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Distinct clinical syndromes have been associated with pathogenic MT‐ATP6 variants. In this cohort study, we identified 125 individuals (60 families) including 88 clinically affected individuals and 37 asymptomatic carriers. Thirty‐one individuals presented with Leigh syndrome and 7 with neuropathy ataxia retinitis pigmentosa. The remaining 50 patients presented with variable nonsyndromic features including ataxia, neuropathy, and learning disability. We confirmed maternal inheritance in 39 families and demonstrated that tissue segregation patterns and phenotypic threshold are variant dependent. Our findings suggest that MT‐ATP6–related mitochondrial DNA disease is best conceptualized as a mitochondrial disease spectrum disorder and should be routinely included in genetic ataxia and neuropathy gene panels. ANN NEUROL 2019;86:310–315
Decontamination with Sani-Cloth CHG 2% wipes confers additional advantages over routine autoclaving or handle disposal, due to a residual effect. Autoclaving handles may be desirable on a scheduled basis and if Clostridium difficile is encountered.
Background: Arthroscopic shoulder surgery is increasingly performed as a day case procedure. Optimal post-operative pain relief remains a challenge due to considerable variations in the level of pain experienced between individuals. Our aim was to examine whether the preoperative electrical pain threshold was a strong predictor of elevated postoperative pain levels following arthroscopic subacromial decompression (ASD) surgery.
Methods: Forty consenting patients with American Society of Anesthesiologists (ASA) grade 1-2 presenting for elective ASD surgery were recruited. Patients’ electrical pain thresholds were measured preoperatively using a PainMatcher® (Cefar Medical AB, Lund, Sweden) device. Following surgery under general anaesthesia, the maximum pain experienced at rest and movement was recorded using a visual analogue scale until the end of postoperative day four.
Results: In univariate analyses (t-test), the postoperative pain experienced (Area Under Curve) was significantly greater in patients with a low pain threshold as compared with a high pain threshold at both rest (mean 12.5, S.E. 1.7 v mean 6.5, S.E.1.2. P=0.008) and on movement (mean 18.7, S.E. 1.5 v mean 14.1, S.E.1.4. P=0.031). In multivariate analyses, adjusting for additional extra analgesia, the pain experienced postoperatively was significantly greater in the low pain threshold group both at rest (mean difference 4.9, 95% CI 1.5 to 8.4, P=0.007) and on movement (mean difference 4.1, 95%CI 0.03 to 8.2, P=0.049).
Conclusions: Preoperative pain threshold can predict postoperative pain level following ASD of the shoulder.
Trial registration: Clinicaltrials.gov identifier: NCT01351363
Level of Evidence: II
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