ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Nat Commun. 2018;9:4455.Here, the largest genome-wide association study (GWAS) to date on thyroid function and dysfunction, in 72,167 individuals testing 8 million genetic variants, substantially increased the number of loci that are involved in the regulation of thyroid function. It provides functional evidence that two newly identified genes are involved in t...

To read the full abstract: Cancer. 2018;124:2220-2227The Brief Coping Orientation to Problem Experience (brief COPE) questionnaire was designed to explore the coping strategies used by individuals in response to stress. It has been used to research various populations with chronic health conditions (1). ‘Betweenness centrality’ is a measure of centrality in a graph based on shortest path...

To read the full abstract: J Clin Invest 2020;130(4):2001–16.In this study, Perry et al used their well-established animal model of fasted rats to unravel how feeding induces hyperthermia and energy expenditure.They showed that intracerebroventricular injection of leptin normalized fasting induced low plasma epinephrine and norepinephrine levels and body temperat...

To read the full abstract: J Pediatr Endocrinol Metab 2018; 31(6):601-608This article summarizes the findings of likely the largest program of neonatal congenital hypothyroidism (CH) screening in the world. This is a truly impressive effort. The overall incidence of CH was 1/2421, in line with other reports that also observed a relatively high incidence of CH in neonates born in Asia. However, a...

Brief summary: The authors used data from the Global Burden of Disease 2019 to examine the incidence, disability adjusted life years and mortality of early onset type 2 diabetes T2D) in those 15–39 years of age. This showed that early onset T2D is a growing global health problem in adolescents and young adults, particularly in low-middle- and middle-income countries.Early onset of type 2 diabetes (T2D) is associated with longer lifetime exposure hyp...

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: Inflamm Bowel Dis. 2017;23:967-975Approximately one-third of children and adolescents with Crohn disease (CD) suffer from growth failure and delayed puberty, leading in some to psychological and social dysfunction, especially in boys. Pubertal delay in CD may also impact the normal growth spurt and lead to short adult height. The aim of therapy in children with C...

Nat Commun. 2022 Feb 9;13(1):775. doi: 10.1038/s41467-022-28120-2. PMID: 35140214Brief Summary: This in vitro study identified interactions between distinct cell populations of the thyroid gland and immune cells in the context of Hashimoto thyroiditis. The authors provide important new insights into the pathological mechanism of Hashimoto thyroiditis by characterizing the stromal ...

Abstract: Nature. 2018 Oct;562(7725):133–139.In brief: A newly discovered periosteal stem cell pool with features distinct from other skeletal mesenchymal stem cells (MSCs) is present in murine and human bone and reveals a pivotal function in intramembranous ossification, cortical bone architecture and fracture healing in conditional knockout mouse strains.</st...

To read the full abstract: Lancet 2017;390:1664-1675Whoever could have imagined that a compound discovered as being secreted by enteroendocrine cells in the gut could have a role in treating Parkinson’s disease? GLP-1 does indeed have diverse actions on several peripheral organs (including tongue, stomach, adipose tissues, muscle, pancreas and liver) and on the brainstem to regulate...