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 +7 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 +3 more sources
The impact of subtotal pancreatectomy on people with congenital hyperinsulinism and their caregivers [PDF]
Frontiers in EndocrinologyIntroductionCongenital hyperinsulinism (HI) is a rare disorder characterized by severe, recurrent hypoglycemia. Subtotal pancreatectomy remains a treatment option for diffuse HI, but post-surgery quality of life is largely undescribed.MethodsThis mixed ...
Kristen E. Rohli +8 more
doaj +2 more sources
Real-world insights into neurodevelopmental outcomes amongst people with congenital hyperinsulinism [PDF]
Orphanet Journal of Rare DiseasesBackground Congenital hyperinsulinism (HI) is a rare condition causing excessive insulin secretion, leading to severe hypoglycemia and high risk of neurological damage. Studies of neurodevelopmental outcomes in HI report prevalence ranging from less than
Lauren N. Lopez +8 more
doaj +2 more sources
Polish Journal of Pathology, 2017 Congenital and adult-onset hyperinsulinism (CHI) must be taken under consideration in the differential diagnosis of hypoglycaemia symptoms with endogenous hyperinsulinism, especially in cases in which there was failure to find an insulinoma. Histological
Adam M. Kowalewski +3 more
doaj +2 more sources
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
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
, 2019 This unique book is a practical guide for the clinician faced with the challenge of diagnosing and managing neonates, infants and children with congenital hyperinsulinism (HI), within the framework of pathophysiology and molecular genetics.
Indraneel Banerjee +3 more
core +3 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
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