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1.  The Shoulder Function Index (SFInX): a clinician-observed outcome measure for people with a proximal humeral fracture 
Background
Proximal humeral fractures are amongst the most common fractures. Functional recovery is often slow and many people have ongoing disability during activities of daily life. Unidimensional measurement of activity limitations is required to monitor functional progress during rehabilitation. However, currentshoulder measures are multidimensional incorporating constructs such as activities, range of motion and pain into a single scale. Psychometric information of these measures is scarce in this population, and indicate measurement issues with reliability. Therefore, the aim was to develop the clinician-observed Shoulder Function Index (SFInX), a unidimensional, interval-level measure of ‘shoulder function’ based on actual performance of activities, reflecting activity limitations following a proximal humeral fracture.
Methods
An outcome measure development study was performed including item generation (existing shoulder measures, focus groups) and item selection (selection criteria, importance and feasibility ratings, pilot testing, Rasch analysis). Clinicians (n=15) and people with a proximal humeral fracture (n=13) participated in focus groups. Items were pilot tested (n=12 patients) and validated in a Rasch study. The validation study sample (n=92, 86% female) were recruited between 5 and 52 weeks post-fracture and had a mean age of 63.5 years (SD13.9). Measurements at recruitment and 6 and 7 weeks later were taken in three public metropolitan hospitals or during home visits. Raw SFInX data were analysed with WINSTEPS v3.74 using polytomous Rasch models.
Results
From 282 generated items, 42 items were selected to be rated by clinicians and patients; 34 items were pilot tested and 16 items were included for Rasch analysis. The final SFInX, developed with the Partial Credit Model, contains 13 items and has the response categories: ‘unable’, ‘partially able’ and ‘able’. It is unidimensional measuring ‘shoulder function’, and can measure from early functional use (drinking from a cup) to independence around the house (lifting items above head, carrying heavy items).
Conclusions
The SFInX is a promising outcome measure of shoulder function for people with a proximal humeral fracture. It has content relevant to patients and clinicians, is unidimensional and feasible for use in clinical and home settings. In its current form, the SFInX is ready for further psychometric evaluation, and for subsequent use in clinical settings and research.
Electronic supplementary material
The online version of this article (doi:10.1186/s12891-015-0481-x) contains supplementary material, which is available to authorized users.
doi:10.1186/s12891-015-0481-x
PMCID: PMC4336677
Shoulder fractures; Rehabilitation; Outcome assessment (Health Care); Shoulder function index; Rasch analysis; Content and structural validity
2.  Clinical characteristics and biopsy accuracy in suspected cases of Sjögren’s syndrome referred to labial salivary gland biopsy 
Background
Labial salivary gland biopsy (LSGB) is the most important diagnostic tool for the diagnosis of Sjögren’s syndrome (SS), but its diagnostic value is rarely studied. This study assessed the sensibility and specificity of LSGB, and the clinical profiles of patients who were referred for biopsy.
Methods
Retrospective analysis of the histopathological reports from LSGB and medical report data from patients who underwent LSGB between 2008 and 2011 was conducted.
Results
About 290 biopsies were performed and 74 were excluded due to insufficient clinical data. Of the 216 patients, 0.46% was carrier of hepatitis C virus, 30.1% had primary SS (pSS), and 8.8% had secondary SS (sSS). Of the samples, 94.3% presented dryness symptoms, 51.6% experienced dryness only, 42.7% had systemic manifestations, and 66.9% presented low unstimulated salivary flow and/or Schirmer’s test. LSGB was necessary in 67.6% to confirm the presence of SS based on the American-European Consensus Group 2002 criteria (AECG). Based on specialist’s opinion, sensibility level was 86.57%, and specificity was 97.43%. Positive predictive value (PPV) was 95%, and negative predictive value (NPV) was 92.6%. Determined accuracy was 93.3%. Concordance (kappa coefficient) of LSGB and specialist’s opinion was 0.851, and LSGB with AECG criteria was 0.806. Of the 98 patients referred with fibromyalgia and dryness, 36.7% had SS and LSBG focus score of ≥ 1. Patients with SS were older, and showed more severe lachrymal and salivary dysfunctions, greater frequency of fibromyalgia, anti-nuclear antibodies (ANA), anti-SSA-Ro, and anti-SSB-La.
Conclusions
Labial salivary gland biopsy has high sensibility, specificity, positive and negative predictive values for diagnosis of pSS. In the clinical practice, it is useful, especially for those patients with glandular dysfunctions and negative antibodies.
doi:10.1186/s12891-015-0482-9
PMCID: PMC4332430
Biopsy; Labial salivary gland; Primary Sjögren’s syndrome; Sensibility; Specificity
3.  Altered movement patterns and muscular activity during single and double leg squats in individuals with anterior cruciate ligament injury 
Background
Individuals with Anterior Cruciate Ligament (ACL) injury often show altered movement patterns, suggested to be partly due to impaired sensorimotor control. Here, we therefore aimed to assess muscular activity during movements often used in ACL-rehabilitation and to characterize associations between deviations in muscular activity and specific altered movement patterns, using and further exploring the previously developed Test for substitution Patterns (TSP).
Methods
Sixteen participants (10 women) with unilateral ACL rupture performed Single and Double Leg Squats (SLS; DLS). Altered movement patterns were scored according to TSP, and Surface Electromyography (SEMG) was recorded bilaterally in six hip, thigh and shank muscles. To quantify deviations in muscular activity, SEMG ratios were calculated between homonymous muscles on injured and non-injured sides, and between antagonistic muscles on the same side. Correlations between deviations of injured/non-injured side SEMG ratios and specific altered movement patterns were calculated.
Results
Injured/non-injured ratios were low at transition from knee flexion to extension in quadriceps in SLS, and in quadriceps and hamstrings in DLS. On injured side, the quadriceps/hamstrings ratio prior to the beginning of DLS and end of DLS and SLS, and tibialis/gastrocnemius ratio at end of DLS were lower than on non-injured side. Correlations were found between specific altered movement patterns and deviating muscular activity at transition from knee flexion to extension in SLS, indicating that the more deviating the muscular activity on injured side, the more pronounced the altered movement pattern. “Knee medial to supporting foot” correlated to lower injured/non-injured ratios in gluteus medius (rs = −0.73, p = 0.001), “lateral displacement of hip-pelvis-region” to lower injured/non-injured ratios in quadriceps (rs = −0.54, p = 0.03) and “displacement of trunk” to higher injured/non-injured ratios in gluteus medius (rs = 0.62, p = 0.01).
Conclusions
Deviations in muscular activity between injured and non-injured sides and between antagonistic muscular activity within injured as compared to non-injured sides indicated specific alterations in sensorimotor control of the lower limb in individuals with ACL rupture. Also, correlations between deviating muscular activity and specific altered movement patterns were suggested as indications of altered sensorimotor control. We therefore advocate that quantitative assessments of altered movement patterns should be considered in ACL-rehabilitation.
Electronic supplementary material
The online version of this article (doi:10.1186/s12891-015-0472-y) contains supplementary material, which is available to authorized users.
doi:10.1186/s12891-015-0472-y
PMCID: PMC4333170
Anterior cruciate ligament; Movement pattern; Muscular activity; Motor skills; Motor control; Single leg squat; Electromyography (EMG); Postural orientation; Assessment; Physiotherapy
4.  Is neuroplasticity in the central nervous system the missing link to our understanding of chronic musculoskeletal disorders? 
Background
Musculoskeletal rehabilitative care and research have traditionally been guided by a structural pathology paradigm and directed their resources towards the structural, functional, and biological abnormalities located locally within the musculoskeletal system to understand and treat Musculoskeletal Disorders (MSD). However the structural pathology model does not adequately explain many of the clinical and experimental findings in subjects with chronic MSD and, more importantly, treatment guided by this paradigm fails to effectively treat many of these conditions.
Discussion
Increasing evidence reveals structural and functional changes within the Central Nervous System (CNS) of people with chronic MSD that appear to play a prominent role in the pathophysiology of these disorders. These neuroplastic changes are reflective of adaptive neurophysiological processes occurring as the result of altered afferent stimuli including nociceptive and neuropathic transmission to spinal, subcortical and cortical areas with MSD that are initially beneficial but may persist in a chronic state, may be part and parcel in the pathophysiology of the condition and the development and maintenance of chronic signs and symptoms. Neuroplastic changes within different areas of the CNS may help to explain the transition from acute to chronic conditions, sensory-motor findings, perceptual disturbances, why some individuals continue to experience pain when no structural cause can be discerned, and why some fail to respond to conservative interventions in subjects with chronic MSD. We argue that a change in paradigm is necessary that integrates CNS changes associated with chronic MSD and that these findings are highly relevant for the design and implementation of rehabilitative interventions for this population.
Summary
Recent findings suggest that a change in model and approach is required in the rehabilitation of chronic MSD that integrate the findings of neuroplastic changes across the CNS and are targeted by rehabilitative interventions. Effects of current interventions may be mediated through peripheral and central changes but may not specifically address all underlying neuroplastic changes in the CNS potentially associated with chronic MSD. Novel approaches to address these neuroplastic changes show promise and require further investigation to improve efficacy of currents approaches.
doi:10.1186/s12891-015-0480-y
PMCID: PMC4331171
Musculoskeletal disorders; Chronic low back pain; Osteoarthritis; Neuroplasticity; Periaqueductal grey; Rostral ventromedial medulla; Rehabilitation; Primary somatosensory cortex; Primary motor cortex; Limbic; Pre-frontal; Pain
5.  Epidemiological profile of Dupuytren’s disease in Taiwan (Ethnic Chinese): a nationwide population-based study 
Background
The epidemiologic profile of ethnic Chinese patients with Dupuytren’s disease is unknown. We therefore investigated the epidemiology of Dupuytren’s disease using Taiwan’s National Health Insurance Research Database.
Methods
Patients who filed claims for treatment for Dupuytren’s disease between January 2000 and December 2011 were identified in the database. Age- and gender-specific incidences were estimated by dividing the incidence number by population data.
Results
We identified 1,078 patients with Dupuytren’s disease (681 men, 397 women; male/female ratio: 1:1.72). The annual incidence rate ranged from 0.39-0.63/105 for men and 0.14-0.44/105 for women. A trend analysis revealed a rising trend in the annual incidence from 2001 to 2011 (p = 0.0199). The prevalence rate increased steadily from 0.46/105 in 2000 to 4.52/105 in 2011 (p = 0.0186). The mean age at onset was significantly higher in men than in women (60.7 ± 18.4 vs. 53.7 ± 15.5 years). Peak age at onset for men was 70–79 (28.1%) and for women was 50–59 (33.5%). Men > 60 years old had higher incidence rates than did women (incidence rate ratios: 2.0, 4.5, and 6.6 for those 60–69, 70–79, and ≥ 80, respectively). Hypertension (29.6%), diabetes mellitus (21.9%), hyperlipidemia (14.8%), ischemic heart disease (10.5%), and chronic obstructive pulmonary disease (8.0%) were the most common comorbidities.
Conclusions
The incidence and prevalence of Dupuytren’s disease and the male/female ratio were significantly lower in ethnic Chinese than in Western ethnic groups. Moreover, the age at onset was significantly lower in ethnic Chinese women. However, the incidences of three comorbidities (hypertension, diabetes mellitus, and hyperlipidemia) were similar to those in other ethnicities.
Electronic supplementary material
The online version of this article (doi:10.1186/s12891-015-0476-7) contains supplementary material, which is available to authorized users.
doi:10.1186/s12891-015-0476-7
PMCID: PMC4324654
Dupuytren’s disease; Epidemiology; Ethnic; Chinese
6.  The effects of exercise type and elbow angle on vertical ground reaction force and muscle activity during a push-up plus exercise 
Background
Proper alignment of the scapula during upper extremity motion is important in maintaining shoulder joint function and health. Push-up plus exercise is considered as one of the best exercise to strengthen the muscles that stabilize the scapula. The purpose of the study is to examine the effects of push-up plus variants and elbow position on vertical ground reaction force and electromyographical activity of four shoulder muscles during concentric contraction.
Methods
A total of 22 healthy subjects volunteered for the study. Each of the subjects performed both modified and traditional push-up plus. Modified push-up plus was performed with both knees and hands touching the ground while the traditional push-up plus was executed with hands and feet contacting the ground. Electromyography (EMG) of the upper trapezius (UT), lower trapezius (LT), infraspinatus (INFRA), and serratus anterior (SA), and vertical ground reaction forces (vGRF) were collected.
Results
The traditional push-up plus exhibited higher EMG activity in all muscles tested (P < .05) and vertical ground reaction force (P < .001) compared to modified push-up plus. The highest difference in EMG activity between the two exercises was observed with the Serratus Anterior muscle (22%). Additionally, the traditional push-up plus presented a higher vGRF compared to the modified push-up plus (P < .001) by 17%. The SA had the greatest EMG activity compared to the other muscles tested during the concentric phase of the traditional push-up plus, and this did not occur during the plus phase of the exercise.
Conclusion
The highest activity of the serratus anterior occurred at 55° of elbow extension during the concentric phase of the traditional PUP and not at the plus phase of the exercise. This suggests that when prescribing an exercise to target the serratus anterior, a traditional push-up is adequate and the plus-phase is not necessary. However, for patients that cannot perform a traditional push-up, the modified push-up plus would be a great alternative to strengthen their serratus anterior.
doi:10.1186/s12891-015-0486-5
PMCID: PMC4327800
Scapula; Rehabilitation; Muscle recruitment; Shoulder
7.  Detection of early cartilage deterioration associated with meniscal tear using T1ρ mapping magnetic resonance imaging 
Background
In patients with degenerative meniscal tears, subclinical cartilage degeneration may be present even if gross morphological changes are not evident. The aim of this study was to detect occult cartilage degeneration using T1ρ MRI mapping in patients with meniscal tears without obvious radiographic osteoarthritis (OA).
Methods
A total of 22 subjects with degenerative meniscal tears in the early stages of osteoarthritis [Kellgren-Lawrence (KL) grade of 0–2] and 19 healthy subjects as the control group were examined. The femoral condyle was divided into four 30° wedges (−30°–0° anteriorly, 0°–30°, 30°–60° and 60°–90° posteriorly), and each area of cartilage was further divided into superficial and deep layers of equal thickness. The tibial side was divided into anterior and posterior areas with superficial and deep layers in each. The mean T1ρ values (ms) in each area were calculated.
Results
On the femoral side, T1ρ values of the superficial and deep regions (−30°–0°, 0°–30° and 30°–60°) in the meniscal tear group were significantly higher than those in the control group [superficial (−30°–0°): 49.0 ± 4.0 (meniscal tear group) vs 45.1 ± 2.1 (control group), deep (−30°–0°): 45.2 ± 3.3 vs 39.5 ± 5.0, superficial (0°–30°): 54.5 ± 5.3 vs 47.4 ± 5.7, deep (0°–30°): 46.8 ± 4.0 vs 40.7 ± 6.3, superficial (30°–60°): 50.5 ± 3.1 vs 47.1 ± 5.7]. On the tibial side, the meniscal tear group had significantly higher T1ρ values superficially in both anterior and posterior regions compared with the control group [superficial (anterior): 52.0 ± 4.3 vs 46.7 ± 5.4, superficial (posterior): 53.1 ± 5.1 vs 46.0 ± 4.9]. Moreover, these significant differences were observed when comparing patients in the meniscal tear group with KL grades of 0 or 1 and the control group.
Conclusions
Our study suggested that early biochemical changes in cartilage associated with degenerative meniscal tears occur first in the superficial zones in areas of contact during slight flexion. Characterising the early relationship between cartilage degeneration and degenerative meniscal tears using T1ρ MRI mapping may be of clinical benefit and provide further evidence linking meniscal injury to OA.
doi:10.1186/s12891-015-0487-4
PMCID: PMC4327971
Cartilage degeneration; Meniscus; Osteoarthritis; Magnet resonance imaging (MRI); T1ρ MRI
8.  Efficacy of anti–tumor necrosis factor therapy for extra-articular manifestations in patients with ankylosing spondylitis: a meta–analysis 
Background
We performed a meta-analysis to evaluate the effect of anti–tumor necrosis factor (TNF) therapy on the frequency of extra–articular manifestations (EAMs) in patients with ankylosing spondylitis (AS).
Methods
We searched with the terms ‘ankylosing spondylitis’, ‘infliximab’, ‘etanercept’, ‘adalimumab’, ‘golimumab’, ‘certolizumab’, ‘TNF inhibitor/blocker/antagonists’ or ‘anti-TNF’ on MEDLINE, EMBASE and Cochrane Library for randomized controlled trials (RCTs) of ≥12 weeks with parallel or crossover design of TNF inhibitor versus placebo to treat uveitis, inflammatory bowel disease (IBD) and/or psoriasis of AS, published before February 2014.
Results
We found 8 RCTs that fit our criteria. Anti–TNF therapy was associated with less uveitis than placebo in patients with AS (OR: 0.35, 95% CI: 0.15–0.81, P = 0.01). Subgroup analysis showed receptor fusion proteins were more efficacious for uveitis than placebo (OR: 0.30, 95% CI: 0.09–0.94, P = 0.04), but monoclonal antibodies were not (OR: 0.43, 95% CI: 0.12–1.49, P = 0.18). Anti–TNF therapy and placebo group did not significantly differ in treating IBD in AS patients (OR: 0.75, 95% CI: 0.25–2.29, P = 0.61). In subgroup analysis, neither monoclonal antibodies (OR: 0.45, 95% CI: 0.10–1.92, P = 0.28) nor receptor fusion proteins (OR: 1.52, 95% CI: 0.25–9.25, P = 0.65) significantly differed from placebo in treating IBD. We found no suitable reports on psoriasis.
Conclusions
Anti–TNF therapy was preventive for flares or new onset of uveitis in AS patients, and might be an alternative for these patients. However, monoclonal anti–TNF antibodies and TNF receptor fusion proteins were not efficacious for IBD in AS patients.
doi:10.1186/s12891-015-0489-2
PMCID: PMC4328050
Ankylosing spondylitis; Anti-TNF therapy; Extra–articular manifestations; Uveitis; Inflammatory bowel disease; Meta–analysis
9.  Single administration of intra-articular bupivacaine in arthroscopic knee surgery: a systematic review and meta-analysis 
Background
Single administration of intra-articular (IA) bupivacaine for pain relief after arthroscopic knee surgery is effective, but its active duration and dose–response relationship is unclear. We conducted this meta-analysis to summarize all published randomized controlled trials (RCTs), thus providing the most recent information on the safety and efficacy of single-administration IA bupivacaine for pain relief after arthroscopic knee surgery, and to determine whether a dose–response relationship exists.
Methods
A systematic electronic literature search (through April 2014) was conducted to identify those RCTs that addressed the safety and efficacy of a single administration of IA bupivacaine for pain management after arthroscopic knee surgery. Subgroup analysis was conducted to determine changes in visual analog scale (VAS) scores at seven postoperative time points. Meta-regression and subgroup analyses were carried out to assess the effects of various treatment factors on efficacy and to evaluate the dose–response relationship of bupivacaine. Weighted mean differences or relative risks were calculated and pooled using a random-effects model.
Results
Twenty-eight trials involving 1,560 patients who underwent arthroscopic knee surgery met the inclusion criteria. The trials were subject to medium risk of bias. VAS scores at 2, 4, 6, 12, and 24 h postoperatively were significantly lower, the number of patients requiring supplementary analgesia was smaller, and the time to first request for analgesia was longer in the IA bupivacaine group than in the placebo group. The analgesic effect of single-administration IA bupivacaine may be associated with the effect of concomitant administration of epinephrine and concentration of bupivacaine, and no dose–response relationship was identified. No significant difference in side effects was detected between groups.
Conclusions
Current evidence shows that the use of single-administration IA bupivacaine is effective for postoperative pain management in patients undergoing arthroscopic knee surgery, with satisfactory short-term safety. Low-dose administration of IA bupivacaine 0.5% combined with epinephrine adjuvant in clinical practice should be performed. Additional high-quality RCTs with longer follow-up periods are required to examine the safety of single-administration IA bupivacaine.
Electronic supplementary material
The online version of this article (doi:10.1186/s12891-015-0477-6) contains supplementary material, which is available to authorized users.
doi:10.1186/s12891-015-0477-6
PMCID: PMC4328055
Arthroscopic surgery; Bupivacaine; Efficacy; Safety; Meta-analysis
10.  Risk factors for venous thromboembolism of total hip arthroplasty and total knee arthroplasty: a systematic review of evidences in ten years 
Background
Risk factors for venous thromboembolism (VTE) of total joint arthroplasty (TJA) have been examined by many studies. A comprehensive systematic review of recent findings of high evidence level in this topic is needed.
Methods
We conducted a PubMed search for papers published between 2003 and 2013 that provided level-I and level-II evidences on risk factors for VTE of TJA. For each potential factors examined in at least three papers, we summarize the the number of the papers and confirmed the direction of statistically significant associations, e.g. “risk factor” “protective factor” or “controversial factor”.
Results
Fifty-four papers were included in the systematic review. Risk factors found to be associated with VTE of both total hip arthroplasty and total knee arthroplasty included older age, female sex, higher BMI, bilateral surgery, surgery time > 2 hours. VTE history was found as a VTE risk factor of THA but an controversial factor of TKA. Cemented fixation as compared to cementless fixation was found as a risk factor for VTE only of TKA. TKA surgery itself was confirmed as a VTE risk factor compared with THA surgery.
Conclusions
This systematic review of high level evidences published in recent ten years identified a range of potential factors associated with VTE risk of total joint arthroplasty. These results can provide informations in this topic for doctors, patients and researchers.
doi:10.1186/s12891-015-0470-0
PMCID: PMC4328702
Total hip arthroplasty; Total knee arthroplasty; Venous thromboembolism; Risk factor; Systematic review
11.  BMC Musculoskeletal Disorders reviewer acknowledgement 2014 
doi:10.1186/s12891-015-0463-z
PMCID: PMC4319223  PMID: 25656078
12.  Outcome prediction in chronic unilateral lumbar radiculopathy: prospective cohort study 
Background
Identification of prognostic factors for persistent pain and disability are important for better understanding of the clinical course of chronic unilateral lumbar radiculopathy and to assist clinical decision-making. There is a lack of scientific evidence concerning prognostic factors. The aim of this study was to identify clinically relevant predictors for outcome at 52 weeks.
Methods
116 patients were included in a sham controlled clinical trial on epidural injection of glucocorticoids in patients with chronic unilateral lumbar radiculopathy. Success at follow-up was ≤17.5 for visual analogue scale (VAS) leg pain, ≤22.5 for VAS back pain and ≤20 for Oswestry Disability Index (ODI). Fifteen clinically relevant variables included demographic, psychosocial, clinical and radiological data and were analysed using a logistic multivariable regression analysis.
Results
At follow-up, 75 (64.7%) patients had reached a successful outcome with an ODI score ≤20, 54 (46.6%) with a VAS leg pain score ≤17.5, and 47 (40.5%) with a VAS back pain score ≤22.5.
Lower age (OR 0.94 (CI 0.89–0.99) for each year decrease in age) and FABQ Work ≥34 (OR 0.16 (CI 0.04-0.61)) were independent variables predicting a successful outcome on the ODI.
Higher education (OR 5.77 (CI 1.46–22.87)) and working full-time (OR 2.70 (CI 1.02–7.18)) were statistically significant (P <0.05) independent predictors for successful outcome (VAS score ≤17.5) on the measure of leg pain. Lower age predicted success on ODI (OR 0.94 (95% CI 0.89 to 0.99) for each year) and less back pain (OR 0.94 (0.90 to 0.99)), while higher education (OR 5.77 (1.46 to 22.87)), working full-time (OR 2.70 (1.02 to 7.18)) and muscle weakness at baseline (OR 4.11 (1.24 to 13.61) predicted less leg pain, and reflex impairment at baseline predicted the contrary (OR 0.39 (0.15 to 0.97)).
Conclusions
Lower age, higher education, working full-time and low fear avoidance beliefs each predict a better outcome of chronic unilateral lumbar radiculopathy. Specifically, lower age and low fear avoidance predict a better functional outcome and less back pain, while higher education and working full-time predict less leg pain. These results should be validated in further studies before being used to inform patients.
Trial registration
Current Controlled Trials ISRCTN12574253. Registered 18 May 2005.
doi:10.1186/s12891-015-0474-9
PMCID: PMC4326298
Chronic unilateral lumbar radiculopathy; Lumbar nerve root impingement; Outcome prediction; Radiculopathy; Sciatica
13.  Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls 
Background
Spinal muscular atrophy (SMA) is caused by SMN1 dysfunction, and the copy number of SMN2 and NAIP can modify the phenotype of SMA. The aim of this study was to analyze the copy numbers and gene structures of SMA-related genes in Chinese SMA patients and unrelated healthy controls.
Methods
Forty-two Chinese SMA patients and two hundred and twelve unrelated healthy Chinese individuals were enrolled in our study. The copy numbers and gene structures of SMA-related genes were measured by MLPA assay.
Results
We identified a homozygous deletion of SMN1 in exons 7 and 8 in 37 of 42 patients (88.1%); the other 5 SMA patients (11.9%) had a single copy of SMN1 exon 8. The proportions of the 212 unrelated healthy controls with different copy numbers for the normal SMN1 gene were 1 copy in 4 individuals (1.9%), 2 copies in 203 (95.7%) and 3 copies in 5 (2.4%). Three hybrid SMN genes and five genes that lack partial sequences were found in SMA patients and healthy controls. Distributions of copy numbers for normal SMN2 and NAIP were significantly different (P < 0.001) in people with and without SMA.
Conclusion
The copy numbers and gene structures of SMA-related genes were different in Chinese SMA patients and healthy controls.
doi:10.1186/s12891-015-0457-x
PMCID: PMC4328246
Chinese; MLPA; SMA; Gene copy number
14.  Reducing gender disparities in post-total knee arthroplasty expectations through a decision aid 
Background
Gender disparities in total knee arthroplasty utilization may be due to differences in perceptions and expectations about total knee arthroplasty outcomes. This study evaluates the impact of a decision aid on perceptions about total knee arthroplasty and decision-making parameters among patients with knee osteoarthritis.
Methods
Patients with moderate to severe knee osteoarthritis viewed a video about knee osteoarthritis treatments options, including total knee arthroplasty, and received a personalized arthritis report. An adapted version of the Western Ontario and McMaster Universities Osteoarthritis Index was used to assess pain and physical function expectations following total knee arthroplasty before/after the intervention. These scores were compared to an age- and gender-adjusted means for a cohort of patients who had undergone total knee arthroplasty. Decision readiness and conflict were also measured.
Results
At baseline, both men and women had poorer expectations about post-operative pain and physical outcomes compared with observed outcomes of the comparator group. Following the intervention, women’s mean age-adjusted expectations about post- total knee arthroplasty pain outcomes improved (Pre: 27.0; Post: 21.8 [p =0.08; 95% CI −0.7, 11.0]) and were closer to observed post-TKA outcomes; whereas men did not have a significant change in their pain expectations (Pre: 21.3; Post: 19.6 [p = 0.6; 95% CI −5.8, 9.4]). Women also demonstrated a significant improvement in decision readiness; whereas men did not. Both genders had less decision conflict after the intervention.
Conclusions
Both women and men with osteoarthritis had poor estimates of total knee arthroplasty outcomes. Women responded to the intervention with more accurate total knee arthroplasty outcome expectations and greater decision readiness. Improving patient knowledge of total knee arthroplasty through a decision aid may improve medical decision-making and reduce gender disparities in total knee arthroplasty utilization.
Electronic supplementary material
The online version of this article (doi:10.1186/s12891-015-0473-x) contains supplementary material, which is available to authorized users.
doi:10.1186/s12891-015-0473-x
PMCID: PMC4328497
Osteoarthritis; Decision aid; Knee arthroplasty; Gender
15.  Association between socioeconomic status and pain, function and pain catastrophizing at presentation for total knee arthroplasty 
Background
Patients with higher socioeconomic status (SES) are shown to have better total knee arthroplasty (TKA) outcomes compared to those with lower SES. The relationship between SES and factors that influence TKA use is understudied. We examined the association between SES and pain, function and pain catastrophizing at presentation for TKA.
Methods
In patients undergoing TKA at an academic center, we obtained preoperative pain and functional status (WOMAC Index 0–100, 100 worst), pain catastrophizing (PCS, ≥16 high), and mental health (MHI-5, <68 poor). We described individual-level SES using education as a proxy, and area-level SES using a validated composite index linking geocoded addresses to U.S. Census data. We measured associations between these indicators and pain, function and pain catastrophizing, adjusting for age, sex and BMI.
Results
Among 316 patients, mean age was 65.9 (SD 8.7), 59% were female, and 88% were Caucasian; 17% achieved less than college education and 62% were college graduates. The median area SES index score was 59 (U.S. median 51). Bivariable analyses demonstrated associations between higher individual- and area-level SES and lower pain, higher function and less pain catastrophizing (all p<0.05). Adjusted analyses demonstrated statistically significant associations between higher individual- and area-level SES and better function and less pain.
Conclusion
In this cohort, patients with higher individual- and area-level SES had lower pain and higher function at the time of TKA than lower SES patients. Further research is needed to assess what constitutes appropriate levels of pain and function to undergo TKA in these higher SES groups.
Electronic supplementary material
The online version of this article (doi:10.1186/s12891-015-0475-8) contains supplementary material, which is available to authorized users.
doi:10.1186/s12891-015-0475-8
PMCID: PMC4329215
Total Knee arthroplasty; Socioeconomic status; Pain; Osteoarthritis
16.  Internet based patient education improves informed consent for elective orthopaedic surgery: a randomized controlled trial 
Background
Obtaining informed consent is an essential step in the surgical pathway. Providing adequate patient education to enable informed decision making is a continued challenge of contemporary surgical practice. This study investigates whether the use of a patient information website, to augment patient education and informed consent for elective orthopaedic procedures is an effective measure.
Methods
A randomised controlled trial was conducted comparing the quality of informed consent provided by a standard discussion with the treating surgeon compared to augmentation of this discussion with an online education resource (www.orthoanswer.org). Participants were recruited from orthopaedic outpatient clinics. Patients undergoing five common orthopaedic procedures were eligible to participate in the trial. The primary outcome measure was knowledge about their operation. Satisfaction with their informed consent and anxiety relating to their operation were the secondary outcome measures.
Results
There was a statistically significant increase in patient knowledge for the intervention arm as compared to the control arm (p < 0.01). Patients in the intervention arm, had an average score of 69.25% (SD 14.91) correct answers as compared to 47.38% (SD 17.77) in the control arm. Satisfaction was also improved in the intervention arm (p = 0.043). There was no statistically significant difference between the control and intervention arm relating to their anxiety scores (p = 0.195).
Conclusions
The use of a patient education website as an augment to informed consent improves patient knowledge about their planned operation as well as satisfaction with the consent process whilst not increasing their anxiety levels. We recommend that all patients be directed to web based education tools to augment their consent.
Trial registration
Australian New Zealand Clinical Trials Registry (ANZCTR) ACTRN12614001058662.
doi:10.1186/s12891-015-0466-9
PMCID: PMC4331305
17.  Effectiveness of physiotherapy exercise following total knee replacement: systematic review and meta-analysis 
Background
Rehabilitation, with an emphasis on physiotherapy and exercise, is widely promoted after total knee replacement. However, provision of services varies in content and duration. The aim of this study is to update the review of Minns Lowe and colleagues 2007 using systematic review and meta-analysis to evaluate the effectiveness of post-discharge physiotherapy exercise in patients with primary total knee replacement.
Methods
We searched MEDLINE, Embase, PsycInfo, CINAHL and Cochrane CENTRAL to October 4th 2013 for randomised evaluations of physiotherapy exercise in adults with recent primary knee replacement.
Outcomes were: patient-reported pain and function, knee range of motion, and functional performance. Authors were contacted for missing data and outcomes. Risk of bias and heterogeneity were assessed. Data was combined using random effects meta-analysis and reported as standardised mean differences (SMD) or mean differences (MD).
Results
Searches identified 18 randomised trials including 1,739 patients with total knee replacement. Interventions compared: physiotherapy exercise and no provision; home and outpatient provision; pool and gym-based provision; walking skills and more general physiotherapy; and general physiotherapy exercise with and without additional balance exercises or ergometer cycling.
Compared with controls receiving minimal physiotherapy, patients receiving physiotherapy exercise had improved physical function at 3–4 months, SMD −0.37 (95% CI −0.62, −0.12), and pain, SMD −0.45 (95% CI −0.85, −0.06). Benefit up to 6 months was apparent when considering only higher quality studies.
There were no differences for outpatient physiotherapy exercise compared with home-based provision in physical function or pain outcomes. There was a short-term benefit favouring home-based physiotherapy exercise for range of motion flexion.
There were no differences in outcomes when the comparator was hydrotherapy, or when additional balancing or cycling components were included. In one study, a walking skills intervention was associated with a long-term improvement in walking performance. However, for all these evaluations studies were under-powered individually and in combination.
Conclusion
After recent primary total knee replacement, interventions including physiotherapy and exercise show short-term improvements in physical function. However this conclusion is based on meta-analysis of a few small studies and no long-term benefits of physiotherapy exercise interventions were identified. Future research should target improvements to long-term function, pain and performance outcomes in appropriately powered trials.
Electronic supplementary material
The online version of this article (doi:10.1186/s12891-015-0469-6) contains supplementary material, which is available to authorized users.
doi:10.1186/s12891-015-0469-6
PMCID: PMC4333167
Systematic review; Meta-analysis; Rehabilitation; Physiotherapy; Total knee replacement; Arthroplasty; Exercise; Osteoarthritis; Outcome
18.  Daytime napping associated with increased symptom severity in fibromyalgia syndrome 
Background
Previous qualitative research has revealed that people with fibromyalgia use daytime napping as a coping strategy for managing symptoms against clinical advice. Yet there is no evidence to suggest whether daytime napping is beneficial or detrimental for people with fibromyalgia. The purpose of this study was to explore how people use daytime naps and to determine the links between daytime napping and symptom severity in fibromyalgia syndrome.
Methods
A community based sample of 1044 adults who had been diagnosed with fibromyalgia syndrome by a clinician completed an online questionnaire. Associations between napping behavior, sleep quality and fibromyalgia symptoms were explored using Spearman correlations, with possible predictors of napping behaviour entered into a logistic regression model. Differences between participants who napped on a daily basis and those who napped less regularly, as well as nap duration were explored.
Results
Daytime napping was significantly associated with increased pain, depression, anxiety, fatigue, memory difficulties and sleep problems. Sleep problems and fatigue explained the greatest amount of variance in napping behaviour, p < 0.010. Those who engaged in daytime naps for >30 minutes had higher memory difficulties (t = −3.45) and levels of depression (t = −2.50) than those who napped for shorter periods (<30mins) (p < 0.010).
Conclusions
Frequent use and longer duration of daytime napping was linked with greater symptom severity in people with fibromyalgia. Given the common use of daytime napping in people with fibromyalgia evidence based guidelines on the use of daytime napping in people with chronic pain are urgently needed.
doi:10.1186/s12891-015-0464-y
PMCID: PMC4333241
Daytime napping; Fibromyalgia syndrome; Sleep; Memory; Pain; Fatigue
19.  A multi-center, double-blind, randomized, placebo-controlled trial protocol to assess Traumeel injection vs dexamethasone injection in rotator cuff syndrome: the TRAumeel in ROtator cuff syndrome (TRARO) study protocol 
Background
Shoulder pain is a common musculoskeletal symptom with a wide range of potential causes; however, the majority of conditions can be managed with conservative treatment. The aim of this study is to assess the efficacy and safety of Traumeel injections versus corticosteroid injections and placebo in the treatment of rotator cuff syndrome and bursitis and expand the current evidence base for the conservative treatment of rotator cuff syndrome.
Methods/Design
This is a multi-center, randomized, double-blind, 16-week, three-arm, parallel-group, active- and placebo-controlled trial to assess the efficacy and safety of Traumeel 2 ml injection versus dexamethasone 8 mg injection versus placebo (saline solution). Patients will be randomly allocated to Traumeel, dexamethasone or placebo in a 2:2:1 randomization. After 1 week screening, patients will receive 3 injections at weekly intervals (days 1, 8 and 15) with additional follow-up assessments on day 22, a telephone consultation in week 9 and a final visit at week 15. Male and female patients aged 40 to 65 years, inclusive, will be recruited if they have acute episodes of chronic rotator cuff syndrome and/or bursitis. Patients with calcifications in the shoulder joint or a complete rotator cuff tear will be excluded. At least 160 patients will be recruited. All subacromial injections will be performed under ultrasound guidance utilizing a common technique. The only rescue medication permitted will be paracetamol (acetaminophen), with usage recorded. The primary endpoint is change from baseline in abduction-rotation pain visual analog scale (0–100 mm scale, 0 corresponds to no pain and 100 to extreme pain) at day 22 (Traumeel injections versus dexamethasone injections) for active external rotation. Secondary efficacy parameters include range of motion, disability of arm, shoulder, hand score and patient’s/investigator’s global assessment. Clinical efficacy will be assessed as non-inferiority of Traumeel with respect to dexamethasone regarding the primary efficacy parameter.
Discussion
It is hoped that the results of this trial will expand the treatment options and evidence base available for the management of rotator cuff disease.
Trial registration
ClinicalTrials.gov: NCT01702233. EudraCT number: 2012-003393-12.
doi:10.1186/s12891-015-0471-z
PMCID: PMC4320445  PMID: 25649543
Rotator cuff syndrome; Shoulder; Bursitis; Traumeel; Dexamethasone; Corticosteroids; Ultrasound; Injections; Pain
20.  Osteogenic potential of osteoblasts from neonatal rats born to mothers treated with caffeine throughout pregnancy 
Background
Caffeine is an active alkaloid that can cause damage to bones in formation during prenatal life into adulthood. This compound can pass across the placenta and into the mother’s milk, causing a reduction in bone formation, growth and mass. The objective of this study was to examine the osteogenic potential of osteoblasts extracted from neonatal rats born to mothers treated with caffeine throughout pregnancy.
Methods
Twenty-four adult Wistar rats were randomly divided into four groups, consisting of one control group and three groups that were treated with 25, 50, or 100 mg/kg of caffeine by an oral-gastric probe throughout the duration of the experimental period (pregnancy). At birth, three puppies from each dam in each group were euthanized, and osteoblasts were extracted from the calvaria of these pups for in vitro testing.
Results
The osteoblasts extracted from the pups of rats that received 50 mg/kg caffeine during pregnancy exhibited increased expression of osteocalcin, osteopontin, sialoprotein, runx-2, alkaline phosphatase and type I collagen transcripts, resulting in increased synthesis of mineralization nodules.
Conclusions
Neonates from rats treated with 50 mg/kg caffeine during pregnancy contained osteoblasts with a higher osteogenic potential characterized by increased expression of osteocalcin, osteopontin, sialoprotein, runx-2, alkaline phosphatase and type I collagen and increased synthesis of mineralization nodules.
doi:10.1186/s12891-015-0467-8
PMCID: PMC4324429  PMID: 25649420
Osteoblasts; Caffeine; Neonate; Osteogenic differentiation; Rat
21.  The usefulness of bone SPECT/CT imaging with volume of interest analysis in early axial spondyloarthritis 
Background
The role of conventional bone scintigraphy in diagnosing early axial spondyloarthritis (SpA) is yet controversial. Single positron emission computed tomography (SPECT) plus CT is an imaging modality that adds better anatomical information to scintigraphy of the sacroiliac (SI) joint. Our aim was to investigate the usefulness of bone SPECT/CT with volume of interest (VOI) analysis in early axial SpA patients.
Methods
Twenty patients (male: female ratio = 12:8; age range = 17–65 years) presenting with inflammatory back pain meeting the Amor criteria of early axial SpA were recruited from a single center in South Korea. Bone scintigraphy was performed 180 min after intravenous injection of 1110 MBq of Tc-99 m-HDP, followed by bone SPECT/CT. The ratio between the entire SI joint and sacrum (SIS ratio) was measured by both bone SPECT/CT and bone scintigraphy. Data from 13 controls were also evaluated. Receiver operating characteristic (ROC) curve was plotted for further analysis, and the correlation between the SIS ratio and SI joint grade by plain radiography was assessed.
Results
The SIS ratio of early axial SpA patients vs. control subjects was significantly increased in bone SPECT/CT (p < 0.001). However, no significant difference was detected in bone scintigraphy. ROC curve analysis showed a significant difference in the area under curve (AUC) of bone SPECT/CT vs. bone scintigraphy (0.862 vs. 0.523, respectively; p < 0.001). With a cut-off SIS ratio of 1.50, ROC curve analysis showed a sensitivity of 80.0% and specificity of 84.6% in bone SPECT/CT. The SIS ratio measured in SPECT/CT, but not that measured in bone scintigraphy, was significantly increased with a higher grade of SI joint changes in plain radiography (p = 0.014).
Conclusion
Bone SPECT/CT is more useful than conventional bone scintigraphy in identifying sacroiliitis in early axial SpA patients, even with mild SI joint changes in plain radiography. By combining CT, we can accurately delineate the sacrum and SI joint uptake with our VOI method.
doi:10.1186/s12891-015-0465-x
PMCID: PMC4328061  PMID: 25649319
SPECT/CT; Bone scintigraphy; Sacroiliitis; SIS ratio; Axial spondyloarthritis
22.  RFE based chondroplasty in wrist arthroscopy indicates high risk for chrondocytes especially for the bipolar application 
Background
The application of radiofrequency energy (RFE) has become widespread for surgical performed chondroplasty especially due to the anticipated sealing effect, however the safety of this procedure in the wrist remains unclear. The purpose of this study was to investigate the subchondral temperature during radiofrequency energy (RFE) application simulating chondroplasty in an arthroscopic setting of the wrist.
Methods
A chondroplasty of the lunate fossa was performed during an arthroscopy setting on 14 cadaver arms using monopolar or biopolar RFE. The temperature was recorded simultaneously from 7 predefined anatomical landmarks.
Results
The mean temperature for both application modes did not exceed more than 30°C at all measured points, except for the lunate fossa. The highest subchondral measured peak temperature was 49.35°C (monopolar) and 69.21°C (bipolar) in the lunate fossa. In addition, the temperature decreased for both radiofrequency (RF) devices depending on the distance of the sensors to the RF-probe.
Conclusion
It remains to be questionable how safe RFE can be used for chondroplasty in wrist arthroscopy under continuous irrigation and constant movement to obtain the desired sealing effect. However, the bipolar device should be applied with more caution since peak temperature in the lunate fossa almost reached 70°C even under continuous irrigation.
doi:10.1186/s12891-015-0460-2
PMCID: PMC4316647  PMID: 25636383
Temperature; Subchondral; Chondroplasty; RFE; Wrist; Arthroscopy
23.  Clinical and radiological features and skeletal sequelae in childhood intra-/juxta-articular versus extra-articular osteoid osteoma 
Background
To compare the clinical and radiological features of intra-/juxta-articular osteoid osteoma and extra-articular osteoid osteoma in skeletally immature patients, paying special attention to the skeletal complications.
Methods
Osteoid osteoma in 34 children (22 boys and 12 girls, mean age 10.4 years) was dichotomized according to the location of the nidus as intra-/juxta-articular (11 children) or extra-articular (23 children). The following features were compared: diagnostic delay, typical symptoms, synovitis and limited range of joint motion, response to treatment, typical radiographic findings, and skeletal complications.
Results
Eight of the 11 children with intra-/juxta-articular osteoid osteoma presented with synovitis in the involved joint, which led to a delayed diagnosis for a median 9.5 months. Pain disappeared in all children with surgical or medical interventions, but at the mean 4.9-year follow-up evaluation, skeletal abnormalities around the joint were noted in 5 children (4 proximal femur and 1 distal humerus) with intra-/juxta-articular osteoid osteoma, 2 of whom required subsequent surgeries for limited hip motion caused by femoroacetabular impingement and limited range of elbow motion, respectively. In contrast, typical clinical and radiological features were observed more often in extra-articular osteoid osteoma, and only 1 child showed overgrowth of the tibia, which did not have clinical significance.
Conclusions
Intra-/juxta-articular osteoid osteomas in growing children exhibit different clinical and radiological features from extra-articular lesions. Skeletal abnormalities mainly develop in intra-/juxta-articular osteoid osteoma, and these may lead to permanent skeletal sequelae.
doi:10.1186/s12891-015-0456-y
PMCID: PMC4316764  PMID: 25637327
Osteoid osteoma; Clinical feature; Skeletal complication; Children
24.  Incidentally diagnosed melorheostosis of upper limb: case report 
Background
Melorheostosis is quite a rare bone disease with still unclear ethiology. Although multifocal affection is highly debilitating with unfavorable prognosis, there is no clear consensus about therapeutical approach. There is still insufficient evidence in the literature for almost a century after the first description.
Affected bone has a typical appearance of melting wax. Diagnosis is usually incidental with pain as a leading symptom. Diagnosis itself is relatively easy, routine X-ray examination is sufficient. Even though it could be easily overlooked and mistaken with other diseases. Melorheostosis is incurable, the therapy is mostly focused on maintaining patient quality of life.
Presented case is unique in terms of extent of the affection (index finger, metacarp shaft, carpal bones, forearm, humerus and whole scapula) in combination with osteopoikilotic islands in other 3 regions (vertebrae, manubrium sterni and left collar bone). Currently there is only one such a case published in the literature (Campbell), but without osteopoikilotic islands.
Case presentation
Melorheostosis was diagnosed in 26-year old female after injury as an incidental finding. This was quite surprising as the patient already suffered by limited movement in the upper limb and pain before the injury. Detailed examination were performed to confirm the diagnosis, no family history was found. Pharmacotherapy with bisphosphonates, non-steroidal antirheumatics and vasodilatans/rheologic drugs seemed to be effective to maintain the relatively good quality of patient life and good performance in daily routine. Questionable is further development of patient performance status and sustainability of conservative treatment in the long term follow up.
Conclusion
Conservative treatment with bisphopshonates and COX-2 inhibitors in combination with naftidrofuryl can delay surgery solution.
doi:10.1186/s12891-015-0455-z
PMCID: PMC4320463  PMID: 25637225
Melorheostosis; Melting wax; Joint contracture; Swelling; Osteopoikilotic islands; Bisphosphonates; COX2-inhibitors
25.  Wrist flexion and extension torques measured by highly sensitive dynamometer in healthy subjects from 5 to 80 years 
Background
Wrist movements become impaired with disease progression in various neuromuscular disorders. With the development of new therapies, thorough measurement of muscle strength is crucial to document natural disease progression and to assess treatment efficacy. We developed a new dynamometer enabling wrist flexion and extension torque measurement with high sensitivity. The aims of the present study were to collect norms for healthy children and adults, to compute predictive equations, to assess the reliability of the measurements and to test the feasibility of using the device in patients with a neuromuscular disease.
Methods
The peak isometric torque of wrist flexion and extension was measured with the MyoWrist dynamometer in 345 healthy subjects aged between 5 and 80 years old and in 9 patients with limb girdle muscle dystrophy type 2 C (LGMD2C) aged between 16 and 38 years old.
Results
Predictive equations are proposed for the wrist flexion and extension strength in children and adults. Intra-rater and inter-rater reliability was good with ICCs higher than 0.9 for both wrist flexion and extension. However, retest values were significantly higher by 4% than test results. The dynamometer was applied with no difficulty to patients with LGMD2C and was sensitive enough to detect strength as weak as 0.82 N.m. From our models, we quantified the mean strength of wrist extension in LGMD2C patients to 39 ± 17% of their predicted values.
Conclusions
The MyoWrist dynamometer provides reliable and sensitive measurement of both wrist flexion and extension torques. However, a training session is recommended before starting a study as a small but significant learning effect was observed. Strength deficit can be quantified from predictive equations that were computed from norms of healthy children and adults.
doi:10.1186/s12891-015-0458-9
PMCID: PMC4322806  PMID: 25636264
Wrist muscle strength; Norms; Predictive model; Outcome measures

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