ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: N Engl J Med. 2020;382(6):525–533.In brief: High dose vitamin D supplementation of 4400 IU compared with 400 IU during the prenatal period alone to mothers of offspring at risk for asthma did not influence the incidence of asthma and recurrent wheeze in children aged 6-years.Commentary: Vitamin D deficiency has been im...

To read the full abstract: Endocrinology. 2017 Jul 1;158(7):2102-2112Gestational diabetes mellitus (GDM) produces fetal hyperglycemia with increased lifelong risks for the exposed offspring to cardiovascular and other diseases. In-utero exposure to GDM alters metabolic programming in newborns and their placenta, cord tissues, and cord blood. Human umbilical cord mesenchymal stromal cells (hUC-MSCs...

To read the full abstract: New Engl J Med 2017; 377:1733-1745We are still unable to reach treatment goals in all children and adolescents with T1DM. The usually earliest microvascular complication developed in adolescents and young adults is microalbuminuria. Therefore this trial focused on the prevention of microalbuminuria in high risk adolescents with an albumin-to-creatinine ratio in the uppe...

To read the full abstract: Diabetes Care. 2017;40:920-927Breast feeding has been identified as one albeit weak protective factor protecting from the development of for example obesity, autoimmune disease and in particular T1DM. The mechanisms of this preventive effect are not known. One explanation might still be a confounding effect of social status, overall healthy lifestyles in the families in who...

Brief summary: In this experimental study, immunomodulatory microparticles, consisting of encapsulating self-antigens with rapamycin, were injected into mouse lymph nodes to protect against type 1 diabetes (T1D) and islet graft rejection. Antigens and rapamycin were both required for maximal efficacy and they induced durable tolerance, accompanied by expansion of antigen-specific regulatory T cells (Treg) in both treated and untreated lymph nodes.Antigen...

In Brief: The authors conducted genome sequencing on 151 mother–father–offspring trios from 68 vertebrate animal species in order to estimate and compare germline mutation rates (GMRs). They found a 40-fold variation in GMR per generation between the species. Higher GMRs were observed in species that have a longer generation time, older age at puberty and fewer offspring per generation.Comment: Mutations in germline DNA during gametogenesis are...

Nat Med. 2022;28(4):814-22. doi: 10.1038/s41591-022-01714-5.PubMed ID: 35314841Brief summary: This study performed large-scale metabolomic profiling across 14 000 adults from 4 cohorts and identified 17 steroid metabolites whose levels were reduced in individuals with prevalent asthma. The largest reductions were associated with inhaled corticosteroid (ICS) treatment, and these were valida...

To read the full abstract: Nat Genet. 2018; 50(3): 349-354See comment on 8.2...

To read the full abstract: Nature 2017;548:413-419Over recent years, the Yearbook has followed the rapid advances in CRISPR-Cas9 gene editing technology, initially as a widely adopted research tool, but also as an emerging form of gene therapy. Here, Ma et al. report the first use of CRISPR–Cas9 to efficiently and safely correct a pathogenic heterozygous mutation in human embryos. The...

To read the full abstract: Lancet 2019;393:747–757. .This large prospective cohort study recruited from 34 UK fetal medicine units to evaluate the use of prenatal whole genome sequencing in 610 fetuses with a structural abnormality detected on antenatal ultrasound scanning and no chromosomal abnormality. Overall, a diagnostic genetic mutation ...