17 Result(s)
within
English
Medicine & Public Health
Endocrinology
Khalid Hussain
Article
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Article
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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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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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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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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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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Open AccessSirolimus therapy following subtotal pancreatectomy in neonatal hyperinsulinemic hypoglycaemia: a case report
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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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Open AccessClinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
Beckwith–Wiedemann syndrome is an overgrowth disorder characterized by variable clinical phenotypes and a complex molecular aetiology. This Consensus Statement summarizes recommendations for clinical indicatio...
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Open AccessOptimizing a Hybrid Closed Loop System in Type 1 Diabetes: A Case Report
We present the optimization of a hybrid closed-loop (HCL) insulin pump system in a type 1 diabetes (T1D) patient in the first 3 months of using the Minimed 670G. An 11-year-old female with 7 years of T1D histo...
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Open AccessContinuous Subcutaneous Insulin Infusion Characteristics in Type 1 Diabetes Children and Adolescents in Qatar
To describe continuous subcutaneous insulin infusion (CSII) characteristics in type 1 diabetes mellitus (T1DM) children and adolescents using a standardized protocol in routine clinical settings in Qatar.
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Open AccessGlycemic outcomes of Advanced Hybrid Closed Loop system in children and adolescents with Type 1 Diabetes, previously treated with Multiple Daily Injections (MiniMed 780G system in T1D individuals, previously treated with MDI)
The objective of this study was to evaluate the glycemic outcomes in children and adolescents with Type 1 Diabetes (T1D) previously treated with Multiple Daily Injections (MDI) using a structured initiation pr...
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The epidemiology, clinical, biochemical, immunological and radiological features of youth onset type 2 diabetes mellitus in the state of Qatar
To describe the epidemiology, clinical, biochemical, immunological and radiological aspects of youth with type 2 diabetes.
