ISSN 1662-4009 (online)

Previous issue | Volume 18 | ESPEYB18 | Next issue

Yearbook of Paediatric Endocrinology 2021

ey0018.14-1 | (1) | ESPEYB18

14.1. Association of vitamin D levels, race/ethnicity, and clinical characteristics with COVID-19 test results

Meltzer David O , Best Thomas J , Zhang Hui , Vokes Tamara , Arora Vineet M , Solway Julian

JAMA Netw Open. 2021;4(3):e214117. 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...

ey0018.14-2 | (1) | ESPEYB18

14.2. Lipocalin-2 is an anorexigenic signal in primates

Petropoulou Peristera-Ioanna , Mosialou Ioanna , Shikhel Steven , Hao Lihong , Panitsas Konstantinos , Bisikirska Brygida , Luo Na , Bahna Fabiana , Kim Jongho

eLife 2020;9:e58949 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 ...

ey0018.14-3 | (1) | ESPEYB18

14.3. Decreasing body lengths in North Atlantic right whales

Stewart Joshua D , Durban John W , Knowlton Amy R , Lynn Morgan S , Fearnbach Holly , Barbaro Jacob , Perryman Wayne L , Miller Carolyn A , Moore Michael J

Current Biology 2021 May 17;S0960-9822(21)00614-X. doi: 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...

ey0018.14-4 | (1) | ESPEYB18

14.4. CRISPR-Cas9 gene editing for sickle cell disease and [beta]-thalassemia

Frangoul Haydar , Altshuler David , Cappellini M. Domenica , Chen Yi-Shan , Domm Jennifer , Eustace Brenda K , Foell Juergen , de la Fuente Josu , Grupp Stephan , Handgretinger Rupert , Ho Tony W , Kattamis Antonis , Kernytsky Andrew , Lekstrom-Himes Julie , Li Amanda M , Locatelli Franco , Mapara Markus Y , de Montalembert Mariane , Rondelli Damiano , Sharma Akshay , Sheth Sujit , Soni Sandeep , Steinberg Martin H , Wall Donna , Yen Angela , Corbacioglu Selim

N Engl J Med 2021; 384:252–260 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...

ey0018.14-5 | (1) | ESPEYB18

14.5. The role of the microbiota in human genetics

Suzuki Taichi A , Ley Ruth E

Science 04 Dec 2020: 370(6521): eaaz6827 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...

ey0018.14-6 | (1) | ESPEYB18

14.6. Whole-genome sequencing of patients with rare diseases in a national health system

Turro Ernest , Astle William J , Megy Karyn , Graf Stefan , Greene Daniel , Shamardina Olga , Allen Hana Lango , Sanchis-Juan Alba , Frontini Mattia , Thys Chantal , Stephens Jonathan , Mapeta Rutendo , Burren Oliver S , Downes Kate , Haimel Matthias , Tuna Salih , Deevi Sri V V , Aitman Timothy J , Bennett David L , Calleja Paul , Carss Keren , Caulfield Mark J , Chinnery Patrick F , Dixon Peter H , Gale Daniel P , James Roger , Koziell Ania , Laffan Michael A , Levine Adam P , Maher Eamonn R , Markus Hugh S , Morales Joannella , Morrell Nicholas W , Mumford Andrew D , Ormondroyd Elizabeth , Rankin Stuart , Rendon Augusto , Richardson Sylvia , Roberts Irene , Roy Noemi B A , Saleem Moin A , Smith Kenneth G C , Stark Hannah , Tan Rhea Y Y , Themistocleous Andreas C , Thrasher Adrian J , Watkins Hugh , Webster Andrew R , Wilkins Martin R , Williamson Catherine , Whitworth James , Humphray Sean , Bentley David R , Kingston Nathalie , Walker Neil , Bradley John R , Ashford Sofie , Penkett Christopher J , Freson Kathleen , Stirrups Kathleen E , Raymond F Lucy , Ouwehand Willem H

Nature 2020; 583: 96–102 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...

ey0018.14-7 | (1) | ESPEYB18

14.7. Inherent mosaicism and extensive mutation of human placentas

Coorens Tim H H , Oliver Thomas R W , Sanghvi Rashesh , Sovio Ulla , Cook Emma , Vento-Tormo Roser , Haniffa Muzlifah , Young Matthew D , Rahbari Raheleh , Sebire Neil , Campbell Peter J , Charnock-Jones D Stephen , Smith Gordon CS , Behjati Sam

Nature 2021; 592: 80–85 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...

ey0018.14-8 | (1) | ESPEYB18

14.8. Mesenchyme-derived IGF2 is a major paracrine regulator of pancreatic growth and function

Hammerle Constanze M , Sandovici Ionel , Brierley Gemma V , Smith Nicola M , Zimmer Warren E , Zvetkova Ilona , Prosser Haydn M , Sekita Yoichi , Lam Brian YH , Ma Marcella , Cooper Wendy N , Vidal-Puig Antonio , Ozanne Susan E , Medina-Gomez Gema , Constancia Miguel

PLoS Genet. 2020; 16(10): e1009069. doi: 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...

ey0018.14-9 | (1) | ESPEYB18

14.9. How to read numbers: a guide to statistics in the news (and knowing when to trust them)

Chivers Tom , Chivers David

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...

ey0018.14-10 | (1) | ESPEYB18

14.10. Corticosterone inhibits GAS6 to govern hair follicle stem-cell quiescence

Choi Sekyu , Zhang Bing , Ma Sai , Gonzalez-Celeiro Meryem , Stein Daniel , Jin Xin , Kim Seung Tea , Kang Yuan-Lin , Besnard Antoine , Rezza Amelie , Grisanti Laura , Buenrostro Jason D , Rendl Michael , Nahrendorf Matthias , Sahay Amar , Hsu Ya-Chieh

Nature 2021; 592: 428–432 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...

ey0018.14-11 | (1) | ESPEYB18

14.11. Ageing hallmarks exhibit organ-specific temporal signatures

Schaum Nicholas , Lehallier Benoit , Hahn Oliver , Palovics Robert , Hosseinzadeh Shayan , Lee Song E , Sit Rene , Lee Davis P , Losada Patricia Moran , Zardeneta Macy E , Fehlmann Tobias , Webber James T , McGeever Aaron , Calcuttawala Kruti , Zhang Hui , Berdnik Daniela , Mathur Vidhu , Tan Weilun , Zee Alexander , Tan Michelle , The Tabula Muris Consortium , Pisco Angela Oliveira , Karkanias Jim , Neff Norma F , Keller Andreas , Darmanis Spyros , Quake Stephen R , Wyss-Coray Tony

Nature 2020; 583: 596–602 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 ...

ey0018.14-12 | (1) | ESPEYB18

14.12. Associations between maternal antenatal corticosteroid treatment and mental and behavioral disorders in children

Raikkonen Katri , Gissler Mika , Kajantie Eero

JAMA. 2020; 323(19): 1924-1933. 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...

ey0018.14-13 | (1) | ESPEYB18

14.13. Past extinctions of homo species coincided with increased vulnerability to climatic change

Raia Pasquale , Mondanaro Alessandro , Melchionna Marina , Di Febbraro Mirko , Diniz-Filho Jose A F , Rangel Thiago F , Holden Philip B , Carotenuto Francesco , Edwards Neil R , Lima-Ribeiro Matheus S , Profico Antonio , Maiorano Luigi , Castiglione Silvia , Serio Carmela , Rook Lorenzo

One Earth, Volume 3, Issue 4, 23 October 2020, Pages 480-490 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...

ey0018.14-14 | (1) | ESPEYB18

14.14. The impact of sex on gene expression across human tissues

Oliva Meritxell , Munoz-Aguirre Manuel , Kim-Hellmuth Sarah , Wucher Valentin , Gewirtz Ariel DH , Cotter Daniel J , Parsana Princy , Kasela Silva , Balliu Brunilda , Vinuela Ana , Castel Stephane E , Mohammadi Pejman , Aguet Francois , Zou Yuxin , Khramtsova Ekaterina A , Skol Andrew D , Garrido-Martin Diego , Reverter Ferran , Brown Andrew , Evans Patrick , Gamazon Eric R , Payne Anthony , Bonazzola Rodrigo , Barbeira Alvaro N , Hamel Andrew R , Martinez-Perez Angel , Soria Jose Manuel , GTEx Consortium , Pierce Brandon L , Stephens Matthew , Eskin Eleazar , Dermitzakis Emmanouil T , Segre Ayellet V , Im Hae Kyung , Engelhardt Barbara E , Ardlie Kristin G , Montgomery Stephen B , Battle Alexis J , Lappalainen Tuuli , Guigo Roderic , Stranger Barbara E

Science 2020 Sep; 369(6509): eaba3066 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...