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]
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]
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]
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]
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
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]
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
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
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]
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