Results 11 to 20 of about 3,174 (161)
Clinical Report and Genetic Analysis of a Patient With Congenital Hyperinsulinism Hyperammonemia Caused by a Novel Missense Mutation in the Structural Domain of the Isoform of the GLUD1 Gene. [PDF]
Clin Case RepThis patient was admitted to the hospital 43 h after birth with convulsions and hypoglycemia, presenting as recurrent refractory hypoglycemia that was difficult to control with conventional medication. Whole exome sequencing detected the GLUD1 (NM_005271.3:c.1495G>T, p.Gly499Cys) variant, which was a de novo variant in the patient and was not detected ...
Li T +6 more
europepmc +2 more sources
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 +29 more
doaj +1 more source
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 +3 more
openaire +4 more sources
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 +5 more
doaj +1 more source
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
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 +15 more
+5 more sources
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 +2 more
doaj +1 more source
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
Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion. [PDF]
PLoS ONE, 2008 Although the most common mechanism underlying congenital hyperinsulinism is dysfunction of the pancreatic ATP-sensitive potassium channel, the pathogenesis and genetic origins of this disease remains largely unexplained in more than half of all patients.
M Mar González-Barroso +8 more
doaj +1 more source
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 +8 more
doaj +1 more source