Recurrent FOSL1 rearrangements in desmoplastic fibroblastoma.

The FOS gene family has been implicated in tumourigenesis across several tumour types, particularly mesenchymal tumours. The rare fibrous tumour desmoplastic fibroblastoma is characterised by overexpression of FOSL1. However, previous studies using cytogenetic and molecular techniques did not identify an underlying somatic change involving the FOSL1 gene to explain this finding. Prompted by an unusual index case, we report the discovery of a novel FOSL1 rearrangement in desmoplastic fibroblastoma using whole-genome and targeted RNA sequencing. We investigated 15 desmoplastic fibroblastomas and 15 fibromas of tendon sheath using immunohistochemistry, in situ hybridisation and targeted RNA sequencing. Rearrangements in FOSL1 and FOS were identified in 10/15 and 2/15 desmoplastic fibroblastomas respectively, which mirrors the pattern of FOS rearrangements observed in benign bone and vascular tumours. Fibroma of tendon sheath, which shares histological features with desmoplastic fibroblastoma, harboured USP6 rearrangements in 9/15 cases and did not demonstrate rearrangements in any of the four FOS genes. The overall concordance between FOSL1 immunohistochemistry and RNA sequencing results was 90%. These findings illustrate that FOSL1 and FOS rearrangements are a recurrent event in desmoplastic fibroblastoma, establishing this finding as a useful diagnostic adjunct and expanding the spectrum of tumours driven by FOS gene family alterations. © 2022 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland.

Ligament Reconstruction and Interposition Arthroplasty of the Acromioclavicular Joint.

Distal clavicle excision (DCE) for acromioclavicular (AC) joint primary osteoarthritis and post-traumatic arthritis has been shown to have good to excellent outcomes. However, there are studies that report significant rates of residual AC joint pain and distal clavicle instability after open and arthroscopic techniques. We describe a surgical technique for management of AC joint primary osteoarthritis, post-traumatic arthritis, and revision DCE that involves DCE with ligament reconstruction and tendon interposition arthroplasty. It provides distal clavicle stability and can theoretically reduce residual AC joint pain secondary to acromial abutment after DCE.

The effect of single-dose, preoperative intravenous tranexamic acid on early postoperative pain scores after rotator cuff repair: a double-blind, randomized controlled trial.

BACKGROUND: Tranexamic acid (TXA) is commonly used in upper and lower limb arthroplasty to limit blood loss and postoperative hematoma formation. The role of TXA in rotator cuff repair (RCR) surgery is less defined. This trial assessed the effect of preoperative TXA on early postoperative pain scores. METHODS: A randomized double-blind trail was conducted in 89 patients undergoing RCR. Patients were randomized to either 2 g of intravenous TXA or placebo at induction. The primary outcome was visual analog scale (VAS)-pain score at day 3 postoperation, with secondary outcomes including VAS-pain, American Shoulder and Elbow Surgeons Standardized Shoulder Assessment Form (ASES), and Constant scores at 2, 8, 24, and 52 weeks. RESULTS: There was no significant difference in VAS-pain scores between groups at day 3 postoperation. Pain scores were significantly better in the TXA group at 8 weeks. There was no difference between groups at any time point in the ASES or Constant score. The TXA group had improved motion at 6 months with a reduced rate of secondary adhesive capsulitis. CONCLUSION: TXA did not improve postoperative pain scores after RCR, however, patients who received the intervention demonstrated greater range of motion at 6 months with lower rates of secondary adhesive capsulitis.

Distal humerus hemiarthroplasty for trauma: a systematic review of the outcomes and complications.

BACKGROUND: In patients with distal humerus fractures that are unreconstructible, total elbow arthroplasty is an established alternative to open reduction-internal fixation. Distal humerus hemiarthroplasty is a further alternative to avoid the significant lifestyle limitations associated with total elbow arthroplasty. Distal humerus hemiarthroplasty is an increasingly popular treatment option for unreconstructible distal humeral fractures not amenable to reconstruction. The aim of this systematic review was to assess the literature regarding the functional outcomes and complications of the use of distal humerus hemiarthroplasty for acute trauma. METHODS: A systematic review of the PubMed, Embase, and Scopus databases was performed. The search terms included "distal humerus fracture" OR "elbow fracture" AND "hemiarthroplasty" OR "arthroplasty" OR "replacement." Studies were limited to those published in the English language with reported functional outcome measures and complications. Patient demographic characteristics, implant systems, clinical outcomes (range of motion and functional outcome scores), and complications were extracted. RESULTS: Thirteen studies with a total of 207 patients met the inclusion criteria. The average age ranged from 44 to 79 years, with the mean length of follow-up ranging from 11 to 82 months postoperatively. A mean range-of-motion arc ≥ 93° was achieved in all studies, with 11 of 13 studies achieving mean functional range of motion ≥ 100°. All studies reported good to excellent mean outcome scores. Heterotopic ossification, ulnar cartilage wear, stiffness, and ulnar neuropathy were the most commonly encountered complications. The reoperation rate and revision rate were 17% and 3%, respectively. CONCLUSIONS: Distal humerus hemiarthroplasty is a viable option in the treatment of unreconstructible distal humerus fractures, with good to excellent outcomes expected. Long-term outcome data and the use of distal humerus hemiarthroplasty in younger patients are yet to be fully defined.

A Prospective Review of a Novel Electronic Journal Club Format in an Orthopedic Residency Unit.

INTRODUCTION: Journal clubs are useful for teaching critical appraisal skills and maintaining contemporary knowledge in orthopedics. The didactic format is most common; however, work commitments can pose difficulty in full attendance. Also with the current legislative working time restrictions for residents in Europe and North America, work and training time require separation with times that may not suit all attendees. Online forums such as "Twitter" have recently been used to accommodate various journal clubs. We aimed to establish a journal club using smartphone messaging application "WhatsApp" to discuss key orthopedic papers and teach critical appraisal skills to residents. DESIGN: A prospective cohort study including all residents and attendings in the department. A research practice questionnaire, the "Evidence-based Practice Questionnaire" and a 28-question MCQ on research methods from the American Academy of Orthopedic Surgeons resident question database was completed by all participants prior to the study. A paper was uploaded each Friday, and discussed the following Tuesday through Friday for 6 consecutive weeks. The original questionnaire and MCQs were again completed after the 6-week study period. SETTING: A Trauma & Orthopedic residency unit. PARTICIPANTS: All orthopedic residents, from PGY1-4 and attendings. RESULTS: An average of 22 questions were asked (min 13, max 28), and 55 responses per week (min 30, max 88). In the EBPQ questionnaire, an example question of "how often you critically appraised a paper you have discovered" improved from an average score of 2.45 to 5.4. Self-rating of research skills improved from a score of 3.27 to 5.9. MCQ scores improved from an average of 48.2% among the group to 69%. CONCLUSIONS: Residents' critical appraisal skills were improved while providing adequate time and flexibility to reflect on questions. Subspecialty topic discussions led by attendings, stimulated discussion of clinical pearls of interest to all participants. The simplicity of this method, and its widespread availability potentiates the implementation by any specialty looking to educate its residents.

Displaced Salter-Harris I fracture of the distal ulna physis.

A 10-year-old girl presented to the emergency department having sustained a fall onto an outstretched left hand while playing soccer. Clinical and radiographical assessment identified a Salter-Harris I distal ulna fracture, as well as a buckle fracture of the distal radius. The injury was closed, and she had no neurovascular deficits on examination. She was brought to the operating theatre the following morning for closed reduction under general anaesthesia. Image intensification was used to confirm anatomical reduction, and an above-elbow moulded plaster-of-paris cast was applied. Follow-up clinical assessment at 6 weeks confirmed healing of the fracture, and she proceeded to make a full recovery. This case describes the anatomy and physiology of such rare injuries and outlines treatment principles and potential pitfalls based on best available evidence.

Satisfaction of the Irish Trauma and Orthopaedic training programme with the Intercollegiate Surgical Curriculum Programme.

BACKGROUND: Surgical training has undergone extensive changes in recent years. The Intercollegiate Surgical Curriculum Programme (ISCP) has been utilised in the UK for many years to facilitate the education and assessment of trainees. It was adopted by the Irish Trauma and Orthopaedics (T&O) training programme in July 2015. This study sought to evaluate the use satisfaction with ISCP in the Irish context. METHODS: A total of 58 T&O trainers and trainees undertook a paper-based survey during national training days in March and April 2017. RESULTS: Eighty-nine percent of trainees responded to the survey along with 85% of trainers. Seventy-nine percent of respondents had been using ISCP for over a year. Most aspects of ISPC were rated as average, with the induction process, online multi-source feedback (MSF) and overall user friendliness rating poorly amongst respondents. Seventeen percent felt that ISCP had a positive impact on training, while 66% felt that it did not adversely affect their training opportunities. Forty-three percent reported a negative impact on the trainer-trainee relationship with adoption of ISCP and only 24% felt that the educational feedback was improved with the new system. Forty-two percent agreed that ISCP created a more structured and supervised framework to the training scheme. CONCLUSIONS: Our survey demonstrated significant concerns and reservations amongst the Irish users of ISCP. The demonstrable level of trainee dissatisfaction with ISCP may represent a frustration that key problems such as the regulated training content of jobs remains unaddressed while ISCP does little to improve meaningful formative feedback.

Hip Hemiarthroplasty in Neurologic or Cognitively Impaired Patients: A Case Series of Post-operative Dislocations.

INTRODUCTION: Hemiarthroplasty is the operation of choice for displaced intracapsular neck of femur fracture in elderly patients with low physical demands. Dislocation in this frail patient cohort can have devastating consequences. The patients with neurological and cognitive impairment are at additional risk secondary to imbalance of muscle tone and a reduced ability to engage with rehabilitation. CASE REPORT: We present three cases of early post-operative dislocation of hip hemiarthroplasties, all of whom suffered from neurological and cognitive impairment, and highlight the uncontrollable patient factors that contributed to dislocation. CONCLUSION: The posterior approach was associated with all cases of dislocation in patients who also were neurologic or cognitively impaired. Posterior approach is safe to perform in the general population for hip hemiarthroplasty; however, the surgeon should consider avoiding the use of the posterior approach in this high-risk group.

Periprosthetic hip fractures: A review of the economic burden based on length of stay.

INTRODUCTION: With the increasing rates of total hip replacements being performed worldwide, there is an increasing incidence of periprosthetic fractures. As our patients' demographics change to include older patients with multiple medical co-morbidities, there is a concurrent increase in morbidity and mortality rates. This leads to longer hospital stays and increasing hospital costs. In the current economic climate, the cost of treating periprosthetic fractures must be addressed and appropriate resource and funding allocation for future provision of services should be planned. MATERIALS AND METHODS: All periprosthetic hip fractures that were admitted to a single trauma unit over a three-year period were reviewed. Independent chart review, haematological and radiological review was undertaken. All patients with a periprosthetic fracture associated with a total hip arthroplasty or hemiarthroplasty were included. Follow up data including complications were collated. Data from the hospital inpatient database and finance department was utilized for cost analysis. All statistical analysis was preformed using Minitab version 17. RESULTS: 48 patients were identified who met the inclusion criteria for review. The majority of participants were female with a mean age of 73.5 years. The mean time to fracture was 4.5 years (9 months-18.5 years). Periprosthetic fracture was associated with total hip arthroplasty in 24 cases and a Vancouver B2 classification was most common at n = 20. The majority of patients had revision arthroplasty, with a mean length of stay of 24 days for the whole cohort (9-42). Vancouver B3 fractures had the longest inpatient stay at a mean of 26 days. The mean cost of for a full revision of stem with additional plate and cable fixation was over €27000 compared to €14,600 for ORIF and cable fixation based on length of hospital stay. CONCLUSION: The prolonged length of stay associated with Vancouver B2 and B3 fractures leads to increased costs to the healthcare service. Accurately calculating the costs of total treatment for periprosthetic fractures is difficult due to a lack of transparency around implant and staffing costs. However, as we can expect increasing incidence of periprosthetic fractures presenting in the coming years it is paramount that we make financial provisions within healthcare budgets to ensure we can treat these patients appropriately.

Total Hip Replacement Revision in a Single Brand Small Cementless Stem - Our Experience after the Findings of the National Joint Registry.

BACKGROUND: Cementless total hip replacement is the common THR performed in England, Wales, Northern Ireland and the Isle of Man. The Corail stem is the most popular cementless implant and has a ODEP 10A rating. Review of its performance in the registry identified an increase rate of revision amongst the smaller stem sizes. However, clarity was not provided on the explanation for this finding. We reviewed our own experience of smaller stems with a view to understanding the reasons for revision. METHODS: We reviewed a single centre, single surgeon experience of the smaller Corail stem sizes for a ten-year period from 2003 to 2013. All data was collected from a prospectively maintained database. Details of clinical and radiological follow up were collected for all patients who had Corail stem size 8 and 9 implanted. Revision for any cause was taken as our endpoint. RESULTS: 542 patients underwent total hip arthroplasty using the Corail stem during the study period. 53 small size Corail stems were implanted. The average age was 59 (range 17-88 years) and the average follow up was 41.4 months (range 1-118 months). 6 patients underwent revision during the study period, but only 4 stems required revision. The reasons for revision were aseptic loosening, fracture and metal-on metal complications. Only two stems required revision for stem related factors (3.8%). CONCLUSION: There was no evidence of an increased rate of revision in the small Corail stems in our cohort.

Sternal metastasis - the forgotten column and its effect on thoracic spine stability.

Sternal metastases are not studied extensively in the literature. There is a paucity of information on their role in metastatic disease. The concept of the fourth column was described by Berg in 1993, and has been proven in case report, clinically and biomechanical studies. The role of the sternum as a support to the thoracic spine is well documented in the trauma patients, but not much is known about its role in cancer patients. This review examines what is known on the role of the fourth column. Following this we have identified two likely scenarios that sternal metastases may impact management: (1) sternal pathological fracture increases the mobility of the semi-rigid thorax with the loss of the biomechanical support of the sternum-rib-thoracic spine complex; and (2) a sternal metastasis increases the risk of fracture, and while being medical treated the thoracic spine should be monitored for acute kyphosis and neurological injury secondarily to the insufficiency of the fourth column.

Spinal Metastatic Disease: A Review of the Role of the Multidisciplinary Team.

Historically, a simple approach centered on palliation was applicable to the majority of patients with metastatic spinal disease. With advances in diagnosis and treatment, a more complicated algorithm has devolved requiring a multidisciplinary approach with institutional commitment and support. We performed a database review including pertinent articles exploring the multidisciplinary management of spinal metastatic disease. The wide variation in clinical presentation and tumor response to treatment necessitates a multidisciplinary approach that integrates the diagnosis and treatment of the cancer, symptom management, and rehabilitation for optimal care of patients with spinal metastases. Advances in the field of radiology have led to earlier and more focused diagnosis of spinal metastasis and acts to guide therapy. Advances in surgical techniques, neurophysiologic monitoring, and anesthetic expertise have allowed surgeons to perform more extensive procedures leading to improved outcomes and reduced morbidity. Radiation oncology input that is essential as external beam radiation therapy can provide significant pain relief. Non-operative measures may include bisphosphonate infusions, management of complications (e.g. hypercalcemia of malignancy), monoclonal antibody infusions, and chemotherapy if indicated in the treatment of the primary malignancy. Input from psychology services is necessary to address the biopsychosocial ramifications of spinal metastasis. Allied health professionals in the form of physiotherapists, social workers, and dieticians also contribute in maximizing patients' quality of life and well-being.

Heterotopic Ossification following acetabular fixation: Incidence and risk factors: 10-year experience of a tertiary centre.

BACKGROUND: Heterotopic Ossification (HO) is a well-recognized complication following acetabular fracture fixation and its presence is prognostic for suboptimal clinical outcome. There are many controversies pertaining to its aetiology, including surgical approach, associated injuries and the use of HO prophylaxis. Long term data from high volume centres is necessary to address these issues. AIM: To determine the incidence of HO post open reduction and internal fixation (ORIF) of acetabular fractures and to examine the associated risk and prognostic factors. METHOD: We studied a cohort of 369 consecutive acetabular fractures that underwent ORIF at our institution over a 10 year period. Data was analyzed using univariate and multivariate logistic regression. RESULTS: The existence of HO was evident in 65 patients (17.62%), of these 39 (60.0%) were Class I, 16 (24.6%) were Class II, 8 (12.3%) were Class III, and 2 (3.1%) were Class IV according to Brooker Classification. We found a significant association between admission to an Intensive Care Unit (ICU) (P-value=0.039), chest injury (P-value=0.013), multiple fractures (P-value=0.005), and the time lapse between injury and operation (P-value=0.025), and some statistical significance with surgical approach, ipsilateral fractures, open fractures, tibial and patellar fractures. Age over 30 years as the only prognostic factor for severe HO. Prophylaxis with Indomethacin did not appear to confer any benefit in our patient group. CONCLUSION: The risk factors for developing HO following acetabular fracture fixation are multifactorial and include admission to ICU, associated chest injuries, multiple fractures and delay between injury and surgery. Surgical approach, ipsilateral fractures and tibia and patellar fractures may also play a role. Age over thirty years was the only prognostic factor for developing severe HO.

Dasatinib as a treatment for Duchenne muscular dystrophy.

Identification of a systemically acting and universal small molecule therapy for Duchenne muscular dystrophy would be an enormous advance for this condition. Based on evidence gained from studies on mouse genetic models, we have identified tyrosine phosphorylation and degradation of ß-dystroglycan as a key event in the aetiology of Duchenne muscular dystrophy. Thus, preventing tyrosine phosphorylation and degradation of ß-dystroglycan presents itself as a potential therapeutic strategy. Using the dystrophic sapje zebrafish, we have investigated the use of tyrosine kinase and other inhibitors to treat the dystrophic symptoms in this model of Duchenne muscular dystrophy. Dasatinib, a potent and specific Src tyrosine kinase inhibitor, was found to decrease the levels of ß-dystroglycan phosphorylation on tyrosine and to increase the relative levels of non-phosphorylated ß-dystroglycan in sapje zebrafish. Furthermore, dasatinib treatment resulted in the improved physical appearance of the sapje zebrafish musculature and increased swimming ability as measured by both duration and distance of swimming of dasatinib-treated fish compared with control animals. These data suggest great promise for pharmacological agents that prevent the phosphorylation of ß-dystroglycan on tyrosine and subsequent steps in the degradation pathway as therapeutic targets for the treatment of Duchenne muscular dystrophy.

Iliopsoas tendon rupture: a new differential for atraumatic groin pain post-total hip arthroplasty.

Groin pain post-total hip arthroplasty (THA) is of concern for the patient and the surgeon, especially when there is no history of any traumatic event. Obvious concern centres on complications from the prosthesis. The use of multiple imaging modalities allow for accurate diagnosis of groin pain. Atraumatic iliopsoas rupture is rare and has only been reported once before in the setting of THA. We present the case of 53-year old female with atraumatic rupture of the iliopsoas tendon that presented with severe groin pain and limited flexion. We discuss the clinical presentation, radiological features and follow-up of the patient. We also discuss the relevant published literature on the topic. This is a rare phenomenon but should be consider in patients with groin pain post-THA, especially after prosthesis complications have been ruled out.

Preventing phosphorylation of dystroglycan ameliorates the dystrophic phenotype in mdx mouse.

Loss of dystrophin protein due to mutations in the DMD gene causes Duchenne muscular dystrophy. Dystrophin loss also leads to the loss of the dystrophin glycoprotein complex (DGC) from the sarcolemma which contributes to the dystrophic phenotype. Tyrosine phosphorylation of dystroglycan has been identified as a possible signal to promote the proteasomal degradation of the DGC. In order to test the role of tyrosine phosphorylation of dystroglycan in the aetiology of DMD, we generated a knock-in mouse with a phenylalanine substitution at a key tyrosine phosphorylation site in dystroglycan, Y890. Dystroglycan knock-in mice (Dag1(Y890F/Y890F)) had no overt phenotype. In order to examine the consequence of blocking dystroglycan phosphorylation on the aetiology of dystrophin-deficient muscular dystrophy, the Y890F mice were crossed with mdx mice an established model of muscular dystrophy. Dag1(Y890F/Y890F)/mdx mice showed a significant improvement in several parameters of muscle pathophysiology associated with muscular dystrophy, including a reduction in centrally nucleated fibres, less Evans blue dye infiltration and lower serum creatine kinase levels. With the exception of dystrophin, other DGC components were restored to the sarcolemma including α-sarcoglycan, α-/ß-dystroglycan and sarcospan. Furthermore, Dag1(Y890F/Y890F)/mdx showed a significant resistance to muscle damage and force loss following repeated eccentric contractions when compared with mdx mice. While the Y890F substitution may prevent dystroglycan from proteasomal degradation, an increase in sarcolemmal plectin appeared to confer protection on Dag1(Y890F/Y890F)/mdx mouse muscle. This new model confirms dystroglycan phosphorylation as an important pathway in the aetiology of DMD and provides novel targets for therapeutic intervention.

MRICOM-MRI COntrast Modelling using 2D T1-T2 correlation spectra and relaxation signatures.

Image contrast is calculated by inputting experimental 2D T(1)-T(2) relaxation spectra into the ODIN software interface. The method involves characterising a magnetic resonance imaging pulse sequence with a "relaxation signature" which describes the sensitivity of the sequence to relaxation and is independent of sample parameters. Maximising (or minimising) the overlap between the experimental 2D T(1)-T(2) relaxation spectra and the relaxation signature can then be used to maximise image contrast. The concept is illustrated using relaxation signatures for the echo planar imaging and Turbo spin-echo imaging sequences, together with in-vitro 2D T(1)-T(2) spectra for liver and cartilage.