Results 21 to 30 of about 6,576 (240)

Congenital hyperinsulinism

Tidsskrift for Den norske legeforening, 2023
This clinical review will give doctors who work with children and neonates an introduction to the diagnosis and treatment of congenital hyperinsulinism, the most common cause of persistent neonatal hypoglycaemia. The condition is a rare monogenic disorder characterised by elevated insulin secretion and is a result of mutations in genes that regulate ...
Christoffer Drabløs, Velde, Hallvard, Reigstad, Erling, Tjora, Hans Jørgen Timm, Guthe, Eirik Vangsøy, Hansen, Anders, Molven, Pål Rasmus, Njølstad   +6 more
openaire   +2 more sources

Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion. [PDF]

PLoS ONE, 2008
Although the most common mechanism underlying congenital hyperinsulinism is dysfunction of the pancreatic ATP-sensitive potassium channel, the pathogenesis and genetic origins of this disease remains largely unexplained in more than half of all patients.
M Mar González-Barroso, Irina Giurgea, Fredéric Bouillaud, Andrea Anedda, Christine Bellanné-Chantelot, Laurence Hubert, Yves de Keyzer, Pascale de Lonlay, Daniel Ricquier   +8 more
doaj   +1 more source

Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families

Orphanet Journal of Rare Diseases, 2022
Background Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and children, and carries a considerable risk of neurological damage and developmental delays if diagnosis and treatment are delayed. Despite rapid
Indraneel Banerjee, Julie Raskin, Jean-Baptiste Arnoux, Diva D. De Leon, Stuart A. Weinzimer, Mette Hammer, David M. Kendall, Paul S. Thornton   +7 more
doaj   +1 more source

Transient congenital hyperinsulinism and hemolytic disease of a newborn despite rhesus D prophylaxis: a case report

Journal of Medical Case Reports, 2021
Background In neonates, rhesus D alloimmunization despite anti-D immunoglobulin prophylaxis is rare and often unexplained. Rhesus D alloimmunization can lead to hemolytic disease of the newborn with anemia and unconjugated hyperbilirubinemia.
Sandra Simony Tornoe Riis, Marianne Hoerby Joergensen, Kristina Fruerlund Rasmussen, Steffen Husby, Jane Preuss Hasselby, Lise Borgwardt, Klaus Brusgaard, Christina Ringmann Fagerberg, Henrik Thybo Christesen   +8 more
doaj   +1 more source

Health-Related Quality of Life of Children and Adolescents With Congenital Hyperinsulinism – A Scoping Review

Frontiers in Endocrinology, 2021
IntroductionDespite improvements in diagnosis and therapeutic advances in treatment, congenital hyperinsulinism (CHI) remains a severe disease with high patient impairment.
Kaja Kristensen, Julia Quitmann, Stefanie Witt   +2 more
doaj   +1 more source

Congenital hyperinsulinism in a newborn presenting with poor feeding

SAGE Open Medical Case Reports, 2022
Hyperinsulinemic hypoglycemia is a condition linked to several genetic, metabolic, and growth disorders in which there is dysregulated insulin secretion.
Kiran Mazloom, Pedro A Sanchez-Lara, Seth Langston, Katheryn Grand, Bahareh Schweiger   +4 more
doaj   +1 more source

Indocyanine Green (ICG)-Guided Identification of Hypermetabolic Pancreatic Nodules in Focal Congenital Hyperinsulinism: A Case Report in a 3-Month-Old Infant

European Journal of Pediatric Surgery Reports, 2022
Indocyanine green (ICG)-guided near-infrared fluorescence has been recently adopted in pediatric surgery, although its use in the treatment of congenital hyperinsulinism has not been reported.
Carlos Delgado-Miguel, Antonio Muñoz-Serrano, Lucas Moratilla, María del Carmen Sarmiento, Miriam Miguel-Ferrero, Nuria Leal, Saturnino Barrena, Leopoldo Martínez   +7 more
doaj   +1 more source

Clinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia [PDF]

, 2015
Objective: To study the clinical and molecular characteristics of a sample of Brazilian patients with Congenital Hyperinsulinemic Hypoglycemia (CHH).Methods: Electronic message was sent to members from Endocrinology Department-Brazilian Society of ...
Della Manna, Thais, Guerra, Gil, Liberatore, Raphael Del Roio, Martinelli Junior, Carlos Eduardo, Ramos, Priscila Manzini, Silva, Ivani Novato   +5 more
core   +6 more sources

Hypertrophic cardiomyopathy in neonates with congenital hyperinsulinism [PDF]

Archives of Disease in Childhood - Fetal and Neonatal Edition, 2013
Hypertrophic cardiomyopathy (HCM) is a well-recognised complication in infants of diabetic mothers and is attributed to a compensatory increase in fetal insulin secretion. Infants with congenital hyperinsulinism have excessive prenatal and postnatal insulin secretion due to defects in pathways of insulin secretion (most commonly the KATP channel).
Tingting Huang, Andrea Kelly, Susan Becker, Meryl S. Cohen, Charles A. Stanley   +4 more
openalex   +4 more sources

Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations [PDF]

, 2009
Background: Activating mutations in the GLUD1 gene (which encodes for the intra-mitochondrial enzyme glutamate dehydrogenase, GDH) cause the hyperinsulinism–hyperammonaemia (HI/HA) syndrome.
Banerjee, I., Ben-Omran, T., Chadefaux, B., Chakrapani, A., Ellard, S., Flanagan, S. E, Fulton, P., Hussain, K., Kapoor, R. R, Shield, J. P   +9 more
core   +2 more sources