Results 21 to 30 of about 245,105 (180)

[Congenital hyperinsulinism].

Ugeskrift for laeger, 2001
In the last five years, our knowledge about the heterogenous syndrome of congenital hyperinsulinism (HI) has expanded explosively. HI may be familiar or sporadic, mild or severe, transitory or persistent, and histologically focal or diffuse. At least 63 disease-causing mutations have been found in the genes for the beta cell's ATP-dependent potassium ...
H B, Christesen, K, Brusgaard, B B, Jacobsen   +2 more
core   +3 more sources

Congenital hyperinsulinism

Congenital hyperinsulinism (CHI) is a rare cause of hypoglycemia caused by dysregulated and excessive production of insulin in neonates and infants. CHI is associated with significant morbidity and is responsible for brain injury in many patients.
Sarah E. Flanagan, Maria Salomon Estebanez, Mohamad Guftar Shaikh, Chris Worth, Ross Craigie, Karen E. Cosgrove, Julie Raskin, Indraneel Banerjee   +7 more
openaire   +2 more sources

Neurodevelopmental outcomes and neurophysiological parameters in children with congenital hyperinsulinism [PDF]

Медицинский совет, 2022
Introduction. Congenital hyperinsulinism is a rare group of genetic disorders resulting in persistent hypoglycemia which can lead to delay of neurodevelopment.Aim.
I. L. Nikitina, L. R. Sarakaeva, V. G. Bairov, A. A. Sukhotskaya, A. P. Smorodin, D. V. Ryzhkova, L. B. Mitrofanova, E. A. Eftich, M. A. Melikyan, I. A. Kelmanson   +9 more
doaj   +2 more sources

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   +3 more sources

Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity

Genome Medicine
Background We recently reported non-coding variants in a cis-regulatory element of the beta-cell disallowed gene hexokinase 1 (HK1) as a novel cause of congenital hyperinsulinism.
Jasmin J. Bennett, Cécile Saint-Martin, Bianca Neumann, Jonna M. E. Männistö, Jayne A. L. Houghton, Susann Empting, Matthew B. Johnson, Thomas W. Laver, Jonathan M. Locke, Benjamin Spurrier, Matthew N. Wakeling, Indraneel Banerjee, Antonia Dastamani, Hüseyin Demirbilek, John Mitchell, Markus Stange, International Congenital Hyperinsulinism Consortium, Klaus Mohnike, Jean-Baptiste Arnoux, Nick D. L. Owens, Martin Zenker, Christine Bellanné-Chantelot, Sarah E. Flanagan   +22 more
doaj   +2 more sources

Case Report: Two Distinct Focal Congenital Hyperinsulinism Lesions Resulting From Separate Genetic Events

Frontiers in Pediatrics, 2021
Focal hyperinsulinism (HI) comprises nearly 50% of all surgically treated HI cases and is cured if the focal lesion can be completely resected. Pre-operative localization of the lesion is thus critical.
Elizabeth Rosenfeld, Elizabeth Rosenfeld, Lauren Mitteer, Lauren Mitteer, Kara Boodhansingh, Kara Boodhansingh, Susan A. Becker, Susan A. Becker, Heather McKnight, Heather McKnight, Linda Boyajian, Linda Boyajian, Amanda M. Ackermann, Amanda M. Ackermann, Amanda M. Ackermann, Jennifer M. Kalish, Jennifer M. Kalish, Jennifer M. Kalish, Tricia R. Bhatti, Tricia R. Bhatti, Lisa J. States, Lisa J. States, N. Scott Adzick, N. Scott Adzick, Katherine Lord, Katherine Lord, Katherine Lord, Diva D. De León, Diva D. De León, Diva D. De León   +29 more
doaj   +1 more source

New approaches to screening and management of neonatal hypoglycemia based on improved understanding of the molecular mechanism of hypoglycemia

Frontiers in Pediatrics, 2023
For the past 70 years, controversy about hypoglycemia in newborn infants has focused on a numerical “definition of neonatal hypoglycemia”, without regard to its mechanism.
Charles A. Stanley, Charles A. Stanley, Paul S. Thornton, Paul S. Thornton, Diva D. De Leon, Diva D. De Leon   +5 more
doaj   +1 more source

Congenital Hyperinsulinism

NeoReviews, 2021
Hyperinsulinemic hypoglycemia (HH) is fairly common in neonates, particularly those born to diabetic mothers and those who are either large or small for gestational age. Immediate management of the disease focuses on achieving normoglycemia through frequent high-calorie feedings and/or intravenous glucose administration.
Neha Goel, Shobhna Gupta, Rajni Sharma, Sugandha Arya   +3 more
openaire   +4 more sources

Germline and somatic mutations in histologically atypical congenital hyperinsulinism [PDF]

Frontiers in Endocrinology
Anne Lerberg Nielsen
exaly   +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