Results 11 to 20 of about 4,191 (204)

Characterization of congenital hyperinsulinism in Argentina: Clinical features, genetic findings, and treatment outcomes. [PDF]

PLoS One
Pacheco G, Bastida MG, Cáceres J, Alonso G, Aziz M, Suarez M, Flores A, Femenia V, Forclaz MV, Houghton JAL, Bennett JJ, Martin S, Flanagan SE, Tangari-Saredo A.   +13 more
europepmc   +4 more sources

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

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

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

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

Congenital hyperinsulinism due to NEUROD1 gene mutation [PDF]

Annals of Pediatric Endocrinology & Metabolism
In Kim, Chong Kun Cheon
doaj   +2 more sources

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

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

Congenital hyperinsulinism

Early Human Development, 2010
Congenital hyperinsulinism (CHI or HI) is a condition leading to recurrent hypoglycemia due to an inappropriate insulin secretion by the pancreatic islet beta cells. HI has two main characteristics: a high glucose requirement to correct hypoglycemia and a responsiveness of hypoglycemia to exogenous glucagon.
Jean-Baptiste, Arnoux, Pascale, de Lonlay, Maria-Joao, Ribeiro, Khalid, Hussain, Oliver, Blankenstein, Klaus, Mohnike, Vassili, Valayannopoulos, Jean-Jacques, Robert, Jacques, Rahier, Christine, Sempoux, Christine, Bellanné, Virginie, Verkarre, Yves, Aigrain, Francis, Jaubert, Francis, Brunelle, Claire, Nihoul-Fékété   +15 more
  +5 more sources

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