Results 81 to 90 of about 6,169 (207)

Laparoscopic resection of pancreatic neck lesion with Roux-en-Y pancreatico-jejunostomy

Journal of Pediatric Surgery Case Reports, 2019
Background: Congenital hyperinsulinism is a rare disease and patients not responding to medical treatment need near-total or partial pancreatectomy, dependent on whether they have diffuse or focal hyperinsulinism, respectively.
Martin Sidler, Pratik Shah, Michael Ashworth, Paolo De Coppi   +3 more
doaj   +1 more source

Clinical Trial: Efficacy and Safety of Velusetrag in Chronic Intestinal Pseudo‐Obstruction: A Randomized, Phase 2, Placebo‐Controlled, Crossover, Multiple (n = 1), Proof‐of‐Concept Study

Neurogastroenterology &Motility, Volume 38, Issue 1, January 2026.
This phase 2 proof‐of‐concept trial evaluated the efficacy and safety of velusetrag in patients with chronic intestinal pseudo‐obstruction. Velusetrag treatment was generally well tolerated and was associated with improved symptoms and a reduction in pseudo‐obstructive episodes versus placebo, although these differences did not reach statistical ...
Carolina Malagelada, Roberto De Giorgio, Rosanna Francesca Cogliandro, Luis Alcalá‐González, Anna Costanzini, Valeria Scuderi, Sara Manzoni, Elena Pasquali, Jan Tack, Vincenzo Stanghellini   +9 more
wiley   +1 more source

A novel mutation of gene in a patient with diazoxide-unresponsive congenital hyperinsulinism [PDF]

Korean Journal of Pediatrics, 2016
Congenital hyperinsulinism (CHI) is a rare condition that can cause irreversible brain damage during the neonatal period owing to the associated hypoglycemia. Hypoglycemia in CHI occurs secondary to the dysregulation of insulin secretion.
Ji Sook Park, Hong-Jun Lee, Chan-Hoo Park   +2 more
doaj   +1 more source

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), Azcona-San-Julian, M.C. (María Cristina), Carracedo, A. (A.), Fernandez-Marmiesse, A. (A.), Garrastachu, P. (P.), Martino, E. (E.), Richter, J.A. (José Ángel)   +6 more
core  

iRegNet3D: three-dimensional integrated regulatory network for the genomic analysis of coding and non-coding disease mutations [PDF]

, 2017
The mechanistic details of most disease-causing mutations remain poorly explored within the context of regulatory networks. We present a high-resolution three-dimensional integrated regulatory network (iRegNet3D) in the form of a web tool, where we ...
Cooper, David Neil, Liang, Siqi, Mort, Matthew, Stenson, Peter D., Tippens, Nathaniel D., Yu, Haiyuan, Zhou, Yaoda   +6 more
core   +4 more sources

Neonatal Outcomes Among Neonates of Women With and Without Type 1 Diabetes in Sweden From 2010 to 2022

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, Eva Wiberg‐Itzel, Joanna Tingström, Cecilia Ekéus   +3 more
wiley   +1 more source

A tale of two sisters – delayed diagnosis of genetic hyperinsulinaemic hypoglycaemia

Endocrinology, Diabetes & Metabolism Case Reports
Congenital hyperinsulinism is the leading cause of persistent hypoglycaemia in infants and children; however, it is uncommon to be diagnosed in adulthood. We describe the cases of two sisters who presented with hyperinsulinaemic hypoglycaemia aged 47 and
F Stringer, C Preston, R MacIsaac, F Inchley, L Rivera-Woll, S Farrell, Sachithanandan   +6 more
doaj   +1 more source

Cardiovascular disease risk in the offspring of diabetic women: the impact of the intrauterine environment [PDF]

, 2012
The incidence of gestational diabetes is increasing worldwide, exposing large numbers of infants to hyperglycaemia whilst in utero. This exposure may have a long-term negative impact on the cardiovascular health of the offspring.
Burgner, David, Marco, Laura J, McCloskey, Kate, Ponsonby, Anne-Louise, Said, Joanne, Vuillermin, Peter J   +5 more
core   +3 more sources

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single‐Center Experience

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, Andrew M. George, Evan R. Hathaway, Carlyn Glatts, Jennifer M. Kalish   +4 more
wiley   +1 more source

A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA)

JIMD Reports, Volume 66, Issue 6, November 2025.
ABSTRACT Combined malonic and methylmalonic aciduria (CMAMMA) is an inborn error of metabolism caused by a deficiency in mitochondrial malonyl‐CoA synthetase, the enzyme responsible for activating malonic acid (MA) to malonyl‐CoA, a precursor of lipoic acid.
Vincenza Gragnaniello, Alfonso Galderisi, Sara Tucci, Mara Doimo, Marianna Caterino, Christian Loro, Chiara Cazzorla, Margherita Ruoppolo, Leonardo Salviati, Alberto B. Burlina   +9 more
wiley   +1 more source