Results 61 to 70 of about 10,576 (237)

The impact of subtotal pancreatectomy on people with congenital hyperinsulinism and their caregivers

open access: yesFrontiers in Endocrinology
IntroductionCongenital 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   +1 more source

The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism

open access: yesFrontiers in Endocrinology, 2019
Congenital hyperinsulinism (CHI) is a heterogenous and complex disorder in which the unregulated insulin secretion from pancreatic beta-cells leads to hyperinsulinaemic hypoglycaemia.
S. Galcheva   +3 more
semanticscholar   +1 more source

Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism

open access: yesClinical Case Reports, 2020
Advances in genomics and 18F‐DOPA PET‐CT imaging have transformed the management of infants with Congenital Hyperinsulinism. Preoperative diagnosis of focal hyperinsulinism permits limited pancreatectomy with improved clinical outcomes while knowledge of
Caroline M. Joyce   +4 more
doaj   +1 more source

Laparoscopic Surgery for Focal-Form Congenital Hyperinsulinism Located in Pancreatic Head

open access: yesFrontiers in Pediatrics, 2022
Background and AimsCongenital hyperinsulinism of infancy (CHI) is a rare condition that may cause irreversible severe neurological damage in infants. For children in whom medical management fails, partial or near-total pancreatectomy is then required ...
Zhe Wen   +6 more
doaj   +1 more source

Case Report: The importance of genetic counseling for families with hyperinsulinism

open access: yesFrontiers in Pediatrics
Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in infancy. Genotype-phenotype correlations directly inform medical care for patients.
Victoria R. Sanders   +18 more
doaj   +1 more source

Continuous Glucose Monitoring Systems: Are they useful for evaluating glycemic control in children with hyperinsulinism?

open access: yesHormone Research in Paediatrics, 2020
Background: Effective treatment and close monitoring in children with congenital hyperinsulinism (HI) are important to prevent hypoglycemic-associated brain damage.
Arpana Rayannavar   +3 more
semanticscholar   +1 more source

Arterial Calcium Stimulation with Hepatic Venous Sampling in the Localization Diagnosis of Endogenous Hyperinsulinism

open access: yesInternational Journal of Endocrinology, 2016
Objective. The aim of this study was to assess the utility of arterial calcium stimulation with hepatic venous sampling (ASVS) in the localization diagnosis of endogenous hyperinsulinism. Patients and Methods.
Paloma Moreno-Moreno   +6 more
doaj   +1 more source

Improving Medication Safety Following Neonatal Discharge: A Feasibility Study of a Parent Medication Education Intervention in Ireland

open access: yesActa Paediatrica, EarlyView.
ABSTRACT Aim Neonates discharged home on medications remain at risk of medication errors. The PADDINGToN programme previously developed parent co‐designed resources to support safer medication administration following discharge. The aim of this study, PADDINGToN‐2, is to evaluate the feasibility of recruiting and retaining parents in a study assessing ...
S. Giva   +9 more
wiley   +1 more source

Association between vitamin D status and hyperinsulinism

open access: yes, 2018
Some studies have suggested that vitamin D deficiency is associated with an increased risk of first trimester miscarriages, others have suggested that it is associated with an increased risk of hyperinsulinism/insulin resistance and the development of ...
Leemaqz, S.   +9 more
core   +1 more source

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

open access: yesClinical Genetics, EarlyView.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw   +30 more
wiley   +1 more source

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