Results 61 to 70 of about 245,105 (180)

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

open access: yesActa Paediatrica, Volume 115, Issue 10, Page 2191-2199, October 2026.
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

Efficacy of Oral Dextrose Gel for Neonatal Hypoglycaemia: An Updated Systematic Review and Meta‐Analysis of Randomized Controlled Trials With 4368 Patients

open access: yesEndocrinology, Diabetes &Metabolism, Volume 9, Issue 5, September 2026.
The efficacy of oral dextrose gel for neonatal hypoglycaemia. ABSTRACT Background Neonatal hypoglycaemia is a common metabolic disorder affecting up to 15% of healthy neonates and a higher proportion of at‐risk infants. Oral 40% dextrose gel has emerged as a promising, low‐cost intervention, but recent evidence remains inconsistent.
Rowa Tareq Al‐Enezi   +12 more
wiley   +1 more source

Juvenile hyperinsulinism in a Maine Coon kitten

open access: yesJournal of Feline Medicine and Surgery Open Reports, 2022
Case summary A 5.5 month-old intact male Maine Coon cat was presented to a referral hospital for a history of muscle fasciculations, lethargy and seizures associated with refractory hypoglycemia.
Matthew Kornya   +3 more
doaj   +1 more source

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

open access: yesClinical Genetics, Volume 110, Issue 2, Page 150-164, August 2026.
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

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1452-1457, June 2026.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly   +3 more
wiley   +1 more source

Extreme caution on the use of sirolimus for the congenital hyperinsulinism in infancy patient

open access: yesOrphanet Journal of Rare Diseases, 2017
We have recently published on the limited effectiveness of sirolimus as a treatment option for hypoglycaemia as a consequence of hyperinsulinism. Our data oppose the view that mTOR inhibitors provide new opportunities for the treatment of patients with ...
Indraneel Banerjee   +2 more
doaj   +1 more source

Congenital hyperinsulinism: current status and future perspectives [PDF]

open access: yesAnnals of Pediatric Endocrinology & Metabolism, 2014
The diagnosis and treatment of congenital hyperinsulinism (CHI) have made a remarkable progress over the past 20 years and, currently, it is relatively rare to see patients who are left with severe psychomotor delay.
Tohru Yorifuji
doaj   +1 more source

The genetic basis of congenital hyperinsulinism [PDF]

open access: yesJournal of Medical Genetics, 2009
Congenital hyperinsulinism (CHI) is biochemically characterised by the dysregulated secretion of insulin from pancreatic β-cells. It is a major cause of persistent hyperinsulinaemic hypoglycaemia (HH) in the newborn and infancy period. Genetically CHI is a heterogeneous condition with mutations in seven different genes described.
James, Chela   +3 more
openaire   +2 more sources

Severe transient neonatal hyperinsulinism: First Peruvian case series

open access: yesSAGE Open Medical Case Reports
Congenital hyperinsulinism is characterized by dysregulated insulin secretion and is the most common and severe cause of persistent hypoglycemia in pediatrics. Brain damage rates can be as high as 50% due to inadequate treatment.
Manuel André Virú-Loza   +2 more
doaj   +1 more source

Cardiovascular Health in Women—Across the Lifespan

open access: yesClinical Endocrinology, Volume 104, Issue 6, Page 539-555, June 2026.
ABSTRACT Cardiovascular disease (CVD) remains the leading cause of mortality and morbidity among women worldwide. However, CVD continues to be perceived as a predominantly male issue. CVD in women therefore remains understudied, underrecognized and undertreated.
Jaya Chandrasekhar   +5 more
wiley   +1 more source

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