Results 41 to 50 of about 10,576 (237)

The etiology of cardiac hypertrophy in infants

Scientific Reports, 2021
This study aimed to describe the variety of etiologies currently identified in infants with cardiac hypertrophy (CH) and investigate whether there is a relation with hyperinsulinism, echocardiographic characteristics and prognosis.
Raymond Stegeman, Nina D. Paauw, Rosalie de Graaf, Rosa L. E. van Loon, Jacqueline U. M. Termote, Johannes M. P. J. Breur   +5 more
doaj   +1 more source

Congenital Hyperinsulinism International: A Community Focused on Improving the Lives of People Living With Congenital Hyperinsulinism

Frontiers in Endocrinology, 2022
Congenital hyperinsulinism (HI) is a rare disease affecting newborns. HI causes severe hypoglycemia due to the overproduction of insulin. The signs and symptoms of hypoglycemia in HI babies is often not discovered until brain damage has already occurred.
Julie Raskin, Tai L. S. Pasquini, S. Bose, Dina Tallis, J. Schmitt   +4 more
semanticscholar   +1 more source

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

Modern therapeutic aspects in two cases of congenital hyperinsulinism [PDF]

Romanian Journal of Pediatrics, 2020
In this article we will present the therapeutic and clinical aspects found in the case of two pediatric patients diagnosed with congenital hyperinsulinism.
Cristian Minulescu, Dana Spirea
doaj   +1 more source

SUR1-mutant iPS cell-derived islets recapitulate the pathophysiology of congenital hyperinsulinism

Diabetologia, 2021
Congenital hyperinsulinism caused by mutations in the KATP-channel-encoding genes (KATPHI) is a potentially life-threatening disorder of the pancreatic beta cells. No optimal medical treatment is available for patients with diazoxide-unresponsive diffuse
Väinö Lithovius, Jonna Saarimäki-Vire, Diego Balboa, Hazem Ibrahim, H. Montaser, Tom Barsby, T. Otonkoski   +6 more
semanticscholar   +1 more source

Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non‐genetic risk factors in this group

Pediatric Diabetes, 2022
Hyperinsulinism results from inappropriate insulin secretion during hypoglycaemia. Down syndrome is causally linked to a number of endocrine disorders including Type 1 diabetes and neonatal diabetes.
Thomas I. Hewat, T. Laver, J. Houghton, Jonna M. E. Männistö, S. Alvi, S. Brearey, D. Cody, A. Dastamani, Miguel Ángel De Los Santos La Torre, N. Murphy, B. Rami-Merhar, Birgit Wefers, H. Huopio, I. Banerjee, Matthew B. Johnson, S. Flanagan   +15 more
semanticscholar   +1 more source

Continuous Glucose Monitoring in the Management of Neonates With Persistent Hypoglycemia and Congenital Hyperinsulinism

Journal of Clinical Endocrinology and Metabolism, 2021
Background Persistent hypoglycemia is common in the newborn and is associated with poor neurodevelopmental outcome. Adequate monitoring is critical in prevention, but is dependent on frequent, often hourly blood sampling.
M. Win, Rowan Beckett, Lynn Thomson, A. Thankamony, K. Beardsall   +4 more
semanticscholar   +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

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

18F-6-Fluoro-l-Dopa PET/CT Imaging of Congenital Hyperinsulinism.

Journal of Nuclear Medicine, 2021
Congenital hyperinsulinism is characterized by persistent hypoglycemia due to inappropriate excess secretion of insulin resulting in hyperinsulinemic hypoglycemia.
L. States, J. C. Davis, Steven M Hamel, Susan A. Becker, H. Zhuang   +4 more
semanticscholar   +1 more source