Results 11 to 20 of about 14,092 (208)

Avaliação do hiperinsulinismo em amostra de crianças pré-puberes Hyperinsulinism assessment in a sample of prepubescent children [PDF]

open access: yesJornal de Pediatria, 2010
OBJETIVOS: Determinar a relação entre o índice de massa corporal (IMC), o homeostasis model assessment - insulin resistance (HOMA-IR) e a insulinemia. MÉTODOS: Realizou-se um estudo observacional prospectivo transversal com 132 crianças pré-púberes em ...
Stephanye Felicye Armecy Mieldazis   +5 more
doaj   +2 more sources

Hyperinsulinism–hyperammonemia syndrome associated with GLUD1 gene mutation: a case series [PDF]

open access: yesJournal of Medical Case Reports
Background Congenital hyperinsulinism is a rare disorder characterized by inappropriate insulin secretion, leading to persistent hypoglycemia. One genetic subtype, hyperinsulinism–hyperammonemia syndrome, results from activating mutations in the GLUD1 ...
Miral M. Abdulghfar   +3 more
doaj   +2 more sources

Case Report: Two Distinct Focal Congenital Hyperinsulinism Lesions Resulting From Separate Genetic Events

open access: yesFrontiers 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

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

open access: yesFrontiers 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

New approaches to screening and management of neonatal hypoglycemia based on improved understanding of the molecular mechanism of hypoglycemia

open access: yesFrontiers 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

The etiology of cardiac hypertrophy in infants

open access: yesScientific Reports, 2021
This study aimed to describe the variety of etiologies currently identified in infants with cardiac hypertrophy (CH) and investigate whether there is a relation with hyperinsulinism, echocardiographic characteristics and prognosis.
Raymond Stegeman   +5 more
doaj   +1 more source

Congenital hyperinsulinism

open access: yesTidsskrift 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   +6 more
openaire   +2 more sources

Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion. [PDF]

open access: yesPLoS 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

Transient congenital hyperinsulinism and hemolytic disease of a newborn despite rhesus D prophylaxis: a case report

open access: yesJournal 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

Congenital hyperinsulinism in a newborn presenting with poor feeding

open access: yesSAGE Open Medical Case Reports, 2022
Hyperinsulinemic hypoglycemia is a condition linked to several genetic, metabolic, and growth disorders in which there is dysregulated insulin secretion.
Kiran Mazloom   +4 more
doaj   +1 more source

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