Results 71 to 80 of about 10,623 (193)

The molecular mechanisms, diagnosis and management of congenital hyperinsulinism

Indian Journal of Endocrinology and Metabolism, 2013
Congenital hyperinsulinism (CHI) is the result of unregulated insulin secretion from the pancreatic β-cells leading to severe hypoglycaemia. In these patients it is important to make an accurate diagnosis and initiate the appropriate management so as to ...
Senthil Senniappan, Ved Bhushan Arya, Khalid Hussain   +2 more
doaj   +1 more source

Persistent hyperinsulinism in Kabuki syndrome 2: case report and literature review

, 2016
Kabuki syndrome is a clinically and genetically heterogeneous congenital malformation syndrome with protean clinical manifestations. This reflects the important epigenetic role in embryonic development of the two genes currently known to be associated ...
Chuk, Raymond, Raymond Chuk, Coman, David, David Coman, Gole, Hobia, Hobia Gole   +5 more
core   +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

Cardiovascular Health in Women—Across the Lifespan

Clinical Endocrinology, Volume 104, Issue 6, Page 539-555, June 2026.
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

Congenital Hyperinsulinism: A Novel Mutation in the KCNJ11 Gene

, 2017
Introduction Hyperinsulinism is the most common cause of both transient and persistent hypoglycemia in the neonatal period. Hyperinsulinism due to mutations in the ATP-sensitive potassium channel encoded by the KCNJ11 and ABCC8 genes cause the most ...
Flanagan, Sarah E., Bala, Keziban Asli, Demir, Nihat, Kocaman, Selami, Tuncer, Oğuz   +4 more
core   +1 more source

Avaliação do hiperinsulinismo em amostra de crianças pré-puberes Hyperinsulinism assessment in a sample of prepubescent children

Jornal de Pediatria, 2010
OBJETIVOS: Determinar a relação entre o índice de massa corporal (IMC), o homeostasis model assessment - insulin resistance (HOMA-IR) e a insulinemia. MÉTODOS: Realizou-se um estudo observacional prospectivo transversal com 132 crianças pré-púberes em ...
Stephanye Felicye Armecy Mieldazis, Ligia Ajaime Azzalis, Virginia Berlanga Campos Junqueira, Fabíola Isabel Suano Souza, Roseli Oselka Sacardo Sarni, Fernando Luiz Affonso Fonseca   +5 more
doaj   +1 more source

Siblings With Congenital Hyperinsulinism From Possible Parental Gonadal Mosaicism

, 2023
Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in early infancy. Mutations in the gene for heterozygous hepatocyte nuclear transcription factor 4-alpha () account for approximately 5% of cases and are inherited in an ...
Eimicke, Toni, Swartz, Jonathan, Wolschendorf, Robin   +2 more
core   +1 more source

Genotype–Phenotype Spectrum of Non‐Syndromic Monogenic Obesity in a National Paediatric Cohort

Pediatric Obesity, Volume 21, Issue 6, June 2026.
ABSTRACT Objective Non‐syndromic monogenic obesity, caused by defects in the leptin‐melanocortin pathway, presents with early‐onset severe obesity and hyperphagia, but genotype–phenotype and metabolic correlations across different genetic forms remain unclear.
Ahmet Kahveci, Selin Uzun Karauzum, Hayrullah Manyas, Behiye Sarikaya Ozdemir, Zerrin Orbak, Ummahan Tercan, Ruken Yildirim, Nihal Hatipoglu, Fatih Kilci, Hatice Nursoy, Servan Ozalkak, Baris Kolbasi, Semra Cetinkaya, Hazal Canbaz Ozdemir, Mesut Parlak, Filiz Tutunculer Kokenli, Emine Camtosun, Saime Ergen Dibeklioglu, Gonul Buyukyilmaz, Ayse Derya Bulus, Hanife Gul Balki, Ayse Ozden, E. Nazli Gonc, Elif Ozsu, Huseyin Demirbilek, Melek Yildiz, Samim Ozen, Abdullah Bereket, Belma Haliloglu   +28 more
wiley   +1 more source

Congenital hyperinsulinism and mosaic abnormalities of the ploidy.

, 2006
BACKGROUND: Congenital hyperinsulinism and Beckwith-Wiedemann syndrome both lead to beta islet hyperplasia and neonatal hypoglycaemia. They may be related to complex genetic/epigenetic abnormalities of the imprinted 11p15 region.
Rahier, J., Nihoul-Fékété, C., Hubert, L, Brunelle, F., Bellanné-Chantelot, C, Henquin, J. C., de Lonlay, P, Giurgea, I, De Lonlay, P., Rahier, Jacques, Robert, J. J., Vekemans, M, Groos, M. S., Dunne, M. J., Fournet, J-C, Touati, G, Jaubert, F., Dunne, M J, Junien, C., Vekemans, M., Jaubert, F, Robert, J-J, Bellanné-Chantelot, C., Sempoux, Christine, Sempoux, C., Sanlaville, D, Touati, G., Groos, M-S, Henquin, Jean-Claude, Sanlaville, D., Giurgea, Irina, Fournet, J. C., Brunelle, F, Nihoul-Fékété, C, Hubert, L.   +34 more
core   +1 more source

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

JIMD Reports, 2020
Background Phosphomannomutase 2 deficiency (PMM2‐CDG) is the most common congenital disorder of glycosylation (CDG). Hypoglycemia has been reported in various CDG including PMM2‐CDG.
Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, Gregory M. Enns, Carolyn Ellaway, Shanti Balasubramaniam, Pascale De Lonlay, David Coman, Saadet Mercimek‐Andrews, Peter Witters, Eva Morava   +10 more
doaj   +1 more source