Results 1 to 10 of about 245,105 (180)
Congenital Hyperinsulinism: Current Laboratory-Based Approaches to the Genetic Diagnosis of a Heterogeneous Disease [PDF]
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 +10 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 +3 more sources
Transient congenital hyperinsulinism and hemolytic disease of a newborn despite rhesus D prophylaxis: a case report [PDF]
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 +2 more sources
Frontiers in Endocrinology, 2021 IntroductionDespite improvements in diagnosis and therapeutic advances in treatment, congenital hyperinsulinism (CHI) remains a severe disease with high patient impairment.
Kaja Kristensen +2 more
doaj +2 more sources
Syndromic forms of congenital hyperinsulinism
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 +3 more sources
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 +7 more
doaj +1 more source
European Journal of Pediatric Surgery Reports, 2022 Indocyanine green (ICG)-guided near-infrared fluorescence has been recently adopted in pediatric surgery, although its use in the treatment of congenital hyperinsulinism has not been reported.
Carlos Delgado-Miguel +7 more
doaj +1 more source
The etiology of cardiac hypertrophy in infants
Scientific 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 in a newborn presenting with poor feeding
SAGE 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
Congenital hyperinsulinism: clinical cases
Кубанский научный медицинский вестник, 2022 Background. Congenital hyperinsulinism (CHI) is a hereditary disorder presenting with the hypersecretion of insulin by pancreatic beta cells and further development of hypoglycaemia. CHI is an orphan disease.
I. Yu. Chernyak +4 more
doaj +1 more source