Genetic Characterization in Familial Rotator Cuff Tear: An Exome Sequencing Study

Background: multiple gene variants seem to contribute to rotator cuff (RC) tear susceptibility. The aim of the study is to perform an exome sequencing analysis within a family to identify rare gene variants predisposing to the development of RC tear. Material and methods: the exome sequencing was conducted in a family consisting of four individuals, two healthy and the remaining ones with bilateral RC tears. Variants in common among the two affected subjects were selected, and those in common with the healthy subject and those with a frequency >1% were removed. The potential pathogenicity of the variants was investigated using the predictions of several in silico tools from VarSome. Results: the exome sequencing yielded approximately 600,000 variants per patient, subsequently filtered according to frequency <1% and absence of association with other diseases. Removing variants common with the healthy subject, 348 rare variants among 248 genes were identified. Based on the risk of damaging, three candidate genes for RC tear were found: COL23A1, EMILIN3, and HDAC10. Conclusion: this is the first whole-exome sequencing analysis within a family to explore genetic predisposition in RC tear. The results reveal the presence of common damaging variants among affected individuals in the COL23A1, EMILIN3, and HDAC10 genes

Sleep Disturbance and Rotator Cuff Tears: A Systematic Review

Background and Objectives: Sleep disorders are one of the most common complaints of patients with rotator cuff (RC) tears. However, potential correlations between the treatment of RC tears and the causal factors of sleep disorders are still under discussion. The aim of this review is to evaluate quality of sleep in patients before and after surgery for RC tears and to identify which factors affected patients’ sleep. Materials and Methods: A systematic review was conducted. To provide high quality of the review, the included studies were evaluated with the standardized tool “Quality Assessment Tool for Quantitative Studies” developed by the Effective Public Health Practice Project. Results: The search strategy yielded 78 articles. After duplicate removal and titles, abstracts and full-texts review, four studies were included in the systematic review. Concerning shoulder function, the most frequently reported scale was the Simple Shoulder Test (SST). Regarding sleep quality, the most frequently reported score was the Pittsburgh Sleep Quality Index (PSQI). Conclusion: We found that the majority of patients with RC tears had a sleep disturbance, especially before surgery with a general improvement in sleep quality post-operatively. Moreover, sleep quality was correlated with pain and it also seems that factors as comorbidities, obligatory position during night time, preoperative and prolonged postoperative use of narcotics and psychiatric issues may play an important role in sleep quality

Scapular Dyskinesis: From Basic Science to Ultimate Treatment

Background: This study intends to summarize the causes, clinical examination, and treatments of scapular dyskinesis (SD) and to briefly investigate whether alteration can be managed by a precision rehabilitation protocol planned on the basis of features derived from clinical tests. Methods: We performed a comprehensive search of PubMed, Cochrane, CINAHL and EMBASE databases using various combinations of the keywords “Rotator cuff”, “Scapula”, “Scapular Dyskinesis”, “Shoulder”, “Biomechanics” and “Arthroscopy”. Results: SD incidence is growing in patients with shoulder pathologies, even if it is not a specific injury or directly related to a particular injury. SD can be caused by multiple factors or can be the trigger of shoulder-degenerative pathologies. In both cases, SD results in a protracted scapula with the arm at rest or in motion. Conclusions: A clinical evaluation of altered shoulder kinematics is still complicated. Limitations in observing scapular motion are mainly related to the anatomical position and function of the scapula itself and the absence of a tool for quantitative SD clinical assessment. High-quality clinical trials are needed to establish whether there is a possible correlation between SD patterns and the specific findings of shoulder pathologies with altered scapular kinematics