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Genetic and familial predisposition to rotator cuff disease: a systematic review.

ABSTRACT: Rotator cuff disease is a common disorder leading to shoulder pain and loss of function. Its etiology in atraumatic cases is uncertain and is likely to extend beyond repetitive microtrauma or overuse. Our objective was to determine whether there is a genetic or familial predisposition to rotator cuff disease.A literature search of PubMed and Embase databases identified 251 citations. After review of the titles, abstracts, and full articles, 7 met our inclusion and exclusion criteria.Four studies assessed familial predisposition to rotator cuff disease. One of these demonstrated that siblings of an individual with a rotator cuff tear were more likely to develop a full-thickness tear and more likely to be symptomatic. A 5-year follow-up showed that the relative risks were increased for the siblings to have a full-thickness tear, for a tear to progress in size, and for being symptomatic. Another study demonstrated that a significantly higher number of individuals with tears had family members with a history of tears or surgery than those without tears did. The other 3 studies investigated whether a genetic predisposition to rotator cuff disease exists and found significant association of haplotypes in DEFB1, FGFR1, FGF3, ESRRB, and FGF10 and 2 single-nucleotide polymorphisms within SAP30BP and SASH1.Prior studies provide preliminary evidence for genetic and familial predisposition to rotator cuff disease. However, there is a lack of large genome-wide studies that can provide more definitive information and guide early detection of individuals at risk, prophylactic rehabilitation, and potential gene therapies and regenerative medicine interventions.

SUBMITTER: Dabija DI

PROVIDER: S-EPMC5438768 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature

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Genetic and familial predisposition to rotator cuff disease: a systematic review.

Dabija Dominique I DI Gao Chan C Edwards Todd L TL Kuhn John E JE Jain Nitin B NB

Journal of shoulder and elbow surgery 20170202 6

<h4>Background</h4>Rotator cuff disease is a common disorder leading to shoulder pain and loss of function. Its etiology in atraumatic cases is uncertain and is likely to extend beyond repetitive microtrauma or overuse. Our objective was to determine whether there is a genetic or familial predisposition to rotator cuff disease.<h4>Methods</h4>A literature search of PubMed and Embase databases identified 251 citations. After review of the titles, abstracts, and full articles, 7 met our inclusion ...[more]

PMID: 28162885

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Project description:BackgroundRotator cuff disease (RCD) consists of subacromial impingement syndrome, rotator cuff tendinopathy or tendinitis, partial or full rotator cuff tear, calcific tendinitis, and subacromial bursitis. Acupuncture has been suggested as a meaningful nonsurgical intervention for managing shoulder pain and dysfunction. However, previous reviews have not completely addressed the role of acupuncture in the management of RCDs. The objective of this systematic review is to evaluate the effectiveness and safety of acupuncture for managing symptoms in patients with RCD.MethodsWe will search the following databases from their inception to November 30, 2019: MEDLINE, EMBASE, Cochrane Central Register of Controlled Trials (CENTRAL), Cumulative Index to Nursing and Allied Health Literature (CINAHL), Allied and Complementary Medicine (AMED), Physiotherapy Evidence Database (PEDro), 3 Chinese databases (China Academic Journal Full-text Database (CAJ), China Doctoral Dissertations Full-text database and China Masters' Thesis Full-text Database), 6 Korean databases (Korean studies Information Service System (KISS), National Digital Science Library (NDSL), Research Information Sharing Service (RISS), Korean Medical Database (KMBASE), Korea Institute of Science and Technology Information (KISTI), Oriental Medicine Advanced Searching Integrated System (OASIS)), and 3 trial registries (ClinicalTrials.gov, International Standard Randomized Controlled Trials Number (ISRCTN) Registry, WHO International Clinical Trials Registry Platform (ICTRP)). We will include randomized controlled trials of acupuncture for RCD. There will be no restrictions related to setting or location. The primary outcome is pain intensity and shoulder dysfunction measured on validated scales within 12 weeks. Quality assessment will be performed using the Cochrane risk of bias tool. Dichotomous outcomes will be presented as risk ratios (RR), and continuous outcomes will be presented as weighted or standardized mean differences (SMD). Each outcome will be calculated with 95% confidence intervals.DiscussionThe updated evidence that would be provided by this review will offer useful information for patients and practitioners, and also have implications for future studies and the development of clinical practice guidelines of RCD.Registration: Open Science Framework (OSF) Preregistration. 2019, December 5. osf.io/n2e6t.

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.

Dataset Information

Genetic and familial predisposition to rotator cuff disease: a systematic review.

Publications

Genetic and familial predisposition to rotator cuff disease: a systematic review.

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