Results 1 to 10 of about 6,169 (207)
Medicina, 2014 Hyperinsulinism is the most common cause of hypoglycemia in infants. In many cases conservative treatment is not effective and surgical intervention is required.
Indrė Petraitienė +6 more
doaj +6 more sources
Real-world experience with the use of diazoxide among people living with congenital hyperinsulinism and their caregivers [PDF]
Frontiers in EndocrinologyIntroductionCongenital hyperinsulinism (HI) is a rare disease that causes severe hypoglycemia. Diazoxide is the first-line treatment; however, many individuals using diazoxide continue to experience hypoglycemia. Diazoxide is associated with side effects
Tai L. S. Pasquini +8 more
doaj +2 more sources
Congenital Hyperinsulinism India Association: An Approach to Address the Challenges and Opportunities of a Rare Disease [PDF]
Medical SciencesIndia’s population complexity presents varied challenges in genetic research, and while facilities have gained traction in tier-1 and -2 cities, reliance on international collaborations often delays such investigations.
Jaikumar B. Contractor +7 more
doaj +2 more sources
Expanding the phenotype of CARS1 variants to include congenital hyperinsulinism [PDF]
BMC Medical GenomicsBackground CARS1 loss of function compound heterozygous or homozygous variants have been reported in five individuals to cause a neurodevelopmental phenotype that includes microcephaly and brittle hair and nails.
Victoria R. Sanders +3 more
doaj +2 more sources
Developing a congenital hyperinsulinism prioritized research agenda: a patient-driven international collaborative research network [PDF]
Frontiers in EndocrinologyIntroductionCongenital 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 +17 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
Global Registries in Congenital Hyperinsulinism
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 +3 more
doaj +3 more sources
Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity [PDF]
Genome MedicineBackground We recently reported non-coding variants in a cis-regulatory element of the beta-cell disallowed gene hexokinase 1 (HK1) as a novel cause of congenital hyperinsulinism.
Jasmin J. Bennett +22 more
doaj +2 more sources
Tidsskrift 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 +3 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