Results 81 to 90 of about 510,633 (288)

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

Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations [PDF]

, 2011
Dominantly acting loss-of-function mutations in the ABCC8/KCNJ11 genes can cause mild medically responsive hyperinsulinaemic hypoglycaemia (HH). As controversy exists over whether these mutations predispose to diabetes in adulthood we investigated the ...
Ellard, S, Flanagan, SE, Harmer, SC, Hussain, K, James, CT, Kapoor, RR, McKiernan, J, Shield, JP, Thomas, AM, Tinker, A   +9 more
core   +4 more sources

The birth prevalence of congenital hyperinsulinism: a narrative review of the epidemiology of a rare disease.

Hormone Research in Paediatrics
Background Congenital hyperinsulinism (HI) is a rare pediatric disease and the most common cause of severe, persistent hypoglycemia in childhood. It is characterized by the dysregulation of insulin secretion from the pancreas and can lead to irreversible
David Lapidus, Diva D. De León, Paul S Thornton, Davelyn Hood, Jeffrey Breit, Julie Raskin, Tai L. S. Pasquini   +6 more
semanticscholar   +1 more source

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

A combination of nifedipine and octreotide treatment in an hyperinsulinemic hypoglycemic infant. [PDF]

, 2016
PublishedResearch Support, Non-U.S. Gov'tThis is the final version of the article. Available from Galenos Publishing via the DOI in this record.Hyperinsulinemic hypoglycemia (HH) is the commonest cause of persistent hypoglycemia in the neonatal and ...
Akcurin, S, Bircan, I, Durmaz, E, Ellard, S, Flanagan, SE, Parlak, M   +5 more
core   +1 more source

Stem Cell Based Models in Congenital Hyperinsulinism - Perspective on Practicalities and Possibilities [PDF]

, 2022
Congenital hyperinsulinism (CHI) is a severe inherited neonatal disorder characterized by inappropriate insulin secretion caused by genetic defects of the pancreatic beta cells. Several open questions remain in CHI research, such as the optimal treatment
Lithovius, Väinö, Otonkoski, Timo
core   +1 more source

Dasiglucagon in Children with Congenital Hyperinsulinism up to 1 Year of Age: Results from a Randomized Clinical Trial.

Journal of Clinical Endocrinology and Metabolism
CONTEXT Congenital hyperinsulinism (CHI) is a cause of persistent hypoglycemia in childhood with considerable risk of lifelong neurological sequelae. Available pharmacological therapies are limited.
Diva D. De León, Indraneel Banerjee, Sebastian Kummer, Sune Birch, Eva Bøge, J. Ivkovic, David M Kendall, Paul S Thornton   +7 more
semanticscholar   +1 more source

Congenital Hyperinsulinism: Diagnosis and Treatment Update

Journal of Clinical Research in Pediatric Endocrinology, 2018
Pancreatic β-cells are finely tuned to secrete insulin so that plasma glucose levels are maintained within a narrow physiological range (3.5-5.5 mmol/L). Hyperinsulinaemic hypoglycaemia (HH) is the inappropriate secretion of insulin in the presence of low plasma glucose levels and leads to severe and persistent hypoglycaemia in neonates and children ...
Hüseyin Demirbilek, Khalid Hussain
openalex   +5 more sources

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

Juvenile hyperinsulinism in a Maine Coon kitten

Journal of Feline Medicine and Surgery Open Reports, 2022
Case summary A 5.5 month-old intact male Maine Coon cat was presented to a referral hospital for a history of muscle fasciculations, lethargy and seizures associated with refractory hypoglycemia.
Matthew Kornya, Anthony Abrams-Ogg, Dominique Comeau, Jeff Caswell   +3 more
doaj   +1 more source