Results 11 to 20 of about 510,633 (288)

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

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, Sheila Bose, Dina Tallis, Jennifer Schmitt   +4 more
doaj   +4 more sources

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.
Indrė Petraitienė, Giedrius Barauskas, Antanas Gulbinas, Dalius Malcius, Khalid Hussain, Gilvydas Verkauskas, Rasa Verkauskienė   +6 more
doaj   +4 more sources

Genotype-phenotype correlation in Taiwanese children with diazoxide-unresponsive congenital hyperinsulinism. [PDF]

Front Endocrinol (Lausanne), 2023
Objective Congenital hyperinsulinism (CHI) is a group of clinically and genetically heterogeneous disorders characterized by dysregulated insulin secretion.
Lee CT, Tsai WH, Chang CC, Chen PC, Fann CS, Chang HK, Liu SY, Wu MZ, Chiu PC, Hsu WM, Yang WS, Lai LP, Tsai WY, Yang SB, Chen PL.   +14 more
europepmc   +2 more sources

Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families

Orphanet Journal of Rare Diseases, 2022
Background Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and children, and carries a considerable risk of neurological damage and developmental delays if diagnosis and treatment are delayed. Despite rapid
Indraneel Banerjee, Julie Raskin, Jean-Baptiste Arnoux, Diva D. De Leon, Stuart A. Weinzimer, Mette Hammer, David M. Kendall, Paul S. Thornton   +7 more
doaj   +2 more sources

Dasiglucagon for the Treatment of Congenital Hyperinsulinism: A Randomized Phase 3 Trial in Infants and Children.

J Clin Endocrinol Metab, 2023
Context Congenital hyperinsulinism (CHI) is characterized by dysregulated insulin secretion causing hypoglycemia and consequent brain damage. Dasiglucagon is a glucagon analogue under investigation to treat CHI.
Thornton PS, De Leon DD, Empting S, Zangen D, Kendall DM, Birch S, Bøge E, Ivkovic J, Banerjee I.   +8 more
europepmc   +2 more sources

Congenital Hyperinsulinism: Current Laboratory-Based Approaches to the Genetic Diagnosis of a Heterogeneous Disease

Frontiers in Endocrinology, 2022
Congenital hyperinsulinism is characterised by the inappropriate release of insulin during hypoglycaemia. This potentially life-threatening disorder can occur in isolation, or present as a feature of syndromic disease.
Thomas I. Hewat, Matthew B. Johnson, Sarah E. Flanagan   +2 more
doaj   +2 more sources

Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements. [PDF]

Eur J Hum Genet
Persistent congenital hyperinsulinism (HI) is a rare genetically heterogeneous condition characterised by dysregulated insulin secretion leading to life-threatening hypoglycaemia. For up to 50% of affected individuals screening of the known HI genes does
Laver TW, Wakeling MN, Caswell RC, Bunce B, Yau D, Männistö JME, Houghton JAL, Hopkins JJ, Weedon MN, Saraff V, Kershaw M, Honey EM, Murphy N, Giri D, Nath S, Tangari Saredo A, Banerjee I, Hussain K, Owens NDL, Flanagan SE.   +19 more
europepmc   +2 more sources

K_ATP channel mutations in congenital hyperinsulinism: Progress and challenges towards mechanism-based therapies. [PDF]

Front Endocrinol (Lausanne), 2023
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy/childhood and is a serious condition associated with severe recurrent attacks of hypoglycemia due to dysregulated insulin secretion.
ElSheikh A, Shyng SL.
europepmc   +2 more sources

Case report: A novel HNF1A variant linked to gestational diabetes, congenital hyperinsulinism, and diazoxide hypersensitivity. [PDF]

Front Endocrinol (Lausanne)
Diazoxide (DZX) remains the first-line medication for the treatment of prolonged and persistent forms of hyperinsulinemic hypoglycemia (HH). In nearly 40%–50% of cases of HH, the genetic mechanism is unidentified.
Chandran S, Verma D, Rajadurai VS, Yap F.   +3 more
europepmc   +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.
Christoffer Drabløs Velde, Hallvard Reigstad, E. Tjora, Hans Jørgen Timm Guthe, Eirik Vangsøy Hansen, Anders Molven, Pål R. Njølstad   +6 more
semanticscholar   +3 more sources