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Genetic basis of rotator cuff injury: a systematic review.

ABSTRACT: BACKGROUND:Rotator cuff disease is a widespread musculoskeletal pathology and a major cause of shoulder pain. Studies on familial predisposition suggest that genetic plays a role in the pathogenesis of rotator cuff disease. Several genes are responsible for rotator cuff disease. The aim of this study was to perform a systematic review on genetic association between rotator cuff disease and genes variations. METHODS:A systematic review of the literature was performed, in accordance with the PRISMA guidelines. PubMed, Medline, CINAHL, Cochrane, Embase and Google Scholar databases were searched comprehensively using the keywords: "Rotator cuff", "Gene", "Genetic", "Predisposition", "Single-nucleotide polymorphism" and "Genome-wide association". RESULTS:8 studies investigating genes variations associated with rotator cuff tears were included in this review. 6 studies were case-control studies on candidate genes and 2 studies were GWASs. A significant association between SNPs and rotator cuff disease was found for DEFB1, FGFR1, FGFR3, ESRRB, FGF10, MMP-1, TNC, FCRL3, SASH1, SAP30BP, rs71404070 located next to cadherin8. Contradictory results were reported for MMP-3. CONCLUSION:Further investigations are warranted to identify complete genetic profiles of rotator cuff disease and to clarify the complex interaction between genes, encoded proteins and environment. This may lead to individualized strategies for prevention and treatment of rotator cuff disease. LEVEL OF EVIDENCE:Level IV, Systematic Review.

SUBMITTER: Longo UG

PROVIDER: S-EPMC6720871 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature

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Genetic basis of rotator cuff injury: a systematic review.

Longo Umile Giuseppe UG Candela Vincenzo V Berton Alessandra A Salvatore Giuseppe G Guarnieri Andrea A DeAngelis Joseph J Nazarian Ara A Denaro Vincenzo V

BMC medical genetics 20190902 1

<h4>Background</h4>Rotator cuff disease is a widespread musculoskeletal pathology and a major cause of shoulder pain. Studies on familial predisposition suggest that genetic plays a role in the pathogenesis of rotator cuff disease. Several genes are responsible for rotator cuff disease. The aim of this study was to perform a systematic review on genetic association between rotator cuff disease and genes variations.<h4>Methods</h4>A systematic review of the literature was performed, in accordance ...[more]

PMID: 31477042

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Project description:BackgroundRotator cuff retear (RCR) is one of the main postoperative drawbacks. RCR can be considered a multifactorial issue, which causes are related either to biological than biomechanical factors. The aim of this study was to define the incidence of RCR after surgical treatment at different time points and to identify the main factors influencing the postoperative rotator cuff (RC) healing.MethodsA systematic review and meta-analysis were performed following the PRISMA guidelines. A comprehensive search of the literature was carried out in July 2020, using PubMed and Cochrane Library databases. Only level 1 and 2 clinical evidence studies were included. Studies were included if patients with preoperative repairable full-thickness RC tears were treated surgically, and if studies reported postoperative RCR confirmed by imaging diagnostic. The association between timing of retear and follow-up time points were investigated using an inverse-variance method of pooling data. A subgroup meta-analysis was performed using the DerSimonian and Laird method for the estimation of the between-study variance, i.e., τ2. The association between retear rate after surgery and patients' age, preoperative tear size, fatty infiltration, postoperative rehabilitation protocol, surgical techniques, and RC repairs was determined by expressing the effect measure in terms of odds ratio (OR) with 95% confidence interval (CI). The Mantel-Haenszel method with 95% CIs was used.ResultsThirty-one articles were included in this study. The percentage of RCR after surgery was 15% at 3 months follow-up, 21% at 3-6 months follow-up, 16% at 6-12 months follow-up, 21% at 12-24 months follow-up, 16% at follow-up longer than 24 months. The main factors influencing RC healing are both patient-related (i.e., age, larger tear size, fatty infiltration) and not patient-related (i.e., postoperative rehabilitation protocol, surgical techniques, and procedures).ConclusionsPostoperative RC healing is influenced by patient-related and non-patient-related factors. Further high-level clinical studies are needed to provide highly relevant clinical results.

Project description:IntroductionBone marrow-stimulating (BMS) techniques during arthroscopic rotator cuff repair surgery theoretically enhance the biological component for healing and hence improve tendon healing, but their efficacy remains unproven. The purpose of this review is to determine the effects and associated harms of BMS in arthroscopic rotator cuff repair surgery.Methods and analysisWe will perform a systematic review and meta-analysis of randomised-controlled trials (RCTs) and retrospective cohort studies (RCS) that compare outcomes following BMS use against no use of BMS during arthroscopic rotator cuff repair surgery. We will search the databases including the Cochrane Central Register of Controlled Trials, Medline and Embase, and clinical trial registries for relevant studies. We will include studies published from start of indexing until 23 August 2018. Two reviewers will independently assess the eligibility for studies. For each included trial, we will conduct duplicate independent data extraction and risk of bias assessment. We will use the Cochrane Collaboration tool to assess the risk of bias of included RCTs, while we will use the Risk Of Bias In Non-randomised Studies - of Interventions tool to evaluate the risk of bias of RCS. We will perform a random-effects meta-analysis in calculating the pooled risk estimates when appropriate. We will assess the overall quality of the data for each individual outcome using the Grading of Recommendations, Assessments, Development and Evaluation approach. The primary outcomes are tendon healing rate, overall pain and shoulder functions. The secondary outcomes are the proportion of participants with adverse events related to interventions, the range of motion and the proportion of participants with return to previous activities.Ethics and disseminationWe will report this review according to the guidance of the PRISMA statement. The results of this review will be disseminated through conference presentations and publications in peer-reviewed journals.Prospero registration numberCRD42018087161.

Project description:Tendon-to-bone healing after rotator cuff repair surgery has a failure rate of 20%-94%. There has been a recent interest to determine the factors that act as determinants between successful and unsuccessful rotator cuff repair. Vitamin D level in patients is one of the factors that have been linked to bone and muscle proliferation and healing, and it may have an effect on tendon-to-bone healing. The purpose of this article is to critically review relevant published research that relates to the effect of vitamin D on rotator cuff tears and subsequent healing. A review of the literature was conducted to identify all studies that investigate the relationship between vitamin D and tendon healing, in addition to its mechanism of action. The data were then analyzed in order to summarize what is currently known about vitamin D, rotator cuff pathology, and tendon-to-bone healing. The activated metabolite of vitamin D, 1?,25-dihydroxyvitamin D3, affects osteoblast proliferation and differentiation. Likewise, vitamin D plays a significant role in the tendon-to-bone healing process by increasing the bone mineral density and strengthening the skeletal muscles. The 1?,25-dihydroxyvitamin D3 binds to vitamin D receptors on myocytes to stimulate growth and proliferation. The form of vitamin D produced by the liver, calcifediol, is a key initiator of the myocyte healing process by moving phosphate into myocytes, which improves function and metabolism. Investigation into the effect of vitamin D on tendons has been sparse, but limited studies have been promising. Matrix metalloproteinases play an active role in remodeling the extracellular matrix (ECM) of tendons, particularly deleterious remodeling of the collagen fibers. Also, the levels of transforming growth factor-?3 positively influence the success of the surgery for rotator cuff repair. In the tendon-to-bone healing process, vitamin D has been shown to successfully influence bone and muscle healing, but more research is needed to delve into the mechanisms of vitamin D as a factor in skeletal tendon health and healing.

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Genetic basis of rotator cuff injury: a systematic review.

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Genetic basis of rotator cuff injury: a systematic review.

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