Dataset Information

Genetic factors in rotator cuff pathology: potential influence of col 5A1 polymorphism in outcomes of rotator cuff repair.

ABSTRACT: BACKGROUND:Investigations in genetics have provided valuable information about the correlation between gene variants and tendinopathy. Single Nucleotide Polymorphisms of COL5A1 gene are reported to be involved in Achilles tendinopathy, chronic degenerative tendon changes at the elbow, and other tendinopathies. The influence of Single Nucleotide Polymorphisms of COL5A1 was previously analyzed in rotator cuff disease with confounding results. Moreover, the rs12722 polymorphism in COL5A1 gene has been implicated in the aetiology of musculoskeletal soft tissue injuries in several association studies. This study aims to analyse the possible influence of rs12722 polymorphism in COL5A1 in the outcomes of rotator cuff repair. METHODS:Seventy-nine patients were included in the study. DNA was extracted from 1.2?ml of venous blood and genotyped for COL5A1 SNPs rs12722. Rotator cuff muscle strength and range of motion (ROM) in anterior elevation, external and internal rotation of the shoulder were evaluated. RESULTS:Patients presenting COL5A1 SNP rs12722 CC showed a ROM of passive external rotation statistically significantly higher compared to patients with CT genotype and TT genotype. CONCLUSIONS:COL5A1 SNP rs12722 may influence the functional outcomes of RCRs, even though further studies are required to confirm these preliminary results.

SUBMITTER: Petrillo S

PROVIDER: S-EPMC7165385 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Genetic factors in rotator cuff pathology: potential influence of col 5A1 polymorphism in outcomes of rotator cuff repair.

Petrillo Stefano S Longo Umile Giuseppe UG Margiotti Katia K Candela Vincenzo V Fusilli Caterina C Rizzello Giacomo G De Luca Alessandro A Denaro Vincenzo V

BMC medical genetics 20200417 1

<h4>Background</h4>Investigations in genetics have provided valuable information about the correlation between gene variants and tendinopathy. Single Nucleotide Polymorphisms of COL5A1 gene are reported to be involved in Achilles tendinopathy, chronic degenerative tendon changes at the elbow, and other tendinopathies. The influence of Single Nucleotide Polymorphisms of COL5A1 was previously analyzed in rotator cuff disease with confounding results. Moreover, the rs12722 polymorphism in COL5A1 ge ...[more]

PMID: 32303186

Similar Datasets

Project description:Purpose To compare patient-reported and surgical outcome measures in patients with and without secondary shoulder stiffness (SSS) undergoing rotator cuff repair (RCR). Methods Patients undergoing rotator cuff repair from 2014 to 2020 with complete patient-reported outcome measures (PROMs) by the short-form 12 survey (SF-12) were retrospectively reviewed to identify if operative intervention for SSS was performed alongside the RCR. Those patients with operative intervention for SSS were propensity matched to a group without prior intervention for stiffness by age, sex, laterality, body mass index, diabetes mellitus status, and the presence of a thyroid disorder. The groups were compared by rotator cuff tear (RCT) size, surgical outcomes, further surgical intervention, rotator cuff retear rate, postoperative range of motion (ROM), and SF-12 results at 1 year after surgery. Delta values were calculated for component scores of the SF-12 and ROM values by subtracting the preoperative result from the postoperative result. Results A total of 89 patients with SSS were compared to 156 patients in the control group at final analysis. The patients in the SSS group experienced a significant improvement in the delta mental health component score (MCS-12) of the SF-12 survey that was not seen in the control group (P = .005 to P = .539). Both groups experienced significant improvement by the delta physical health component score (PCS-12) of the SF-12 survey (SSS: 7.68; P < .001; control: 6.95; P < .001). The SSS group also experienced greater improvement of their forward flexion (25.8° vs 12.9°; P = .005) and external rotation (7.13° vs 1.65°; P = .031) ROM than the control group. Conclusions Operative intervention of SSS at the time of RCR has equivalent postoperative SF-12 survey outcome scores when compared to patients undergoing RCR without preoperative stiffness despite those patients having lower preoperative scores. Level of Evidence Level III retrospective comparative study.

Project description:PurposeTo determine whether patients who require margin convergence would have equivalent postsurgical patient-determined scores compared with patients with standard rotator cuff repair. The secondary purpose of this study was to determine whether the short-term results found for patients with margin convergence repairs would be durable through medium-term follow-up.MethodsA retrospective analysis of patients undergoing arthroscopic rotator cuff repair was performed to examine the effects of marginal convergence on patient-determined outcomes (Western Ontario Rotator Cuff Index, American Shoulder and Elbow Surgeons score, Simple Shoulder Test, Single Assessment Numeric Evaluation, and Shoulder Activity Level). Patient-determined outcomes in patients who had margin convergence repairs were compared with patients who had standard rotator cuff repair. Prospective follow-up of patients that had margin convergence repairs was performed to determine whether patient-determined outcomes deteriorated over time.ResultsTwo-hundred-seventy-two patients had standard rotator cuff repairs and 9 patients had margin convergence rotator cuff repair (3.2%). All patients had significant improvements in their Western Ontario Rotator Cuff Index, American Shoulder and Elbow Surgeons score, Simple Shoulder Test, and Single Assessment Numeric Evaluation. Patients requiring margin convergence rotator cuff repair had similar preoperative and postoperative scores compared with patients with a standard rotator cuff repair. At a mean follow-up of 7.5 years, there was no change in outcome scores compared with the early follow-up time point (mean 3.3 years) for patients undergoing margin convergence.ConclusionsArthroscopic margin convergence repair techniques along with the treatment of concomitant pathologies result in similar patient-determined outcomes compared with standard rotator cuff repair techniques. These results appear to be durable and do not deteriorate from short-term to medium-term follow-up.Level of evidenceIII: Retrospective comparative study.

Project description:PurposeTo determine the effect of travel distance on achieving the minimal clinically important difference (MCID) on patient-reported outcome measures (PROMs) at least 1 year after arthroscopic rotator cuff repair (RCR).MethodsPatients undergoing primary arthroscopic RCR with a minimum 1-year follow-up at a high-volume tertiary referral center between May 2017 and June 2019 were retrospectively reviewed. Patients were divided into two groups: driving distance of >50 miles from the institution (referral group) and <50 miles (local group). American Shoulder and Elbow Score (ASES), Single Assessment Numeric Evaluation (SANE) score and Constant score at minimum 1-year follow-up were assessed. Chi-square analysis was used to analyze achievement of MCID on any PROM. Subgroup analysis by tear complexity (1 tendon vs. >2 tendons torn) was conducted. Logistic regression was performed to determine whether travel distance and other variables of interest had an effect on achieving MCID.ResultsOf 996 patients reviewed, 385 patients (38.7%) had minimum 1-year follow-up. Of these, 62 (16%) traveled >50 miles to their orthopedic provider, and 212 (55%) had a complex tear. MCID for at least one PROM was reached by 305 (94%) patients in the local group and 56 (90%) patients in the referral group. There was no significant difference between groups in reaching MCID for any PROM. Subgroup analysis by tear complexity revealed no significant difference in preoperative PROMs or achieving MCID postoperatively between referral groups. There was no significant difference between groups when controlling for age, sex, adjusted gross income (AGI), primary health insurance, tear chronicity, and tear complexity.ConclusionsWhen controlling for age, sex, AGI, primary health insurance, tear chronicity, and tear complexity, distance to a high-volume shoulder arthroscopy surgery center did not have an effect on achieving the MCID for any PROM at least 1 year after arthroscopic RCR.Level of evidenceLevel III, retrospective cohort study.

Dataset Information

Genetic factors in rotator cuff pathology: potential influence of col 5A1 polymorphism in outcomes of rotator cuff repair.

Publications

Genetic factors in rotator cuff pathology: potential influence of col 5A1 polymorphism in outcomes of rotator cuff repair.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets