ESPE Yearbook of Paediatric Endocrinology

Proc Natl Acad Sci USA 2021 Feb 23;118(8):e2019152118. Abstract: https://pubmed.ncbi.nlm.nih.gov/33597301/In brief: Sox9 is the key transcription factor and master regulator of chondrocyte differentiation during skeletal development. This paper demonstrates that SOX9 also has a key role during postnatal life to maintain open growth plates and healthy articular cartilage by preventi...

J Pediatr. 2021 Mar 5;S0022-3476(21)00211-0. https://pubmed.ncbi.nlm.nih.gov/33676932/The authors analysed BMI data from 10.8 million children and adolescents from the PEDSnet database (USA), collected longitudinally between 1999-2019, to examine the tracking of various BMI metrics (BMIz, BMImz, BMIz extended, %BMIp95, %BMIp50,%BMIp50 adjusted| calculated according to CDC growth char...

To read the full abstract: Trans Vis Sci Tech. 2019; 8(3):29. doi: 10.1167/tvst.8.3.29• This study investigates the feasibility of acquiring diagnostic quality fundus photographs in children using a child-friendly smartphone.• Photographs were acquired in 43 patients (mean age 6.7 years) with i.e. retinoblastoma, Coats’ disease, commotio retinae and optic nerve hypoplasia.•...

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...

J Clin Endocrinol Metab 2021; 106(5): e2063–e2077.https://pubmed.ncbi.nlm.nih.gov/33527139/The authors report the findings of a 6-month, randomized, phase 3 trial, with a single arm extension, to investigate the efficacy, safety and tolerability of modified release hydrocortisone (MC-HC) replacement therapy versus standard glucocorticoid replacement therapy in 122 adult patients with c...

Nat Med, 2021 Jun;27(6):1088–1096. 10.1038/s41591-021-01349-y. https://pubmed.ncbi.nlm.nih.gov/34045736/This paper reports the high prevalence of MC4R loss-of-function (LoF) variants in a normal population and their large impact on longitudinally assessed anthropometric traits from birth to young adult life.Th...

Cell Rep. 2022 Jan 25;38(4):110298. doi: 10.1016/j.celrep.2022.110298Brief Summary: This study describes the cryo-EM structure of human ATP Binding Cassette Subfamily G Member 1 (ABCG1) in complex with cholesterol. The authors propose a structural mechanism whereby cholesterol is recruited from cell membranes by sphingomyelin and loaded on nascent HDL particles.ABC...

Nat Metab. 2021;3(4):523-9. doi: 10.1038/s42255-021-00383-x.PubMed ID: 33846643Brief summary: this study of around 1000 adults administered standard breakfast meals and showed wide variability and continuously monitored glucose levels up to 3 h afterwards. Notably, those individuals with lower glucose levels at 2 to 3 h after meals reported higher levels of appetite and consumed hundreds m...

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 Haematol. 2019 Jun; 6(6): e306.The St Jude Lifetime (SJLIFE) Cohort is a retrospective cohort of childhood cancer survivors (CCS), who are followed prospectively in order to evaluate long-term health outcomes. This study evaluated chronic health conditions in 980 childhood lymphoblastic leukaemia survivors of the SJLIFE cohort, compared to 272 matched co...