ESPE Yearbook of Paediatric Endocrinology

Brief summary: In this experimental study, a transdermal polymeric microneedle (MN) patch for glucose-responsive closed-loop insulin and glucagon delivery was developed. In chemically-induced type 1 diabetes (T1D) mouse and minipig models, this glucose-responsive dual-hormone MN patch demonstrated tight regulation in blood glucose.The interplay between insulin and glucagon is essential for blood glucose regulation in individuals with or without diabetes....

Nat Commun. 2021 May 11;12(1):2677. doi: 10.1038/s41467-021-22859-w. PMID: 33976139This work generated an integrated single nucleus multi-omics resource to elucidate the epigenetic mechanisms that regulate transcriptional networks in the murine pituitary. The authors identified epigenetically defined cell type composition, cell type-specific and sex-specific differences in transcription...

Atherosclerosis. 2021 Feb;319:108–117. doi: 10.1016/j.atherosclerosis.2021.01.008. PMID: 33508743.In brief: This multi-centre study included 2866 children with familial hypercholesterolemia (FH) from 8 European countries. The mutation spectrum was assessed, as were associations between gene mutations and clinical characteristics and pre and post-treatment lipid ...

Thyroid. 2022 Apr;32(4):459-471. doi: 10.1089/thy.2021.0535. PMID: 35044245Brief Summary: This study combines animal model and patient cohort data on the effect of hyperthyroidism and hypothyroidism at birth on adrenal gland development and function. The data revealed reciprocal effects of neonatal hyper- and hypothyroidism on adrenal development, activity of the adrenal steroidogenic pathway a...

To read the full abstract: J Clin Invest 2019;129:5187–5203.In brief: This report establishes inhibition of salt-inducible kinases as a central mechanism by which the parathyroid hormone 1 receptor (PTH1R) exerts its effects in both growth plate chondrocytes and osteoblasts/osteocytes during skeletal development, growth, and remodelling.Commentary</e...

To read the full abstract: Science 2020; 367(6484):eaay5012.These authors sequenced 929 whole-genome sequences from 54 geographically, linguistically, and culturally diverse human populations, as part of the Human Genome Diversity Project, a panel of global populations. The data represent African, Oceanian, and American-Indian populations. They identified 67.3 million single-nucleotide polymorphisms (SNPs), 8.8 million small insertions or deleti...

To read the full abstract: Nat Commun 2019;10:343This paper reports many loci associated with chronotype (i.e. being a ‘morning person’ or ‘evening person’) in a genome-wide association study (GWAS) of 697, 828 participants from the UK Biobank and 23andMe cohorts. The link between chronotype and sleep timing and quality is well known. It was therefore interestin...

To read the full abstract: Am J Hum Genet. 2019 May 2;104(5):985–989.This study reports the identification of a novel gene that is involved in the regulation of the pancreatic development.Understanding the molecular mechanisms of pancreatic development is important, for example to guide the progress of beta-cell replacement therapy for patients with Type 1 dia...

To read the full abstract: Nat Genet 2018;50:1542–1552The authors analyse whole blood samples collected in participants of the Icelandic deCODE genetics studies in order to distinguish maternal genotype versus paternal genotype effects on gene expression and methylation in blood. The results provide a new map of imprinted methylation and gene expression patterns across the human gen...

To read the full abstract: Nat Med. 2019 Mar;25(3):439–447.Prenatal screening for trisomy 21, trisomy 18, trisomy 13, and sex chromosome aneuploidies can be performed using next-generation sequencing of cell-free DNA (cfDNA) in the maternal circulation. This article describes a new non-invasive prenatal screening (NIPS) approach for the detection of de novo or paternally inheri...