Results 111 to 120 of about 20,887 (300)

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, Flanagan, SE, Harmer, SC, Hussain, K, James, CT, Kapoor, RR, McKiernan, J, Shield, JP, Thomas, AM, Tinker, A   +9 more
core   +4 more sources

Possible New Strategies for the Treatment of Congenital Hyperinsulinism

Frontiers in Endocrinology, 2020
Objective Congenital hyperinsulinism (CHI) is a rare disease characterized by persistent hypoglycemia as a result of inappropriate insulin secretion, which can lead to irreversible neurological defects in infants. Poor efficacy and strong adverse effects
J. Sikimić, T. Hoffmeister, A. Gresch, Julia K. Kaiser, W. Barthlen, C. Wolke, I. Wieland, U. Lendeckel, P. Krippeit-Drews, M. Düfer, G. Drews   +10 more
semanticscholar   +1 more source

Unraveling the Interplay Between Metabolism and Neurodevelopment in Health and Disease

CNS Neuroscience &Therapeutics, Volume 31, Issue 5, May 2025.
Neurodevelopment is orchestrated by precise metabolic regulation. Key metabolic processes—glucose, lipid, and amino acid metabolism—drive cell proliferation, differentiation, synaptogenesis, and neurotransmitter synthesis. These are tightly integrated with signaling pathways like mTOR, AMPK, and insulin/IGF that regulate neuronal growth and synaptic ...
Yanqing He, Kang Xie, Kang Yang, Nianhua Wang, Longbo Zhang   +4 more
wiley   +1 more source

Cardiometabolic Risk Assessment in a Cohort of Children and Adolescents Diagnosed with Hyperinsulinemia

Diseases
Background: Individuals with hyperinsulinemia may initially not meet any diagnostic criteria for metabolic syndrome, though displaying a higher risk of cardiovascular complications combined with obesity, diabetes, and hypertension.
Giorgio Sodero, Donato Rigante, Lucia Celeste Pane, Linda Sessa, Ludovica Quarta, Marcello Candelli, Clelia Cipolla   +6 more
doaj   +1 more source

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

JIMD Reports, 2020
Background Phosphomannomutase 2 deficiency (PMM2‐CDG) is the most common congenital disorder of glycosylation (CDG). Hypoglycemia has been reported in various CDG including PMM2‐CDG.
Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, Gregory M. Enns, Carolyn Ellaway, Shanti Balasubramaniam, Pascale De Lonlay, David Coman, Saadet Mercimek‐Andrews, Peter Witters, Eva Morava   +10 more
doaj   +1 more source

Effect of a physical activity and healthy eating lifestyle intervention in pregnancy on fetal growth trajectories: The DALI randomised controlled trial

Pediatric Obesity, Volume 20, Issue 5, May 2025.
Summary Background Obesity during pregnancy is related to fetal overgrowth. Effective interventions that can mitigate this risk are needed. Objectives This study aimed to investigate the effect of a lifestyle intervention for pregnant women with obesity on fetal growth trajectories. Methods In the DALI trial, pregnant women with a body mass index ≥29.0 
Anna M. Dieberger, Mireille N. M. van Poppel, Gernot Desoye, David Simmons, Jürgen Harreiter, Roland Devlieger, Carmen Medina, Deborah A. Lawlor, Ahmed Elhakeem, on behalf of the DALI core investigator group, Gernot Desoye, David Simmons, Rosa Corcoy, Juan M. Adelantado Perez, Alexandra Kautzky‐Willer, Jürgen Harreiter, Elizabeth Mathiesen, Dorte M. Jensen, Lise Lotte T. Andersen, Fidelma Dunne, Annunziata Lapolla, Maria G. Dalfra, Alessandra Bertolotto, Mireille N. M. van Poppel, Judith G. M. Jelsma, Sander Galjaard, Ewa Wender‐Ozegowska, Agnieszka Zawiejska, David Hill, Roland Devlieger, Frank J. Snoek   +30 more
wiley   +1 more source

Visual interpretation, not SUV ratios, is the ideal method to interpret 18F-DOPA PET scans to aid in the cure of patients with focal congenital hyperinsulinism.

PLoS ONE, 2020
IntroductionCongenital hyperinsulinism is characterized by abnormal regulation of insulin secretion from the pancreas causing profound hypoketotic hypoglycemia and is the leading cause of persistent hypoglycemia in infants and children.
Pradeep K Garg, Burton Putegnat, Lisa Truong, Courtney Reynolds, Irene Sanchez, Jonathan K Nedrelow, John Uffman, Stephen J Lokitz, Rachid Nazih, Sudha Garg, Paul S Thornton   +10 more
doaj   +1 more source

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, Michael E Gottschalk, Ron S Newfield   +2 more
core   +1 more source

A Five‐Year Journey to Diagnosis: Resolving Persistent Hypoglycemia Through Successful Insulinoma Resection—A Case Report

Clinical Case Reports, Volume 13, Issue 3, March 2025.
ABSTRACT Insulinoma is a rare functional pancreatic neuroendocrine tumor with an annual prevalence of 0.5–5 cases per million. It is characterized by excessive insulin secretion, leading to recurrent hypoglycemia, often diagnosed through Whipple's triad: hypoglycemic symptoms, documented low plasma glucose, and symptom resolution after glucose ...
Ankit Shrestha, Anup Pandey, Paleswan Joshi Lakhey, Biraj Baral, Aakash Pandit, Achyut Marahatta, Amisha Seth   +6 more
wiley   +1 more source

Functional hyperactivity of hepatic glutamate dehydrogenase as a cause of the hyperinsulinism/hyperammonemia syndrome: effect of treatment [PDF]

, 2000
OBJECTIVE: The combination of persistent hyperammonemia and hypoketotic hypoglycemia in infancy presents a diagnostic challenge. Investigation of the possible causes and regulators of the ammonia and glucose disposal may ...
Duran, M. (Marinus), Huijmans, J.G.M. (Jan), Klerk, J.B.C. (Johannes) de, Rovers, M.J., Scholte, H.R. (Hans)   +4 more
core