ISSN 1662-4009 (online)

ey0019.14-10 | Risk and Outcome | ESPEYB19

14.10. Childhood cardiovascular risk factors and adult cardiovascular events

DR Jr Jacobs , JG Woo , AR Sinaiko , SR Daniels , J Ikonen , M Juonala , N Kartiosuo , T Lehtimaki , CG Magnussen , JSA Viikari , N Zhang , LA Bazzano , TL Burns , RJ Prineas , J Steinberger , EM Urbina , AJ Venn , OT Raitakari , T Dwyer

N Engl J Med. 2022 May 19;386(20):1877–1888. doi: 10.1056/NEJMoa2109191.Brief summary: This prospective cohort study leveraged data from the International Childhood Cardiovascular Cohorts (i3C) Consortium, including 42 324 participants at baseline and followed-up over a mean of 35 years, in order to investigate associations between cardiovascular risk factors (CVRF, including body-mass ind...

ey0016.3-4 | Thyroid Hormone Action | ESPEYB16

3.4. Non-thyroidal illness syndrome in critically ill children: prognostic value and impact of nutritional management

A Jacobs , I Derese , Perre S Vander , Puffelen E van , S Verstraete , L Pauwels , S Verbruggen , P Wouters , L Langouche , Guerra G Garcia , K Joosten , I Vanhorebeek , Berghe G Van den

To read the full abstract: Thyroid. 2019;29:480–492.The thyroid axis is particularly responsive to critical illness. Adaptation processes of the thyroid axis to critical illness and prolonged fasting are well described as non-thyroidal illness syndrome. Non-thyroidal illness is mainly explained by two mechanisms: 1) peripheral inactivation of T4 to rT3 by decreased type-1 deiodinase...

ey0015.12-4 | New Mechanism | ESPEYB15

12.4 Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms

V Rusu , E Hoch , JM Mercader , DE Tenen , M Gymrek , CR Hartigan , M DeRan , M von Grotthuss , P Fontanillas , A Spooner , G Guzman , AA Deik , KA Pierce , C Dennis , CB Clish , SA Carr , BK Wagner , M Schenone , MCY Ng , BH Chen , M Consortium , STD Consortium , F Centeno-Cruz , C Zerrweck , L Orozco , DM Altshuler , SL Schreiber , JC Florez , SBR Jacobs , ES Lander

To read the full abstract: Cell 2017;170:199-212 e20T2DM has a disproportionate impact on persons of Latin American descent. GWAS in Mexican and other Latin American samples identified a haplotype containing four missense SNPs, all in SLC16A11, that were much more common in individuals with Native American ancestry than in east Asian, European and African samples. The association was stronge...

ey0020.9-2 | New Findings in Adipose Tissue | ESPEYB20

9.2. A single-cell atlas of human and mouse white adipose tissue

M Emont , C Jacobs , AL Essene , D Pant , D Tenen , G Colleluori , A Di Vincenzo , AM Jorgensen , H Dashti , A Stefek , E McGonagle , S Strobel , S Laber , S Agrawal , GP Westcott , A Kar , ML Veregge , A Gulko , H Srinivasan , Z Kramer , E De Felippis , E Merkel , J Ducie , CG Boyd , W Gourash , A Courcoulas , SJ Lin , BT Lee , D Morris , A Tobias , AV Khera , M Claussnitzer , TH Pers , A Giodano , O Askenberg , A Regev , LT Tsai , ED Rosen

Brief summary: Emont et al. created a cell atlas of human and mouse white adipose tissue, which goes a long way in informing our understanding of the complexity of adipose tissue.Although adipocytes make up the largest proportion of adipose tissue volume, the cellular structure of adipose tissue is far more complex and includes adipose tissue progenitor cells (APCs), fibroblasts, vascular cells and immune cells. We are also beginning to understa...

ey0021.3-4 | Thyroid Function - Genetic Determinants and Associations with Health and (Thyroid) Disease | ESPEYB21

3.4. Genome-wide association study of thyroid-stimulating hormone highlights new genes, pathways and associations with thyroid disease

Williams Alexander T , Chen Jing , Coley Kayesha , Batini Chiara , Izquierdo Abril , Packer Richard , Abner Erik , Kanoni Stavroula , Shepherd David J , Free Robert C , Hollox Edward J , Brunskill Nigel J , Ntalla Ioanna , Reeve Nicola , Brightling Christopher E , Venn Laura , Adams Emma , Bee Catherine , Wallace Susan E , Pareek Manish , Hansell Anna L , Esko Tonu , Research Team Estonian Biobank , Stow Daniel , Jacobs Benjamin M , van Heel David A , & Health Research Team Genes , Hennah William , Rao Balasubramanya S , Dudbridge Frank , Wain Louise V , Shrine Nick , Tobin Martin D , John Catherine

Brief Summary: This study investigated genetic factors influencing normal variation in TSH levels (range 0.4 to 4.0 mIU/L) through a large genome-wide association study (GWAS) involving 247,107 European ancestry individuals. It identified 260 independent sentinel variants, of which 158 are novel. These variants explained 22.8% of TSH variance within the adult reference interval, implicating 112 putative causal genes, 76 of which had not been previously linked to TSH regulation...

ey0020.4-10 | Gender Incongruence (GI): New Guidance | ESPEYB20

4.10. Standards of Care for the Health of Transgender and Gender Diverse People, Version 8

E Coleman , AE Radix , WP Bouman , GR Brown , ALC de Vries , MB Deutsch , R Ettner , L Fraser , M Goodman , J Green , AB Hancock , TW Johnson , DH Karasic , GA Knudson , SF Leibowitz , HFL Meyer-Bahlburg , SJ Monstrey , J Motmans , L Nahata , TO Nieder , SL Reisner , C Richards , LS Schechter , V Tangpricha , AC Tishelman , MAA Van Trotsenburg , S Winter , K Ducheny , NJ Adams , TM Adrian , LR Allen , D Azul , H Bagga , K Başar , DS Bathory , JJ Belinky , DR Berg , JU Berli , RO Bluebond-Langner , MB Bouman , ML Bowers , PJ Brassard , J Byrne , L Capitan , CJ Cargill , JM Carswell , SC Chang , G Chelvakumar , T Corneil , KB Dalke , G De Cuypere , E de Vries , M Den Heijer , AH Devor , C Dhejne , A D'Marco , EK Edmiston , L Edwards-Leeper , R Ehrbar , D Ehrensaft , J Eisfeld , E Elaut , L Erickson-Schroth , JL Feldman , AD Fisher , MM Garcia , L Gijs , SE Green , BP Hall , TLD Hardy , MS Irwig , LA Jacobs , AC Janssen , K Johnson , DT Klink , BPC Kreukels , LE Kuper , EJ Kvach , MA Malouf , R Massey , T Mazur , C McLachlan , SD Morrison , SW Mosser , PM Neira , U Nygren , JM Oates , J Obedin-Maliver , G Pagkalos , J Patton , N Phanuphak , K Rachlin , T Reed , GN Rider , J Ristori , S Robbins-Cherry , SA Roberts , KA Rodriguez-Wallberg , SM Rosenthal , K Sabir , JD Safer , AI Scheim , LJ Seal , TJ Sehoole , K Spencer , C St Amand , TD Steensma , JF Strang , GB Taylor , K Tilleman , GG T'Sjoen , LN Vala , NM Van Mello , JF Veale , JA Vencill , B Vincent , LM Wesp , MA West , J Arcelus

Brief summary: The World Professional Association for Transgender Health (WPATH) has issued an updated Standards of Care version 8 which contains important guidelines on how the assessment of gender variant children and adolescents should be considered, and by whom, and provides guidance around the consideration of young people for hormonal intervention.This long and detailed document has had considerable input from many experts involved in transgender c...