ISSN 1662-4009 (online)

ey0015.2-13 | Primary cells isolated from the umbilical cord of offspring born to mothers with GDM maintain metabolic and molecular imprints of maternal hyperglycemia | ESPEYB15

Primary cells isolated from the umbilical cord of offspring born to mothers with GDM maintain metabolic and molecular imprints of maternal hyperglycemia

AI Amrithraj , A Kodali , L Nguyen , AKK Teo , CW Chang , N Karnani , KL Ng , PD Gluckman , YS Chong , W Stünkel

To read the full abstract: Endocrinology. 2017 Jul 1;158(7):2102-2112Gestational diabetes mellitus (GDM) produces fetal hyperglycemia with increased lifelong risks for the exposed offspring to cardiovascular and other diseases. In-utero exposure to GDM alters metabolic programming in newborns and their placenta, cord tissues, and cord blood. Human umbilical cord mesenchymal stromal cells (hUC-MSCs...

ey0020.12-12 | Food for Thought | ESPEYB20

12.12. Associations between infant screen use, electroencephalography markers, and cognitive outcomes

EC Law , MX Han , Z Lai , S Lim , ZY Ong , V Ng , LJ Gabard-Durnam , CL Wilkinson , AR Levin , A Rifkin-Graboi , LM Daniel , PD Gluckman , YS Chong , MJ Meaney , CA Nelson

Brief summary: In the prospective population-based Growing Up in Singapore Toward Healthy Outcomes (GUSTO) study (n=437 children, 51.9% boys), the effect of parent-reported screen time in infancy was tested on EEG characteristics and correlated to cognitive outcome. Mean daily screen time at 12 months of age was 2 hours. Infant screen time was associated with altered cortical EEG activity at 18 months and was suggested to explain observed alterations in attention and ...

ey0017.3-10 | New genes | ESPEYB17

3.10. DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis

B Rivera , J Nadaf , S Fahiminiya , M Apellaniz-Ruiz , A Saskin , AS Chong , S Sharma , R Wagener , T Revil , V Condello , Z Harra , N Hamel , N Sabbaghian , K Muchantef , C Thomas , L de Kock , MN Hebert-Blouin , AV Bassenden , H Rabenstein , O Mete , R Paschke , MP Pusztaszeri , W Paulus , A Berghuis , J Ragoussis , YE Nikiforov , R Siebert , S Albrecht , R Turcotte , M Hasselblatt , MR Fabian , WD Foulkes

To read the full abstract: J Clin Invest. 2020;130:1479–1490.This detailed genetic and molecular analysis of a three-generation family reveals a new form of autosomal dominant tumor susceptibility syndrome entitled familial multinodular goiter (MNG) with schwannomatosis. Biallelic alterations of the DGCR8 gene were found in all affected patients: First, all patients harbored the same heterozygous germline mutation p.E518K. Secondly...