Results 41 to 50 of about 16,326 (211)
Acta Paediatrica, Volume 114, Issue 12, Page 3191-3198, December 2025.Neonatal outcomes among neonates of women with and without type 1 diabetes in Sweden from 2010 to 2022 by Goldberg A. et al. ABSTRACT Aim This register‐based study aimed to investigate differences in adverse neonatal outcomes between neonates born to mothers with and without type 1 diabetes in Sweden.
Alexandra Goldberg +3 more
wiley +1 more source
A Sensitive Plasma Insulin Immunoassay to Establish the Diagnosis of Congenital Hyperinsulinism [PDF]
, 2021 Julie Siersbæk +3 more
openalex +1 more source
Medical Journal of Australia, Volume 223, Issue 9, Page 484-491, November 2025.Abstract Introduction Monogenic diabetes accounts for 2–5% of diabetes. Although its identification has substantial therapeutic implications, more than 80% of affected individuals are undiagnosed or misdiagnosed as having type 1 or 2 diabetes. This consensus statement reviews genetic testing for monogenic diabetes in adults and provides evidence‐based ...
Sunita MC De Sousa +10 more
wiley +1 more source
Congenital hyperinsulinism caused by a de novo mutation in the ABCC8 gene: a case report [PDF]
, 2018 K
Balogh, István +5 more
core
Successful use of long acting octreotide in two cases with Beckwith-Wiedemann syndrome and severe hypoglycemia [PDF]
, 2014 INTRODUCTION: Hyperinsulinism associated with Beckwith-Wiedemann syndrome (BWS) can occur in about 50% of cases, causing hypoglycemia of variable severity. Parenteral use of octreotide may be indicated if unresponsive to diazoxide.
Hiba Al-Zubeidi +2 more
core +1 more source
American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan +4 more
wiley +1 more source
Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations [PDF]
, 2011 Dominantly acting loss-of-function mutations in the ABCC8/KCNJ11 genes can cause mild medically responsive hyperinsulinaemic hypoglycaemia (HH). As controversy exists over whether these mutations predispose to diabetes in adulthood we investigated the ...
Ellard, S +9 more
core +4 more sources
Estudio PET-TC con 18F-fluoro-L-DOPA combinado con el análisis genético para la optimización de la clasificación y tratamiento de un niño con hiperinsulinismo congénito grave [PDF]
, 2009 BACKGROUND: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycaemia in infancy. The differential diagnosis between focal and diffuse forms of CHI is of great importance when planning surgery. The aim of this article is to
Arbizu, J. (Javier) +6 more
core
Clinical Case Reports, Volume 13, Issue 10, October 2025.ABSTRACT Infants with Beckwith‐Wiedemann syndrome face a high risk of embryonal tumors, necessitating early and consistent surveillance. This case illustrates how timely imaging and biochemical monitoring enabled successful non‐surgical management of bilateral adrenal neuroblastoma.
Mulualeme Nigusie +6 more
wiley +1 more source
Nutrition in Clinical Practice, Volume 40, Issue 5, Page 1040-1052, October 2025.Abstract Somatostatin is a naturally occurring polypeptide hormone that exerts its effect on the gastrointestinal tract by reducing exocrine and endocrine secretion, resulting in decreased motility, gastric emptying, splanchnic blood flow, fat absorption, lymphatic flow, and gallbladder contraction.
Bailey Dunn +4 more
wiley +1 more source