Introduction. There is widespread variation in the management of rare orthopaedic disease, in a large part owing to uncertainty. No individual surgeon or hospital is typically equipped to amass sufficient numbers of cases to draw robust conclusions from the information available to them. The programme of research will establish the British Orthopaedic Surgery Surveillance (BOSS) Study; a nationwide reporting structure for rare disease in orthopaedic surgery. Methods. The BOSS Study is a series of nationwide observational cohort studies of pre-specified orthopaedic disease. All relevant hospitals treating the disease are invited to contribute anonymised case details. Data will be collected digitally through REDCap, with an additional bespoke software solution used to regularly confirm case ascertainment, prompt follow-up reminders and identify potential missing cases from external sources of information (i.e. national administrative data). With their consent, patients will be invited to enrich the data collected by supplementing anonymised case data with patient reported outcomes. The study will primarily seek to calculate the incidence of the rare diseases under investigation, with 95% confidence intervals. Descriptive statistics will be used to describe the case mix, treatment variations and outcomes. Inferential statistical analysis may be used to analyze associations between presentation factors and outcomes. Types of analyses will be contingent on the disease under investigation. Discussion. This study builds upon other national rare disease supporting structures, particularly those in obstetrics and paediatric surgery. It is particularly focused on addressing the evidence base for quality and safety of surgery, and the design is influenced by the specifications of the IDEAL collaboration for the development of surgical research

The ability to edit DNA at the nucleotide level using clustered regularly interspaced short palindromic repeats (CRISPR) systems is a relatively new investigative tool that is revolutionizing the analysis of many aspects of human health and disease, including orthopaedic disease. CRISPR, adapted for mammalian cell genome editing from a bacterial defence system, has been shown to be a flexible, programmable, scalable, and easy-to-use gene editing tool. Recent improvements increase the functionality of CRISPR through the engineering of specific elements of CRISPR systems, the discovery of new, naturally occurring CRISPR molecules, and modifications that take CRISPR beyond gene editing to the regulation of gene transcription and the manipulation of RNA. Here, the basics of CRISPR genome editing will be reviewed, including a description of how it has transformed some aspects of molecular musculoskeletal research, and will conclude by speculating what the future holds for the use of CRISPR-related treatments and therapies in clinical orthopaedic practice. Cite this article: Bone Joint Res 2020;9(7):351–359

Aims. Metabolic profiling is a top-down method of analysis looking at metabolites, which are the intermediate or end products of various cellular pathways. Our primary objective was to perform a systematic review of the published literature to identify metabolites in human synovial fluid (HSF), which have been categorized by metabolic profiling techniques. A secondary objective was to identify any metabolites that may represent potential biomarkers of orthopaedic disease processes. Methods. A systematic review was conducted in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines using the MEDLINE, Embase, PubMed, and Cochrane databases. Studies included were case series, case control series, and cohort studies looking specifically at HSF. Results. The primary analysis, which pooled the results from 17 published studies and four meeting abstracts, identified over 200 metabolites. Seven of these studies (six published studies, one meeting abstract) had asymptomatic control groups and collectively suggested 26 putative biomarkers in osteoarthritis, inflammatory arthropathies, and trauma. These can broadly be categorized into amino acids plus related metabolites, fatty acids, ketones, and sugars. Conclusion. The role of metabolic profiling in orthopaedics is fast evolving with many metabolites already identified in a variety of pathologies. However, these results need to be interpreted with caution due to the presence of multiple confounding factors in many of the studies. Future research should include largescale epidemiological metabolic profiling studies incorporating various confounding factors with appropriate statistical analysis to account for multiple testing of the data. Cite this article:Bone Joint Res. 2020;9(3):108–119

Magnetic resonance images (MRI) were obtained of 10 healthy volunteers and 70 patients suffering from various orthopaedic disorders. Selected images of soft tissue, joint, bone and spinal abnormalities are presented and their interpretation is described. Although we have been using MRI for only a very short time, it is already possible to see its advantages: it provides good images of soft-tissues, detailed pictures of bone marrow, and excellent visualisation of the spine and spinal cord. The decision-making process in surgical procedures will in the future be influenced by this technique

A treatment regime using electrical stimulation in association with a variety of surgical procedures has improved the prognosis in congenital pseudarthrosis of the tibia--one of the most challenging of all orthopaedic disorders. The technique consists of correction of the tibial deformity, intramedullary fixation and cancellous bone grafting, augmented by electrical stimulation using an implanted bone-growth stimulator. Experience with 27 pseudarthroses in 25 patients is presented; of those, 20 have joined. The cases have been reviewed and the causes of failure analysed. These results offer encouragement to the orthopaedic surgeon treating this difficult condition

In vitro studies on isolated bone cells were undertaken to investigate the presence of transplantation (histocompatibility) antigens. Bone cells were cultured with allogeneic lymphocytes and exposed to cytotoxic sera containing antibodies against transplantation antigens, to determine their antigenic profile. Preliminary results suggest that bone cells may not express lymphocyte stimulating antigens in an active form, at least after the isolation procedure performed. On the other hand, bone cells were killed by cytotoxic antibodies in a specific way, providing evidence for the presence of serologically defined (SD) transplantation antigens on the cell surface. Additional studies with absorbed sera suggest "sharing" of histocompatibility antigens between bone cells and lymphocytes. The relevance of the surface antigens of bone cells to clinical fields such as bone allotransplantation, susceptibility to various orthopaedic diseases and skeletal sarcomata is discussed

Aims

The aim of this study was to produce clinical consensus recommendations about the non-surgical treatment of children with Perthes’ disease. The recommendations are intended to support clinical practice in a condition for which there is no robust evidence to guide optimal care.

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Lumbar spinal stenosis (LSS) is a common skeletal system disease that has been partly attributed to genetic variation. However, the correlation between genetic variation and pathological changes in LSS is insufficient, and it is difficult to provide a reference for the early diagnosis and treatment of the disease.

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We investigated the prevalence of late developmental dysplasia of the hip (DDH), abduction bracing treatment, and surgical procedures performed following the implementation of universal ultrasound screening versus selective ultrasound screening programmes.

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It is well described that patients with bone and joint infections (BJIs) commonly experience significant functional impairment and disability. Published literature is lacking on the impact of BJIs on mental health. Therefore, the aim of this study was to assess health-related quality of life (HRQoL) and the impact on mental health in patients with BJIs.

Aims

The aim of this study was to identify the information topics that should be addressed according to the parents of children with developmental dysplasia of the hip (DDH) in the diagnostic and treatment phase during the first year of life. Second, we explored parental recommendations to further optimize the information provision in DDH care.

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The aim of this study was to report a complete overview of both incidence, fracture distribution, mode of injury, and patient baseline demographics of paediatric distal forearm fractures to identify age of risk and types of activities leading to injury.

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Perthes’ disease is an uncommon hip disorder with limited data on the long-term outcomes in adulthood. We partnered with community-based foundations and utilized web-based survey methodology to develop the Adult Perthes Survey, which includes demographics, childhood and adult Perthes’ disease history, the University of California Los Angeles (UCLA) Activity Scale item, Short Form-36, the Hip disability and Osteoarthritis Outcome Score, and a body pain diagram. Here we investigate the following questions: 1) what is the feasibility of obtaining > 1,000 survey responses from adults who had Perthes’ disease using a web-based platform?; and 2) what are the baseline characteristics and demographic composition of our sample?

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The aim of this study was to explore the genetic correlation and causal relationship between blood plasma proteins and rheumatoid arthritis (RA).

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There is evidence that morbidly obese patients have more intra- and postoperative complications and poorer outcomes when undergoing total hip arthroplasty (THA) with the direct anterior approach (DAA). The aim of this study was to determine the efficacy of DAA for THA, and compare the complications and outcomes of morbidly obese patients with nonobese patients.

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In wound irrigation, 1 mM ethylenediaminetetraacetic acid (EDTA) is more efficacious than normal saline (NS) in removing bacteria from a contaminated wound. However, the optimal EDTA concentration remains unknown for different animal wound models.

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Proliferation, migration, and differentiation of anterior cruciate ligament (ACL) remnant and surrounding cells are fundamental processes for ACL reconstruction; however, the interaction between ACL remnant and surrounding cells is unclear. We hypothesized that ACL remnant cells preserve the capability to regulate the surrounding cells’ activity, collagen gene expression, and tenogenic differentiation. Moreover, extracorporeal shock wave (ESW) would not only promote activity of ACL remnant cells, but also enhance their paracrine regulation of surrounding cells.

Aims

Slipped capital femoral epiphysis (SCFE) is one of the most common hip diseases of adolescence that can cause marked disability, yet there is little robust evidence to guide treatment. Fundamental aspects of the disease, such as frequency, are unknown and consequently the desire of clinicians to undertake robust intervention studies is somewhat prohibited by a lack of fundamental knowledge.

Talonavicular and subtalar joint fusion through a medial incision (modified triple arthrodesis) has become an increasingly popular technique for treating symptomatic flatfoot deformity caused by posterior tibial tendon dysfunction.

The purpose of this study was to look at its clinical and radiological mid- to long-term outcomes, including the rates of recurrent flatfoot deformity, nonunion and avascular necrosis of the dome of the talus.

A total of 84 patients (96 feet) with a symptomatic rigid flatfoot deformity caused by posterior tibial tendon dysfunction were treated using a modified triple arthrodesis. The mean age of the patients was 66 years (35 to 85) and the mean follow-up was 4.7 years (1 to 8.3). Both clinical and radiological outcomes were analysed retrospectively.

In 86 of the 95 feet (90.5%) for which radiographs were available, there was no loss of correction at final follow-up. In all, 14 feet (14.7%) needed secondary surgery, six for nonunion, two for avascular necrosis, five for progression of the flatfoot deformity and tibiotalar arthritis and one because of symptomatic overcorrection. The mean American Orthopaedic Foot and Ankle Society Hindfoot score (AOFAS score) at final follow-up was 67 (between 16 and 100) and the mean visual analogue score for pain 2.4 points (between 0 and 10).

In conclusion, modified triple arthrodesis provides reliable correction of deformity and a good clinical outcome at mid- to long-term follow-up, with nonunion as the most frequent complication. Avascular necrosis of the talus is a rare but serious complication of this technique.

Cite this article: Bone Joint J 2015; 97-B:668–74.

Objectives

The development of tibiofemoral angle in children has shown ethnic variations. However this data is unavailable for our population.

This editorial examines the influence of the National Institute for Clinical Excellence (NICE) on the conduct of orthopaedic surgery. It proffers criticism and suggests ways of improvement.

We retrospectively reviewed 26 patients who underwent reconstruction of the shoulder for a medial rotation contracture after birth injury of the brachial plexus. Of these, 13 patients with a mean age of 5.8 years (2.8 to 12.9) received an injection of botulinum toxin type A into the pectoralis major as a surgical adjunct. They were matched with 13 patients with a mean age of 4.0 years (1.9 to 7.2) who underwent an identical operation before the introduction of botulinum toxin therapy to our unit.

Pre-operatively, there was no significant difference (p = 0.093) in the modified Gilbert shoulder scores for the two groups. Post-operatively, the patients who received the botulinum toxin had significantly better Gilbert shoulder scores (p = 0.012) at a mean follow-up of three years (1.5 to 9.8).

It appears that botulinum toxin type A produces benefits which are sustained beyond the period for which the toxin is recognised to be active. We suggest that by temporarily weakening some of the power of medial rotation, afferent signals to the brain are reduced and cortical recruitment for the injured nerves is improved.