Results 51 to 60 of about 10,623 (193)

Case Report: The importance of genetic counseling for families with hyperinsulinism

Frontiers in Pediatrics
Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in infancy. Genotype-phenotype correlations directly inform medical care for patients.
Victoria R. Sanders, Victoria R. Sanders, Katherine Lord, Katherine Lord, Katherine Lord, Winnie M. Sigal, Winnie M. Sigal, Winnie M. Sigal, Heather McKnight, Heather McKnight, N. Scott Adzick, N. Scott Adzick, Lisa J. States, Lisa J. States, Tricia Bhatti, Tricia Bhatti, Diva D. De Leon, Diva D. De Leon, Diva D. De Leon   +18 more
doaj   +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

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy

Clinical Genetics, EarlyView.
PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady, Hadar Hulin Ma'ayan, Michal Cohen, Karin Weiss   +3 more
wiley   +1 more source

Glycaemic Management and Pregnancy Outcomes in HNF1A‐MODY

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Introduction Birthweight of HNF1A‐affected offspring is largely similar to the background population with rarely reported cases of large for gestational age (LGA) and neonatal hypoglycaemia (NH). Conventional clinical management of pre‐gestational diabetes appears to be sufficient in managing HNF1A‐affected women in pregnancy.
M. T. Crowley, P. McCluskey, N. Ng, B. Sanchez‐Lechuga, A. Fleming, M. Hatunic, B. Kinsley, S. Bacon, K. Colclough, M. Kennelly, M. M. Byrne   +10 more
wiley   +1 more source

Recent advances in polyendocrine metabolic ovarian syndrome, formerly polycystic ovary syndrome, with emphasis on endocrine and metabolic dysfunction and cardiovascular risk

Journal of Internal Medicine, Volume 300, Issue 5, Page 590-609, November 2026.
Abstract Polyendocrine metabolic ovarian syndrome (PMOS), previously known as polycystic ovary syndrome, affects 10%–13% of women of reproductive age and remains underdiagnosed despite its substantial health burden. The introduction of the new PMOS nomenclature in 2026 reflects a fundamental shift in understanding the condition as a lifelong endocrine ...
Maria Forslund, Johanna Melin, Anju E. Joham, Terhi T. Piltonen, D. Aled Rees, Helena J. Teede   +5 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

Glutamine Metabolism in Health and Diseases

MedComm, Volume 7, Issue 10, October 2026.
Glutamine metabolism acts as a metabolic hub connecting cellular stress adaptation, immune regulation, and disease development. Through regulating energy production, biosynthesis, redox balance, and nitrogen metabolism, glutamine supports cellular homeostasis under physiological and pathological conditions.
Yi Ding, Fan Tong, Jing Zeng, Chun‐Ping Cui   +3 more
wiley   +1 more source

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

Acta Paediatrica, Volume 115, Issue 10, Page 2191-2199, October 2026.
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

Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation [PDF]

, 2018
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and children. Recessive inactivating mutations in the ABCC8 and KCNJ11 genes account for approximately 50% of all CHI cases.
Işık, E., Hussain, K., Jayne A L Houghton, Demirbilek, Hüseyin, Khalid Hussain, Demirbilek, H., Houghton, Jayne A., Emregül Işık, Flanagan, Sarah E., Jayne A. Houghton, Sian Ellard, Isik, Emregul, Flanagan, S. E., Sarah E. Flanagan, Hussain, Khalid, Hüseyin Demirbilek, Houghton, J. A. L., Işık, Emregül, Ellard, Sian   +18 more
core   +1 more source

Efficacy of Oral Dextrose Gel for Neonatal Hypoglycaemia: An Updated Systematic Review and Meta‐Analysis of Randomized Controlled Trials With 4368 Patients

Endocrinology, Diabetes &Metabolism, Volume 9, Issue 5, September 2026.
The efficacy of oral dextrose gel for neonatal hypoglycaemia. ABSTRACT Background Neonatal hypoglycaemia is a common metabolic disorder affecting up to 15% of healthy neonates and a higher proportion of at‐risk infants. Oral 40% dextrose gel has emerged as a promising, low‐cost intervention, but recent evidence remains inconsistent.
Rowa Tareq Al‐Enezi, Fatmah A. Alshebeeb, Julia Rose Panikulam, Dana B. AlKhaldi, Rawan B. Almutairi, Riyam Tareq Alenezi, Anwar M. Aljassar, Raghad B. Aldosari, Fajer Ali Alkandari, Amnah A. Dashti, Khadeja A. Aldhahi, Hamza A. Abdul‐Hafez, Abdullah M. Alharran   +12 more
wiley   +1 more source