Degenerative cervical spondylosis (DCS) is a common musculoskeletal disease that encompasses a wide range of progressive degenerative changes and affects all components of the cervical spine. DCS imposes very large social and economic burdens. However, its genetic basis remains elusive. Predicted whole-blood and skeletal muscle gene expression and genome-wide association study (GWAS) data from a DCS database were integrated, and functional summary-based imputation (FUSION) software was used on the integrated data. A transcriptome-wide association study (TWAS) was conducted using FUSION software to assess the association between predicted gene expression and DCS risk. The TWAS-identified genes were verified via comparison with differentially expressed genes (DEGs) in DCS RNA expression profiles in the Gene Expression Omnibus (GEO) (Accession Number: GSE153761). The Functional Mapping and Annotation (FUMA) tool for genome-wide association studies and Meta tools were used for gene functional enrichment and annotation analysis.Aims
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This study aimed to develop and validate a fully automated system that quantifies proximal femoral bone mineral density (BMD) from CT images. The study analyzed 978 pairs of hip CT and dual-energy X-ray absorptiometry (DXA) measurements of the proximal femur (DXA-BMD) collected from three institutions. From the CT images, the femur and a calibration phantom were automatically segmented using previously trained deep-learning models. The Hounsfield units of each voxel were converted into density (mg/cm3). Then, a deep-learning model trained by manual landmark selection of 315 cases was developed to select the landmarks at the proximal femur to rotate the CT volume to the neutral position. Finally, the CT volume of the femur was projected onto the coronal plane, and the areal BMD of the proximal femur (CT-aBMD) was quantified. CT-aBMD correlated to DXA-BMD, and a receiver operating characteristic (ROC) analysis quantified the accuracy in diagnosing osteoporosis.Aims
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Knee osteoarthritis (OA) involves a variety of tissues in the joint. Gene expression profiles in different tissues are of great importance in order to understand OA. First, we obtained gene expression profiles of cartilage, synovium, subchondral bone, and meniscus from the Gene Expression Omnibus (GEO). Several datasets were standardized by merging and removing batch effects. Then, we used unsupervised clustering to divide OA into three subtypes. The gene ontology and pathway enrichment of three subtypes were analyzed. CIBERSORT was used to evaluate the infiltration of immune cells in different subtypes. Finally, OA-related genes were obtained from the Molecular Signatures Database for validation, and diagnostic markers were screened according to clinical characteristics. Quantitative reverse transcription polymerase chain reaction (qRT‐PCR) was used to verify the effectiveness of markers.Aims
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The metabolic variations between the cartilage of osteoarthritis (OA) and Kashin-Beck disease (KBD) remain largely unknown. Our study aimed to address this by conducting a comparative analysis of the metabolic profiles present in the cartilage of KBD and OA. Cartilage samples from patients with KBD (n = 10) and patients with OA (n = 10) were collected during total knee arthroplasty surgery. An untargeted metabolomics approach using liquid chromatography coupled with mass spectrometry (LC-MS) was conducted to investigate the metabolomics profiles of KBD and OA. LC-MS raw data files were converted into mzXML format and then processed by the XCMS, CAMERA, and metaX toolbox implemented with R software. The online Kyoto Encyclopedia of Genes and Genomes (KEGG) database was used to annotate the metabolites by matching the exact molecular mass data of samples with those from the database.Aims
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Heterotopic ossification (HO) is a common complication after elbow trauma and can cause severe upper limb disability. Although multiple prognostic factors have been reported to be associated with the development of post-traumatic HO, no model has yet been able to combine these predictors more succinctly to convey prognostic information and medical measures to patients. Therefore, this study aimed to identify prognostic factors leading to the formation of HO after surgery for elbow trauma, and to establish and validate a nomogram to predict the probability of HO formation in such particular injuries. This multicentre case-control study comprised 200 patients with post-traumatic elbow HO and 229 patients who had elbow trauma but without HO formation between July 2019 and December 2020. Features possibly associated with HO formation were obtained. The least absolute shrinkage and selection operator regression model was used to optimize feature selection. Multivariable logistic regression analysis was applied to build the new nomogram: the Shanghai post-Traumatic Elbow Heterotopic Ossification Prediction model (STEHOP). STEHOP was validated by concordance index (C-index) and calibration plot. Internal validation was conducted using bootstrapping validation.Aims
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This study aimed to explore the biological and clinical importance of dysregulated key genes in osteoarthritis (OA) patients at the cartilage level to find potential biomarkers and targets for diagnosing and treating OA. Six sets of gene expression profiles were obtained from the Gene Expression Omnibus database. Differential expression analysis, weighted gene coexpression network analysis (WGCNA), and multiple machine-learning algorithms were used to screen crucial genes in osteoarthritic cartilage, and genome enrichment and functional annotation analyses were used to decipher the related categories of gene function. Single-sample gene set enrichment analysis was performed to analyze immune cell infiltration. Correlation analysis was used to explore the relationship among the hub genes and immune cells, as well as markers related to articular cartilage degradation and bone mineralization.Aims
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The aims of this study were to assess mapping models to predict the three-level version of EuroQoL five-dimension utility index (EQ-5D-3L) from the Oxford Knee Score (OKS) and validate these before and after total knee arthroplasty (TKA). A retrospective cohort of 5,857 patients was used to create the prediction models, and a second cohort of 721 patients from a different centre was used to validate the models, all of whom underwent TKA. Patient characteristics, BMI, OKS, and EQ-5D-3L were collected preoperatively and one year postoperatively. Generalized linear regression was used to formulate the prediction models.Aims
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While preoperative bloodwork is routinely ordered, its value in determining which patients are at risk of postoperative readmission following total knee arthroplasty (TKA) and total hip arthroplasty (THA) is unclear. The objective of this study was to determine which routinely ordered preoperative blood markers have the strongest association with acute hospital readmission for patients undergoing elective TKA and THA. Two population-based retrospective cohorts were assembled for all adult primary elective TKA (n = 137,969) and THA (n = 78,532) patients between 2011 to 2018 across 678 North American hospitals using the American College of Surgeons National Quality Improvement Programme (ACS-NSQIP) registry. Six routinely ordered preoperative blood markers - albumin, haematocrit, platelet count, white blood cell count (WBC), estimated glomerular filtration rate (eGFR), and sodium level - were queried. The association between preoperative blood marker values and all-cause readmission within 30 days of surgery was compared using univariable analysis and multivariable logistic regression adjusted for relevant patient and treatment factors.Aims
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The Uppföljningsprogram för cerebral pares (CPUP) Hip Score distinguishes between children with cerebral palsy (CP) at different levels of risk for displacement of the hip. The score was constructed using data from Swedish children with CP, but has not been confirmed in any other population. The aim of this study was to determine the calibration and discriminatory accuracy of this score in children with CP in Scotland. This was a total population-based study of children registered with the Cerebral Palsy Integrated Pathway Scotland. Displacement of the hip was defined as a migration percentage (MP) of > 40%. Inclusion criteria were children in Gross Motor Function Classification System (GMFCS) levels III to V. The calibration slope was estimated and Kaplan-Meier curves produced for five strata of CPUP scores to compare the observed with the predicted risk of displacement of the hip at five years. For discriminatory accuracy, the time-dependent area under the receiver operating characteristic curve (AUC) was estimated. In order to analyze differences in the performance of the score between cohorts, score weights, and subsequently the AUC, were re-estimated using the variables of the original score: the child’s age at the first examination, GMFCS level, head shaft angle, and MP of the worst hip in a logistic regression with imputation of outcomes for those with incomplete follow-up.Aims
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We sought to quantify agreement by different assessors of the AO classification for distal fractures of the radius. Thirty radiographs of acute distal radial fractures were evaluated by 36 assessors of varying clinical experience. Our findings suggest that AO ‘type’ and the presence or absence of articular displacement are measured with high consistency when classification of distal radial fractures is undertaken by experienced observers. Assessors at all experience levels had difficulty agreeing on AO ‘group’ and especially AO ‘subgroup’. To categorise distal radial fractures according to joint displacement and AO type is simple and reproducible. Our study examined only whether distal radial fractures could be consistently classified according to the AO system.
The aim of this study was to screen the entire genome for genetic markers associated with risk for anterior cruciate ligament (ACL) and posterior cruciate ligament (PCL) injury. Genome-wide association (GWA) analyses were performed using data from the Kaiser Permanente Research Board (KPRB) and the UK Biobank. ACL and PCL injury cases were identified based on electronic health records from KPRB and the UK Biobank. GWA analyses from both cohorts were tested for ACL and PCL injury using a logistic regression model adjusting for sex, height, weight, age at enrolment, and race/ethnicity using allele counts for single nucleotide polymorphisms (SNPs). The data from the two GWA studies were combined in a meta-analysis. Candidate genes previously reported to show an association with ACL injury in athletes were also tested for association from the meta-analysis data from the KPRB and the UK Biobank GWA studies.Aims
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Recurrent dislocation is both a cause and consequence of glenoid bone loss, and the extent of the bony defect is an indicator guiding operative intervention. Literature suggests that loss greater than 25% requires glenoid reconstruction. Measuring bone loss is controversial; studies use different methods to determine this, with no clear evidence of reproducibility. A systematic review was performed to identify existing CT-based methods of quantifying glenoid bone loss and establish their reliability and reproducibility A Preferred Reporting Items for Systematic reviews and Meta-Analyses-compliant systematic review of conventional and grey literature was performed.Aims
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There is increasing popularity in the use of artificial intelligence and machine-learning techniques to provide diagnostic and prognostic models for various aspects of Trauma & Orthopaedic surgery. However, correct interpretation of these models is difficult for those without specific knowledge of computing or health data science methodology. Lack of current reporting standards leads to the potential for significant heterogeneity in the design and quality of published studies. We provide an overview of machine-learning techniques for the lay individual, including key terminology and best practice reporting guidelines. Cite this article:
The distal radius is a major site of osteoporotic bone loss resulting in a high risk of fragility fracture. This study evaluated the capability of a cortical index (CI) at the distal radius to predict the local bone mineral density (BMD). A total of 54 human cadaver forearms (ten singles, 22 pairs) (19 to 90 years) were systematically assessed by clinical radiograph (XR), dual-energy X-ray absorptiometry (DXA), CT, as well as high-resolution peripheral quantitative CT (HR-pQCT). Cortical bone thickness (CBT) of the distal radius was measured on XR and CT scans, and two cortical indices mean average (CBTavg) and gauge (CBTg) were determined. These cortical indices were compared to the BMD of the distal radius determined by DXA (areal BMD (aBMD)) and HR-pQCT (volumetric BMD (vBMD)). Pearson correlation coefficient (r) and intraclass correlation coefficient (ICC) were used to compare the results and degree of reliability.Aims
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Rotating-hinge knee prostheses are commonly used to reconstruct the distal femur after resection of a tumour, despite the projected long-term burden of reoperation due to complications. Few studies have examined the factors that influence their failure and none, to our knowledge, have used competing risk models to do so. The purpose of this study was to determine the risk factors for failure of a rotating-hinge knee distal femoral arthroplasty using the Fine-Gray competing risk model. We retrospectively reviewed 209 consecutive patients who, between 1991 and 2016, had undergone resection of the distal femur for tumour and reconstruction using a rotating-hinge knee prosthesis. The study endpoint was failure of the prosthesis, defined as removal of the femoral component, the tibial component, or the bone-implant fixation; major revision (exchange of the femoral component, tibial component, or the bone-implant fixation); or amputation.Aims
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Patient-reported outcome measures have become an important part of routine care. The aim of this study was to determine if Patient-Reported Outcomes Measurement Information System (PROMIS) measures can be used to create patient subgroups for individuals seeking orthopaedic care. This was a cross-sectional study of patients from Duke University Department of Orthopaedic Surgery clinics (14 ambulatory and four hospital-based). There were two separate cohorts recruited by convenience sampling (i.e. patients were included in the analysis only if they completed PROMIS measures during a new patient visit). Cohort #1 (n = 12,141; December 2017 to December 2018,) included PROMIS short forms for eight domains (Physical Function, Pain Interference, Pain Intensity, Depression, Anxiety, Sleep Quality, Participation in Social Roles, and Fatigue) and Cohort #2 (n = 4,638; January 2019 to August 2019) included PROMIS Computer Adaptive Testing instruments for four domains (Physical Function, Pain Interference, Depression, and Sleep Quality). Cluster analysis (K-means method) empirically derived subgroups and subgroup differences in clinical and sociodemographic factors were identified with one-way analysis of variance.Aims
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The purpose of this study was to develop a personalized outcome prediction tool, to be used with knee arthroplasty patients, that predicts outcomes (lengths of stay (LOS), 90 day readmission, and one-year patient-reported outcome measures (PROMs) on an individual basis and allows for dynamic modifiable risk factors. Data were prospectively collected on all patients who underwent total or unicompartmental knee arthroplasty at a between July 2015 and June 2018. Cohort 1 (n = 5,958) was utilized to develop models for LOS and 90 day readmission. Cohort 2 (n = 2,391, surgery date 2015 to 2017) was utilized to develop models for one-year improvements in Knee Injury and Osteoarthritis Outcome Score (KOOS) pain score, KOOS function score, and KOOS quality of life (QOL) score. Model accuracies within the imputed data set were assessed through cross-validation with root mean square errors (RMSEs) and mean absolute errors (MAEs) for the LOS and PROMs models, and the index of prediction accuracy (IPA), and area under the curve (AUC) for the readmission models. Model accuracies in new patient data sets were assessed with AUC.Aims
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A comprehensive classification for coronal lower limb alignment with predictive capabilities for knee balance would be beneficial in total knee arthroplasty (TKA). This paper describes the Coronal Plane Alignment of the Knee (CPAK) classification and examines its utility in preoperative soft tissue balance prediction, comparing kinematic alignment (KA) to mechanical alignment (MA). A radiological analysis of 500 healthy and 500 osteoarthritic (OA) knees was used to assess the applicability of the CPAK classification. CPAK comprises nine phenotypes based on the arithmetic HKA (aHKA) that estimates constitutional limb alignment and joint line obliquity (JLO). Intraoperative balance was compared within each phenotype in a cohort of 138 computer-assisted TKAs randomized to KA or MA. Primary outcomes included descriptive analyses of healthy and OA groups per CPAK type, and comparison of balance at 10° of flexion within each type. Secondary outcomes assessed balance at 45° and 90° and bone recuts required to achieve final knee balance within each CPAK type.Aims
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