ESPE Yearbook of Paediatric Endocrinology

JAMA Netw Open. 2021;4(3):e214117. https://bit.ly/3zopFZ4This prospective observational cohort study (n=4638) measured vitamin D level in the year before undergoing COVID-19 testing. The risk of a positive COVID-19 test in Black, but not White, individuals was 2.64-fold higher if vitamin D level was 30–40 ng/ml compared to > 40 ng/ml.Vitamin D may improve immune functi...

eLife 2020;9:e58949 https://elifesciences.org/articles/58949In the mouse, the osteoblast-derived hormone Lipocalin-2 (LCN2) suppresses food intake and acts as a satiety signal. This study now shows that a meal challenge increases serum LCN2 levels in humans with normal or overweight, but not in those with obesity. Postprandial LCN2 serum levels correlate inversely with hunger sensation in challenged ...

Current Biology 2021 May 17;S0960-9822(21)00614-X. doi: https://doi.org/10.1016/j.cub.2021.04.067The North Atlantic right whale (Narwhale, NARW) is a medium-sized toothed whale that lives year-round in the Arctic waters around Greenland, Canada, and Russia. It possesses a large ‘tusk’ from a protruding canine tooth. NARW born in recent years have experienced stunted growth, and...

N Engl J Med 2021; 384:252–260 https://www.nejm.org/doi/full/10.1056/NEJMoa2031054In the Yearbook, we have been following the CRISPR story since its very beginning. Last year, Emmanuelle Charpentier and Jennifer Doudna were awarded the Nobel Prize in Chemistry for discovering the CRISPR-Cas9 gene editing tool. Here, scientists have published the first successful treatment (as...

Science 04 Dec 2020: 370(6521): eaaz6827 https://bit.ly/3q47CTGThese authors review the human traits and genes that microbiota may have contributed or altered in response to changes in host diet, climate, or pathogen exposure.It is now widely recognized that the microbiota of mammals is a product of coevolution. Nevertheless, humans are different in having a geographically specific micr...

Nature 2020; 583: 96–102https://www.nature.com/articles/s41586-020-2434-2The authors applied whole-genome sequencing (WGS) in 9,802 patients with a rare disease in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. WGS identified the genetic diagnosis in 1138/7065 extensively phenoty...

Nature 2021; 592: 80–85https://www.nature.com/articles/s41586-021-03345-1These authors performed whole-genome sequencing (WGS) of 86 bulk placental samples and of 106 microdissections of placental tissue in order to reconstruct the development of human placental cells from data on somatic mutations. They found that the placenta comprises of multiple very large, genetically dis...

PLoS Genet. 2020; 16(10): e1009069. doi: https://doi.org/10.1371/journal.pgen.1009069The authors used mouse conditional gene knock-out models to investigate the role of Insulin-like growth factor-2 (Igf2) in pancreatic growth and function. When Igf2 was deleted specifically in mesenchyme-derived cells (but not when deleted in exocrine and endocrine cells), the entire pancreas was smal...

Publisher: W&N (18 Mar. 2021). ISBN-10: 1474619967The authors describe this book as ‘a short, practical, timely guide to the tools you need to understand the numbers we read in the news everyday - and how we often get them wrong’.One of the societal consequences of the COVID-19 pandemic has been the rising public interest in numbers and statistics. ‘Armchair experts’ in statistics and epidemiology are no lon...

Nature 2021; 592: 428–432https://www.nature.com/articles/s41586-021-03417-2These authors report that in mice the stress hormone corticosterone (the rodent equivalent of cortisol in humans) acts on dermal papillae to suppress expression of Gas6 (encoding growth arrest specific 6) and thereby cause hair follicle stem cell (HFSC) quiescence and reduced hair growth. They show that...

Nature 2020; 583: 596–602https://www.nature.com/articles/s41586-020-2499-yIn order to understand the cellular processes that underlie ageing, the authors performed plasma proteomics at 10 different ages across the lifespan of the mouse. They integrated these data with a parallel large study published alongside this paper in the same edition (1), which describes the ‘Mouse ...

JAMA. 2020; 323(19): 1924-1933. https://jamanetwork.com/journals/jama/fullarticle/2766162The authors assembled a retrospective population-based cohort using nationwide registries of births and public specialized medical care settings in Finland in order to study whether antenatal corticosteroid treatment is associated with mental and behavioral disorders in children. Antenat...

One Earth, Volume 3, Issue 4, 23 October 2020, Pages 480-490 https://bit.ly/3vFcRueBy integrating past climate and fossil databases, these authors suggest that climate change was the primary factor in the extinction of Homo species.Homo erectus, H. heidelbergensis and H. neanderthalensis all became extinct. Why? And are we going that way too? The authors claim that cli...

Science 2020 Sep; 369(6509): eaba3066https://bit.ly/3wMzM8xBy integrating sex-specific Genotype-Tissue Expression (GTEx) data with gene function and transcription factor binding annotations, these authors describe mechanisms contributing to sex differences in the human transcriptome.Many complex human traits and diseases exhibit sex-specific characteristics. These sex differences have b...