Michael Cardamone

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OBJECTIVES To evaluate the efficacy and side effects of oral mammalian target of rapamycin (mTOR) inhibitors in children and adolescents with tuberous sclerosis complex (TSC) and intractable epilepsy or subependymal giant cell astrocytoma (SEGA). STUDY DESIGN Single-center series of 13 children and adolescents with TSC who received sirolimus or everolimus(More)
Asparagine Synthetase Deficiency is a recently described cause of profound intellectual disability, marked progressive cerebral atrophy and variable seizure disorder. To date there has been limited functional data explaining the underlying pathophysiology. We report a new case with compound heterozygous mutations in the ASNS gene (NM_183356.3:c. [866G>C];(More)
Myotonic dystrophy type 1 (DM1) is multisystem disease arising from mutant CTG expansion in the non-translating region of the dystrophia myotonica protein kinase gene. While DM1 is the most common adult muscular dystrophy, with a worldwide prevalence of one in eight thousand, age of onset varies from before birth to adulthood. There is a broad spectrum of(More)
AIM This article describes the association of severe iron-deficiency anaemia with Helicobacter pylori gastritis. RESULTS We report three children who had symptomatic iron-deficiency anaemia with no obvious clinical cause and refractory to iron replacement therapy. All three underwent a diagnostic endoscopy and were found to have H. pylori gastritis.(More)
OBJECTIVES To evaluate the efficacy, tolerability, and compliance of 3 ketogenic diets, the classical ketogenic diet, medium-chain triglyceride (MCT), and modified Atkins diet. STUDY DESIGN A single-center, retrospective study of 48 children with intractable epilepsy receiving ketogenic diets from 2003 to 2012. Patient demographics, epilepsy history,(More)
Mitochondrial dysfunction is increasingly being recognized as a therapeutic target in PLA26G-associated neurodegeneration (PLAN). We demonstrated in Drosophila and in human PLA2G6 mutant fibroblasts that loss of normal PLA2G6 activity is associated with increased mitochondrial lipid peroxidation and mitochondrial dysfunction. Furthermore, we identified the(More)
The inherited myopathies and muscular dystrophies are a diverse group of muscle diseases presenting with common complaints and physical signs: weakness, motor delay, and respiratory and bulbar dysfunction. The myopathies are caused by genetic defects in the contractile apparatus of muscle, and defined by distinctive histochemical or ultrastructural changes(More)
AIM To develop and evaluate an online educational package instructing paediatricians and trainees in the diagnosis and management of a first unprovoked seizure in children. METHODS The E-learning content was created following a comprehensive literature review that referenced current international guidelines. Rigorous consultation with local paediatric(More)
Epileptic encephalopathies are characterized by frequent severe seizures, and/or prominent interictal epileptiform discharges on the electroencephalogram, developmental delay or deterioration, and usually a poor prognosis. The epileptiform abnormalities themselves are believed to contribute to the progressive disturbance in cerebral function. Determining(More)
OBJECTIVES Myotonic dystrophy type 1 (DM1) is an autosomal dominant neuromuscular disease with variable severity that affects all ages. Sleepiness is an important co-morbidity affecting a large proportion of paediatric DM1 patients. The current study examined the relationship between sleepiness and quality of life in a paediatric DM1 cohort. METHODS A(More)