Results 111 to 120 of about 510,633 (288)
Congenital hyperinsulinism caused by a de novo mutation in the ABCC8 gene: a case report [PDF]
, 2018 K
Balogh, István +5 more
core
A Primer on Computational Simulation in Congenital Heart Disease for the Clinician [PDF]
Progress in Pediatric Cardiology 30, 1-2 (2010) 3-13, 2010 Interest in the application of engineering methods to problems in congenital heart disease has gained increased popularity over the past decade. The use of computational simulation to examine common clinical problems including single ventricle physiology and the associated surgical approaches, the effects of pacemaker implantation on vascular occlusion,
arxiv +1 more source
Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, different phenotypes [PDF]
, 2018 Congenital hyperinsulinism (CHI) is a heterogenous disease caused by insulin secretion regulatory defects, being ABCC8/KCNJ11 the most commonly affected genes.
Barreiro Conde, Jesús +8 more
core +1 more source
Insulin Autoimmune Syndrome: A Chinese Expert Consensus Statement
AGING MEDICINE, Volume 8, Issue 1, February 2025.ABSTRACT Insulin autoimmune syndrome (IAS) is a rare autoimmune disorder characterized by spontaneous hypoglycemia. The incidence of IAS is higher in East Asian populations compared to other populations. Delayed diagnosis and treatment can lead to recurrent hypoglycemia, significant glucose fluctuations, and adverse clinical outcomes, including life ...
Huabing Zhang, Ming Xia Yuan, Qi Pan
wiley +1 more source
A novel mutation of gene in a patient with diazoxide-unresponsive congenital hyperinsulinism [PDF]
Korean Journal of Pediatrics, 2016 Congenital hyperinsulinism (CHI) is a rare condition that can cause irreversible brain damage during the neonatal period owing to the associated hypoglycemia. Hypoglycemia in CHI occurs secondary to the dysregulation of insulin secretion.
Ji Sook Park +2 more
doaj +1 more source
Медицинский совет, 2021 Introduction. Hyperinsulinemic hypoglycemia in children is most commonly due to congenital hyperinsulinism. When hyperinsu-linemia is accompanied by fasting hypoglycemia and postprandial hyperglycemia, rare syndromes of severe insulin resistance, which ...
I. L. Nikitina +8 more
doaj +1 more source
MAGEL2 (patho‐)physiology and Schaaf–Yang syndrome
Developmental Medicine &Child Neurology, Volume 67, Issue 1, Page 35-48, January 2025.Pathogenic variants in MAGEL2 cause Schaaf–Yang syndrome (SYS). MAGEL2 has diverse physiological functions, particularly in the human hypothalamus. Loss of function likely explains several SYS phenotypes. In addition it has become evident that neomorphic effects of truncated MAGEL2 proteins likely contribute to the severity of this complex ...
Tim Schubert, Christian P. Schaaf
wiley +1 more source
BMJ Open Diabetes Research & Care, 2022 Introduction Hypoglycemia is often recurrent and severe in patients with congenital hyperinsulinism (CHI). However, there is little information regarding frequency or patterns of episodes to inform clinical management and future trial design.
C. Worth +7 more
semanticscholar +1 more source
Learning normal appearance for fetal anomaly screening: Application to the unsupervised detection of Hypoplastic Left Heart Syndrome [PDF]
arXiv, 2020 Congenital heart disease is considered as one the most common groups of congenital malformations which affects $6-11$ per $1000$ newborns. In this work, an automated framework for detection of cardiac anomalies during ultrasound screening is proposed and evaluated on the example of Hypoplastic Left Heart Syndrome (HLHS), a sub-category of congenital ...
arxiv
Expression and function of ATP-dependent potassium channels in zebrafish islet β-cells [PDF]
, 2017 ATP-sensitive potassium channels (K(ATP) channels) are critical nutrient sensors in many mammalian tissues. In the pancreas, K(ATP) channels are essential for coupling glucose metabolism to insulin secretion.
Conway, Hannah +8 more
core +2 more sources