Results 41 to 50 of about 4,191 (204)

Cardiovascular Health in Women—Across the Lifespan

Clinical Endocrinology, EarlyView.
ABSTRACT Cardiovascular disease (CVD) remains the leading cause of mortality and morbidity among women worldwide. However, CVD continues to be perceived as a predominantly male issue. CVD in women therefore remains understudied, underrecognized and undertreated.
Jaya Chandrasekhar, Jessica Yao, Simone Gong, Madhuka Wijayarathne, Monique Watts, Swati Mukherjee   +5 more
wiley   +1 more source

Neurodevelopmental outcomes and neurophysiological parameters in children with congenital hyperinsulinism

Медицинский совет, 2022
Introduction. Congenital hyperinsulinism is a rare group of genetic disorders resulting in persistent hypoglycemia which can lead to delay of neurodevelopment.Aim.
I. L. Nikitina, L. R. Sarakaeva, V. G. Bairov, A. A. Sukhotskaya, A. P. Smorodin, D. V. Ryzhkova, L. B. Mitrofanova, E. A. Eftich, M. A. Melikyan, I. A. Kelmanson   +9 more
doaj   +1 more source

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

Pacing and Clinical Electrophysiology, EarlyView.
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

Identification of an ABCC8 variant in a kindred with transient diazoxide responsive hyperinsulinism

Endocrinology, Diabetes & Metabolism Case Reports
Congenital hyperinsulinism is a rare disorder characterized by hypoglycemia and inappropriately elevated insulin levels. The genetics of congenital hyperinsulinism is complex, with the most common cause being pathogenic variants in the ATP-sensitive ...
Ryan L Smith, Stephen I Stone
doaj   +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

Activation of Protein Kinase A (PKA) signaling mitigates congenital hyperinsulinism associated hypoglycemia in the Sur1-/- mouse model.

PLoS ONE, 2020
There is a significant unmet need for a safe and effective therapy for the treatment of children with congenital hyperinsulinism. We hypothesized that amplification of the glucagon signaling pathway could ameliorate hyperinsulinism associated ...
Mangala M Soundarapandian, Christine A Juliana, Jinghua Chai, Patrick A Haslett, Kevin Fitzgerald, Diva D De León   +5 more
doaj   +1 more source

Juvenile hyperinsulinism in a Maine Coon kitten

Journal of Feline Medicine and Surgery Open Reports, 2022
Case summary A 5.5 month-old intact male Maine Coon cat was presented to a referral hospital for a history of muscle fasciculations, lethargy and seizures associated with refractory hypoglycemia.
Matthew Kornya, Anthony Abrams-Ogg, Dominique Comeau, Jeff Caswell   +3 more
doaj   +1 more source

Hypoaminoacidemia and Pyroglutamic Aciduria: Potential Biomarkers in Malnutrition‐Related Hyperammonemia

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Hyperammonemia is a medical emergency, and the cause must be identified quickly in order to treat appropriately. Malnutrition is a known risk factor for hyperammonemia; however, there are limited reliable lab indicators used to identify malnutrition.
M. M. Crenshaw, O. M. D'Annibale, V. Martucci, S. Gracie, A. Kochhar, J. Stansauk, A. Larson, P. Baker II, C. Peck, T. Wood, A. El‐Gharbawy, S. McCandless, M. K. LoPiccolo   +12 more
wiley   +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

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