ORCID Profile
0000-0001-7793-642X
Current Organisation
The University of Edinburgh
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Publisher: Springer Science and Business Media LLC
Date: 20-04-2020
DOI: 10.1186/S13063-020-04292-4
Abstract: After publication of our article [1] we have been notified that two of the author names have been mistakenly removed from the authorship list: Colin R. Howie and Nicholas D. Clement.
Publisher: Elsevier BV
Date: 08-2019
Publisher: Springer Science and Business Media LLC
Date: 2000
Abstract: EXT1 and EXT2 are two genes responsible for the majority of cases of hereditary multiple exostoses (HME), a dominantly inherited bone disorder. In order to develop an efficient screening strategy for mutations in these genes, we performed two independent blind screens of EXT1 and EXT2 in 34 unrelated patients with HME, using denaturing high-performance liquid chromatography (DHPLC) and fluorescent single-strand conformation polymorphism analysis (F-SSCP). The mutation likely to cause HME was found in 29 (85%) of the 34 probands: in 22 of these (76%), the mutation was in EXT1 seven patients (24%) had EXT2 mutations. Nineteen of these disease mutations have not been previously reported. Of the 42 different licon variants identified in total in the cohort, 40 were detected by DHPLC and 39 by F-SSCP. This corresponds to mutation detection efficiencies of 95% and 93% respectively. We have also found that we can confidently distinguish between different sequence variants in the same fragment using F-SSCP but not DHPLC. In light of this, and the similarly high sensitivities of the two techniques, we propose to continue screening with F-SSCP.
Publisher: British Editorial Society of Bone & Joint Surgery
Date: 09-2004
DOI: 10.1302/0301-620X.86B7.14815
Abstract: We performed a prospective genotype-phenotype study using molecular screening and clinical assessment to compare the severity of disease and the risk of sarcoma in 172 in iduals (78 families) with hereditary multiple exostoses. We calculated the severity of disease including stature, number of exostoses, number of surgical procedures that were necessary, deformity and functional parameters and used molecular techniques to identify the genetic mutations in affected in iduals. Each arm of the genotype-phenotype study was blind to the outcome of the other. Mutations EXT1 and EXT2 were almost equally common, and were identified in 83% of in iduals. Non-parametric statistical tests were used. There was a wide variation in the severity of disease. Children under ten years of age had fewer exostoses, consistent with the known age-related penetrance of this condition. The severity of the disease did not differ significantly with gender and was very variable within any given family. The sites of mutation affected the severity of disease with patients with EXT1 mutations having a significantly worse condition than those with EXT2 mutations in three of five parameters of severity (stature, deformity and functional parameters). A single sarcoma developed in an EXT2 mutation carrier, compared with seven in EXT1 mutation carriers. There was no evidence that sarcomas arose more commonly in families in whom the disease was more severe. The sarcoma risk in EXT1 carriers is similar to the risk of breast cancer in an older population subjected to breast-screening, suggesting that a role for regular screening in patients with hereditary multiple exostoses is justifiable.
Publisher: BMJ
Date: 02-2019
DOI: 10.1136/BMJOPEN-2018-021614
Abstract: To assess a targeted ‘therapy as required’ model of post-discharge outpatient physiotherapy provision. Specifically, we investigated what proportion of patients accessed post-discharge physiotherapy following total hip arthroplasty (THA) and total knee arthroplasty (TKA), whether accessing therapy was associated with post-arthroplasty patient reported outcomes and whether it was possible to predict which patients would access post-discharge physiotherapy from pre-operative data. Prospective, observational, longitudinal cohort study. Single National Health Service orthopaedic teaching hospital in the UK. 1395 patients undergoing total hip arthroplasty and 1374 patients undergoing total knee arthroplasty. Self-reported access of post-discharge physiotherapy, the Oxford Hip or Knee Score, EuroQol 5-dimension questionnaire and post-operative surgical episode satisfaction metric. 662 (48.2%) patients with TKA and 493 (35.3%) patients with THA accessed additional post-discharge physiotherapy. Patient-reported outcomes (p .001) and surgical episode satisfaction (p=0.001) in both THA and TKA were higher in patients that did not participate in post-discharge physiotherapy. Regression models using pre-operative symptom burden and demographic data predicted post-discharge therapy access with an accuracy of only 17% greater than chance in patients with THA and 7% greater than chance in patients with TKA. In a choice-based service model of ‘therapy as required’ following hip and knee arthroplasty only a third of THA and half of TKA patients accessed post-discharge therapy. Patients who did not access physiotherapy reported greater post-operative outcomes. This variation in the need for post-discharge physiotherapy suggests that targeting of rehabilitation may be a cost-effective model, however it was not possible to reliably predict which patients would access post-discharge physiotherapy from pre-operative data.
Publisher: Springer Science and Business Media LLC
Date: 19-02-2020
DOI: 10.1186/S13063-019-3709-5
Abstract: Patients’ pre-operative health and physical function is known to influence their post-operative outcomes. In patients with knee osteoarthritis, pharmacological and non-pharmacological options are often not optimised prior to joint replacement. This results in some patients undergoing surgery when they are not as fit as they could be. The aim of this study is to assess the feasibility and acceptability of a pre-operative package of non-operative care versus standard care prior to joint replacement. This is a multicentre, randomised controlled feasibility trial of patients undergoing primary total knee replacement for osteoarthritis. Sixty patients will be recruited and randomised (2:1) to intervention or standard care arms. Data will be collected at baseline (before the start of the intervention), around the end of the intervention period and a minimum of 90 days after the planned date of surgery. Adherence will be reviewed each week during the intervention period (by telephone or in person). Participants will be randomised to a pre-operative package of non-operative care or standard care. The non-operative care will consist of (1) a weight-loss programme, (2) a set of exercises, (3) provision of advice on analgesia use and (4) provision of insoles. The intervention will be started as soon as possible after patients have been added to the waiting list for joint replacement surgery to take advantage of the incentive for behavioural change that this will create. The primary outcomes of this study are feasibility outcomes which will indicate whether the intervention and study protocol is feasible and acceptable and whether a full-scale effectiveness trial is warranted. The following will be measured and used to inform study feasibility: rate of recruitment, rate of retention at 90-day follow-up review after planned surgery date, and adherence to the intervention estimated through review questionnaires and weight change (for those receiving the weight-loss aspect of intervention). In addition the following information will be assessed qualitatively: analysis of qualitative interviews exploring acceptability, feasibility, adherence and possible barriers to implementing the intervention, and acceptability of the different outcome measures. The aims of the study specifically relate to testing the feasibility and acceptability of the proposed effectiveness trial intervention and the feasibility of the trial methods. This study forms the important first step in developing and assessing whether the intervention has the potential to be assessed in a future fully powered effectiveness trial. The findings will also be used to refine the design of the effectiveness trial. ISRCTN registry, ID: ISRCTN96684272 . Registered on 18 April 2018.
Publisher: Springer Science and Business Media LLC
Date: 02-2014
Publisher: BMJ
Date: 13-10-2020
DOI: 10.1136/BMJ.M3576
Abstract: To evaluate whether a progressive course of outpatient physiotherapy offers superior outcomes to a single physiotherapy review and home exercise based intervention when targeted at patients with a predicted poor outcome after total knee arthroplasty. Parallel group randomised controlled trial. 13 secondary and tertiary care centres in the UK providing postoperative physiotherapy. 334 participants with knee osteoarthritis who were defined as at risk of a poor outcome after total knee arthroplasty, based on the Oxford knee score, at six weeks postoperatively. 163 were allocated to therapist led outpatient rehabilitation and 171 to a home exercise based protocol. All participants were reviewed by a physiotherapist and commenced 18 sessions of rehabilitation over six weeks, either as therapist led outpatient rehabilitation (progressive goal oriented functional rehabilitation protocol, modified weekly in one-one contact sessions) or as physiotherapy review followed by a home exercise based regimen (without progressive input from a physiotherapist). Primary outcome was Oxford knee score at 52 weeks, with a 4 point difference between groups considered to be clinically meaningful. Secondary outcomes included additional patient reported outcome measures of pain and function at 14, 26, and 52 weeks post-surgery. 334 patients were randomised. Eight were lost to follow-up. Intervention compliance was more than 85%. The between group difference in Oxford knee score at 52 weeks was 1.91 (95% confidence interval −0.18 to 3.99) points, favouring the outpatient rehabilitation arm (P=0.07). When all time point data were analysed, the between group difference in Oxford knee score was a non-clinically meaningful 2.25 points (0.61 to 3.90, P=0.01). No between group differences were found for secondary outcomes of average pain (0.25 points, −0.78 to 0.28, P=0.36) or worst pain (0.22 points, −0.71 to 0.41, P=0.50) at 52 weeks or earlier time points, or of satisfaction with outcome (odds ratio 1.07, 95% confidence interval 0.71 to 1.62, P=0.75) or post-intervention function (4.64 seconds, 95% confidence interval −14.25 to 4.96, P=0.34). Outpatient therapist led rehabilitation was not superior to a single physiotherapist review and home exercise based regimen in patients at risk of poor outcomes after total knee arthroplasty. No clinically relevant differences were observed across primary or secondary outcome measures. Current Controlled Trials ISRCTN23357609 and ClinicalTrials.gov NCT01849445 .
Publisher: Oxford University Press (OUP)
Date: 29-10-2010
Location: United Kingdom of Great Britain and Northern Ireland
Location: United Kingdom of Great Britain and Northern Ireland
Start Date: 2012
End Date: 2013
Funder: Versus Arthritis
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