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The neurofibromatoses are autosomal dominant diseases that have widespread effects on ectodermal and mesodermal tissue. The commonest member of the group is neurofibromatosis type 1 (NF1) which varies in severity but which can affect all physiological systems. Neurofibromas are the characteristic lesions of the condition and not only occur in the neuraxis(More)
BACKGROUND Cognitive overload has been recognized as a significant cause of error in industries such as aviation and measuring mental workload has become a key method of improving safety. The aim of this study was to pilot the use of a new method of measuring mental workload in the operating theatre using a previously published methodology. METHODS The(More)
Mental workload is seen as a key factor in defining performance and expertise in some complex work environments, but there are no validated instruments for assessing mental workload in anaesthesia. We studied the mental workload of 20 anaesthetists of varying levels of experience, during five routine cases each, by measuring the delay in their responses to(More)
Keynote address: " Clinical Implications of 2-day whole genome sequencing of acutely ill infants " Prof. Comparative Genomic Hybridisation (CGH) Microarray has been available in Ireland to Paediatricians from the year 2011. Guidelines for investigation of infants and children with features of developmental delay, dysmorphic features and some cases of(More)
Keynote address: " Sweet dreams: using genome wide association methods to find genes for diabetes and obesity " Irish Travellers are a nomadic people in whom early marriage, frequent child bearing and consanguinity are cultural norms. They number 22,445, <0.5% of the Irish population, 9.6% of the 1465 patients listed at NCIMD on January 1 st 2007 were(More)
Dysbindin is known to (a) bind ß-dystrobrevin in postsynaptic densities in a number of brain areas, and (b) be a component of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Reduced levels of dysbindin have been identified presynaptically at hippocampal formation sites lacking ß-dystrobrevin in schizophrenia cases. This suggests a role for(More)
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