Epidemiology, aetiology, interventions and genomics in children with arthrogryposis multiplex congenita: protocol for a multisite registry.

INTRODUCTION: Arthrogryposis multiplex congenita (AMC) is an umbrella term including hundreds of conditions with the common clinical manifestation of multiple congenital contractures. AMC affects 1 in 3000 live births and is caused by lack of movement in utero. To understand the long-term needs of individuals diagnosed with a rare condition, it is essential to know the prevalence, aetiology and functional outcomes in a large sample. The development and implementation of a multicentre registry is critical to gather this data. This registry aims to improve health through genetic and outcomes research, and ultimately identify new therapeutic targets and diagnostics for treating children with AMC. METHODS AND ANALYSIS: Participants for the AMC registry will be recruited from seven orthopaedic hospitals in North America. Enrollment occurs in two phases; Part 1 focuses on epidemiology, aetiology and interventions. For this part, retrospective and cross-sectional data will be collected using a combination of patient-reported outcomes and clinical measures. Part 2 focuses on core subset of the study team, including a geneticist and bioinformatician, identifying causative genes and linking the phenotype to genotype via whole genome sequencing to identify genetic variants and correlating these findings with pedigree, photographs and clinical information. Descriptive analyses on the sample of 400 participants and logistic regression models to evaluate relationships between outcomes will be conducted. ETHICS AND DISSEMINATION: Ethical approval has been granted from corresponding governing bodies in North America. Dissemination of findings will occur via traditional platforms (conferences, manuscripts) for the scientific community. Other modalities will be employed to ensure that all stakeholders, including youth, families and patient support groups, may be provided with findings derived from the registry. Ensuring the findings are circulated to a maximum amount of interested parties will ensure that the registry can continue to serve as a platform for hypothesis-driven research and further advancement for AMC.

Humerus Lengthening with a Motorized Intramedullary Nail: A Systematic Review of Outcomes and Complications.

Aim: In the past decade, internal limb lengthening nails have gained popularity. In this study, we aim to systematically review the literature on humerus limb lengthening with a motorized intramedullary nail (MIN). We intend to assess the outcome and complications of this technique. Materials and methods: A systematic review was performed in the following databases: PubMed, Embase, Web of Science, and the Journal of Limb Lengthening and Reconstruction. The inclusion criteria included limb lengthening of the humerus using an intramedullary nail, clinical studies, all levels of evidence, and no restriction to the date of publication. Results: Our search yielded 239 journal articles. A total of nine articles remained relevant based on the inclusion and exclusion criteria. The total number of patients was 20, with 22 segments lengthened. The mean age of the patients was 20.8-year-old [standard deviation (SD), 12.0; range, 13-51]. The mean gained length was 5.7 cm (SD, 0.9; range, 5-7.5) with a mean distraction protocol of 0.82 mm/day (SD, 0.2; range, 0.6-1). The average duration of lengthening was 71.6 days (SD, 12.8; range, 50-93), and the mean duration of consolidation was 192.3 days (SD, 40.5; range, 120-228). Reported complications included a range of motion (ROM) limitation, hardware failure, and hypertrophic bone regeneration. Conclusion: Humeral lengthening with an MIN provides favourable outcomes with low complication rates. Future high-level studies should focus on comparing long-term outcomes of humeral lengthening utilising internal and external fixation techniques. Clinical significance: Humeral lengthening using MIN can be used safely. Each surgical approach and type of nail have different risks and benefits. These should be carefully discussed when planning the surgery. How to cite this article: Lorange JP, Alamiri N, Marwan Y, et al. Humerus Lengthening with a Motorized Intramedullary Nail: A Systematic Review of Outcomes and Complications. Strategies Trauma Limb Reconstr 2022;17(3):165-171.

Plethora of Traumatic Lesions of Bilateral Knee Extensor Mechanism in Osteogenesis Imperfecta.

Introduction: Injuries to the quadriceps extensor mechanism are rare in patients with Osteogenesis Imperfecta (OI). To the best of our knowledge, non-union of the patella in OI, either as an isolated problem or in combination with an acute fracture, has not been previously reported. Case report: We describe how we surgically approached both the fracture and the non-union simultaneously. The surgical technique and steps are described in detail. Post-operative course was uneventful and the outcome was favorable, with full return of function for the patient. Conclusion: A review of various knee extensor mechanism injuries in OI is described as illustrated in a single patient. The unusual simultaneous surgical treatment of a non-union and an acute fracture in the same patella shows that despite the severely compromised bone in this rare bone disease the bone still has a capacity to heal with a functional outcome.

Bilateral Hallux Valgus: A Utility Outcome Score Assessment.

Hallux valgus is the most common forefoot problem in adults. Although it can cause considerable disability and affect the quality of life of those affected, many patients seek medical attention because of cosmetic concerns. Our aim was to objectively measure the perceived health burden of living with bilateral hallux valgus. Previously validated utility outcome measures, including the visual analog scale, time trade-off, and standard gamble tests, were used to quantify the health burden for single-eye blindness, double-eye blindness, and bilateral hallux valgus in 103 healthy subjects using an online survey. The Student t test and linear regression analysis were used for statistical analysis. The mean visual analog scale, time trade-off, and standard gamble scores for bilateral hallux valgus were 0.86 ± 1.6, 0.95 ± 0.5, and 0.95 ± 0.14, respectively. These were significantly greater than the utility scores for single-eye and double-eye blindness (p < .05). Age, gender, race, income, and education were not statistically significant independent predictors of the utility scores for hallux valgus. In conclusion, we have objectively demonstrated the effect of living with bilateral hallux valgus deformities. Our sample population reported being willing to undergo a procedure with a 5% mortality rate and sacrifice 1.8 years of life to attain perfect health and avoid the bilateral hallux valgus health state. Our findings will guide us in counseling our patients and understanding how they perceive their foot deformity.

The effect of altering the mechanical loading environment on the expression of bone regenerating molecules in cases of distraction osteogenesis.

Distraction osteogenesis (DO) is a surgical technique where gradual and controlled separation of two bony fragments following an osteotomy leads to the induction of new bone formation in the distracted gap. DO is used for limb lengthening, correction of bony deformities, and the replacement of bone loss secondary to infection, trauma, and tumors. Although DO gives satisfactory results in most cases, one major drawback of this technique is the prolonged period of time the external fixator has to be kept on until the newly formed bone consolidates thus leading to numerous complications. Numerous attempts at accelerating bone formation during DO have been reported. One specific approach is manipulation of the mechanical environment during DO by applying changes in the standard protocol of distraction. Attempts at changing this mechanical environment led to mixed results. Increasing the rate or applying acute distraction, led to poor bone formation in the distracted zone. On the other hand, the addition of compressive forces (such as weight bearing, alternating distraction with compression or by over-lengthening, and then shortening) has been reported to increase bone formation. It still remains unclear why these alterations may lead to changes in bone formation. While the cellular and molecular changes occurring during the standard DO protocol, specifically increased expression of transforming growth factor-ß1, platelet-derived growth factor, insulin-like growth factor, basic fibroblast growth factor, vascular endothelial growth factor, and bone morphogenic proteins have been extensively investigated, the literature is sparse on the changes occurring when this protocol is altered. It is the purpose of this article to review the pertinent literature on the changes in the expression of various proteins and molecules as a result of changes in the mechanical loading technique in DO and try to define potential future research directions.