ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Endocrinology, April 2020, 161(4):1–18The aim of this study was to examine the role of growth hormone (GH) on gut microbiome and intestinal phenotype by using two animal models characterized by an opposite GH status: GH gene-disrupted (GH-/-) mice, characterized by GH deficiency; and bovine GH transgenic (bGH) mice with chronic GH excess. The abundance of common bacterial genera, such as Parasutterella, Ruminococc...

To read the full abstract: Cell. 2019;179, 1–17. doi: https://pubmed.ncbi.nlm.nih.gov/31761534/The current study demonstrates that primary cilia, which are present on all adult mesenchymal stem cells including preadipocytes, play a major role in adipogenic differentiation. Using a transgenic mouse model where all preadipocytes were devoid of cilia, they could elegantly show that cilia ...

To read the full abstract: Lancet Glob Health 2020; 8: e730–36. doi: 10.1016/S2214-109X(20)30104-2• Sustainable Development Goals (SDG) were adopted by United Nations Member States in 2015. Universal health coverage is at the centre of SDG #3 but lacks metrics that make it possible to assess how effective the provided healthcare is.• WHO and UNICEF convened a group of ...

Abstract: N Engl J Med. 2019;380(12):1150–1157. PMID: 30893535.In brief: Homozygous deletion of the group-specific component (GC) gene that encodes for vitamin D–binding protein causes persistently low measurable 25-hydroxy Vitamin D concentrations with no clinical features of rickets or osteomalacia.Comment: Vitamin D and ...

Brief Summary: This paper reviewed the toxicity of radiation therapy (RT) on ovarian, uterine and vaginal tissue in childhood cancer survivors (CCSs), using data published from 1970 to 2017. Overall, 11 studies reported data on ovarian damage, 8 on uterine volume related to treatment, and 3 on vaginal effects. Most studies did not report accurate dosimetric data and dose-volume relationships, and the confounder role of chemotherapy was not considered. In general, published dat...

Abstract Link: Nat Genet. 2019 Jan;51(1):96–105.In brief: Gain-of-function mutations altering DNMT3A are identified as a new cause of microcephalic dwarfism. Modelling of the disease in mice show that the mutations abrogate DNMT3A binding to H3K36me2 and H3K36me3 and lead to aberrant DNA methylation of Polycomb-marked regions and therefore repression ...