Unlike Mendelian epilepsies, complex epilepsies may be due to the effect of several or multiple susceptibility genes. Association studies have been used in the past decade to help identify common genetic variants underpinning complex epilepsies. However, as the data in the Epilepsy Genetic Association Database (epiGAD) show, many of these studies have been negative, or have shown confl icting results. Overall, most putative gene-disease associations are weak. Inadequate sample size is the most likely cause. Multicentre collaborations are vital.
A 43-year-old man with no past history presented with symptoms of fever, cough and dyspnoea arising from invasive pulmonary aspergillosis and was found to have myelodysplastic syndrome with monosomy 7. Before initiation of chemotherapy, he deteriorated rapidly, developing multi-organ failure requiring mechanical ventilation, and he eventually succumbed despite amphotericin B treatment. The importance of monosomy 7 in determining immune function in patients with myelodysplastic syndrome is emphasised.
642 http://neurology.thelancet.com Vol 5 August 2006 bias due to diff ering epilepsy severity in earlier ABCB1 studies leaves the possibility that ABCB1 is contributory in a few patients with severe refractory epilepsy, although the evidence looks increasingly tenuous. Metaanalysis of all ABCB1 studies may provide resolution, but heterogeneity of patients will be a challenge. What lessons can we take home from the work of Leschziner and colleagues? First, they should be congratulated for showing that a prospective genetic-association study of epilepsy is feasible. The prospective design will ensure that, with time, we can look forward to the emergence of new data from the cohort, including late development of AED resistance. Second, researchers should consider doing a metaanalysis using a consensus defi nition of AED resistance. Finally, clinicians can take comfort in the fact that while researchers grapple with defi ning AED resistance, clinical predictors (panel) continue to provide guidance on caring for patients with epilepsy. Nigel C K Tan, Samuel F Berkovic Department of Neurology, National Neuroscience Institute, Singapore (NCKT); and Epilepsy Research Centre and Department of Medicine, University of Melbourne, Austin Health, Heidelberg West, Victoria, Australia (SFB) s.berkovic@unimelb.edu.au
The COVID-19 pandemic has disrupted healthcare systems and health professions education (HPE).There are few frameworks to help educators manage HPE before, during and after pandemics and epidemics.We developed a crisis management framework which draws from diverse theories to emphasise preparedness, leadership, stakeholder perceptions and organisational learning to provide guidance. 1Bundy et al. define crisis management in 3 stages: before, during and after a crisis.This allows detailed response planning. 1We adapted it to derive a framework for HPE in pandemics and epidemics (HPEPE).This framework is relevant as it reminds educators to not only focus on the present pandemic, but also the steps to take before and after the crisis to learn and prepare further for the future.We performed a systematic literature review and identified 208 publications relevant to HPEPE.We distilled the key points, grouped them into 6 elements, reaffirmed representativeness, then mapped them back to the crisis management framework. 1We describe 6 elements, comprising 6 Cs-curriculum, continuing professional development (CPD), communications, courage, communities and continuity-and demonstrate their relevance to HPEPE and crisis management stages.Table 1 illustrates how our proposed framework was applied during the COVID-19 pandemic in the Singapore context.Curriculum.3][4] Hybrid models, combining remote and onsite teaching and training could be adopted.Similarly, to minimise risk of exposure, alternatives could be used for assessments, such as electronic proctoring for written examinations, or use of simulated patients and videoconferencing for clinical assessments.Virtual selection interviews and even graduation ceremonies could be conducted online.Investing in technology resources (high-speed Internet access, video-production facilities, videoconferencing software and learning management systems 5 ) and upskilling faculty to thoughtfully use technology 5 are crucial for HPEPE.While technological innovations are welcome, educational principles should guide design and implementation, 5 with emphasis placed on programme evaluation.Context must be considered during implementation.Uptake of technology varies depending
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease characterized by a triad of progressive motor dysfunction, cognitive decline and psychiatric disturbances. The hallmark of HD is the distinctive choreiform movement disorder that typically has a subtle, insidious onset in the fourth to fifth decade of life and gradually worsens over 10 to 20 years until death. Notably, two-thirds of HD patients present with chorea and one third with mental changes. The prevalence of psychiatric symptoms is significantly higher than in the general population, and is estimated to be around 66–73%. Here, we report a unique case of subsequent onset of HD in a patient previously treated for schizophrenia and complicated by the extrapyramidal side effects to antipsychotics.
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