ISSN 1662-4009 (online)

ey0015.6-10 | Food for thought | ESPEYB15

6.10 I am your trans patient

EB Lewis , B Vincent , A Brett , S Gibson , RJ Walsh

To read the full abstract: BMJ. 2017 Jun 30;357:j2963This group of 5 transgender and non-medical professional authors has written a unique “What Your Patient is Thinking” article published in the BMJ. Their aim was to tell health care providers, and others who manage transgender people, how they want to be received and treated and what went wrong in many previous meetings with the healt...

ey0016.2-1 | Neonatal Hypoglycaemia | ESPEYB16

2.1. Congenital hyperinsulinism in infants with turner syndrome: possible association with monosomy X and KDM6A haploinsufficiency

CE Gibson , KE Boodhansingh , C Li , L Conlin , P Chen , SA Becker , T Bhatti , V Bamba , NS Adzick , DD De Leon , A Ganguly , CA Stanley

To read the full abstract: Horm Res Paediatr: 2018;89(6):413–422.This study examined the clinical and molecular aspects of girls with Turner syndrome and hyperinsulinaemic hypoglycemia (HH). Records of girls with hyperinsulinism and Turner syndrome were reviewed.The findings expand on previous observations suggesting a link between Turner syndrome and hyperins...

ey0019.9-12 | Fertility issues and reproductive outcomes in childhood cancer survivors | ESPEYB19

9.12. Pregnancy and pregnancy outcomes after hematopoietic stem cell transplantation in childhood: a cross-sectional survey of the EBMT pediatric diseases working party

T Diesch-Furlanetto , A Rovo , JE Galimard , G Szinnai , A Dalissier , P Sedlacek , I Bodova , VK Roussou , BE Gibson , X Poire , F Fagioli , H Pichler , M Faraci , FG Gumy-Pause , JH Dalle , A Balduzzi , P Bader , S Corbacioglu Reprod. 2021; 36: 2871-82. PMID: 34529796.Brief Summary: This retrospective study of the European Society for Blood and Marrow Transplantation (EBMT) registry describes the natural or assisted conceptions and their outcomes in patients <18-year-old at their first transplantation who received hematopoietic stem cell transplantation (HSCT) between 1995 and 2016. <p class=...

ey0016.12-13 | Lipid Metabolism | ESPEYB16

12.13. Marine n-3 fatty acids and prevention of cardiovascular disease and cancer

JE Manson , NR Cook , IM Lee , W Christen , SS Bassuk , S Mora , H Gibson , CM Albert , D Gordon , T Copeland , D D'Agostino , G Friedenberg , C Ridge , V Bubes , EL Giovannucci , WC Willett , JE Buring , VITAL Research Group Buring

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...

ey0016.15-2 | (1) | ESPEYB16

15.2. Vitamin D supplements and prevention of cancer and cardiovascular disease

JE Manson , NR Cook , IM Lee , W Christen , SS Bassuk , S Mora , H Gibson , D Gordon , T Copeland , D D'Agostino , G Friedenberg , C Ridge , V Bubes , EL Giovannucci , WC Willett , JE Buring

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], ...

ey0016.5-7 | New Insight into Rare Skeletal Disorders | ESPEYB16

5.7. Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

P Heyn , CV Logan , A Fluteau , RC Challis , T Auchynnikava , CA Martin , JA Marsh , F Taglini , F Kilanowski , DA Parry , V Cormier-Daire , CT Fong , K Gibson , V Hwa , L Ibanez , SP Robertson , G Sebastiani , J Rappsilber , RC Allshire , MAM Reijns , A Dauber , D Sproul , AP Jackson

Abstract Link: Nat Genet. 2019 Jan;51(1):96–105.In brief: Gain-of-function mutations altering DNMT3A are identified as a new cause of microcephalic dwarfism. Modelling of the disease in mice show that the mutations abrogate DNMT3A binding to H3K36me2 and H3K36me3 and lead to aberrant DNA methylation of Polycomb-marked regions and therefore repression ...