Assessment of disease progression in dysferlinopathy: A 1-year cohort study.

OBJECTIVE: To assess the ability of functional measures to detect disease progression in dysferlinopathy over 6 months and 1 year. METHODS: One hundred ninety-three patients with dysferlinopathy were recruited to the Jain Foundation's International Clinical Outcome Study for Dysferlinopathy. Baseline, 6-month, and 1-year assessments included adapted North Star Ambulatory Assessment (a-NSAA), Motor Function Measure (MFM-20), timed function tests, 6-minute walk test (6MWT), Brooke scale, Jebsen test, manual muscle testing, and hand-held dynamometry. Patients also completed the ACTIVLIM questionnaire. Change in each measure over 6 months and 1 year was calculated and compared between disease severity (ambulant [mild, moderate, or severe based on a-NSAA score] or nonambulant [unable to complete a 10-meter walk]) and clinical diagnosis. RESULTS: The functional a-NSAA test was the most sensitive to deterioration for ambulant patients overall. The a-NSAA score was the most sensitive test in the mild and moderate groups, while the 6MWT was most sensitive in the severe group. The 10-meter walk test was the only test showing significant change across all ambulant severity groups. In nonambulant patients, the MFM domain 3, wrist flexion strength, and pinch grip were most sensitive. Progression rates did not differ by clinical diagnosis. Power calculations determined that 46 moderately affected patients are required to determine clinical effectiveness for a hypothetical 1-year clinical trial based on the a-NSAA as a clinical endpoint. CONCLUSION: Certain functional outcome measures can detect changes over 6 months and 1 year in dysferlinopathy and potentially be useful in monitoring progression in clinical trials. CLINICALTRIALSGOV IDENTIFIER: NCT01676077.

The Clinical Outcome Study for dysferlinopathy: An international multicenter study.

OBJECTIVE: To describe the baseline clinical and functional characteristics of an international cohort of 193 patients with dysferlinopathy. METHODS: The Clinical Outcome Study for dysferlinopathy (COS) is an international multicenter study of this disease, evaluating patients with genetically confirmed dysferlinopathy over 3 years. We present a cross-sectional analysis of 193 patients derived from their baseline clinical and functional assessments. RESULTS: There is a high degree of variability in disease onset, pattern of weakness, and rate of progression. No factor, such as mutation class, protein expression, or age at onset, accounted for this variability. Among patients with clinical diagnoses of Miyoshi myopathy or limb-girdle muscular dystrophy, clinical presentation and examination was not strikingly different. Respiratory impairment and cardiac dysfunction were observed in a minority of patients. A substantial delay in diagnosis was previously common but has been steadily reducing, suggesting increasing awareness of dysferlinopathies. CONCLUSIONS: These findings highlight crucial issues to be addressed for both optimizing clinical care and planning therapeutic trials in dysferlinopathy. This ongoing longitudinal study will provide an opportunity to further understand patterns and variability in disease progression and form the basis for trial design.

Two-year outcomes of MOBILITY Total Ankle Replacement.

BACKGROUND: There is little literature on patient-reported outcomes following total ankle replacement in patients with osteoarthritis, posttraumatic osteoarthritis, and rheumatoid arthritis. We compared the differences in demographic data and clinical and patient-reported outcomes among patients with those types of arthritis who underwent total ankle replacement performed with use of the MOBILITY Total Ankle System. METHODS: Patients were divided into three groups based on the preoperative diagnosis of type of arthritis. We analyzed patient demographic data, American Orthopaedic Foot & Ankle Society (AOFAS) scores, and patient-reported outcomes as measured with use of the Foot and Ankle Outcome Score (FAOS), the 36-item Short-Form (SF-36) Health Survey, and patient-satisfaction scores, collected preoperatively and at one and two years postoperatively. RESULTS: The study included 106 consecutive patients who underwent total ankle replacement between March 2006 and December 2009. The posttraumatic osteoarthritis group, which had twenty-eight patients, was significantly younger (mean age, 54.8 yrs; p < 0.05) than the other groups; the rheumatoid arthritis group, which had twenty-two patients, had a significantly lower mean body mass index (24.5 kg/m(2); p < 0.05); and the osteoarthritis group, which had fifty-six patients, had a higher proportion of males (41 males; p < 0.05). The posttraumatic osteoarthritis group reported better scores for two of the eight domains of the SF-36 preoperatively. At one year postoperatively, the posttraumatic osteoarthritis group and the rheumatoid arthritis group had better FAOS results regarding pain than those of the osteoarthritis group, and the posttraumatic osteoarthritis group also reported better scores for the general health domain of the SF-36. At two years, the posttraumatic group continued to show significantly higher scores for the general health domain of the SF-36. There was no significant difference between the groups in terms of the AOFAS scores, other FAOS results, or the patient-satisfaction scores at one and two years postoperatively. CONCLUSIONS: Our findings suggest that early outcomes after total ankle replacement for patients with posttraumatic osteoarthritis are comparable with those for patients with osteoarthritis and rheumatoid arthritis.

Influence of body mass index (BMI) on functional improvements at 3 years following total knee replacement: a retrospective cohort study.

BACKGROUND: The number of patients presenting for total knee replacement who are classified as obese is increasing. The functional benefits of performing TKR in these patients are unclear. AIM: To assess the influence pre-operative body mass index has upon knee specific function, general health status and patient satisfaction at 3 years following total knee replacement. DESIGN: Retrospective comparative cohort study using prospectively collected data from an institutional arthroplasty register. METHODS: 1367 patients were assessed using the Western Ontario and McMaster University Osteoarthritis Index (WOMAC) and Medical Outcomes Trust Short Form-36 (SF-36) scores supplemented by a validated measure of satisfaction pre-operatively and subsequently at 1,2 and 3 year post-operatively. Comparisons were made by dividing the cohort into 4 groups based on body mass index (BMI) 18.5-25.0 kg/m(2) (n = 253);>25.0-30.0 kg/m(2) (n = 559);>30.0-35.0 kg/m(2) (n = 373);>35.0 kg/m(2) (n = 182). RESULTS: Despite lower pre-operative, 1 and 3 year WOMAC and SF-36 scores patients with the highest BMIs >35.0 kg/m(2) experienced similar improvements to patients with a 'normal' BMI (18.5-25.0 kg/m(2)) at 1 year (Difference in WOMAC improvement = 0.0 (95%CI -5.2 to 5.2), p = 1.00) and this improvement was sustained at up to 3 years (Difference in 1 year to 3 year improvement = 2.2 (95%CI: -2.1 to 6.5), p = 1.00). This effect was also observed for the SF-36 mental and physical component scores. Despite equivalent functional improvements levels of satisfaction in the >35.0 kg/m(2) group were lower than for any other BMI group (>35.0 kg/m(2) = 84.6% satisfied versus 18.5-5.0 kg/m(2) = 93.3% satisfied,p = 0.01) as was the proportion of patients who stated they would have the operation again (>35.0 kg/m(2) = 69.6% versus 18.5-25.0 kg/m(2) = 82.2%,p = 0.01). CONCLUSION: Obese and morbidly obese patients gain as much functional benefit from total knee replacement as patients with lesser body mass indexes. This benefit is maintained for up to 3 years following surgery. However, these patients are less satisfied with their knee replacement and almost a third would not have the operation again.

Functional outcome following aseptic single-stage revision knee arthroplasty.

PURPOSE: This study attempts to quantify the influence of constraint and various indications upon functional outcome following aseptic first-time revision knee arthroplasty. METHODS: A single-centre prospective study was performed to examine the outcome for 175 consecutive total revision knee replacements performed between 2003 and 2008 with a minimum follow-up of 2 years. Patient-reported outcome data were used to determine the influence of final level of component constraint, its relationship with primary indication for surgery and the predictor variable for functional outcome at 1 year. RESULTS: All patients were found to have a significant improvement for WOMAC pain, function and stiffness score and physical functioning, role physical, bodily pain and social functioning components of SF-36 score. About 69% were satisfied with the overall procedure. WOMAC function, pain and stiffness score was significantly worse for patients revised for instability (27%) compared to that for aseptic loosening (46%). A significantly higher proportion of patients were satisfied with the procedure, had a better quality of life and would have the surgery again in the aseptic loosening group as compared to the instability group. Revision to a higher level of constraint did not improve knee function irrespective of the primary indication for surgery. CONCLUSION: This study has found that revision for instability, irrespective of choice of new device, was met with significantly poorer functional outcome. The level of constraint did not influence functional outcome. LEVEL OF EVIDENCE: II.

When do patient-reported assessments peak after revision knee arthroplasty?

BACKGROUND: The best timing for patient visits after revision TKA is unclear. Predictors of pain and function reported in the literature typically look at the influence at a given time that might not be ideal if the score is not at a peak or the earliest possible time. Moreover, most reports of predictors include revisions for infection, which typically have a poorer outcome, or for other indications with variable outcome. QUESTIONS/PURPOSES: We therefore determined (1) the trend of recovery after revision TKA to determine the best time to measure the peak patient-reported pain and function scores and (2) the influence of comorbidities and age on the patterns of recovery. METHODS: We prospectively followed 120 patients who had revision TKAs from 2003 to 2008. The patients were assessed within 6 weeks before surgery and at 12 weeks, 1 year, and annually thereafter. We obtained WOMAC and SF-36 scores at each visit. We used a linear mixed model analysis to assess predictors. The minimum followup was 2 years (mean, 3 years; range, 2-7 years). RESULTS: The majority of improvements in the WOMAC and SF-36 scores occurred during the first year after surgery after which the scores stabilized. One of the seven independent preoperative variables studied (comorbidities) predicted a trend toward improvement of WOMAC pain, WOMAC function, and SF-36 bodily pain scores. The greater the numbers of comorbidities, the worse were the scores. Age, gender, BMI, indication for surgery, and surgeon did not independently influence the WOMAC or SF-36. CONCLUSION: Our data suggest that one of the times for patient visits after revision TKA should be 1 year after surgery. This time allows for key discrimination of implant performance. The data also confirm that patients with a greater number of comorbidities had less functional benefit from revision surgery. LEVEL OF EVIDENCE: Level II, prognostic study. See the Guidelines for Authors for a complete description of levels of evidence.

All-polyethylene compared with metal-backed tibial components in total knee arthroplasty at ten years. A prospective, randomized controlled trial.

BACKGROUND: Several studies have described equivalent performance on radiostereometric analysis at two years for metal-backed compared with all-polyethylene stemmed tibial implants. The purpose of this study was to determine the ten-year survivorship results of these two designs from a large randomized controlled trial. METHODS: Patients who were fifty years old or more, with no history of infection, and were undergoing primary total knee arthroplasty were randomized at the time of surgery to receive either an all-polyethylene or a metal-backed tibial component. Patients were assessed preoperatively and at one, three, five, eight, and ten years postoperatively. All assessments included a clinical history, a physical examination, and a radiographic evaluation. A total of 510 consecutive patients (566 knees) were recruited from August 1993 to January 1997. The mean age of the patients at the time of the index arthroplasty was 69.3 years, and 299 (59%) were women. The primary diagnosis was osteoarthritis for 458 knees (80.9%) and rheumatoid arthritis for 108 knees (19.1%). RESULTS: Two hundred and ninety-three patients returned for the ten-year follow-up evaluation. A total of twenty-eight knees had been revised. Ten-year survivorship, with revision for any reason (or the time at which patients were documented as requiring revision but were unfit for surgery) as the end point, was 94.5% (95% confidence interval, 90.4% to 96.8%) for the all-polyethylene design and 96% (95% confidence interval, 92.6% to 97.8%) for the metal-backed design. Ten-year survivorship, with aseptic failure as the end point, was 97% (95% confidence interval, 93.3% to 98.7%) for the all-polyethylene design and 96.8% (95% confidence interval, 93.6% to 98.4%) for the metal-backed design. On the basis of the numbers available at ten years, there was no significant difference in survivorship between the two designs (p > 0.05). CONCLUSIONS: The long-term results demonstrate excellent survivorship, with revision as the end point, for both the metal-backed and the all-polyethylene tibial component designs with no differences noted between the two.