurs or follows insults on the β-cells.This ...

Brief summary: using a murine model of diabetes and ex vivo experiments in human T-cell cultures, this study showed that short-term administration of an antagonist to the receptor for advanced glycation end products (sRAGE) modulates functional T regulatory cells (Treg) expansion and thus prevents diabetes.This study provides further support for a role of the advanced glycation end-product (AGEs)-AGE receptor (RAGE) pathways in the pathogenesis ...

Brief summary: This paper describes 18 patients with bi-allelic leptin deficiency (LEP, n=11) or leptin receptor deficiency (LEPR, n=7), including 10 new cases and two novel variants. In addition, in a review of the literature (until July 2022), the authors identified n=75 patients living with LEP deficiency and n=90 with LEPR deficiency (n=152 included for comparison between groups).<p class=...

Brief summary: An analysis of contraception data in 204 countries and territories between 1970 and 2019 shows that 162.9 million women had unmet needs for contraception (65.5% in sub-Saharan Africa and in south Asia). Demand was not satisfied for 64.8% of women aged 15–19 years, the highest proportion of any age group.This study included women aged 15–49 years and analysed contraceptive prevalence rate (CPR) and ‘demand satisfied’. We...

Brief summary: This basic science study in mice shows how melanocortin neurons integrate reproductive signaling with energy homeostasis. In melanocortin neurons, estradiol (E2) enhances the anorectic action of leptin. Cited1 is enriched in these neurons and its loss exacerbates diet-induced obesity in female mice. Using several specific mouse models it is demonstrated how hypothalamic Cited1, via ERα and Stat3 interactions, link the effects of E2 and leptin on food intake...

Brief summary: This observational study in three different cohorts found an increased risk for atherothrombotic disease associated with the commonly used sugar substitute erythritol. Untargeted metabolomics (in cohort 1, n=1157) and targeted metabolomics (in cohorts 2 and 3, n=2149 USA and n=833 Europe, respectively) investigations revealed an increased risk for major adverse cardiovascular events (MACE) including death, myocardial infarction and str...

Elife. 2020 Oct 16;9:e55212 Abstract: https://pubmed.ncbi.nlm.nih.gov/33063669/In brief: In some species, growth plate and articular cartilage are not separated by secondary ossification centers. Here, the authors used mathematical modeling, ex vivo models and biophysical tests and indirectly demonstrate that secondary ossification centers evolved in order to protect the g...

Nat Med. 2021 Nov;27(11):1928-1940. doi: 10.1038/s41591-021-01502-7. PMID: 34663987.Brief Summary: This clinical study characterised the spectrum of novel diabetes phenotypes due to mutations in the Transcription factor One Cut Homeobox 1 (ONECUT1)/hepatocyte nuclear factor 6 (HNF6). The study uncovers novel forms of diabetes mellitus due to mutations in ONECUT1.<p cl...

Science. 2021;373(6557):871-6. doi: 10.1126/science.abj8754 PubMed ID: 34282049Brief summary: This study reveals a Deep Learning method, ‘RoseTTA fold’, based on DeepMind’s Alphafold2 framework, to predict 3-dimensional protein structures from 1-dimensional sequence information and generate models of protein–protein complexes with high accuracy.Previ...

To read the full abstract: Nature 2017;550:255-259Loss of appetite, and even aversion to food, is a common experience during periods of illness (e.g. infection and pyrexia) and/or treatment (e.g. chemotherapy). This responses is distinct from the body’s homeostatic mechanisms (the hypothalamic leptin receptor-AGRP-POMC-MC4R axis), which normally regulate appetite and weight gain in ch...