Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations [PDF]
, 2009 Background: Activating mutations in the GLUD1 gene (which encodes for the intra-mitochondrial enzyme glutamate dehydrogenase, GDH) cause the hyperinsulinism–hyperammonaemia (HI/HA) syndrome.
Banerjee, I. +9 more
core +2 more sources
Long-Term Outcome and Treatment in Persistent and Transient Congenital Hyperinsulinism : A Finnish Population-Based Study [PDF]
, 2021 Context: The management of congenital hyperinsulinism (CHI) has improved. Objective: To examine the treatment and long-term outcome of Finnish patients with persistent and transient CHI (P-CHI and T-CHI). Design: A population-based retrospective study of
Huopio, Hanna +3 more
core +1 more source
Pediatric Annals, 2017 Congenital hyperinsulinism is a rare disorder that commonly presents in the immediate postnatal period as persistent hypoglycemia. The condition is frequently resistant to medical therapies, and the genetic mutations implicated in the disorder can be predictive of response to therapy.
Elena, Minakova, Alison, Chu
openaire +3 more sources
A new familial form of a late-onset, persistent hyperinsulinemic hypoglycemia of infancy caused by a novel mutation in KCNJ11. [PDF]
, 2017 The ATP-sensitive potassium channel (KATP) functions as a metabo-electric transducer in regulating insulin secretion from pancreatic β-cells. The pancreatic KATP channel is composed of a pore-forming inwardly-rectifying potassium channel, Kir6.2, and a ...
Ferrara, Christine +5 more
core +1 more source
Binary segmentation of medical images using implicit spline representations and deep learning [PDF]
Computer Aided Geometric Design, Volume 85, 2021, 2021 We propose a novel approach to image segmentation based on combining implicit spline representations with deep convolutional neural networks. This is done by predicting the control points of a bivariate spline function whose zero-set represents the segmentation boundary.
arxiv +1 more source
The genetic basis of congenital hyperinsulinism [PDF]
Journal of Medical Genetics, 2009 Congenital hyperinsulinism (CHI) is biochemically characterised by the dysregulated secretion of insulin from pancreatic beta-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.
Ritika k kapoor +3 more
openaire +3 more sources
A Multicenter Experience with Long-Acting Somatostatin Analogues in Patients with Congenital Hyperinsulinism [PDF]
, 2017 Background/Aims: Congenital hyperinsulinism (CHI) is a rare disease characterized by recurrent severe hypoglycemia. In the diffuse form of CHI, pharmacotherapy is the preferred choice of treatment.
Banerjee, Indraneel +10 more
core +3 more sources
Familial Hyperinsulinism due to HNF4A Deficiency and Benign Premature Adrenarche: A Case Report
International Journal of Medical Students, 2021 Background: Familial Hyperinsulinism due to HNF4A deficiency (FHI-HNF4A) is a form of diazoxide-sensitive, diffuse hyperinsulinism, characterized by transient or persistent hyperinsulinemic hypoglycemia, and a propensity to develop Maturity-Onset ...
Edward Compton +2 more
doaj +1 more source
Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations [PDF]
, 2010 Objective: The phenotype associated with heterozygous HNF4A gene mutations has recently been extended to include diazoxide responsive neonatal hypoglycemia in addition to maturity-onset diabetes of the young (MODY).
Ashcroft +19 more
core +2 more sources
Orphanet Journal of Rare Diseases, 2021 Congenital hyperinsulinism (CHI), a major cause of persistent and recurrent hypoglycemia in infancy and childhood. Numerous pathogenic genes have been associated with 14 known genetic subtypes of CHI.
Wei Zhang, Yan-Mei Sang
doaj +1 more source