British journal of anaesthesia
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Case Reports
A multi-dimensional analysis of genotype-phenotype discordance in malignant hyperthermia susceptibility.
Malignant hyperthermia (MH) susceptibility is an inherited condition, diagnosed either by the presence of a pathogenic genetic variant or by in vitro caffeine-halothane contracture testing. Through a multi-dimensional approach, we describe the implications of discordance between genetic and in vitro test results in a patient with a family history of possible MH. ⋯ Available data do not confirm or exclude an increased risk of MH for this patient. Further research is needed to correlate RyR1 functional assays, including the current gold standard testing for MH susceptibility, with clinical phenotypes. The pathogenicity of genetic variants associated with MH susceptibility should be re-evaluated.
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Observational Study
Safety and 30-day outcomes of tracheostomy for COVID-19: a prospective observational cohort study.
The role of tracheostomy in coronavirus disease 2019 (COVID-19) is unclear, with several consensus guidelines advising against this practice. We developed both a dedicated airway team and coordinated education programme to facilitate ward management of tracheostomised COVID-19 patients. Here, we report outcomes in the first 100 COVID-19 patients who underwent tracheostomy at our institution. ⋯ Independent of the severity of critical illness from COVID-19, 30-day survival was higher and ICU stay shorter in patients receiving tracheostomy. Early tracheostomy appears to be safe in COVID-19.
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Existing genetic information can be leveraged to identify patients with susceptibilities to conditions that might impact their perioperative care, but clinicians generally have limited exposure and are not trained to contextualise this information. We identified patients with genetic susceptibilities to anaesthetic complications using a perioperative biorepository and characterised the concordance with existing diagnoses. ⋯ We identified patients with genetic susceptibility to perioperative complications using an open source script designed for clinician use. We validated this application in a retrospective analysis for three conditions with well-characterised inheritance, and showed that not all genetic susceptibilities were documented in the EHR.
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Randomized Controlled Trial
Cerebral blood flow alterations associated with high volume caudal block in infants.
High-volume (1.5 ml kg-1) caudal block in infants results in major reductions of cerebral blood flow velocity (CBFV) and cerebral oxygenation, caused by rostral CSF movement which increases intracranial pressure. The primary aim of this study was to determine the relationship between injected volume and CBFV changes. We hypothesised that this volume-blood flow relationship would have a similar albeit inverted shape to the well-known intracranial pressure volume-pressure curve. ⋯ Injection pauses appear to attenuate adverse CBFV increases during administration of a high-volume caudal block.