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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
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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
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Congenital hyperinsulinism

Medicina, 2014
Hyperinsulinism is the most common cause of hypoglycemia in infants. In many cases conservative treatment is not effective and surgical intervention is required. Differentiation between diffuse and focal forms and localization of focal lesions are the most important issues in preoperative management.
Indrė Petraitienė, Giedrius Barauskas, Antanas Gulbinas, Dalius Malcius, Khalid Hussain, Gilvydas Verkauskas, Rasa Verkauskienė   +6 more
  +7 more sources

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

Congenital Hyperinsulinism

Pediatric Annals, 2017
Congenital hyperinsulinism is a rare disorder that commonly presents in the immediate postnatal period as persistent hypoglycemia. The condition is frequently resistant to medical therapies, and the genetic mutations implicated in the disorder can be predictive of response to therapy.
Elena, Minakova, Alison, Chu
  +5 more sources

Familial Focal Congenital Hyperinsulinism [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2011
Background:Congenital hyperinsulinism (CHI) is a cause of persistent hypoglycemia. Histologically, there are two subgroups, diffuse and focal. Focal CHI is a consequence of two independent events, inheritance of a paternal mutation in ABCC8/KCNJ11 and paternal uniparental isodisomy of chromosome 11p15 within the embryonic pancreas, leading to an ...
Ismail, Dunia, Smith, Virpi V., de Lonlay, Pascale, Ribeiro, Maria-Joao, Rahier, Jacques, Blankenstein, Oliver, Flanagan, Sarah E., Bellanné-Chantelot, Christine, Verkarre, Virginie, Aigrain, Yves, Pierro, Agostino, Ellard, Sian, Hussain, Khalid   +12 more
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Global Registries in Congenital Hyperinsulinism

Frontiers in Endocrinology, 2022
Congenital hyperinsulinism (HI) is the most frequent cause of severe, persistent hypoglycemia in newborn babies and children. There are many areas of need for HI research. Some of the most critical needs include describing the natural history of the disease, research leading to new and better treatments, and identifying and managing hypoglycemia before
Tai L. S. Pasquini, Mahlet Mesfin, Jennifer Schmitt, Julie Raskin   +3 more
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Syndromic forms of congenital hyperinsulinism

Frontiers in Endocrinology, 2023
Congenital hyperinsulinism (CHI), also called hyperinsulinemic hypoglycemia (HH), is a very heterogeneous condition and represents the most common cause of severe and persistent hypoglycemia in infancy and childhood. The majority of cases in which a genetic cause can be identified have monogenic defects affecting pancreatic β-cells and their glucose ...
Martin Zenker, Klaus Mohnike, Katja Palm
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A Case Series: Congenital Hyperinsulinism [PDF]

International Journal of Endocrinology and Metabolism, 2016
Congenital hyperinsulinism is a rare inherited disease caused by mutations in genes responsible for β-cell's function in glucose hemostasis leading to profound and recurrent hypoglycemia. The incidence of the disease is about 1 in 50000 newborns. Mutations in at least 8 genes have been reported to cause congenital hyperinsulinism.
Alaei, Mohammad Reza, Akbaroghli, Susan, Keramatipour, Mohammad, Alaei, Ali   +3 more
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Molecular mechanisms of congenital hyperinsulinism [PDF]

Journal of Molecular Endocrinology, 2015
Congenital hyperinsulinism (CHI) is a complex heterogeneous condition in which insulin secretion from pancreatic β-cells is unregulated and inappropriate for the level of blood glucose. The inappropriate insulin secretion drives glucose into the insulin-sensitive tissues, such as the muscle, liver and adipose tissue, leading to severe hyperinsulinaemic
Sofia A, Rahman, Azizun, Nessa, Khalid, Hussain   +2 more
openaire   +2 more sources