ISSN 1662-4009 (online)

ey0019.2-1 | Neonatal hypoglycaemia | ESPEYB19

2.1. Dextrose gel for neonates at risk with asymptomatic hypoglycemia: a randomized clinical trial

K Gupta , P Amboiram , U Balakrishnan , A C , T Abiramalatha , U Devi

Pediatrics. 2022 1;149(6):e2021050733. doi: 10.1542/peds.2021-050733. PMID: 35582897.Brief Summary: This randomized clinical trial in ‘at-risk’ neonates with asymptomatic hypoglycemia tested whether oral dextrose gel prevented the need for intravenous fluids. Oral dextrose gel reduced the need for intravenous fluids as well as admission to the neonatal intensive care unit (NICU).</...

ey0021.4-13 | New Perspectives | ESPEYB21

4.13. Saturation genome editing of BAP1 functionally classifies somatic and germline variants

AJ Waters , T Brendler-Spaeth , D Smith , V Offord , HK Tan , Y Zhao , S Obolenski , M Nielsen , R van Doorn , JE Murphy , P Gupta , CF Rowlands , H Hanson , E Delage , M Thomas , EJ Radford , SS Gerety , C Turnbull , JRB Perry , ME Hurles , DJ Adams

Brief Summary: These authors performed exhaustive saturation genome editing (SGE) of BAP1 (BRCA1-associated protein 1), the disruption of which is linked to tumorigenesis and altered neurodevelopment. 18,108 unique variants were characterized, of which 6,196 were found to have abnormal functions. These were then used to evaluate phenotypic associations in the UK Biobank. BAP1 variants were also characterized in a large population-ascertained tumor collection,...

ey0016.3-5 | Thyroid and Pregnancy | ESPEYB16

3.5. Levothyroxine in women with thyroid peroxidase antibodies before conception

RK Dhillon-Smith , LJ Middleton , KK Sunner , V Cheed , K Baker , S Farrell-Carver , R Bender-Atik , R Agrawal , K Bhatia , E Edi-Osagie , T Ghobara , P Gupta , D Jurkovic , Y Khalaf , M MacLean , C McCabe , K Mulbagal , N Nunes , C Overton , S Quenby , R Rai , N Raine-Fenning , L Robinson , J Ross , A Sizer , R Small , A Tan , M Underwood , MD Kilby , K Boelaert , J Daniels , S Thangaratinam , SY Chan , A Coomarasamy

To read the full abstract: N Engl J Med. 2019;380:1316–1325.This large multicenter randomized double-blind placebo-controlled trial, in euthyroid women with thyroid peroxidase antibodies and a history of miscarriage or infertility, found no effect of levothyroxine substitution from before conception to the end of pregnancy on likelihood of live birth.In 2011, ...