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Syndromic forms of congenital hyperinsulinism [PDF]

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.
Martin Zenker, Klaus Mohnike, Katja Palm
doaj   +5 more sources

Global Registries in Congenital Hyperinsulinism [PDF]

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.
Tai L. S. Pasquini, Mahlet Mesfin, Jennifer Schmitt, Julie Raskin   +3 more
doaj   +5 more sources

Congenital hyperinsulinism and panhypopituitarism: a rare combination [PDF]

Endocrinology, Diabetes & Metabolism Case Reports, 2023
Neonatal hypoglycemia is a serious condition that can have a major impact on the growing neonatal brain. The differential diagnosis of neonatal hypoglycemia is broad and includes hyperinsulinism as well as panhypopituitarism.
Foram Patel, Ginger Darling, Ahmed Torky
doaj   +5 more sources

The p.(Gly111Arg) ABCC8 Variant: A Founder Mutation Causing Congenital Hyperinsulinism in the Indian Agarwal Community. [PDF]

Clin Genet
Loss‐of‐function ABCC8 variants are the commonest cause of congenital hyperinsulinism. On a systematic search of our databases, the p.(Gly111Arg) ABCC8 variant was identified in 26 individuals, of which 23 were from the Indian Agarwal community. Haplotype analysis subsequently confirmed that p.(Gly111Arg) is a founder variant in the Agarwal population.
Jain V, Radha V, Mohan V, Wakeling MN, Bennett JJ, Flanagan SE.   +5 more
europepmc   +3 more sources

Standardised practices in the networked management of congenital hyperinsulinism: a UK national collaborative consensus. [PDF]

Front Endocrinol (Lausanne), 2023
Congenital hyperinsulinism (CHI) is a condition characterised by severe and recurrent hypoglycaemia in infants and young children caused by inappropriate insulin over-secretion.
Shaikh MG, Lucas-Herald AK, Dastamani A, Salomon Estebanez M, Senniappan S, Abid N, Ahmad S, Alexander S, Avatapalle B, Awan N, Blair H, Boyle R, Chesover A, Cochrane B, Craigie R, Cunjamalay A, Dearman S, De Coppi P, Erlandson-Parry K, Flanagan SE, Gilbert C, Gilligan N, Hall C, Houghton J, Kapoor R, McDevitt H, Mohamed Z, Morgan K, Nicholson J, Nikiforovski A, O'Shea E, Shah P, Wilson K, Worth C, Worthington S, Banerjee I.   +35 more
europepmc   +2 more sources

Developing a congenital hyperinsulinism prioritized research agenda: a patient-driven international collaborative research network [PDF]

Frontiers in Endocrinology
IntroductionCongenital Hyperinsulinism (HI) is a rare disease that causes severe and recurrent hypoglycemia due to dysregulated insulin secretion. HI is the most frequent cause of severe, persistent hypoglycemia in newborns and children.
Tai L. S. Pasquini, Indraneel Banerjee, Henrik Thybo Christesen, Louise S. Conwell, Antonia Dastamani, Diva D. De Leon, Sarah E. Flanagan, David Gillis, Jennifer M. Kalish, Katherine Lord, Mahlet Mesfin, Jennifer Schmitt, Senthil Senniappan, Charles A. Stanley, Paul S. Thornton, David Zangen, Julie Raskin, the Congenital Hyperinsulinism Collaborative Research Network Members   +17 more
doaj   +2 more sources

Phenotypic Characterization of Congenital Hyperinsulinism Due to Novel Activating Glucokinase Mutations. [PDF]

Diabetes, 2023
The importance of glucokinase (GK) in the regulation of insulin secretion has been highlighted by the phenotypes of individuals with activating and inactivating mutations in the glucokinase gene (GCK).
Li C, Juliana CA, Yuan Y, Li M, Lu M, Chen P, Boodhansingh KE, Doliba NM, Bhatti TR, Adzick NS, Stanley CA, De León DD.   +11 more
europepmc   +2 more sources

A Focal Form of Diazoxide-resistant Congenital Hyperinsulinism with Good Response to Long-acting Somatostatin. [PDF]

J ASEAN Fed Endocr Soc
A four-year-old female who was born term via spontaneous vaginal delivery (SVD) with a birth weight of 3.4 kg had an onset of persistent hypoglycaemia at the 6th hour of life.
Hussain S, Mohd Fezal NS, Flanagan S.
europepmc   +2 more sources

Proposed Screening for Congenital Hyperinsulinism in Newborns: Perspective from a Neonatal-Perinatal Medicine Group. [PDF]

J Clin Med
This perspective work by academic neonatal providers is written specifically for the audience of newborn care providers and neonatologists involved in neonatal hypoglycemia screening. Herein, we propose adding a screen for congenital hyperinsulinism (CHI)
Kaiser JR, Amatya S, Burke RJ, Corr TE, Darwish N, Gandhi CK, Gasda A, Glass KM, Kresch MJ, Mahdally SM, McGarvey MT, Mola SJ, Murray YL, Nissly K, Santiago-Aponte NM, Valencia JC, Palmer TW.   +16 more
europepmc   +2 more sources

Clinical management of diazoxide-unresponsive congenital hyperinsulinism: A single-center experience. [PDF]

Clin Pediatr Endocrinol
. The most common cause of persistent hypoglycemia in newborns and children is congenital hyperinsulinism (CHI). Remarkable advancements in diagnostic tools and treatments, including novel imaging and genetic techniques, and continuous subcutaneous ...
Takasawa K, Iemura R, Orimoto R, Yamano H, Kirino S, Adachi E, Saito Y, Yamamoto K, Matsuda N, Takishima S, Shuno K, Tajima H, Sugie M, Mizuno Y, Sutani A, Okamoto K, Masue M, Morio T, Kashimada K.   +18 more
europepmc   +2 more sources