Results 31 to 40 of about 6,169 (207)

Neonatal congenital hyperinsulinism in Indonesia

Journal of Pediatric Surgery Case Reports, 2021
Introduction: Congenital hyperinsulinism (CHI) is resulted from dysregulated insulin secretion from hyperplastic and hyperactive but apparently normally structured β-cells islet.
I.Made Arimbawa, I.Wayan Eka Satriawibawa, Kadek Deddy Ariyanta, I.Made Darmajaya, Pande Putu Yuli Anandasari, Luh Putu Iin Indrayani Maker   +5 more
doaj   +1 more source

Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism

Orphanet Journal of Rare Diseases, 2021
Congenital hyperinsulinism (CHI), a major cause of persistent and recurrent hypoglycemia in infancy and childhood. Numerous pathogenic genes have been associated with 14 known genetic subtypes of CHI.
Wei Zhang, Yan-Mei Sang
doaj   +1 more source

Heterogeneity in Phenotype of Usher-Congenital Hyperinsulinism Syndrome:Hearing Loss, Retinitis Pigmentosa, and Hyperinsulinemic Hypoglycemia Ranging from Severe to Mild with Conversion to Diabetes [PDF]

, 2013
OBJECTIVE: To evaluate the phenotype of 15 children with congenital hyperinsulinism (CHI) and profound hearing loss, known as Homozygous 11p15-p14 Deletion syndrome (MIM #606528).
Al Mutair, Angham N, Al Shaikh, Adnan, Bin-Abbas, Bassam, Brusgaard, Klaus, Christesen, Henrik T, Felimban, Naila, Hussain, Khalid   +6 more
core   +1 more source

Successful use of long acting octreotide in two cases with Beckwith-Wiedemann syndrome and severe hypoglycemia [PDF]

, 2014
INTRODUCTION: Hyperinsulinism associated with Beckwith-Wiedemann syndrome (BWS) can occur in about 50% of cases, causing hypoglycemia of variable severity. Parenteral use of octreotide may be indicated if unresponsive to diazoxide.
Hiba Al-Zubeidi, Michael E Gottschalk, Ron S Newfield   +2 more
core   +1 more source

A combination of nifedipine and octreotide treatment in an hyperinsulinemic hypoglycemic infant. [PDF]

, 2016
PublishedResearch Support, Non-U.S. Gov'tThis is the final version of the article. Available from Galenos Publishing via the DOI in this record.Hyperinsulinemic hypoglycemia (HH) is the commonest cause of persistent hypoglycemia in the neonatal and ...
Akcurin, S, Bircan, I, Durmaz, E, Ellard, S, Flanagan, SE, Parlak, M   +5 more
core   +1 more source

Glucocorticoid-Induced Hyperinsulinism in a Preterm Neonate with Inherited ABCC8 Variant

Metabolites, 2022
Glucose homeostasis is a real challenge for extremely preterm infants (EPIs) who have both limited substrate availability and immature glucose metabolism regulation.
Emmanuelle Motte-Signoret, Cécile Saint-Martin, Christine Bellané-Chantelot, Bernard Portha, Pascal Boileau   +4 more
doaj   +1 more source

Familial Hyperinsulinism due to HNF4A Deficiency and Benign Premature Adrenarche: A Case Report

International Journal of Medical Students, 2021
Background: Familial Hyperinsulinism due to HNF4A deficiency (FHI-HNF4A) is a form of diazoxide-sensitive, diffuse hyperinsulinism, characterized by transient or persistent hyperinsulinemic hypoglycemia, and a propensity to develop Maturity-Onset ...
Edward Compton, David H. Geller, Alaina Vidmar   +2 more
doaj   +1 more source

Characterization of the zebrafish as a model of ATP-sensitive potassium channel hyperinsulinism

BMJ Open Diabetes Research & Care
Introduction Congenital hyperinsulinism (HI) is the leading cause of persistent hypoglycemia in infants. Current models to study the most common and severe form of HI resulting from inactivating mutations in the ATP-sensitive potassium channel (KATP) are
Diva D De León, Christine A Juliana, Joshua Benjet   +2 more
doaj   +1 more source

Congenital hyperinsulinism in newborns and young children: the state of the problem and the results of surgical treatment

Медицинский совет, 2021
Congenital hyperinsulinism causes irreversible damage to the cerebral cortex with subsequent disability in children. The article presents the features of etiopathogenesis, clinical picture of the disease.
A. A. Sukhotskaya, V. G. Bairov, I. L. Nikitina, L. B. Mitrofanova, A. A. Perminova, D. V. Ryzhkova   +5 more
doaj   +1 more source

Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism

Clinical Case Reports, 2020
Advances in genomics and 18F‐DOPA PET‐CT imaging have transformed the management of infants with Congenital Hyperinsulinism. Preoperative diagnosis of focal hyperinsulinism permits limited pancreatectomy with improved clinical outcomes while knowledge of
Caroline M. Joyce, Jayne A. Houghton, Domhnall J. O’Halloran, Paula M. O’Shea, Susan M. O’Connell   +4 more
doaj   +1 more source