Results 51 to 60 of about 3,174 (161)

Congenital hyperinsulinism: current status and future perspectives [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2014
The diagnosis and treatment of congenital hyperinsulinism (CHI) have made a remarkable progress over the past 20 years and, currently, it is relatively rare to see patients who are left with severe psychomotor delay.
Tohru Yorifuji
doaj   +1 more source

Transjugular Leadless Pacemaker Implantation in an Adolescent With Central Hypoventilation Syndrome: A Case Report

Pacing and Clinical Electrophysiology, Volume 49, Issue 5, Page 606-609, May 2026.
ABSTRACT Background Permanent pacing in pediatric patients is complicated by small body size, vascular access limitations, and the need for durable long‐term management. Leadless pacemakers offer an emerging alternative that minimizes infection and lead‐related complications, yet vascular access remains a key challenge in young patients.
Marzia Giaccardi, Gulio Porcedda, Zaccaria Ricci, Hendrik Bonnemeier, Benito Baldauf   +4 more
wiley   +1 more source

Severe transient neonatal hyperinsulinism: First Peruvian case series

SAGE Open Medical Case Reports
Congenital hyperinsulinism is characterized by dysregulated insulin secretion and is the most common and severe cause of persistent hypoglycemia in pediatrics. Brain damage rates can be as high as 50% due to inadequate treatment.
Manuel André Virú-Loza, Francesca Bermudez-Paredes, Isabel Milagros Arauco-Carhuas   +2 more
doaj   +1 more source

The genetic basis of congenital hyperinsulinism [PDF]

Journal of Medical Genetics, 2009
Congenital hyperinsulinism (CHI) is biochemically characterised by the dysregulated secretion of insulin from pancreatic β-cells. It is a major cause of persistent hyperinsulinaemic hypoglycaemia (HH) in the newborn and infancy period. Genetically CHI is a heterogeneous condition with mutations in seven different genes described.
James, Chela, Kapoor, Ritika K, Ismail, Dunia, Hussain, Khalid   +3 more
openaire   +2 more sources

Contrasting Effects of Chronic Glucokinase Activation and Inhibition on Pancreatic Beta‐Cell Function

The FASEB Journal, Volume 40, Issue 7, 15 April 2026.
In the non‐diabetic beta‐cell (top left) activation of glucokinase (bottom left) leads to inhibition of mitochondrial metabolism and thereby impairs insulin secretion. The effect is similar to that of chronic hyperglycaemia as seen in the diabetic beta‐cell (top right).
Matthew Lloyd, Natascia Vedovato, Samuel J. Mullan, Alice Elphick, Aerin J. Dumenil, Chantal Rufer, Alexandra C. Title, Burcak Yesildag, Elizabeth Haythorne, Frances M. Ashcroft   +9 more
wiley   +1 more source

Extreme caution on the use of sirolimus for the congenital hyperinsulinism in infancy patient

Orphanet Journal of Rare Diseases, 2017
We have recently published on the limited effectiveness of sirolimus as a treatment option for hypoglycaemia as a consequence of hyperinsulinism. Our data oppose the view that mTOR inhibitors provide new opportunities for the treatment of patients with ...
Indraneel Banerjee, Diva De Leon, Mark J. Dunne   +2 more
doaj   +1 more source

From the cytosol to the inner membrane: biogenesis of the mitochondrial carrier family

Protein Science, Volume 35, Issue 4, April 2026.
Abstract Mitochondrial carrier proteins are essential for cellular physiology as they are active in a wide range of metabolic pathways including production of cellular energy, amino acid synthesis, redox balance and ion homeostasis. The double membrane of mitochondria provides a tightly gated environment through which carrier proteins facilitate the ...
Catherine S. Palmer, Phoebe J. Leeming, Diana Stojanovski   +2 more
wiley   +1 more source

Recurrent Hypoglycemia in Two Late‐Preterm Infants With Transitional Disorder of Glucose Mobilization—Case Series

Clinical Case Reports, Volume 14, Issue 3, March 2026.
Timeline of events. ABSTRACT Great emphasis is placed upon addressing hyperinsulinism in at‐risk infants with recurrent hypoglycemia. We report two preterm infants with recurrent nonhyperinsulinemic hypoglycemia due to transient impairment of glucose mobilization, warranting diazoxide use.
Suresh Chandran, Yu Shan Ting, Skanthakumar Abhirami, Fabian Yap   +3 more
wiley   +1 more source

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 502-510, February 2026.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

Recurrent Hypoglycaemia Leading to Early Diagnosis of Septo‐Optic Dysplasia in a Small‐for‐Gestational‐Age Infant—A Case Report

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Septo‐optic dysplasia (SOD) is a rare condition with highly heterogenous clinical manifestations and can be a diagnostic challenge. It can present with pituitary hormone deficiencies, growth failure, visual impairment, and neurological symptoms. SOD can be diagnosed at different time points—from the prenatal period to childhood. Our team cared
Yuan Rui Leon Tan, Xiaoao Dong, Ngee Lek, Suresh Chandran, Odattil Geetha   +4 more
wiley   +1 more source