ESPE Yearbook of Paediatric Endocrinology

s.molinari3@campus.unimib.it Eur J Endocrinol. 2021; 185: 717-728. PMID: 34519276.Brief Summary: This retrospective study, involving two Italian centers, enrolled post-pubertal female patients who had been treated with gonadotoxic therapies for hematological malignancies and/or hematopoietic stem cell transplantation (HSCT) before the age of 18 years. Several studies have r...

patricia.iozzo@ifc.cnr.it Int J Obes (Lond) 2022, 46(1):50–58. doi: 10.1038/s41366-021-00941-zBrief Summary: This experimental study was conducted with fa/fa rats that have a homozygous defect in the leptin receptor and therefore severe leptin resistance. The animals develop extreme obesity, diabetes and metabolic syndrome. The study of y...

yufang@mail.xjtu.edu.cn Front Pharmacol 2022 13:820621. doi: 10.3389/fphar.2022.820621Brief Summary: This national cross-sectional survey in Pakistan found poor availability of insulin in the public sector, even for brands manufactured by domestic companies.Access to insulin remains a major issue worldwide in low- and middl...

Nat Hum Behav. 2022;6(1):43-54. doi: 10.1038/s41562-021-01196-4.PubMed ID: 34504299Brief summary: This study analysed a large database of emails, calendars, instant messages, video/audio calls and workweek hours routinely generated by 61 182 US Microsoft employees in the months before and after 4th March 2020, when the company mandated that all non-essential employees change to full-time w...

To read the full abstract: Nature. 2020;578:627–630.In this extensive work, Coscia et al. determined the molecular architecture of the full-length human thyroglobulin (TG) at high resolution by cryo-electron microscopy and identified the four hormonogenic tyrosine residues which act either as mono- or di-iodotyrosine acceptor and donor sites (A-D) and allow the ultimate step of thyroid hormone synthesis – coupling of two di- o...

To read the full abstract: J Clin Endocrinol Metab. 2020 Mar 1;105(3):dgaa037.This study aimed to assess the frequency of natriuretic peptide receptor type B gene (NPR2 ) variants in 87 children with familial short stature (FSS) and evaluate their response to GH therapy. By applying whole-exome or custom-targeted NGS panel sequencing, NPR2 variants were found in 5 children (5.7%) belonging to 4 families. These variants were cla...

To read the full abstract: J Bone Miner Res. 2019;34(12):2171–2182.In brief: The effect of RANKL inhibition on fibrous dysplasia development is explored here using a mouse model of a fibrous dysplasia-like disorder. Anti-mouse RANKL monoclonal antibody treatment prevented the development and growth of lesions. However, after discontinuation of anti-mouse ...

To read the full abstract: Pediatr Blood Cancer. 2020, Apr; 67: e28169. doi: https://www.ncbi.nlm.nih.gov/pubmed/32020769This thought-provoking paper looked at the malignancy risk in DSD from a different perspective. In this study, patients with malignant germ cell tumors (GCT) were identified in registries of pediatric GCT treatment from 1995 to 2005 and were then cross-referenced with ...

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...

To read the full abstract: Pediatr Blood Cancer. 2020 Mar;67(3):e28106. ebrignardello@cittadellasalute.to.itPremature aging has been proposed as a paradigm to explain the early cardiovascular disease (CVD) that affects young-adult childhood cancer survivors (CCS). Protein glycation is recognized as one of the main factors contributing to aging. Advanced glycation end products (AGEs) are a...