Results 11 to 20 of about 10,623 (193)
Endocrines, 2022 Congenital or monogenic hyperinsulinism (HI) is a group of rare genetic disorders characterized by dysregulated insulin secretion and is the most common cause of persistent hypoglycemia in children.
Ethel Gonzales Clemente +3 more
doaj +3 more sources
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
exaly +4 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
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
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
Patient-derived induced pluripotent stem cells for precision modelling of monogenic beta cell disorders [PDF]
Frontiers in EndocrinologyOver the past several years, research and technologies involving patient-derived induced pluripotent stem cells (iPSCs) have rapidly advanced, enabling the study of various disease pathologies, including rare pathologies like monogenic disorders of beta ...
Lily Deng, Mansa Krishnamurthy
doaj +2 more sources
Recurrent Hypoglycemia in Two Late‐Preterm Infants With Transitional Disorder of Glucose Mobilization—Case Series [PDF]
Clinical Case ReportsGreat emphasis is placed upon addressing hyperinsulinism in at‐risk infants with recurrent hypoglycemia. We report two preterm infants with recurrent nonhyperinsulinemic hypoglycemia due to transient impairment of glucose mobilization, warranting ...
Suresh Chandran +3 more
doaj +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
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
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