Upper limb disease evolution in exon 53 skipping eligible patients with Duchenne muscular dystrophy

Objective: To understand the natural disease upper limb progression over 3 years of ambulatory and non-ambulatory patients with Duchenne muscular dystrophy (DMD) using functional assessments and quantitative magnetic resonance imaging (MRI) and to exploratively identify prognostic factors. Methods: Forty boys with DMD (22 non-ambulatory and 18 ambulatory) with deletions in dystrophin that make them eligible for exon 53-skipping therapy were included. Clinical assessments, including Brooke score, motor function measure (MFM), hand grip and key pinch strength, and upper limb distal coordination and endurance (MoviPlate), were performed every 6 months and quantitative MRI of fat fraction (FF) and lean muscle cross sectional area (flexor and extensor muscles) were performed yearly. Results: In the whole population, there were strong nonlinear correlations between outcome measures. In non-ambulatory patients, annual changes over the course of 3 years were detected with high sensitivity standard response mean (|SRM| ≥0.8) for quantitative MRI-based FF, hand grip and key pinch, and MFM. Boys who presented with a FF27% were able to bring a glass to their mouth and retained this ability in the following 3 years. Ambulatory patients with grip strength >35% of predicted value and FF <10% retained ambulation 3 years later. Interpretation: We demonstrate that continuous decline in upper limb strength, function, and MRI measured muscle structure can be reliably measured in ambulatory and non-ambulatory boys with DMD with high SRM and strong correlations between outcomes. Our results suggest that a combination of grip strength and FF can be used to predict important motor milestones

Predicting epiphyseal stability of slipped capital femoral epiphysis with preoperative CT imaging.

BackgroundWe analyzed preoperative CT scans of hips with slipped capital femoral epiphysis (SCFE) for characteristics that could be predictive of intraoperative epiphyseal stability and developed a set of imaging criteria for stable and unstable SCFE. We then compared this grading system with the Loder classification.MethodsWe reviewed preoperative CT imaging to develop a SCFE stability classification system. Three orthopaedic surgeons used the classification system to grade stability on a series of SCFE hips. Kappa was used to evaluate intra- and interobserver reliability among the observers. A series of SCFE hips treated with open procedures in which intraoperative stability was determined under direct visualization was evaluated. Intraoperative stability was compared with stability ratings as determined by the CT classification system and the Loder classification system.ResultsInterobserver reliability among our three observers was κ = 0.823 (95% confidence interval (CI) 0.414 to 1.0; p &lt; 0.001). Intraobserver reliability was κ = 0.901 (95% CI 0.492 to 1.31; p &lt; 0.001). In all, 27 hips were used in the comparison of intraoperative stability with the Loder and CT classification systems. CT-predicted stability exhibited 78% concordance with intraoperative stability. The sensitivity and specificity of CT-predicted stability was 75% and 82%, respectively, versus Loder sensitivity of 69% and specificity of 91%.ConclusionThe CT evaluation method provided is easy to use and can help to improve the accuracy in determining preoperative epiphyseal stability, which may lead to improved treatment outcomes for this population.Level of evidenceIII