ESPE Yearbook of Paediatric Endocrinology

World J Diabetes. 2020;11(10):400–415. doi: 10.4239/wjd.v11.i10.400Based on a review of the proposed mechanisms of the development of T1DM, the authors provide an overview of oral tolerance therapies for T1DM conducted in both animal models and clinical trials. This key paper also outlines its future perspectives.As a mainly T cell-mediated autoimmune disease, T...

To read the full abstract: J Biol Chem. 2020;295:6876–6887.In this experimental study, Morishita et al. developed a CRISPR/Cas-9 mediated cell model to investigate the molecular effects of thyroglobulin (TG) accumulation in the endoplasmatic reticulum (ER) of thyrocytes, as is observed in the context of dyshormonogenic CH caused by TG gene mutations. TG accumulation in the ER is a result of TG mutations altering t...

To read the full abstract: Pediatr Blood Cancer. 2019 Oct;66(10):e27927. yeh@mmh.org.twThis monocentric observational study analysed the efficacy of denosumab in addition to calcium and vitamin D supplementation on bone mineral density (BMD) in 113 young childhood cancer survivors (CCS) with initial BMD Z -score < –1.5.Low BMD is common in CCS, due to cancer-related fac...

To read the full abstract: NeuroImage 2017; 159: 236-247The results of this study suggest that, compared to adolescents with a low risk, lean adolescents with a high familial obesity risk show a weaker activation of neural systems subserving attentional self-regulation in response to food-denoting words. These same changes were found in overweight or obese adolescents. It is interestin...

Brief Summary: This pilot study assessed the feasibility and impact of continuous glucose monitoring (CGM) in 9 adolescents with T2D. CGM use lowered HbA1c by up to 3.8% in participants who consistently used the device.Comment: Large cohort studies investigating complications in children and adolescents with T2D have clearly shown a higher incidence of complications compared to both adults with T2D and children with type 1 diabetes (T1D). These complicat...

Brief Summary: This cohort study identified genetic variants associated with thyroid dyshormonogenesis as a cause of congenital hypothyroidism in Southern Taiwan. It reviewed 876 CH patients diagnosed between 2011 and 2022 and examined the genetic etiology in 47 cases of TDH using whole-exome sequencing (WES).The etiology of congenital hypothyroidism (CH) can be attributed to either thyroid dysgenesis (TD) or thyroid dyshormonogenesis (TDH) with TD usual...

To read the full abstract: Pediatrics 144, number 4, October 2019:e20182984Diagnostic delays in the pediatric emergency department (ED) can lead to unnecessary interventions, prolonged length of hospital and emergency department stay (LOS) and even death. This is especially true in diabetic patients presenting with possible diabetic ketoacidosis (DKA). At one institution, DKA determination time (from arrival to diagnosis) was 86 minutes, and 61%...

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...

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...

J Clin Psychiatry 2018;79.DOI: 10.4088/JCP.17m11607Summary: In a population-based prospective cohort study, based on the Taiwan National Health Insurance Research Database, 35,949 adolescents and young adults with attention-deficit/hyperactivity disorder (ADHD) had a higher risk of developing T2DM and had a shorter duration between enrollment and onset of T2DM ...