Motor Function Characteristics of Adults With Late-Onset Pompe Disease: A Systematic Scoping Review.

BACKGROUND AND OBJECTIVES: Pompe disease is a rare neuromuscular disease caused by a deficiency of the lysosomal enzyme acid α-glucosidase. The late-onset Pompe disease (LOPD) in adults is characterized by weakness of ventilatory, axial, and proximal extremity muscles. These muscle impairments progressively impair various motor functions such as locomotion and postural control. Nearly 87% of adults with LOPD (aLOPD) report walking problems, and more than 80% report instability and falls. Knowledge of these motor functions is now sufficient to provide a clear and comprehensive overview of motor function in aLOPD. Therefore, this scoping review aimed to summarize current knowledge about motor function in aLOPD. It specifically targeted neuromuscular performance, locomotion, and postural control. METHODS: A systematic search in MEDLINE (through PubMed), EMBASE, and Cochrane databases was conducted until May 2021. We included studies providing primary data on at least 4 participants, exploring neuromuscular performance, locomotion, and/or postural control in aLOPD. Risk of bias analysis was assessed using tools appropriate to the study designs; the risk of bias 2 (Cochrane tool) for randomized controlled trials, risk of bias in Nonrandomized Studies - of Interventions (Cochrane tool) for nonrandomized interventional trials, and the Newcastle-Ottawa Scale for cohort studies and case-control studies. RESULTS: The search identified 2,885 articles. After screening, 58 articles were included in the analysis. In these studies, 88% explored locomotion, 83% neuromuscular performance, and 3% postural control. This review showed that aLOPD experience symmetrical weakness, concerning especially the hip and lumbar muscles. Locomotor activities are limited with a distance reduction, spatiotemporal gait parameter modification, and an increased pelvic drop and tilt. Balance disorders are also observed especially in the anteroposterior direction. DISCUSSION: We performed the first review on motor function characteristics in aLOPD. Although a significant amount of knowledge was synthesized in this review, our study also highlighted the lack of current research on this topic. Maximal muscle strength was the only neuromuscular performance studied, and gait biomechanics and postural control were poorly explored in LOPD. Relationships between the degree of muscle weakness and motor function alterations also remain to be determined in aLOPD.

Impact of synovial biopsy procedures and disease-specific aspects on synovial tissue outcome: a systematic literature review informing the EULAR points to consider for the minimal reporting requirements in synovial tissue research in rheumatology.

BACKGROUND: The aim of this work was to summarise the literature evaluating the impact of biopsy procedures, tissue handling, tissue quality and disease-specific aspects including joint biopsied and disease stage, on synovial tissue outcome. METHODS: Two reviewers independently identified eligible studies according to the Patients, Intervention, Comparator and Outcome framework obtained for five research questions formulated during the first EULAR task force meeting to produce points to consider (PtC) for minimal reporting requirements in synovial tissue studies. The databases explored were Medline, Embase, CENTRAL and Cinhal. The risk of bias of each study was evaluated using an adapted version of the Joanna Briggs Institute checklist for analytical cross-sectional studies. RESULTS: Of the 7654 records yielded, 75 full texts were assessed, leading to the inclusion of 26 manuscripts in the systematic literature review (SLR). Two papers assessed the impact of biopsy procedures on the quality and quantity of tissue retrieved alongside patient tolerability; six papers focused on synovial tissue variability. Four papers studied the impact of sample handling or randomisation and 14 assessed the impact of disease stage and state, namely early or established active rheumatoid arthritis and remission on histopathological and transcriptomic results. CONCLUSIONS: This SLR informs the EULAR PtC for minimal reporting requirements in synovial tissue research in rheumatology. Characteristics related to the study design, population, sample handling, randomisation and analysis can affect the final synovial tissue outcome in the studies reviewed. Thus, accurate reporting of these factors is required in order to ensure the scientific validity of manuscripts describing synovial tissue outcomes.

Efficacy of intra-articular corticosteroid injections in knee osteoarthritis: A systematic review and meta-analysis of randomized controlled trials.

OBJECTIVE: Knee osteoarthritis (OA) is a frequent degenerative disease representing an important health and economic burden. Symptomatic medical treatments available include intra-articular (IA) injections of corticosteroids (GC) but their efficacy and safety profile are debated. METHODS: We performed a systematic literature review (SLR) and a meta-analysis (MA) of randomized controlled trials (RCTs) assessing the effect of IA GC injections for knee OA. The effect of the interventions on pain and function was extracted from the single studies and pooled. Standardized mean differences (SMD) are reported. RESULTS: Of 520 studies screened, 23 were included in the SLR and 15 subsequently included in the MA. IA GC showed a trend towards a superior effect compared to control on both pain (SMD -0.61 (95% CI: -1.25, 0.03)) and function (SMD -1.02 (95% CI: -2.14, 0.10)) in short term follow-up (≤6 weeks), while long term follow-up (≥24 weeks) analysis showed a trend towards superiority of controls (IA HA, IA NSAID, physiotherapy) for pain (SMD 0.68 (95% CI: -0.11, 1.47)) and function (SMD 0.88 (95% CI: -0.36, 2.12). There were no differences between interventions in medium term (>6 weeks &<24 weeks). CONCLUSION: In this work, IA GC injections reduced pain and improved function early after administration (≤6 weeks) compared to placebo; while this result was no longer statistically significant with other comparators (IA hyaluronic acid or physiotherapy). Other interventions seem to be more efficient in the long term (≥24 weeks) but this effect was largely driven by single studies with large effect sizes.

Mobile Health Apps for Self-Management of Rheumatic and Musculoskeletal Diseases: Systematic Literature Review.

BACKGROUND: Although the increasing availability of mobile health (mHealth) apps may enable people with rheumatic and musculoskeletal diseases (RMDs) to better self-manage their health, there is a general lack of evidence on ways to ensure appropriate development and evaluation of apps. OBJECTIVE: This study aimed to obtain an overview on existing mHealth apps for self-management in patients with RMDs, focusing on content and development methods. METHODS: A search was performed up to December 2017 across 5 databases. For each publication relevant to an app for RMDs, information on the disease, purpose, content, and development strategies was extracted and qualitatively assessed. RESULTS: Of 562 abstracts, 32 were included in the analysis. Of these 32 abstracts, 11 (34%) referred to an app linked to a connected device. Most of the apps targeted rheumatoid arthritis (11/32, 34%). The top three aspects addressed by the apps were pain (23/32, 71%), fatigue (15/32, 47%), and physical activity (15/32, 47%). The development process of the apps was described in 84% (27/32) of the articles and was of low to moderate quality in most of the cases. Despite most of the articles having been published within the past two years, only 5 apps were still commercially available at the time of our search. Moreover, only very few studies showed improvement of RMD outcome measures. CONCLUSIONS: The development process of most apps was of low or moderate quality in many studies. Owing to the increasing RMD patients' willingness to use mHealth apps for self-management, optimal standards and quality assurance of new apps are mandatory.