Results 71 to 80 of about 14,011 (206)

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

Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity

Genome Medicine
Background We recently reported non-coding variants in a cis-regulatory element of the beta-cell disallowed gene hexokinase 1 (HK1) as a novel cause of congenital hyperinsulinism.
Jasmin J. Bennett, Cécile Saint-Martin, Bianca Neumann, Jonna M. E. Männistö, Jayne A. L. Houghton, Susann Empting, Matthew B. Johnson, Thomas W. Laver, Jonathan M. Locke, Benjamin Spurrier, Matthew N. Wakeling, Indraneel Banerjee, Antonia Dastamani, Hüseyin Demirbilek, John Mitchell, Markus Stange, International Congenital Hyperinsulinism Consortium, Klaus Mohnike, Jean-Baptiste Arnoux, Nick D. L. Owens, Martin Zenker, Christine Bellanné-Chantelot, Sarah E. Flanagan   +22 more
doaj   +1 more source

Insulin-induced lipid binding to hemoglobin [PDF]

Journal of the Serbian Chemical Society, 2003
Under hypoglycemic conditions, concomitant hyperinsulinism causes an apparent modification of hemoglobin (Hb) which is manifested by its aggregation (Niketić et al., Clin. Chim. Acta 197 (1991) 47).
Tomašević Nenad, Nikolić Milan R., Klappe Karen, Hoekstra Dick, Niketić Vesna P.   +4 more
doaj   +1 more source

AI‐Driven Fetal Liver Echotexture Analysis

Journal of Ultrasound in Medicine, Volume 45, Issue 2, Page 301-312, February 2026.
Objectives To evaluate the performance of artificial intelligence (AI)‐based models in predicting elevated neonatal insulin levels through fetal hepatic echotexture analysis. Methods This diagnostic accuracy study analyzed ultrasound images of fetal livers from pregnancies between 37 and 42 weeks, including cases with and without gestational diabetes ...
Karine S Da Correggio, Luís Otávio Santos, Felipe S Muylaert Barroso, Roberto N Galluzzo, Thiago Z L Chaves, Aldo von Wangenheim, Alexandre S C Onofre   +6 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

Congenital hyperinsulinism caused by a de novo mutation in the ABCC8 gene: a case report [PDF]

, 2018
K
Balogh, István, Balogh, Lídia, Gombos, Éva, Kappelmayer, János, Madar, László, Molnár, Zsuzsanna   +5 more
core  

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

Patologia molecular do receptor de sulfoniluréia (SUR1) [PDF]

, 2000
The sulfonylurea receptor is a subunit of the ATP-sensitive potassium channel, which is expressed in the pancreatic beta cell. The central role of this receptor in glucose-induced insulin secretion was confirmed by description that mutations in this gene
Reis, André Fernandes [UNIFESP], Velho, Gilberto [UNIFESP]   +1 more
core   +2 more sources

Breast Findings in Females With Beckwith–Wiedemann Syndrome

Pediatric Blood &Cancer, Volume 73, Issue 1, January 2026.
ABSTRACT Beckwith–Wiedemann syndrome (BWS) is an overgrowth condition caused by epigenetic defects on chromosome 11p15. Children with BWS have a predisposition to embryonal tumors such as Wilms tumor and hepatoblastoma. However, few reports of breast tumors in females with BWS have been published and the risk of malignancy and need for screening ...
Liron D. Grossmann, Andrew M. George, Tom Lapidus, Cassandra Ligh, Suzanne P. MacFarland, Jennifer M. Kalish   +5 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