European journal of neurology : the official journal of the European Federation of Neurological Societies
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Although several recent studies have implicated RYR1 mutations as a common cause of various myopathies and the malignant hyperthermia susceptibility (MHS) trait, many of these studies have been limited to certain age groups, confined geographical regions or specific conditions. The aim of the present study was to investigate the full spectrum of RYR1-related disorders throughout life and to use this knowledge to increase vigilance concerning malignant hyperthermia. ⋯ This broad range of RYR1-related disorders often presents to the general paediatric and adult neurologist. Its recognition is essential for genetic counselling and improving patients' safety during anaesthesia. Future research should focus on in vitro testing by the in vitro contracture test and functional characterization of the large number of RYR1 variants whose precise effects currently remain uncertain.
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The recently developed composite autonomic symptom score 31 (COMPASS-31) is a questionnaire that assess symptoms of dysautonomia. It was distilled from the well-established Autonomic Symptom Profile questionnaire. COMPASS-31 has not yet been externally validated. To do so, its psychometric properties and convergent validity in patients with and without objective diagnosis of small fiber polyneuropathy (SFPN) were assessed. ⋯ COMPASS-31 has good psychometric properties in the population of patients being evaluated for SFPN and thus it might be useful as an initial screening tool for the more expensive SFPN objective tests.
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Stroke is one of the major complications observed in patients with an implanted left ventricular assist device (LVAD). The purpose of this study was to clarify the types and characteristics of acute stroke in patients after LVAD implantation by using brain computed tomography (CT) findings. ⋯ Computed tomography findings of acute stroke after implantation of an LVAD are characteristically multifocal cortical lesions, regardless of brain infarction and hemorrhage. Unexpectedly, sulcus SAH was a common stroke subtype in patients with implanted LVADs. Sulcus SAH should be carefully examined in patients after LVAD implantation, when they complain of non-specific neurological complaints.