Results 31 to 40 of about 6,576 (240)
The etiology of cardiac hypertrophy in infants
Scientific Reports, 2021 This study aimed to describe the variety of etiologies currently identified in infants with cardiac hypertrophy (CH) and investigate whether there is a relation with hyperinsulinism, echocardiographic characteristics and prognosis.
Raymond Stegeman +5 more
doaj +1 more source
Congenital hyperinsulinism: clinical cases
Кубанский научный медицинский вестник, 2022 Background. Congenital hyperinsulinism (CHI) is a hereditary disorder presenting with the hypersecretion of insulin by pancreatic beta cells and further development of hypoglycaemia. CHI is an orphan disease.
I. Yu. Chernyak +4 more
doaj +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
A Case Series: Congenital Hyperinsulinism [PDF]
International Journal of Endocrinology and Metabolism, 2016 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. Mutations in at least 8 genes have been reported to cause congenital hyperinsulinism.
Susan Akbaroghli +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
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
Brain injury due to persistent hyperinsulinemic hypoglycemia of infancy [PDF]
, 2007 A
De Visschere, Pieter +3 more
core +2 more sources
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
Familial Focal Congenital Hyperinsulinism [PDF]
The Journal of Clinical Endocrinology & Metabolism, 2011 Background:Congenital hyperinsulinism (CHI) is a cause of persistent hypoglycemia. Histologically, there are two subgroups, diffuse and focal. Focal CHI is a consequence of two independent events, inheritance of a paternal mutation in ABCC8/KCNJ11 and paternal uniparental isodisomy of chromosome 11p15 within the embryonic pancreas, leading to an ...
Sian Ellard +12 more
openaire +2 more sources