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A Newborn with Congenital Hyperinsulinism
Fetal and Pediatric Pathology, 2019Objective: Our aim was to describe the molecular alterations in the ABCC8 gene in a child with congenital hyperinsulinism (CHI). Methods: Genetic analysis of the ABCC8 gene of a newborn infant with congenial hyperinsulinism was obtained. Results: There were two mutations in the ABCC8 gene, c.4412delT, and c.3979G > A, indicating a compound heterozygous
Rong Ju, Peng Gou, Yufeng Xi, Yiting Du
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Genetics of Congenital Hyperinsulinism
Endocrine Pathology, 2004Congenital hyperinsulinism (CHI) is a clinically and genetically heterogeneous entity and causes severe hypoglycemia in neonates and infants. The clinical heterogeneity is manifested by severity ranging from extremely severe, life-threatening disease to very mild clinical symptoms, which may even be difficult to identify.
Claudine Junien, Jean-Christophe Fournet
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Congenital Hyperinsulinism: An Historical Perspective
Hormone Research in Paediatrics, 2022Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in neonates, infants, and children. Since the first case descriptions in the 1950s, the field has advanced significantly. It was the development of the insulin radioimmunoassay by Yalow and Berson a decade later that made it possible to demonstrate that this form of ...
Paul S. Thornton +2 more
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Current Opinion in Pediatrics, 2013
Congenital hyperinsulinism (CHI) is a multifaceted disease and continues to be the most common cause of persistent hypoglycemia in infants. The purpose of the review is to highlight important recent developments regarding CHI.Several recent studies have highlighted the advances in medical genetics, imaging techniques, histological variety, and surgical
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Congenital hyperinsulinism (CHI) is a multifaceted disease and continues to be the most common cause of persistent hypoglycemia in infants. The purpose of the review is to highlight important recent developments regarding CHI.Several recent studies have highlighted the advances in medical genetics, imaging techniques, histological variety, and surgical
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Investigation and management of congenital hyperinsulinism [PDF]
British Journal of Nursing, 2009 Insulin is a powerful hormone produced by the beta-cells in the pancreas. Its major function is to regulate blood glucose levels, facilitating the transport of glucose into the body’s cells. Congenital hyperinsulinism is characterized by the presence of insulin that is inappropriately high for the concentration of blood glucose. Because high levels of
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Seminars in Fetal and Neonatal Medicine, 2005
Congenital hyperinsulinism is a cause of persistent hypoglycaemia in the neonatal period. It is a heterogeneous disease with respect to clinical presentation, molecular biology, genetic aetiology and response to medical therapy. The clinical heterogeneity may range from severe life-threatening disease to very mild clinical symptoms.
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Congenital hyperinsulinism is a cause of persistent hypoglycaemia in the neonatal period. It is a heterogeneous disease with respect to clinical presentation, molecular biology, genetic aetiology and response to medical therapy. The clinical heterogeneity may range from severe life-threatening disease to very mild clinical symptoms.
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A syndrome of congenital hyperinsulinism and hyperammonemia
The Journal of Pediatrics, 1997This report describes two patients from unrelated families with an unusual syndrome of hyperinsulinism plus hyperammonemia. The diagnosis of hyperinsulinism was based on the demonstration of fasting hypoglycemia with inappropriately elevated insulin levels, inappropriately low beta-hydroxybutyrate and free fatty acid levels, and inappropriately large ...
Stuart A. Weinzimer +5 more
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Rare forms of congenital hyperinsulinism
Seminars in Pediatric Surgery, 2011Rare forms of congenital hyperinsulinism (CHI) are caused by mutations in GLUD1 (encoding glutamate dehydrogenase), GCK (encoding glucokinase), HADH (encoding for L-3-hydroxyacyl-CoA dehydrogenase), SLC16A1 (encoding the monocarboxylat transporter 1), HNF4A (encoding hepatocyte nuclear factor 4α) or UCP2 (encoding mitochondrial uncoupling protein 2 ...
Jan Marquard +4 more
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A Case Report on Congenital Hyperinsulinism
Journal of Neonatology, 2020Introduction: Congenital hyperinsulinism (CH) is the most common reason for persistent hypoglycemia in neonates. Insulin levels increased inappropriately in the presence of hypoglycemia. Initial management is nonsurgical, but if it fails then partial pancreatectomy is done, which is a surgical procedure.
Kunj Jobanputra +2 more
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Surgical treatment of congenital hyperinsulinism
Seminars in Pediatric Surgery, 2020A multidisciplinary approach to patients with congenital hyperinsulinism (HI) can distinguish focal from diffuse HI, localize focal lesions, and permit partial pancreatectomy with cure in almost all focal patients. Surgery does not cure diffuse disease but can help prevent severe hypoglycemia and brain damage. Surgery can be curative for insulinoma and
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