Results 91 to 100 of about 510,633 (288)

Neurodevelopmental outcomes and neurophysiological parameters in children with congenital hyperinsulinism

open access: yesМедицинский совет, 2022
Introduction. Congenital hyperinsulinism is a rare group of genetic disorders resulting in persistent hypoglycemia which can lead to delay of neurodevelopment.Aim.
I. L. Nikitina   +9 more
doaj   +1 more source

Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management [PDF]

open access: yes, 2020
Hyperinsulinemic hypoglycemia (HH) is characterized by unregulated insulin release, leading to persistently low blood glucose concentrations with lack of alternative fuels, which increases the risk of neurological damage in these patients. It is the most
Flanagan, Sarah, Houghton, Jayne A. L.
core   +2 more sources

Dilated Convolutional Neural Networks for Cardiovascular MR Segmentation in Congenital Heart Disease [PDF]

open access: yesRAMBO 2016, HVSMR 2016. LNCS 10129. pp. 95-102, 2017
We propose an automatic method using dilated convolutional neural networks (CNNs) for segmentation of the myocardium and blood pool in cardiovascular MR (CMR) of patients with congenital heart disease (CHD). Ten training and ten test CMR scans cropped to an ROI around the heart were provided in the MICCAI 2016 HVSMR challenge.
arxiv   +1 more source

A Case Series: Congenital Hyperinsulinism [PDF]

open access: yesInternational Journal of Endocrinology and Metabolism, 2016
INTRODUCTION: Congenital hyperinsulinism is a rare inherited disease caused by mutations in genes responsible for β-cell’s function in glucose hemostasis leading to profound and recurrent hypoglycemia. The incidence of the disease is about 1 in 50000 newborns.
Susan Akbaroghli   +3 more
openaire   +2 more sources

Nouveautés radiologiques dans le dépistage et le diagnostic des erreurs innées du métabolisme [PDF]

open access: yes, 2005
Les maladies héréditaires du métabolisme ont acquis une place de plus en plus importante dans la pathologie pédiatrique. Leur nombre ne cesse d’augmenter au fur et à mesure de la progression des connaissances en biologie cellulaire et des progrès ...
Boddaert, Nathalie   +7 more
core   +1 more source

Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism

open access: yesNature Genetics, 2022
Gene expression is tightly regulated, with many genes exhibiting cell-specific silencing when their protein product would disrupt normal cellular function1.
M. Wakeling   +36 more
semanticscholar   +1 more source

A Computational Framework for Atrioventricular Valve Modeling using Open-Source Software [PDF]

open access: yesarXiv, 2022
Atrioventricular valve regurgitation is a significant cause of morbidity and mortality in patients with acquired and congenital cardiac valve disease. Image-derived computational modeling of atrioventricular valves has advanced substantially over the last decade and holds particular promise to inform valve repair in small and heterogeneous populations ...
arxiv  

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

Sex‐specific white matter alterations in children exposed to high pregestational BMI

open access: yesObesity, Volume 33, Issue 6, Page 1113-1125, June 2025.
Abstract Objective This study investigated whether exposure to high pregestational BMI (≥ 25 kg/m2) is associated with alterations in white matter microstructure in early childhood, explored sex‐specific effects, and examined associations with cognitive performance. Methods A total of 90 children from the Alberta Pregnancy Outcomes and Nutrition (APrON)
Samson Nivins   +5 more
wiley   +1 more source

Evaluation of cinematic volume rendering open-source and commercial solutions for the exploration of congenital heart data [PDF]

open access: yesarXiv, 2023
Detailed anatomical information is essential to optimize medical decisions for surgical and pre-operative planning in patients with congenital heart disease. The visualization techniques commonly used in clinical routine for the exploration of complex cardiac data are based on multi-planar reformations, maximum intensity projection, and volume ...
arxiv  

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