Gene Expression in Torn Rotator Cuff Tendons Determined by RNA Sequencing.

BACKGROUND: Although the cause of rotator cuff tearing is likely multifactorial and a genetic predisposition has been proposed, the biochemical basis remains unknown. PURPOSE: To determine gene expression profiles in torn rotator cuff tendon tissue through use of RNA sequencing. STUDY DESIGN: Controlled laboratory study. METHODS: The supraspinatus tendon edge was biopsied in 24 patients undergoing arthroscopic rotator cuff repair for full-thickness supraspinatus rotator cuff tears. The supraspinatus tendon was also biopsied in 9 patients undergoing open reduction and internal fixation for a proximal humeral fracture (controls). Total RNA was extracted and sequenced. Differential gene expression was analyzed between the tear and control groups, and a secondary analysis was conducted between groups defined by an unbiased clustering. RESULTS: Tear and control transcriptomes demonstrated significant differential expression in more than 3000 genes. The identified differential genes were highlighted in pathways involved in inflammation in control patients and extracellular matrix generation in patients with tears. Secondary analysis using unsupervised and thus unbiased hierarchical clustering revealed 2 clusters (c2 and c3). Cluster c3 contained smaller (P < .001) and less retracted (P = .018) tears (ie, tears earlier in the progression of rotator cuff disease) with increased expression of hypoxia target genes. Cluster c2 contained larger, more retracted tears (ie, tears further in the progression of rotator cuff disease) with increased expression of endothelial cell markers and chronic inflammation target genes. Tears in c2 had significantly worse healing rates compared with tears in c3 (0% vs 89%; P = .007). CONCLUSION: Smaller, less retracted tears had increased expression of hypoxia target genes and improved healing, whereas larger, more retracted tears were associated with endothelial cell markers and worse healing. Thus, hypoxia may be the inciting event for tear development, whereas with tear enlargement, a chronic, inflammatory, angiogenic process may predominate. CLINICAL RELEVANCE: Identification of differential gene expression in rotator cuff tears may be a reliable tool to predict repair healing in the future.

Reverse total shoulder arthroplasty and resting radiographic scapular rotation.

BACKGROUND: It remains unclear whether changes in scapular rotation influence the surgeon's ability to achieve resting radiographic neutral or inferior baseplate tilt at final follow-up. The purposes of this study were (1) to determine whether reverse total shoulder arthroplasty (RTSA) changes the resting scapular rotation, (2) to determine the association between glenoid inclination with respect to the scapula (ß angle) and resting scapular rotation, and (3) to determine the ß angle threshold that will most likely lead to resting radiographic neutral or inferior baseplate tilt relative to the thorax. METHODS: This was a retrospective radiographic study. Patients with adequate-quality standing anteroposterior and Grashey radiographs obtained preoperatively and after primary RTSA at a minimum of 1 year were included. Glenoid inclination (ß angle) was measured between the supraspinatus fossa and the glenoid. Resting scapular rotation was measured between the supraspinatus fossa and a vertical line. Baseplate tilt was then calculated as the angle between the glenoid and a vertical line. RESULTS: The study included 74 patients with a mean follow-up period of 3 years (range, 1-9 years). Scapular rotation changed 2° ± 12° (mean ± standard deviation) into upward rotation (P = .048). No association was found between the ß angle and scapular rotation. In 71% of patients with a neutral or inferior baseplate tilt, a postoperative ß angle greater than 85° was found. CONCLUSIONS: Resting radiographic scapular rotation changed 2° into upward rotation with RTSA and was not associated with the ß angle. If the ß angle is greater than 85°, resting radiographic baseplate tilt will most likely be inferior or neutral.

Healing Rates and Functional Outcomes After Triple-Loaded Single-Row Versus Transosseous-Equivalent Double-Row Rotator Cuff Tendon Repair.

BACKGROUND: Although healing rates and outcomes of arthroscopic single-row rotator cuff repairs have been compared with double-row repairs, none have utilized triple-loaded anchors. PURPOSE: To compare healing and function after single-row repairs with triple-loaded anchors versus double-row repairs with a suture-bridge technique. STUDY DESIGN: Cohort study; Level of evidence, 3. METHODS: A single surgeon performed arthroscopic rotator cuff repair on 47 consecutive patients with an easily reducible full-thickness rotator cuff tear of medium size (1-3 cm). A retrospective cohort study was performed in which the first 25 patients underwent repair with a double-row suture-bridge (DRSB) technique. The next 22 patients underwent repair with a single-row technique with triple-loaded anchors and simple stitches (SRTL) after a change in technique by the surgeon. Twenty-one DRSB and 18 SRTL repairs were evaluated preoperatively and at a minimum of 12 months postoperatively with a visual analog scale for pain, the American Shoulder and Elbow Surgeons form, and the Simple Shoulder Test. Healing was evaluated with magnetic resonance imaging at a minimum of 12 months. RESULTS: When DRSB repairs were compared with SRTL repairs, there were no significant differences in patient age (61 vs 65 years), tear size (2.3 vs 2.1 in the sagittal plane; 2.0 vs 1.8 cm in the coronal plane), Goutallier fatty infiltration (supraspinatus grade: stage 0, 38%; stage 1, 38%; stage 2, 19%; stage 3, 5%; vs stage 0, 56%; stage 1, 39%; stage 2, 5%; stage 3, 0%), tendon healing (71% vs 78%), improvement in visual analog scale pain score (3.7 vs 3.2), or improvement in American Shoulder and Elbow Surgeons scores (34.6 vs 36.9), with P > .05 in all cases. SRTL repairs had significantly greater improvement in Simple Shoulder Test scores versus DRSB repairs (6.6 vs 4.5; P = .03). CONCLUSION: DRSB and SRTL repairs have similar improvements in pain and function with equivalent healing rates for arthroscopic repair of mobile full-thickness rotator cuff tears of medium size (1-3 cm).

Superior Baseplate Inclination Is Associated With Instability After Reverse Total Shoulder Arthroplasty.

BACKGROUND: Instability is the most common complication after reverse total shoulder arthroplasty (rTSA). In the native glenohumeral joint, in addition to full dislocations, more subtle forms of instability exist. However, the incidence of more subtle forms of instability, the factors associated with instability, and the effect of instability on validated outcome scores after rTSA remain poorly understood. QUESTIONS/PURPOSES: (1) After rTSA, what is the risk of instability, including more subtle forms of subjective instability? (2) What are the factors associated with instability? (3) Are more subtle forms of instability associated with lower American Shoulder and Elbow Surgeons (ASES) functional outcome scores than those patients without instability? METHODS: A total of 168 rTSAs were performed during the study period. Six patients had died at the time of study initiation. Thirty patients were excluded, nine because rTSA was performed for an acute proximal humeral fracture, one because a lateralized humeral component was used, 17 because a retaining liner was used, and three because a lateralized glenosphere was used. One hundred thirty-two patients met inclusion and exclusion criteria. Thirty-five patients were lost to followup. Thus, 97 patients with a minimum of 2 years followup were included in the final cohort (74% of included patients). Followup was 47 ± 22 months (mean ± SD). The cohort included 23 men and 74 women with an age of 70 ± 9 years who underwent 78 primary and 19 revision rTSAs. Primary and revision patients were combined for subsequent analyses. A postoperative questionnaire was used to assess instability symptoms. Although it has not been validated, it is simple and we believe has high face validity. Briefly, it scored instability as (1) none; (2) feelings of instability; (3) probable dislocation/subluxation-self-reduced; and (4) dislocation with surgical reduction or dislocation with closed reduction (such as in the emergency department or the doctor's office). ASES scores were collected specifically for this study. The preoperative and postoperative ß angle was measured to determine glenoid inclination. Larger ß angles denote more superior inclination, whereas smaller ß angles denote more inferior inclination. Thus, a positive change in ß angle from preoperatively to postoperatively denotes a change into more superior inclination, whereas a negative change in ß angle from preoperatively to postoperatively denotes a change into more inferior inclination. Associations between instability symptoms and patient, implant, and surgical factors were evaluated in a multivariate model that considered age, sex, body mass index, and whether it was a primary or a revision procedure. RESULTS: A total of 13 of 97 (13%) patients reported some instability (Grades 2-4); four of 97 patients (4%) had full dislocations with reduction (Grade 4), four of 97 patients (4%) reported subluxations (Grade 3), and five of 97 patients (5%) reported feelings of instability or apprehension (Grade 2). After controlling for potential confounding variables like age, sex, body mass index, and revision versus primary procedure, the only factors associated with instability were greater superior baseplate inclination (larger ß angle; odds ratio [OR], 1.15 [95% confidence interval {CI}, 1.042-1.258]; p = 0.005) and a greater change into superior inclination from preoperative to postoperative (greater positive change in ß angle; OR, 1.08 [1.009-1.165]; p = 0.027). Patients with any instability (Grades 2-4) reported lower final ASES scores than did patients without instability (Grade 1) (61 ± 16 versus 72 ± 19 mean difference 11 [95% CI, 0-22]; p = 0.032). CONCLUSIONS: When more subtle instability after rTSA is included, instability may occur in up to 13% of patients. Instability is associated with greater superior baseplate inclination and less inferior correction of the ß angle and thus surgeons should consider inferiorly inclining the baseplate to avoid postoperative instability. Although our study only demonstrates an association and not causation, the authors hypothesize that superior baseplate inclination increases inferior impingement, which leads to instability. Instability negatively influences final ASES score. LEVEL OF EVIDENCE: Level III, therapeutic study.

Functional and Radiographic Outcomes After Allograft Anatomic Coracoclavicular Ligament Reconstruction.

OBJECTIVES: To analyze the functional and radiographic outcomes of anatomic coracoclavicular ligament reconstruction (ACCR) using allograft tendon without interference screw fixation. DESIGN: Retrospective nonrandomized study. SETTING: Level I trauma center (University Hospital). PATIENTS: Seventeen patients (mean age of 44 years) with Rockwood III through V acromioclavicular joint disruptions. Twelve of 17 patients had a primary reconstruction, including 4 patients sustaining their injuries as part of a polytrauma incident. Five of 17 patients were revisions of a previously failed acromioclavicular reconstruction procedure. INTERVENTION: Open ACCR using hamstring allograft with high-strength suture augmentation and knotted graft fixation without interference screws. MAIN OUTCOME MEASURES: Clinical and patient reported outcome measures including Simple Shoulder Test, American Shoulder and Elbow Surgeons scores, and visual analog scale scores for pain and radiographic outcomes. RESULTS: The average final postoperative Simple Shoulder Test and American Shoulder and Elbow Surgeons scores were 10.8 and 80.5, respectively. The average final postoperative visual analog scale pain was 1.8. All patients demonstrated clavicle tunnel widening on final postoperative radiographs compared with immediate postoperative radiographs. The overall complication rate was 36%, with no clavicle or coracoid fractures. CONCLUSIONS: Open ACCR using hamstring allograft tendon secured with a square knot and high-strength suture augmentation yields equivalent outcomes to those repairs requiring an additional interference screw. Clavicle tunnel widening predictably occurs, but the clinical significance is undetermined. It appears therefore that an interference screw is not needed. Larger comparison studies are needed. LEVEL OF EVIDENCE: Therapeutic Level IV. See Instructions for Authors for a complete description of levels of evidence.

Does prosthetic humeral articular surface positioning associate with outcome after total shoulder arthroplasty?

BACKGROUND: The purpose of this study was to determine the effect of humeral articular component positioning on changes in patient-reported outcomes after anatomic total shoulder arthroplasty. METHODS: This was a retrospective series of consecutive patients at 2 high-volume referral centers. The study included patients with (1) a preoperative and postoperative radiograph demonstrating a perfect or nearly perfect profile of the humerus and implant and (2) Simple Shoulder Test, visual analog scale for pain, and American Society of Shoulder and Elbow Surgeons (ASES) Standardized Shoulder Assessment scores preoperatively and at greater than 2 years postoperatively. Head height, head diameter, tuberosity-to-head height distance, inclination, and medial offset of the center of rotation (COR) were measured preoperatively and postoperatively. Distance and direction from the ideal COR to the reconstructed center of rotation was measured. Measurements were correlated with improvement in functional outcomes. RESULTS: The study included 95 patients, aged 66 ± 9 years, with a mean follow-up of 4.3 ± 1.7 years. An a priori power analysis suggested that a sample size of 95 patients provided 80% power to detect correlations of R2 = 0.07. The COR shift was >2 mm in 62% of patients and >4 mm 15%. Thirty-two percent had a change of ASES of <21 points. On multivariate analysis, there were no significant associations between any change in measured prosthetic radiographic parameters and changes in the visual analog scale, Simple Shoulder Test, or ASES scores (P > .05). CONCLUSION: In this retrospective analysis of total shoulder arthroplasty in which most components were well positioned, humeral component positioning did not associate with change in postoperative outcomes. These findings should be prospectively confirmed.

Psychometrics of the Patient-Reported Outcomes Measurement Information System Physical Function instrument administered by computerized adaptive testing and the Disabilities of Arm, Shoulder and Hand in the orthopedic elbow patient population.

BACKGROUND: This study evaluated the psychometric properties of the Patient-Reported Outcomes Measurement Information System (PROMIS) Physical Function (PF) instrument administered through computerized adaptive testing (CAT) compared with the traditional full-length Disabilities of the Arm, Shoulder and Hand (DASH). METHODS: The PROMIS PF CAT and the DASH were administered to 1759 patients seeking care for elbow conditions. This study used Rasch partial credit modeling to analyze the instruments with item fit, internal reliability, response category thresholds, dimensionality, local independence, gender differential item functioning, and floor and ceiling effects. RESULTS: The PROMIS PF CAT and DASH had satisfactory item fit for all but 1 item on both measures. Internal reliabilities were high for both measures. Two items on the DASH and 4 items on the PF CAT showed nonordered category thresholds. Unidimensionality was adequate, and local independence was supported for both instruments. Gender bias was found for 4 items on the PF CAT and 12 items on the DASH. Both measures had adequate instrument targeting and satisfactory floor and ceiling effects. CONCLUSION: The PROMIS PF CAT and the DASH both showed sufficient unidimensionality, good item fit, and good local independence with the exception of high levels of gender item bias, particularly for the DASH. Further scale evaluation should address item bias and item response categories for these instruments. Overall, the PROMIS PF CAT is an effective outcome instrument to measure function in patients with elbow disorders that requires significantly fewer questions than the DASH.

A Comprehensive Evaluation of Factors Affecting Healing, Range of Motion, Strength, and Patient-Reported Outcomes After Arthroscopic Rotator Cuff Repair.

BACKGROUND: Rotator cuff repair (RCR) leads to improved patient outcomes, which may or may not coincide with biological healing of the tendon. Many patient factors may play a role in subjective and objective patient outcomes of surgery. PURPOSE: To evaluate the effect of various patient factors and tendon healing on range of motion, strength, and functional outcomes after arthroscopic RCR. STUDY DESIGN: Case-control study; Level of evidence, 3. METHODS: We reviewed patients who underwent arthroscopic RCR. Postoperative endpoints included physical examination, repeat magnetic resonance imaging (MRI), and patient-reported outcome measures. The Short Form-36 (SF-36) was also completed at enrollment. Physical examination included range of motion and strength testing. Preoperative tear characteristics and postoperative healing on MRI were recorded. Associations between these characteristics and rotator cuff healing were determined. Multivariate models investigated factors affecting healing and final outcomes. RESULTS: A total of 81 patients had MRI before and a minimum of 1 year after RCR. Patient-reported outcomes were available for all patients at mean 2.7 years (range, 1-7.7 years) after RCR. Seventy-five patients had physical examination data. Patients were less likely to heal if they had tears involving multiple tendons (P = .037), tears >2.2 cm (P = .037), tears retracted >2.0 cm (P = .006), and tears with cumulative Goutallier grade ≥3 (P = .003). Patients who healed were stronger on manual muscle testing in forward elevation (P < .001) and external rotation (P = .005) and on forward elevation isometric testing (P = .033), and they reported better patient-reported outcomes (P ≤ .01) at final follow-up. In multivariate models, tendon healing was associated with less pain (P = .019) and better patient-reported outcomes (all P ≤ .006). Lower SF-36 mental component summary (MCS) score was associated with increased pain (P = .025) and lower final American Shoulder and Elbow Surgeons score (P = .035), independent of healing status. CONCLUSION: Larger, more retracted tears with greater fatty infiltration are less likely to heal per MRI. Patients who do not heal are weaker and have worse patient-reported outcome measures. Lower SF-36 MCS score was associated with poorer patient-reported outcomes independent of tendon healing.

Factors influencing direct clinical costs of outpatient arthroscopic rotator cuff repair surgery.

BACKGROUND: Very limited information exists about factors affecting direct clinical costs of rotator cuff repair surgery. The purpose of this study was to determine the direct cost of outpatient arthroscopic rotator cuff repair surgery using a unique value-driven outcomes tool and to identify patient- and treatment-related variables affecting cost. METHODS: Cost data were derived for arthroscopic rotator cuff repairs performed by 3 surgeons from March 2014 to June 2015 using the value-driven outcomes tool. Costs included overall total direct cost, which included facility utilization costs, medication costs, supply costs, and other ancillary costs. Univariate and multivariate regressions were performed to determine the effect of various patient-related and surgical-related factors on costs. RESULTS: There were 170 arthroscopic rotator cuff repairs performed during the study period. Multivariate analysis showed significant correlations between higher total direct cost and the presence of a subscapularis repair being performed (P = .015) and total number of anchors used (P < .0001). Higher body mass index, severe systemic illness, 1 of the 3 surgeons, biceps tenodesis using an anchor, and total sum of anchors were correlated with higher facility utilization costs (P < .04). Severe systemic illness, addition of a subscapularis repair, 1 of the 3 surgeons, and additional subacromial decompression were correlated with higher pharmacy costs (P < .006). The addition of a subscapularis repair, total sum of anchors, and severe muscle changes to the supraspinatus were correlated with higher supply costs (P < .015). CONCLUSIONS: From a direct cost perspective, implementation of strategies to reduce overall costs should focus on reducing overall anchor quantity or price.

Clinical and sonographic evaluation of subpectoral biceps tenodesis with a dual suture anchor technique demonstrates improved outcomes and a low failure rate at a minimum 2-year follow-up.

INTRODUCTION: The purpose of this study was to evaluate the clinical outcomes and integrity of an open subpectoral biceps tenodesis using a dual suture anchor construct. MATERIALS AND METHODS: Patients with at least 2 years of follow-up were retrospectively evaluated for simple shoulder test (SST), American Shoulder and Elbow Surgeons (ASES) score, and visual analog scales (VAS) for pain, function and satisfaction. A physical exam assessed shoulder range of motion and elbow strength. Ultrasonography visualized construct integrity. RESULTS: Of 43 eligible patients, 36 completed questionnaire evaluation and 22 completed an additional physical examination. Indications included superior labral anterior-posterior (SLAP) lesions (4), partial thickness tears (6), instability (6), and tenosynovitis of the biceps tendon (20). Eighteen patients (50%) had an associated rotator cuff tear. Patient-reported outcomes improved pre- vs postoperatively: ASES score (45.4 vs 78.6, P < 0.001), SST (5.1 vs 9.6, P < 0.001), pain-VAS (4.8 vs 2.0, P < 0.001), and function-VAS (4.9 vs 2.3, P < 0.001). Satisfaction-VAS was 8.3 postoperatively. Patient-reported outcomes did not differ for patients with an associated rotator cuff tear compared to those without (P ≥ 0.427). None of the physical exam measures were lower on the operative side compared to the healthy side (P ≥ 0.516). Sonographic evaluation revealed preserved integrity of the tenodesis construct in all cases. No complications were noted. CONCLUSIONS: Subpectoral biceps tenodesis utilizing a dual suture anchor technique is a treatment option for SLAP lesions, partial thickness tears, subluxation, and tenosynovitis of the long head of the biceps with high rates of postoperative patient satisfaction, a low failure rate, and improved outcome scores. The presence of a concomitant rotator cuff tear did not influence clinical outcomes.

Determining the minimal clinically important difference for the American Shoulder and Elbow Surgeons score, Simple Shoulder Test, and visual analog scale (VAS) measuring pain after shoulder arthroplasty.

BACKGROUND: Minimal clinically important differences (MCIDs) for the American Shoulder and Elbow Surgeons (ASES) score, the Simple Shoulder Test (SST), and a visual analog scale (VAS) measuring pain have not been previously described using an anchor-based method after shoulder arthroplasty. The purpose of this study was to determine the MCIDs for these measures after shoulder arthroplasty for glenohumeral arthritis or advanced rotator cuff disease. METHODS: Primary anatomic total shoulder arthroplasty (TSA), primary reverse TSA, or hemiarthroplasty was performed in 326 patients by 1 of 5 shoulder and elbow surgeons. The SST score, ASES score, and VAS pain score were collected preoperatively and at a minimum of 2 years postoperatively (mean, 3.5 years). The MCIDs were calculated for the ASES score, SST score, and VAS pain score using an anchor-based method. RESULTS: The MCIDs for the ASES score, SST score, and VAS pain score were 20.9 (P < .001), 2.4 (P < .0001), and 1.4 (P = .0158), respectively. Duration of follow-up and type of arthroplasty (anatomic TSA vs reverse TSA) did not have a significant effect on the MCIDs (P > .1) except shorter follow-up correlated with a larger MCID for the ASES score (P = .0081). Younger age correlated with larger MCIDs for all scores (P < .024). Female sex correlated with larger MCIDs for the VAS pain score (P = .123) and ASES score (P = .05). CONCLUSIONS: Patients treated with a shoulder arthroplasty require a 1.4-point improvement in the VAS pain score, a 2.4-point improvement in the SST score, and a 21-point improvement in the ASES score to achieve a minimal clinical importance difference from the procedure.

Utility of prerevision tissue biopsy sample to predict revision shoulder arthroplasty culture results in at-risk patients.

BACKGROUND: The diagnosis of infection after shoulder arthroplasty can be challenging. The current study evaluated the utility of a prerevision biopsy sample in predicting positive cultures or a final diagnosis of infection in the setting of an "at-risk" failed shoulder arthroplasty. METHODS: The study reviewed 77 patients with no history of infection undergoing revision shoulder arthroplasty by a single surgeon between June 2010 and July 2015. All patients with a C-reactive protein and erythrocyte sedimentation rate within normal reference ranges and no fluid on aspirate, or an abnormal value for the erythrocyte sedimentation rate or C-reactive protein, or both, and no growth on aspirate, underwent a prerevision biopsy because they were considered "at-risk" for infection. Sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were calculated to evaluate the utility of biopsy specimens to predict positive cultures as well as a final determination of infection. RESULTS: A prerevision biopsy was performed in 17 patients with a failed arthroplasty. The sensitivity, specificity, PPV, and NPV, for a positive prerevision biopsy sample to predict a positive final culture were 0.75, 0.6, 0.82, and 0.5, respectively. The sensitivity, specificity, PPV, and NPV for an infection defined by a prerevision biopsy sample to predict an infection defined by the combined final revision and biopsy cultures were 0.9, 0.86, 0.9, and 0.86, respectively. CONCLUSIONS: The ability for prerevision biopsy specimens of failed arthroplasties to predict the presence of bacteria at the time of revision surgery is high, although lower than previously reported. If biopsy results are used to define and predict a diagnosis of infection, the sensitivity, specificity, PPV, and NPV all significantly improve.

Incidence of and Risk Factors for Symptomatic Venous Thromboembolism After Shoulder Arthroplasty.

Reported rates of venous thromboembolism (VTE) after shoulder arthroplasty (SA) range from 0.2% to 13%. Few studies have evaluated the incidence of VTE in a large patient population from a single institution. We conducted a study to determine the incidence of VTE (deep venous thrombosis [DVT] and pulmonary embolism [PE]) in a large series of SAs. Cases of SAs performed at our institution between January 1999 and May 2012 were retrospectively reviewed for development of symptomatic VTE within the first 90 days after surgery. During the study period, 533 SAs (245 anatomical total SAs [TSAs], 112 reverse TSAs, 92 hemiarthroplasties, 84 revision SAs) were performed. Logistic regression analyses were used to evaluate the association of various risk factors with VTE. For the 533 SAs, the symptomatic VTE rate was 2.6% (14 patients), the DVT rate was 0.9% (5), and the PE rate was 2.3% (12). Risk factors significantly correlated with a thrombotic event included raised Charlson Comorbidity Index, preoperative thrombotic event, lower preoperative hemoglobin and hematocrit levels, diabetes, lower postoperative hemoglobin level, use of general endotracheal anesthesia without interscalene nerve block, higher body mass index, and revision SA (P < .05). Our rates of symptomatic VTE events (DVT, PE) after SA are relatively low, though they are higher than the rates in studies that have used large state or national databases. Risk factors associated with thrombosis can be useful in identifying patients at risk for clotting after SA.

Identification of a genetic variant associated with rotator cuff repair healing.

BACKGROUND: A familial and genetic predisposition for the development of rotator cuff tearing has been identified. The purpose of this study was to determine if a familial predisposition exists for healing after rotator cuff repair and if the reported significant association with a single-nucleotide polymorphism (SNP) in the ESRRB gene is present in patients who fail to heal. MATERIALS AND METHODS: The study recruited 72 patients undergoing arthroscopic rotator cuff repair for a full-thickness posterosuperior tear. Magnetic resonance imaging studies were performed at a minimum of 1 year postoperatively (average, 2.6 years). Healing failures were classified as lateral or medial. Self-reported family history of rotator cuff tearing data and genome-wide genotypes were available. Characteristics of cases with and without a family history of rotator cuff tearing were compared, and a comparison of the frequency of SNP 1758384 (in ESRRB) was performed between patients who healed and those who failed to heal. RESULTS: Of the rotator cuff repairs, 42% failed to heal; 42% of patients reported a family history of rotator cuff tear. Multivariate regression analysis showed a significant association between familiality and overall healing failure (medial and lateral failures) (P = .036) and lateral failures independently (P = .006). An increased risk for the presence of a rare allele for SNP rs17583842 was present in lateral failures compared with those that healed (P = .005). CONCLUSIONS: Individuals with a family history of rotator cuff tearing were more likely to have repair failures. Significant association of a SNP variant in the ESRRB gene was also observed with lateral failure.

Evidence for an Environmental and Inherited Predisposition Contributing to the Risk for Global Tendinopathies or Compression Neuropathies in Patients With Rotator Cuff Tears.

BACKGROUND: Rotator cuff tearing has been found to be clinically associated with other tendinopathies and compression neuropathies; a significant excess of these phenotypes has been seen in patients with rotator cuff tears. It is unclear if the association is secondary to environmental or genetic influences. PURPOSE: To examine population-based data for comorbid association of rotator cuff tearing and tendinopathies and compression neuropathies and to determine whether the association extends to relatives of patients with rotator cuff tears, which could suggest a genetic contribution. STUDY DESIGN: Cross-sectional study; Level of evidence, 3. METHODS: The Utah Population Database (UPDB) contains health and genealogical data on over 2 million Utah residents. Current Procedural Terminology, Fourth Revision, codes (CPT 4) and International Classification of Diseases, Ninth Revision, codes (ICD-9) entered in patient records were used to identify patients with rotator cuff tearing and with comorbid tendinopathies and compression neuropathies. We tested the hypothesis of excess familial clustering of these other phenotypes with rotator cuff tearing using a well-established method (estimation of relative risks) in the overall study group of rotator cuff patients (N = 1889). RESULTS: Significantly elevated risk for elbow, hand/wrist, foot/ankle, knee, and hip tendinopathies, as well as for all tendinopathies and compression neuropathies, was observed in rotator cuff tear cases themselves (P < 2.8e(-13)), in their spouses (P < .02), and in their first-degree relatives (P < 5.5e(-4)). A significant excess of elbow (P = .01), foot/ankle (P = .04), and all tendinopathies (P = 3.1e(-3)) was also observed in second-degree relatives, and a significant excess of compression neuropathies (P = .03) was observed in third-degree relatives. CONCLUSION: The current study shows strong evidence of familial clustering of rotator cuff tearing with other tendinopathies and with compression neuropathy. Observed increased risks in spouses and first-degree relatives supports shared environmental risk factors for rotator cuff tearing, most tendinopathies, and compression neuropathies. Increased risks to third-degree relatives for compression neuropathy suggest an association of these phenotypes that may have a shared genetic etiology.

Mental Health Has a Stronger Association with Patient-Reported Shoulder Pain and Function Than Tear Size in Patients with Full-Thickness Rotator Cuff Tears.

BACKGROUND: Patient-reported outcome measures have increasingly accompanied objective examination findings in the evaluation of orthopaedic interventions. Our objective was to determine whether a validated measure of mental health (Short Form-36 Mental Component Summary [SF-36 MCS]) or measures of tear severity on magnetic resonance imaging were more strongly associated with self-assessed shoulder pain and function in patients with symptomatic full-thickness rotator cuff tears. METHODS: One hundred and sixty-nine patients with full-thickness rotator cuff tears were prospectively enrolled. Patients completed the Short Form-36, visual analog scales for shoulder pain and function, the Simple Shoulder Test (SST), and the American Shoulder and Elbow Surgeons (ASES) instrument at the time of diagnosis. Shoulder magnetic resonance imaging examinations were reviewed to document the number of tendons involved, tear size, tendon retraction, and tear surface area. Age, sex, body mass index, number of medical comorbidities, smoking status, and Workers' Compensation status were recorded. Bivariate correlations and multivariate regression models were calculated to identify associations with baseline shoulder scores. RESULTS: The SF-36 MCS had the strongest correlation with the visual analog scale for shoulder pain (Pearson correlation coefficient, -0.48; p < 0.001), the visual analog scale for shoulder function (Pearson correlation coefficient, -0.33; p < 0.001), the SST (Pearson correlation coefficient, 0.37; p < 0.001), and the ASES score (Pearson correlation coefficient, 0.51; p < 0.001). Tear severity only correlated with the visual analog scale for shoulder function; the Pearson correlation coefficient was 0.19 for tear size (p = 0.018), 0.18 for tendon retraction (p = 0.025), 0.18 for tear area (p = 0.022), and 0.20 for the number of tendons involved (p = 0.011). Tear severity did not correlate with other scores in bivariate correlations (all p > 0.05). In all multivariate models, the SF-36 MCS had the strongest association with the visual analog scale for shoulder pain, the visual analog scale for shoulder function, the SST, and the ASES score (all p < 0.001). CONCLUSIONS: Patient mental health may play an influential role in patient-reported pain and function in patients with full-thickness rotator cuff tears. Further studies are needed to determine its effect on the outcome of the treatment of rotator cuff disease.

Genome-wide association study for rotator cuff tears identifies two significant single-nucleotide polymorphisms.

BACKGROUND: The precise etiology of rotator cuff disease is unknown, but prior evidence suggests a role for genetic factors. Limited data exist identifying specific genes associated with rotator cuff tearing. The purpose of this study was to identify specific genes or genetic variants associated with rotator cuff tearing by a genome-wide association study with an independent set of rotator cuff tear cases. MATERIALS AND METHODS: A set of 311 full-thickness rotator cuff tear cases genotyped on the Illumina 5M single-nucleotide polymorphism (SNP) platform were used in a genome-wide association study with 2641 genetically matched white population controls available from the Illumina iControls database. Tests of association were performed with GEMMA software at 257,558 SNPs that compose the intersection of Illumina SNP platforms and that passed general quality control metrics. SNPs were considered significant if P < 1.94 × 10(-7) (Bonferroni correction: 0.05/257,558). RESULTS: Tests of association revealed 2 significantly associated SNPs, one occurring in SAP30BP (rs820218; P = 3.8E-9) on chromosome 17q25 and another occurring in SASH1 (rs12527089; P = 1.9E-7) on chromosome 6q24. CONCLUSIONS: This study represents the first attempt to identify genetic factors influencing rotator cuff tearing by a genome-wide association study using a dense/complete set of SNPs. Two SNPs were significantly associated with rotator cuff tearing, residing in SAP30BP on chromosome 17 and SASH1 on chromosome 6. Both genes are associated with the cellular process of apoptosis. Identification of potential genes or genetic variants associated with rotator cuff tearing may help in identifying individuals at risk for the development of rotator cuff tearing.

Psychometric evaluation of the PROMIS Physical Function Computerized Adaptive Test in comparison to the American Shoulder and Elbow Surgeons score and Simple Shoulder Test in patients with rotator cuff disease.

BACKGROUND: The Patient-Reported Outcomes Measurement Information System (PROMIS) Physical Function Computerized Adaptive Test (PF CAT) is a newly developed patient-reported outcome instrument designed by the National Institutes of Health to measure generalized physical function. However, the measurement properties of the PF CAT have not been compared with established shoulder-specific patient-reported outcomes. METHODS: Patients with clinical diagnosis of rotator cuff disease completed the American Shoulder and Elbow Surgeons (ASES) score, Simple Shoulder Test (SST), and PF CAT. Responses to each of the 3 instruments were statistically analyzed with a Rasch partial credit model. Associations between instruments, convergent validity, item and person reliability, ceiling and floor effects, dimensionality, and survey length were determined. RESULTS: Responses from 187 patients were analyzed. The PF CAT required fewer questions than the ASES or SST (PF CAT, 4.3; ASES, 11; SST, 12). Correlation between all instruments was moderately high. Item reliability was excellent for all instruments, but person reliability of the PF CAT was superior (0.93, excellent) to the SST (0.71, moderate) and ASES (0.48, fair). Ceiling effects were similar among all instruments (PF CAT, 0.53%; SST, 6.1%; ASES, 2.3%). Floor effects were found in 21% of respondents to the SST but in only 3.2% of PF CAT and 2.3% of ASES respondents. CONCLUSION: The measurement properties of the PROMIS PF CAT compared favorably with the ASES and SST despite requiring fewer questions to complete. The PROMIS PF CAT had improved person reliability compared with the ASES score and fewer floor effects compared with the SST.

One-year Patient-reported Outcomes After Arthroscopic Rotator Cuff Repair Do Not Correlate With Mild to Moderate Psychological Distress.

BACKGROUND: Patients with shoulder and rotator cuff pathology who exhibit greater levels of psychological distress report inferior preoperative self-assessments of pain and function. In several other areas of orthopaedics, higher levels of distress correlate with a higher likelihood of persistent pain and disability after recovery from surgery. To our knowledge, the relationship between psychological distress and outcomes after arthroscopic rotator cuff repair has not been similarly investigated. QUESTIONS/PURPOSES: (1) Are higher levels of preoperative psychological distress associated with differences in outcome scores (visual analog scale [VAS] for pain, Simple Shoulder Test, and American Shoulder and Elbow Surgeons score) 1 year after arthroscopic rotator cuff repair? (2) Are higher levels of preoperative psychological distress associated with less improvement in outcome scores (VAS for pain, Simple Shoulder Test, and American Shoulder and Elbow Surgeons score) 1 year after arthroscopic rotator cuff repair? (3) Does the prevalence of psychological distress in a population with full-thickness rotator cuff tears change when assessed preoperatively and 1 year after arthroscopic rotator cuff repair? METHODS: Eighty-five patients with full-thickness rotator cuff tears were prospectively enrolled; 70 patients (82%) were assessed at 1-year followup. During the study period, the three participating surgeons performed 269 rotator cuff repairs; in large part, the low overall rate of enrollment was related to two surgeons enrolling only two patients total in the initial 14 months of the study. Psychological distress was quantified using the Distress Risk Assessment Method questionnaire, and patients completed self-assessments including the VAS for pain, the Simple Shoulder Test, and the American Shoulder and Elbow Surgeons score preoperatively and 1 year after arthroscopic rotator cuff repair. Fifty of 85 patients (59%) had normal levels of distress, 26 of 85 (31%) had moderate levels of distress, and nine of 85 (11%) had severe levels of distress. Statistical models were used to assess the effect of psychological distress on patient self-assessment of shoulder pain and function at 1 year after surgery. RESULTS: With the numbers available, distressed patients were not different from nondistressed patients in terms of postoperative VAS for pain (1.9 [95% confidence interval {CI}, 1.0-2.8] versus 1.0 [95% CI, 0.5-1.4], p = 0.10), Simple Shoulder Test (9 [95% CI, 8.1-10.4] versus 11 [95% CI, 10.0-11.0], p = 0.06), or American Shoulder and Elbow Surgeons scores (80 [95% CI, 72-88] versus 88 [95% CI, 84-92], p = 0.08) 1 year after arthroscopic rotator cuff repair. With the numbers available, distressed patients also were not different from nondistressed patients in terms of the amount of improvement in scores between preoperative assessment and 1-year followup on the VAS for pain (3 [95% CI, 2.2-4.1] versus 2 [95% CI, 1.4-2.9], p = 0.10), Simple Shoulder Test (5.2 [95% CI, 3.7-6.6] versus 5.0 [95% CI, 4.2-5.8], p = 0.86), or American Shoulder and Elbow Surgeons scale (38 [95% CI, 29-47] versus 30 [95% CI, 25-36], p = 0.16). The prevalence of psychological distress in our patient population was lower at 1 year after surgery 14 of 70 (20%) versus 35 of 85 (41%) preoperatively (odds ratio, 0.36; 95% CI, 0.17-0.74; p = 0.005). CONCLUSIONS: Mild to moderate levels of distress did not diminish patient-reported outcomes to a clinically important degree in this small series of patients with rotator cuff tears. This contrasts with reports from other areas of orthopaedic surgery and may be related to a more self-limited course of symptoms in patients with rotator cuff disease or possibly to a beneficial effect of rotator cuff repair on sleep quality or other unrecognized determinants of psychosocial status. LEVEL OF EVIDENCE: Level I, prognostic study.