A5021756696- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Pancreatic function and diabetes
- Metabolism, Diabetes, and Cancer
- Epigenetics and DNA Methylation
- Cancer, Hypoxia, and Metabolism
- Neuroblastoma Research and Treatments
- Genetic Syndromes and Imprinting
- Diabetes Management and Research
- Cancer-related gene regulation
- Metabolism and Genetic Disorders
- Neonatal Health and Biochemistry
- Pituitary Gland Disorders and Treatments
- Genomics and Rare Diseases
- Acute Lymphoblastic Leukemia research
- Diabetes Management and Education
- Medical Imaging Techniques and Applications
- Childhood Cancer Survivors' Quality of Life
- Congenital heart defects research
- Glioma Diagnosis and Treatment
- Neonatal Respiratory Health Research
- Diet and metabolism studies
- Cardiac Ischemia and Reperfusion
- Glycogen Storage Diseases and Myoclonus
- Congenital Diaphragmatic Hernia Studies
- Diabetes and associated disorders
Royal Alexandra Children's Hospital
2019-2020
Great Ormond Street Hospital for Children NHS Foundation Trust
2014
Great Ormond Street Hospital
2010-2011
University College London
2009-2011
National Health Service
2010-2011
Royal Children's Hospital
2005-2006
Murdoch Children's Research Institute
2005
Congenital hyperinsulinism (CHI) is biochemically characterised by the dysregulated secretion of insulin from pancreatic β-cells. It a major cause persistent hyperinsulinaemic hypoglycaemia (HH) in newborn and infancy period. Genetically CHI heterogeneous condition with mutations seven different genes described. The genetic basis involves defects key which regulate Recessive inactivating <i>ABCC8</i> <i>KCNJ11</i> (which encode two subunits adenosine triphosphate sensitive potassium channels...
Article Dexamphetamine Use for Management of Obesity and Hypersomnolence Following Hypothalamic Injury was published on February 1, 2006 in the journal Journal Pediatric Endocrinology Metabolism (volume 19, issue 2).
Background: Congenital hyperinsulinism (CHI) is a cause of persistent hypoglycemia. Histologically, there are two subgroups, diffuse and focal. Focal CHI consequence independent events, inheritance paternal mutation in ABCC8/KCNJ11 uniparental isodisomy chromosome 11p15 within the embryonic pancreas, leading to an imbalance expression imprinted genes. The probability both events occurring siblings rare. Aim: We describe first familial form focal siblings. Patients Methods: proband presented...
Congenital hyperinsulinism (CHI) is a cause of persistent hypoglycemia due to unregulated insulin secretion from pancreatic β-cells. Histologically, there are two major subgroups, focal and diffuse. Focal CHI typically unresponsive diazoxide can be cured with surgical removal the lesion.We report on three patients illustrate marked clinical, genetic, radiological, histological heterogeneity.The first had paternal (c.3992-9G→A) ABCC8 mutation. One these was fully responsive small dose (5...
Abstract Beckwith-Wiedemann syndrome (BWS) is an overgrowth caused by multiple epigenetic and genetic changes affecting imprinted genes on chromosome 11p15.5. Hypomethylation of KvDMR1 the maternal allele most common cause, hyperinsulinaemic hypoglycaemia (HH) biochemical abnormality. We evaluated correlation between severity HH degree hypomethylation in BWS. Out 19 patients with BWS due to hypomethylation, 10 had no HH, 5 mild transient that resolved spontaneously, 4 required diazoxide...
To review the clinical outcome and report our experience of patients with persistent hyperinsulinemic hypoglycaemia infancy (PHHI).Retrospective case series 14 diagnosed PHHI at Royal Children's Hospital in Melbourne period between 1988 2004. Diagnoses insulinoma, Beckwith syndrome transient hyperinsulinism were excluded.Six (43%) presented on day 1, a median presenting age 2.75 months; ten (71.4%) seizures. All initially treated diazoxide, whom six recovered are off medication, while four...
Background: Ketotic hypoglycaemia is a common form of in childhood. Biochemically, patients present with fasting but normal hormonal and metabolite profiles (low serum alanine levels some patients). Glycogen Storage Disease Type 0 (GSD0) an autosomal recessive disease due to mutations the GYS2 gene. Patients GSD0 also ketotic hypoglycaemia. The frequency presenting not known.
<ns4:p><ns4:bold>Background: </ns4:bold>Large contiguous gene deletions at the distal end of short arm chromosome 9 result in complex multi-organ condition 9p deletion syndrome. A range clinical features can from these with most common being facial dysmorphisms and neurological impairment. Congenital hyperinsulinism is a rarely reported feature syndrome genetic mechanism for dysregulated insulin secretion unknown. </ns4:p><ns4:p> <ns4:bold>Methods: </ns4:bold>We studied characteristics 12...
<ns4:p><ns4:bold>Background: </ns4:bold>Large contiguous gene deletions at the distal end of short arm chromosome 9 result in complex multi-organ condition 9p deletion syndrome. A range clinical features can from these with most common being facial dysmorphisms and neurological impairment. Congenital hyperinsulinism is a rarely reported feature syndrome genetic mechanism for dysregulated insulin secretion unknown. </ns4:p><ns4:p> <ns4:bold>Methods: </ns4:bold>We studied characteristics 12...
Patient satisfaction is regarded as an integral component of the quality medical care. Therefore, part ongoing process outcome assessment, we analysed levels care among patients and parents in our diabetes clinic its relationship to short-term metabolic control outcome, knowledge health-related life (HRQOL).In 2004, their children aged 5-18 years attending Royal Children's Hospital (RCH) completed questionnaires reporting with provided, HRQOL knowledge. Concurrent HbA(1c) were also recorded....
Galactokinase catalyses the first committed step in galactose metabolism, conversion of to galactose-1-phosphate. deficiency is an extremely rare form galactosaemia, and most frequent complication reported cataracts. Congenital hyperinsulinism (CHI) a cause severe hypoglycaemia newborn period. Galactosaemia has not previously been neonate with concomitant CHI.To report case patient CHI galactokinase deficiency, describe diagnostic pitfalls bedside blood glucose testing combined CHI.A...
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | 1479-6848 (online)