97 Result(s)
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Article
A child presenting with disordered consciousness, hallucinations, screaming episodes and abdominal pain
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Article
Correspondence
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Article
Interactions of diazoxide with frusemide, spironolactone, and acetylsalicylic acid in a patient with hyperinsulinism of Infancy and Fallot tetralogy
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Ketotic hypoglycaemia in children with diazoxide responsive hyperinsulinism of infancy
Hyperinsulinism of infancy (HI) is a cause of persistent and recurrent hypoglycaemia in infancy and childhood, which if untreated can cause significant brain damage and mental retardation. The biochemical hall...
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Chapter
Hyperinsulinism of Infancy
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From hyperinsulinaemic hypoglycaemia to ketotic hypoglycaemia: the range of glucose abnormalities in patients born with intrauterine growth retardation
Newborns with intrauterine growth retardation (IUGR) have multiple risk factors for develo** hypoglycaemia. Hyperinsulinism, both transient and prolonged, is one of the major risk factors responsible for th...
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Advances in the diagnosis and management of hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia is a consequence of inappropriate and unregulated secretion of insulin by pancreatic β-cells. This Review provides an overview of the known genetic and nonhereditary causes and va...
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Erratum: Advances in the diagnosis and management of hyperinsulinemic hypoglycemia
Nature Clinical Practice Endocrinology & Metabolism (2009) 5: 101–112 [doi:10.1038/ncpendmet1046]
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Article
Congenital Hyperinsulinism due to mutations in HNF4A and HADH
Mutations in the HADH and HNF4A genes are rare causes of diazoxide responsive congenital hyperinsulinism (CHI). This chapter details the phenotype known to be associated with mutations in these genes. Additionall...
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Pancreatic β-cell KATP channels: Hypoglycaemia and hyperglycaemia
The pancreatic β-cell ATP-sensitive K+ channel (KATP channel) plays a critical role in glucose homeostasis by linking glucose metabolism to electrical excitability and insulin secretion. Changes in the intracellu...
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Mutations in pancreatic ß-cell Glucokinase as a cause of hyperinsulinaemic hypoglycaemia and neonatal diabetes mellitus
Glucokinase is a key enzyme involved in regulating insulin secretion from the pancreatic ß-cell. The unique role of glucokinase in human glucose physiology is illustrated by the fact that genetic mutations in ...
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Article
Role of 18F-DOPA PET/CT imaging in congenital hyperinsulinism
Congenital hyperinsulinism is a leading cause of severe hypoglycaemia in the newborn period. There are two (diffuse and focal) histological subtypes of congenital hyperinsulinism. The diffuse form affects the ...
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Congenital hyperinsulinism and neonatal diabetes mellitus
This special edition of the Reviews in Metabolic and Endocrine Disorders provides a state of the state update on congenital hyperinsulinism and neonatal diabetes mellitus. Understanding the molecular mechanism...
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Focal congenital hyperinsulinism in a patient with septo-optic dysplasia
This Case Study describes an infant diagnosed as having focal congenital hyperinsulinism associated with septo-optic dysplasia, highlighting the importance of maintaining a high degree of suspicion in all infa...
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Reference Work Entry In depth
Introduction to Endocrine Disorders
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Reference Work Entry In depth
Thyroid Disorders
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Article
Open AccessCoronary magnetic resonance angiography: in vivo comparison of image quality at 1.5 Tesla versus 3.0 Tesla with Parallel Radiofrequency Transmission
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Open AccessLeucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase
Loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase (HADH) cause protein sensitive hyperinsulinaemic hypoglycaemia (HH). HADH encodes short chain 3-hydroxacyl-CoA dehydrogenase, an enzyme that catalyses...
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Article
Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management
Hyperinsulinaemic hypoglycaemia (HH) is due to the unregulated secretion of insulin from pancreatic β-cells. A rapid diagnosis and appropriate management of these patients is essential to prevent the potential...
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Article
A ten-year experience of thyroglossal duct cyst surgery in children
We discuss a 10-year experience of all the thyroglossal duct cysts (TGDC) removed at our institution, assessing whether management was appropriate and to compare our outcomes and success rate with current lite...
