Results 31 to 40 of about 10,623 (193)

Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism

Orphanet Journal of Rare Diseases, 2021
Congenital hyperinsulinism (CHI), a major cause of persistent and recurrent hypoglycemia in infancy and childhood. Numerous pathogenic genes have been associated with 14 known genetic subtypes of CHI.
Wei Zhang, Yan-Mei Sang
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

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

Congenital hyperinsulinism due to mutations in HNF1A

, 2020
Congenital hyperinsulinism is a rare but significant cause of severe and persistent hypoglycaemia in infancy. Although a biphasic phenotype of congenital hyperinsulinism in infancy followed by Maturity-Onset Diabetes of the Young (MODY) in later life has
Colclough, Kevin
core   +1 more source

Activation of Protein Kinase A (PKA) signaling mitigates congenital hyperinsulinism associated hypoglycemia in the Sur1-/- mouse model.

PLoS ONE, 2020
There is a significant unmet need for a safe and effective therapy for the treatment of children with congenital hyperinsulinism. We hypothesized that amplification of the glucagon signaling pathway could ameliorate hyperinsulinism associated ...
Mangala M Soundarapandian, Christine A Juliana, Jinghua Chai, Patrick A Haslett, Kevin Fitzgerald, Diva D De León   +5 more
doaj   +1 more source

Hyperinsulinemic Hypoglycemia and Growth Hormone Deficiency Secondary to 20p11 Deletion

Case Reports in Endocrinology, 2023
Hypoglycemia is concerning for neurological complications in infants and children. Determining the cause of hypoglycemia is essential in providing appropriate treatment.
Erica Wee, John Herriges, Kavitha Dileepan, Sarah L. Tsai, Joseph T. Alaimo, Emily Paprocki   +5 more
doaj   +1 more source

Characterization of the zebrafish as a model of ATP-sensitive potassium channel hyperinsulinism

BMJ Open Diabetes Research & Care
Introduction Congenital hyperinsulinism (HI) is the leading cause of persistent hypoglycemia in infants. Current models to study the most common and severe form of HI resulting from inactivating mutations in the ATP-sensitive potassium channel (KATP) are
Diva D De León, Christine A Juliana, Joshua Benjet   +2 more
doaj   +1 more source

The diagnosis and management of congenital and adult-onset hyperinsulinism (nesidioblastosis) – literature review

, 2017
Congenital and adult-onset hyperinsulinism (CHI) must be taken under consideration in the differential diagnosis of hypoglycaemia symptoms with endogenous hyperinsulinism, especially in cases in which there was failure to find an insulinoma. Histological
Andrzej Marszałek, Adam M. Kowalewski, Łukasz Szylberg, Anna Kasperska   +3 more
core   +1 more source

Real-world experience with the use of diazoxide among people living with congenital hyperinsulinism and their caregivers

Frontiers in Endocrinology
IntroductionCongenital hyperinsulinism (HI) is a rare disease that causes severe hypoglycemia. Diazoxide is the first-line treatment; however, many individuals using diazoxide continue to experience hypoglycemia. Diazoxide is associated with side effects
Tai L. S. Pasquini, Kristen E. Rohli, Fiona J. Almeida, Indraneel Banerjee, Antonia Dastamani, Diva D. De Leon, Lauren N. Lopez, Paul S. Thornton, Julie Raskin   +8 more
doaj   +1 more source

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