ESPE Yearbook of Paediatric Endocrinology

Abstract: Nat Med. 2019 Apr;25(4):583–590. PMID: 30804514In brief: This study describes the first skeletal dysplasia caused by a mutation in a microRNA that is not simply inactivating, but modifies the repertoire of target genes.Comment: MicroRNAs (miRNAs) are small (20–24 nucleotides) noncoding RNA molecules that post-transcriptio...

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...

Abstract: Nature. 2019 Apr;568(7753):541–545.In brief: Murine knockout studies unravel the developmental origin of osteoclasts in embryonic, erythro-myeloid progenitors, acquiring exceptional longevity by constant fusion with monocytes and rejuvenation of cellular nucleii throughout postnatal life.Comment: Osteoclast function is essentia...

Nat Commun. 2018 Dec 14;9(1):5319.doi: 10.1038/s41467-018-07784-9. PubMed [citation] PMID: 30552336Initial steps in the sex determination of the (human) testis depend on SRY regulating SOX9, but the exact mechanism that controls SOX9 expression remains unknown. These authors discovered four overlapping copy number variations (CNVs) upstr...

To read the full abstract: Proc Natl Acad Sci U S A. 2018; 115(28): E6576–E6584.It is accepted that aggressive behavior can be viewed as a strategy by humans and animals to cope with stress, implying that neurobiological mechanisms involved in stress responses should underlie both physiological and pathological aggression (15, 16). The hypothalamic–pituitary–adrenal ...

N Engl J Med 2019; 10.1056/NEJMoa1903822.DOI: 10.1056/NEJMoa1903822http://www.ncbi.nlm.nih.gov/pubmed/31034184Summary: In a double-blind, randomized, phase 3 trial, 135 overweight and obese adolescents, aged 10 to 17 years with T2DM, were randomly assigned to receive subcutaneous liraglutide (up to 1.8 mg per day) or placebo, bot...

To read the full abstract: Int J Cardiol 2018;272:333–340.Summary: In a multi-center prospective cohort study of 2401 European children, early life exposure to socioeconomic disadvantages, particularly living in low-educated families, having a non-traditional family structure, parental unemployment and the accumulation of >3 disadvantages were associated with higher ris...

To read the full abstract: N Engl J Med 2019;380:23-32.Summary: In this randomized primary prevention placebo-controlled trial of 25,871 US adults, with a two-by-two factorial design, supplements with omega-3 did not lower the overall incidence of adverse cardiovascular events or cancer compared to a placebo.Comment: Omega-3 fatty acids are polyun...

To read the full abstract: N Engl J Med 2019;380:33–44This paper describes a large randomized, placebo-controlled trial of vitamin D3 (cholecalciferol) 2000 IU per day in 25,871 US adults. After median follow-up of 5.3 years, supplementation with vitamin D did not alter the risk of the primary end points, invasive cancer of any type hazard ratio, 0.96; 95% confidence interval [CI], ...

To read the full abstract: Cell. 2018 Oct 18;175(3):665–678.e23.This article reports a critical role for the vagal gut-to-brain axis in motivation and reward amongst the sensory cells of the right vagal nerve. Optogenetic stimulation of the mouse vagal gut-to-brain axis produced reward behaviors. Stimulation of gut-innervating vagal sensory neurons recapped the hallmark effects of s...