Results 31 to 40 of about 7,729 (170)

Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism

Clinical Case Reports, 2020
Advances in genomics and 18F‐DOPA PET‐CT imaging have transformed the management of infants with Congenital Hyperinsulinism. Preoperative diagnosis of focal hyperinsulinism permits limited pancreatectomy with improved clinical outcomes while knowledge of
Caroline M. Joyce, Jayne A. Houghton, Domhnall J. O’Halloran, Paula M. O’Shea, Susan M. O’Connell   +4 more
doaj   +1 more source

Laparoscopic Surgery for Focal-Form Congenital Hyperinsulinism Located in Pancreatic Head

Frontiers in Pediatrics, 2022
Background and AimsCongenital hyperinsulinism of infancy (CHI) is a rare condition that may cause irreversible severe neurological damage in infants. For children in whom medical management fails, partial or near-total pancreatectomy is then required ...
Zhe Wen, Jieqin Wang, Qifeng Liang, Xiaopan Chang, Wen Zhang, Huilin Niu, Qiao He   +6 more
doaj   +1 more source

Improving Medication Safety Following Neonatal Discharge: A Feasibility Study of a Parent Medication Education Intervention in Ireland

Acta Paediatrica, EarlyView.
ABSTRACT Aim Neonates discharged home on medications remain at risk of medication errors. The PADDINGToN programme previously developed parent co‐designed resources to support safer medication administration following discharge. The aim of this study, PADDINGToN‐2, is to evaluate the feasibility of recruiting and retaining parents in a study assessing ...
S. Giva, B. Cleary, F. Gaffney, L. Bracken, A. Gill, C. Sutton, J. Clark, V. Gray, N. McCallion, F. O'Brien   +9 more
wiley   +1 more source

Arterial Calcium Stimulation with Hepatic Venous Sampling in the Localization Diagnosis of Endogenous Hyperinsulinism

International Journal of Endocrinology, 2016
Objective. The aim of this study was to assess the utility of arterial calcium stimulation with hepatic venous sampling (ASVS) in the localization diagnosis of endogenous hyperinsulinism. Patients and Methods.
Paloma Moreno-Moreno, María Rosa Alhambra-Expósito, Aura Dulcinea Herrera-Martínez, Rafel Palomares-Ortega, Luis Zurera-Tendero, Juan José Espejo Herrero, María Angeles Gálvez-Moreno   +6 more
doaj   +1 more source

The Clinical Phenotype and Genetic Analysis of Monogenic Non Syndromic Obesity Caused by MC4R Gene Variation

Molecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.
A novel MC4R mutation (c.185A > G) was identified in a 10‐year‐old girl with severe obesity and hyperinsulinemia. Retrospective analysis of 64 pediatric cases revealed that mutation location influences BMI, modulated by underlying disease status, demonstrating that the genotype–phenotype relationship in MC4R‐associated obesity is clinically context ...
Xin Li, Xiaotian Wang, Xin Liu, Shuping Wang, Wentao Yang   +4 more
wiley   +1 more source

Congenital Hyperinsulinism India Association: An Approach to Address the Challenges and Opportunities of a Rare Disease

Medical Sciences
India’s population complexity presents varied challenges in genetic research, and while facilities have gained traction in tier-1 and -2 cities, reliance on international collaborations often delays such investigations.
Jaikumar B. Contractor, Venkatesan Radha, Krati Shah, Praveen Singh, Sunil Tadepalli, Somashekhar Nimbalkar, Viswanathan Mohan, Pratik Shah   +7 more
doaj   +1 more source

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, Volume 110, Issue 2, Page 150-164, August 2026.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 more
wiley   +1 more source

Insulin-induced glycosylphosphatidylinositol (GPI) binding to red cell membrane proteins [PDF]

Journal of the Serbian Chemical Society, 2002
In this work GPI binding to membrane proteins from erythrocytes of insulinoma patients for whom prolonged hyperinsulinism and hypoglycemia were characteristic, as well as from normal erythrocytes incubated with supraphysiological concentrations of ...
NENAD TOMASEVIC, VESNA NIKETIC, MILAN NIKOLIC   +2 more
doaj   +3 more sources

Association of Post‐Oral Glucose Tolerance Test Hypoglycaemia With Clinical Features, Incident Diabetes and Mortality in the Di@bet.es Cohort

Diabetes, Obesity and Metabolism, Volume 28, Issue 8, Page 7430-7442, August 2026.
ABSTRACT Aims To investigate the association of post‐oral glucose tolerance test (OGTT) hypoglycaemia with clinical features, incident diabetes and mortality. Materials and Methods This population‐based cohort study included 2924 adults (median age 49 years, 1680 women) without known diabetes who underwent a 75‐g OGTT as part of the Di@bet.es Study ...
Tomás González‐Vidal, Gemma Rojo‐Martínez, Sergio Valdés, Eva García‐Escobar, Josep Franch‐Nadal, Alfonso Calle‐Pascual, Luis Castaño, Felipe Javier Chaves, Eduard Montanya, Elsa Villa‐Fernández, Ana Victoria García, Miguel García‐Villarino, Carmen Lambert, Edelmiro Menéndez‐Torre, Elías Delgado   +14 more
wiley   +1 more source

Bilateral Ballismus: An Unusual Clinical Sign With an Unexpected Origin

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT The spectrum of neurologic symptoms caused by hypoglycaemia can be remarkably broad. Thus, hypoglycemia should be considered early in the diagnostic workup of neurologic symptoms, including those that may appear atypical. Prompt glucose administration can result in rapid symptom resolution, potentially preventing costly or unnecessary invasive
S. Reichert, A. Knoflach, I. Wiedl, K. Hoskin, C. Ganser, M. Wertli, T. Cosma   +6 more
wiley   +1 more source