24 Result(s)
within
Khalid Hussain
English
Pediatrics
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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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Article
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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Article
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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Reference Work Entry In depth
Introduction to Endocrine Disorders
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Chapter
Galactokinase Deficiency in a Patient with Congenital Hyperinsulinism
Background: Galactokinase catalyses the first committed step in galactose metabolism, the conversion of galactose to galactose-1-phosphate. Galactokinase deficiency is an extremely rare form of gal...
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Reference Work Entry In depth
Thyroid Disorders
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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
Biochemical studies in patients with hyperinsulinaemic hypoglycaemia
Hyperinsulinaemic hypoglycaemia (HH) is characterised by the dysregulated secretion of insulin from the pancreatic β-cell. It is a major cause of severe and persistent hypoglycaemia in the newborn period. Ther...
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Article
Neonatal Hypoglycemia
Glucose is essential for cerebral metabolism. Unsurprisingly therefore, hypoglycemia may result in encephalopathy. Knowledge of the homeostatic mechanisms that maintain blood glucose concentrations within a ti...
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Chapter
Hyperinsulinism
Hyperinsulinism of infancy (HI) is the most common cause of recurrent and severe hypoglycaemia in the neonatal and infancy periods. The biochemical basis of this disorder is characterised by the excessive and ...
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Article
Open AccessCongenital hyperinsulinism: clinical and molecular characterisation of compound heterozygous ABCC8 mutation responsive to Diazoxide therapy
Mutations in ABCC8 and KCNJ11 are the most common cause of congenital hyperinsulinism (CHI). Recessive as well as dominant acting ABCC8/KCNJ11 mutations have been described. Diazoxide, which is the first line med...
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Article
Open AccessA novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia
Thiamine-responsive megaloblastic anaemia (TRMA) is a rare syndrome where patients present with early onset diabetes mellitus, megaloblastic anaemia and sensorineural deafness. This report describes a new case...
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Article
Open AccessSirolimus therapy following subtotal pancreatectomy in neonatal hyperinsulinemic hypoglycaemia: a case report
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Article
Hyperinsulinemic hypoglycemia in infancy: Current concepts in diagnosis and management
Molecular basis of various forms of hyperinsulinemic hypoglycemia, involving defects in key genes regulating insulin secretion, are being increasingly reported. However, the management of medically unresponsiv...
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Article
Open AccessProceedings of the 23rd Paediatric Rheumatology European Society Congress: part two
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Article
Open AccessDiagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology
Glucose homeostasis requires appropriate and synchronous coordination of metabolic events and hormonal activities to keep plasma glucose concentrations in a narrow range of 3.5–5.5 mmol/L. Insulin, the only gl...
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Chapter
Medical Management of Hyperinsulinism
Congenital hyperinsulinism (HI) comprises conditions of various initial severities, which might improve with time. Short-term management, to normalize glycemia and avoid brain damage, frequently includes the u...
