Pediatric Spastic Wrist Contractures Can Be Well Managed With Wrist Arthrodesis.

BACKGROUND: Severe spastic wrist contractures secondary to cerebral palsy (CP) or alike can have significant implications for patient hand function, hygiene, skin breakdown, and cosmesis. When these contractures become rigid, soft tissue procedures alone are unable to obtain or maintain the desired correction. In these patients' wrist arthrodesis is an option-enabling the hand to be stabilized in a more functional position for hygiene, dressing, and general cosmesis, though are patients satisfied? METHODS: All children who had undergone a wrist arthrodesis for the management of a severe wrist contracture at Shriners Hospital, Portland between January 2016 and January 2021 were identified (n=23). A chart review was undertaken to obtain data-demographic, operative, clinical, and radiographic. All patients were then contacted to participate in 2 patient-reported outcome questionnaires (74% response agreement), a numerical rating scale (NRS), based on the visual analog scale (VAS) and the disability analog scale (DAS). Results were assessed with the aid of descriptive statistics, means and percentages with the primary focus of determining overall patient satisfaction with the procedure. RESULTS: Twenty-three patients were included in the review, and 74% took part in the prospective survey. Included were 10 patients with hemiplegia, 4 with triplegia, 7 with quadriplegia, 1 with a diagnosis of Rhett syndrome, and 1 with a history of traumatic brain injury. All patients achieved radiologic union by a mean of 8 weeks, and 87% obtained a neutral postoperative wrist alignment. The NRS showed 88% of patients were highly satisfied with their results; specifically, 82% had an improved appearance, 53% improved function, 71% improved daily cares, and 65% improved hygiene. The postoperative DAS score averaged 4.7 of 12 indicating mild disability. When looking at how a patient's diagnostic subtype affected outcome results, patients with triplegia reported less improvement and greater disability on the NRS and DAS, averaging 9.5 (severe disability on the DAS). The GMFCS classification had less correlation with outcomes. CONCLUSION: Wrist arthrodesis is a good option for the management of pediatric spastic wrist contractures, with limited complications and an overall high patient/carer satisfaction rate. LEVEL OF EVIDENCE: Level IV-case series.

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.

A comparison of fixation methods in adolescent patients with diaphyseal forearm fractures.

INTRODUCTION: The purpose of this study was to compare both bone diaphyseal forearm fractures in adolescent patients treated with plate fixation to patients treated with intramedullary fixation to identify differences in complications and outcomes. MATERIALS & METHODS: A retrospective study was performed on all adolescent patients with age between 10 and16 year and treated with intramedullary fixation or plate fixation for a diaphyseal both bone forearm fracture between 2005 and 2014. Demographic information and clinical data was collected. Radiographs were reviewed to evaluate post-operative radial bow magnitude and location, time to union, and residual angulation. Complications were graded using the modified Clavien-Dindo Classification system. RESULTS: A total of 102 patients met the inclusion criteria. Of these, 32 were treated with plate fixation and 70 with intramedullary fixation. The intramedullary nail group had 55% of complications classified as major. There were no major complications in the plate fixation group (P = 0.1). The radial bow was significantly more distal and smaller in magnitude in the intramedullary fixation group (P < 0.01). Of the patients who underwent intramedullary fixation, 76% required an open reduction of at least one forearm bone. There was increased time to radiographic union in patients treated with intramedullary fixation when compared to those treated with plates, 68 days versus 58 days (P = 0.03). A second operation was necessary for 91% of patients treated with intramedullary fixation compared to only 3% of patients treated with a plate (P < 0.01). CONCLUSION: Diaphyseal forearm fractures in adolescent patients remain challenging injuries to treat. Forearm bony anatomy is not completely restored with intramedullary fixation. Results suggested an association towards increased complication rates and complication severity with intramedullary fixation. LEVEL OF EVIDENCE: Level 3 retrospective comparative study.

Measurement of Femoral Version by MRI is as Reliable and Reproducible as CT in Children and Adolescents With Hip Disorders.

BACKGROUND: Femoral version measurement techniques based on magnetic resonance imaging (MRI) studies have been developed as an alternative to the high levels of ionizing radiation associated with computed tomography (CT)-based methods. Previous studies have not evaluated the reliability, repeatability, and accuracy of MRI-based femoral version measurements in an adolescent population. METHODS: Subjects who underwent MRI and CT studies for clinical suspicion of hip pain secondary to hip dysplasia or femoroacetabular impingement between 2011 and 2013 were identified. Rapid sequence femoral version images were obtained from MRI Hip dGEMRIC and/or postarthrogram studies. Femoral version images were also obtained from bilateral CT lower extremity, without contrast, studies. Measurements were made by 1 fellowship-trained, pediatric hip preservation attending surgeon, 2 pediatric orthopaedic surgical fellows, and 1 fellowship-trained musculoskeletal radiologist on 2 separate occasions. Linear mixed models were used to estimate the reliability and repeatability associated with CT-based and MRI-based measurements (intraclass correlation coefficients) and to estimate the agreement (CT-MRI) between the 2 techniques. RESULTS: The mean age of 36 subjects was 15.4 years (±4.1 y). Interrater reliability was 0.91 (95% CI, 0.86-0.95) for the CT technique compared with 0.90 (95% CI, 0.86-0.94) for the rapid sequence MRI technique. Intrarater reliability for the CT technique was 0.96 (95% CI, 0.91-0.98) compared with 0.95 (95% CI, 0.90-0.97) for the MRI technique. The agreement between the MRI-based and CT-based techniques (bias: 1.9 degrees, limits of agreement: -11.3 to 14.9 degrees) was similar to the agreement between consecutive MRI measurements (bias: 0.4 degrees, limits of agreement: -7.8 to 8.6 degrees) as well as consecutive CT measurements (bias: 0.5 degrees, limits of agreement: -8.8 to 9.9 degrees). CONCLUSIONS: The interrater and intrarater reliability and repeatability estimates (intraclass correlation coefficient values) associated with both techniques was excellent (>0.90). Acquirement of axial images at the pelvis and knee during MRI for investigation of adolescents with hip pain allows for reliable measurement of femoral version. LEVEL OF EVIDENCE: Level II-diagnostic study.

A genomewide screen for suppressors of Alu-mediated rearrangements reveals a role for PIF1.

Alu-mediated rearrangement of tumor suppressor genes occurs frequently during carcinogenesis. In breast cancer, this mechanism contributes to loss of the wild-type BRCA1 allele in inherited disease and to loss of heterozygosity in sporadic cancer. To identify genes required for suppression of Alu-mediated recombination we performed a genomewide screen of a collection of 4672 yeast gene deletion mutants using a direct repeat recombination assay. The primary screen and subsequent analysis identified 12 candidate genes including TSA, ELG1, and RRM3, which are known to play a significant role in maintaining genomic stability. Genetic analysis of the corresponding human homologs was performed in sporadic breast tumors and in inherited BRCA1-associated carcinomas. Sequencing of these genes in high risk breast cancer families revealed a potential role for the helicase PIF1 in cancer predisposition. PIF1 variant L319P was identified in three breast cancer families; importantly, this variant, which is predicted to be functionally damaging, was not identified in a large series of controls nor has it been reported in either dbSNP or the 1000 Genomes Project. In Schizosaccharomyces pombe, Pfh1 is required to maintain both mitochondrial and nuclear genomic integrity. Functional studies in yeast of human PIF1 L319P revealed that this variant cannot complement the essential functions of Pfh1 in either the nucleus or mitochondria. Our results provide a global view of nonessential genes involved in suppressing Alu-mediated recombination and implicate variation in PIF1 in breast cancer predisposition.