Abstract Search

ey0016.2-2 | Neonatal Hypoglycaemia | ESPEYB16

2.2. Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals

KL Yap , AEK Johnson , D Fischer , P Kandikatla , J Deml , V Nelakuditi , S Halbach , GS Jeha , LC Burrage , O Bodamer , VC Benavides , AM Lewis , S Ellard , P Shah , D Cody , A Diaz , A Devarajan , L Truong , SAW Greeley , DD De Leon , AC Edmondson , S Das , P Thornton , D Waggoner , D Del Gaudio

To read the full abstract: Genet Med. 2019 Jan;21(1):233242.This study documented the clinical features and molecular diagnoses of 9 infants with persistent hyperinsulinism and Kabuki syndrome via a combination of sequencing and copy-number profiling methodologies.KS is characterized by typical facial features (long palpebral fissures with eversion of the lat...

0 shares

ey0020.10-2 | New Data on the Epidemiology of T2D in Children | ESPEYB20

10.2. The Coronavirus Disease 2019 pandemic is associated with a substantial rise in frequency and severity of presentation of youth-onset type 2 diabetes

SN Magge , RM Wolf , L Pyle , EA Brown , VC Benavides , ME Bianco , LC Chao , A Cymbaluk , PG Balikcioglu , K Halpin , DS Hsia , L Huerta-Saenz , JJ Kim , S Kumar , LE Levitt--Katz , BE Marks , A Neyman , KL O'Sullivan , SS Pillai , AS Shah , AH Shoemaker , JAW Siddiqui , S Srinivasan , IH Thomas , JB Tryggestad , MF Yousif , MM Kelsey , COVID-19 and Type 2 Diabetes Consortium Kelsey

Brief summary: A significant increase in the incidence T2D occurred in the USA during the COVID-19 pandemic, particularly among children with obesity and males.Comment: This is the first multicenter report on the incidence of T2D during the first year of the COVID-19 pandemic in the USA. The average number of new diagnoses per year in the two pre-pandemic years was 825, compared with 1463 during the first pandemic year. This increase of 77% is significan...

0 shares

ESPE Yearbook of Paediatric Endocrinology

2.2. Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals

10.2. The Coronavirus Disease 2019 pandemic is associated with a substantial rise in frequency and severity of presentation of youth-onset type 2 diabetes

BiosciAbstracts