Aims

We compared decompression alone to decompression with fusion surgery for lumbar spinal stenosis, with or without degenerative spondylolisthesis (DS). The aim was to evaluate if five-year outcomes differed between the groups. The two-year results from the same trial revealed no differences.

Abstract. MAGnetic Expansion Control (MAGEC) rods are used in the surgical treatment of children with early onset scoliosis. The magnetically controlled lengthening mechanism enables rod distractions without the need for repeated invasive surgery. The CE certification of these devices was suspended in March 2021 due, primarily, to performance evidence gaps in the documents provided by the manufacturer to regulators and notified bodies. MAGEC rods are therefore not permitted for use in countries requiring CE marking. This was a survey of 18 MAGEC rod surgeons in the UK about their perception of the impact of the CE suspension on the clinical management of their patients. Unsurprisingly, virtually all perceived a negative impact, reflecting the complexity of this patient group. Reassuringly, these surgeons are highly experienced in alternative treatment methods. Cite this article: Bone Jt Open 2022;3(2):155–157

Aims. To describe the clinical, radiological, and functional outcomes in patients with isolated congenital thoracolumbar kyphosis who were treated with three-column osteotomy by posterior-only approach. Methods. Hospital records of 27 patients with isolated congenital thoracolumbar kyphosis undergoing surgery at a single centre were retrospectively analyzed. All patients underwent deformity correction which involved a three-column osteotomy by single-stage posterior-only approach. Radiological parameters (local kyphosis angle (KA), thoracic kyphosis (TK), lumbar lordosis (LL), pelvic tilt (PT), sacral slope (SS), C7 sagittal vertical axis (C7 SVA), T1 slope, and pelvic incidence minus lumbar lordosis (PI-LL)), functional scores, and clinical details of complications were recorded. Results. The mean age of the study population was 13.9 years (SD 6.4). The apex of deformity was in thoracic, thoracolumbar, and lumbar spine in five, 14, and eight patients, respectively. The mean operating time was 178.4 minutes (SD 38.5) and the mean operative blood loss was 701.8 ml (SD 194.4). KA (preoperative mean 70.8° (SD 21.6°) vs final follow-up mean 24.7° (SD 18.9°); p < 0.001) and TK (preoperative mean -1.48° (SD 41.23°) vs final follow-up mean 24.28° (SD 17.29°); p = 0.005) underwent a significant change with surgery. Mean Scoliosis Research Society (SRS-22r) score improved after surgical correction (preoperative mean 3.24 (SD 0.37) vs final follow-up mean 4.28 (SD 0.47); p < 0.001) with maximum improvement in self-image and mental health domains. The overall complication rate was 26%, including two neurological and five non-neurological complications. Permanent neurological deficit was noted in one patient. Conclusion. Deformity correction employing three-column osteotomies by a single-stage posterior-only approach is safe and effective in treating isolated congenital thoracolumbar kyphosis. Cite this article: Bone Joint J 2021;103-B(7):1309–1316

Aims. To develop and internally validate a preoperative clinical prediction model for acute adjacent vertebral fracture (AVF) after vertebral augmentation to support preoperative decision-making, named the after vertebral augmentation (AVA) score. Methods. In this prognostic study, a multicentre, retrospective single-level vertebral augmentation cohort of 377 patients from six Japanese hospitals was used to derive an AVF prediction model. Backward stepwise selection (p < 0.05) was used to select preoperative clinical and imaging predictors for acute AVF after vertebral augmentation for up to one month, from 14 predictors. We assigned a score to each selected variable based on the regression coefficient and developed the AVA scoring system. We evaluated sensitivity and specificity for each cut-off, area under the curve (AUC), and calibration as diagnostic performance. Internal validation was conducted using bootstrapping to correct the optimism. Results. Of the 377 patients used for model derivation, 58 (15%) had an acute AVF postoperatively. The following preoperative measures on multivariable analysis were summarized in the five-point AVA score: intravertebral instability (≥ 5 mm), focal kyphosis (≥ 10°), duration of symptoms (≥ 30 days), intravertebral cleft, and previous history of vertebral fracture. Internal validation showed a mean optimism of 0.019 with a corrected AUC of 0.77. A cut-off of ≤ one point was chosen to classify a low risk of AVF, for which only four of 137 patients (3%) had AVF with 92.5% sensitivity and 45.6% specificity. A cut-off of ≥ four points was chosen to classify a high risk of AVF, for which 22 of 38 (58%) had AVF with 41.5% sensitivity and 94.5% specificity. Conclusion. In this study, the AVA score was found to be a simple preoperative method for the identification of patients at low and high risk of postoperative acute AVF. This model could be applied to individual patients and could aid in the decision-making before vertebral augmentation. Cite this article: Bone Joint J 2022;104-B(1):97–102

Aims. To study the associations of lumbar developmental spinal stenosis (DSS) with low back pain (LBP), radicular leg pain, and disability. Methods. This was a cross-sectional study of 2,206 subjects along with L1-S1 axial and sagittal MRI. Clinical and radiological information regarding their demographics, workload, smoking habits, anteroposterior (AP) vertebral canal diameter, spondylolisthesis, and MRI changes were evaluated. Mann-Whitney U tests and chi-squared tests were conducted to search for differences between subjects with and without DSS. Associations of LBP and radicular pain reported within one month (30 days) and one year (365 days) of the MRI, with clinical and radiological information, were also investigated by utilizing univariate and multivariate logistic regressions. Results. Subjects with DSS had higher prevalence of radicular leg pain, more pain-related disability, and lower quality of life (all p < 0.05). Subjects with DSS had 1.5 (95% confidence interval (CI) 1.0 to 2.1; p = 0.027) and 1.8 (95% CI 1.3 to 2.6; p = 0.001) times higher odds of having radicular leg pain in the past month and the past year, respectively. However, DSS was not associated with LBP. Although, subjects with a spondylolisthesis had 1.7 (95% CI 1.1 to 2.5; p = 0.011) and 2.0 (95% CI 1.2 to 3.2; p = 0.008) times greater odds to experience LBP in the past month and the past year, respectively. Conclusion. This large-scale study identified DSS as a risk factor of acute and chronic radicular leg pain. DSS was seen in 6.9% of the study cohort and these patients had narrower spinal canals. Subjects with DSS had earlier onset of symptoms, more severe radicular leg pain, which lasted for longer and were more likely to have worse disability and poorer quality of life. In these patients there is an increased likelihood of nerve root compression due to a pre-existing narrowed canal, which is important when planning surgery as patients are likely to require multi-level decompression surgery. Cite this article: Bone Joint J 2021;103-B(1):131–140

Aims

The direct posterior approach with subperiosteal dissection of the paraspinal muscles from the vertebrae is considered to be the standard approach for the surgical treatment of adolescent idiopathic scoliosis (AIS). We investigated whether or not a minimally-invasive surgery (MIS) technique could offer improved results.

The purpose of this study was to investigate the clinical predictors of surgical outcome in patients with cervical spondylotic myelopathy (CSM). We reviewed a consecutive series of 248 patients (71 women and 177 men) with CSM who had undergone surgery at our institution between January 2000 and October 2010. Their mean age was 59.0 years (16 to 86). Medical records, office notes, and operative reports were reviewed for data collection. Special attention was focused on pre-operative duration and severity as well as post-operative persistence of myelopathic symptoms. Disease severity was graded according to the Nurick classification. Our multivariate logistic regression model indicated that Nurick grade 2 CSM patients have the highest chance of complete symptom resolution (p < 0.001) and improvement to normal gait (p = 0.004) following surgery. Patients who did not improve after surgery had longer duration of myelopathic symptoms than those who did improve post-operatively (17.85 months (1 to 101) vs 11.21 months (1 to 69); p = 0.002). More advanced Nurick grades were not associated with a longer duration of symptoms (p = 0.906). Our data suggest that patients with Nurick grade 2 CSM are most likely to improve from surgery. The duration of myelopathic symptoms does not have an association with disease severity but is an independent prognostic indicator of surgical outcome. Cite this article: Bone Joint J 2013;95-B:966–71

We report a series of 15 children, six male and nine female, of average age 20 months, seen at a paediatric orthopaedic clinic with torticollis. Orthopaedic examination revealed a normal range of neck movement in all cases but in seven there was palpable tightness in the absence of true shortening or contracture of the sternomastoid muscle. The patients were prospectively referred for ocular examination. In five of the 15 an ocular cause for the torticollis was detected with underaction of the superior oblique muscle in three, paresis of the lateral rectus muscle in one and nystagmus in one. Another two patients were found to have an abnormal ocular examination which was thought to be unrelated to their torticollis. Three of the patients with ocular torticollis required extra-ocular muscle surgery to abolish the head tilt and one of these had a tight sternomastoid muscle. Two of the non-ocular group had surgical release of the sternomastoid muscle; in the rest, the condition either resolved with physiotherapy or required no active treatment. We recommend that all patients with torticollis and no clear orthopaedic cause are referred for ocular assessment since it is not possible clinically to distinguish ocular from non-ocular causes

The identification of the extent of neural damage in patients with acute or chronic spinal cord injury is imperative for the accurate prediction of neurological recovery. The changes in signal intensity shown on routine MRI sequences are of limited value for predicting functional outcome. Diffusion tensor imaging (DTI) is a novel radiological imaging technique which has the potential to identify intact nerve fibre tracts, and has been used to image the brain for a variety of conditions. DTI imaging of the spinal cord is currently only a research tool, but preliminary studies have shown that it holds considerable promise in predicting the severity of spinal cord injury.

This paper briefly reviews our current knowledge of this technique.

Aims. Patients with cauda equina syndrome (CES) require emergency imaging and surgical decompression. The severity and type of symptoms may influence the timing of imaging and surgery, and help predict the patient’s prognosis. Categories of CES attempt to group patients for management and prognostication purposes. We aimed in this study to assess the inter-rater reliability of dividing patients with CES into categories to assess whether they can be reliably applied in clinical practice and in research. Methods. A literature review was undertaken to identify published descriptions of categories of CES. A total of 100 real anonymized clinical vignettes of patients diagnosed with CES from the Understanding Cauda Equina Syndrome (UCES) study were reviewed by consultant spinal surgeons, neurosurgical registrars, and medical students. All were provided with published category definitions and asked to decide whether each patient had ‘suspected CES’; ‘early CES’; ‘incomplete CES’; or ‘CES with urinary retention’. Inter-rater agreement was assessed for all categories, for all raters, and for each group of raters using Fleiss’s kappa. Results. Each of the 100 participants were rated by four medical students, five neurosurgical registrars, and four consultant spinal surgeons. No groups achieved reasonable inter-rater agreement for any of the categories. CES with retention versus all other categories had the highest inter-rater agreement (kappa 0.34 (95% confidence interval 0.27 to 0.31); minimal agreement). There was no improvement in inter-rater agreement with clinical experience. Across all categories, registrars agreed with each other most often (kappa 0.41), followed by medical students (kappa 0.39). Consultant spinal surgeons had the lowest inter-rater agreement (kappa 0.17). Conclusion. Inter-rater agreement for categorizing CES is low among clinicians who regularly manage these patients. CES categories should be used with caution in clinical practice and research studies, as groups may be heterogenous and not comparable. Cite this article: Bone Joint J 2023;105-B(9):1007–1012

Aims. To determine the major risk factors for unplanned reoperations (UROs) following corrective surgery for adult spinal deformity (ASD) and their interactions, using machine learning-based prediction algorithms and game theory. Methods. Patients who underwent surgery for ASD, with a minimum of two-year follow-up, were retrospectively reviewed. In total, 210 patients were included and randomly allocated into training (70% of the sample size) and test (the remaining 30%) sets to develop the machine learning algorithm. Risk factors were included in the analysis, along with clinical characteristics and parameters acquired through diagnostic radiology. Results. Overall, 152 patients without and 58 with a history of surgical revision following surgery for ASD were observed; the mean age was 68.9 years (SD 8.7) and 66.9 years (SD 6.6), respectively. On implementing a random forest model, the classification of URO events resulted in a balanced accuracy of 86.8%. Among machine learning-extracted risk factors, URO, proximal junction failure (PJF), and postoperative distance from the posterosuperior corner of C7 and the vertical axis from the centroid of C2 (SVA) were significant upon Kaplan-Meier survival analysis. Conclusion. The major risk factors for URO following surgery for ASD, i.e. postoperative SVA and PJF, and their interactions were identified using a machine learning algorithm and game theory. Clinical benefits will depend on patient risk profiles. Cite this article: Bone Joint Res 2023;12(4):245–255

Aims. Gram-negative infections are associated with comorbid patients, but outcomes are less well understood. This study reviewed diagnosis, management, and treatment for a cohort treated in a tertiary spinal centre. Methods. A retrospective review was performed of all gram-negative spinal infections (n = 32; median age 71 years; interquartile range 60 to 78), excluding surgical site infections, at a single centre between 2015 to 2020 with two- to six-year follow-up. Information regarding organism identification, antibiotic regime, and treatment outcomes (including clinical, radiological, and biochemical) were collected from clinical notes. Results. All patients had comorbidities and/or non-spinal procedures within the previous year. Most infections affected lumbar segments (20/32), with Escherichia coli the commonest organism (17/32). Causative organisms were identified by blood culture (23/32), biopsy/aspiration (7/32), or intraoperative samples (2/32). There were 56 different antibiotic regimes, with oral (PO) ciprofloxacin being the most prevalent (13/56; 17.6%). Multilevel, contiguous infections were common (8/32; 25%), usually resulting in bone destruction and collapse. Epidural collections were seen in 13/32 (40.6%). In total, five patients required surgery, three for neurological deterioration. Overall, 24 patients improved or recovered with a mean halving of CRP at 8.5 days (SD 6). At the time of review (two to six years post-diagnosis), 16 patients (50%) were deceased. Conclusion. This is the largest published cohort of gram-negative spinal infections. In older patients with comorbidities and/or previous interventions in the last year, a high level of suspicion must be given to gram-negative infection with blood cultures and biopsy essential. Early organism identification permits targeted treatment and good initial clinical outcomes; however, mortality is 50% in this cohort at a mean of 4.2 years (2 to 6) after diagnosis. Cite this article: Bone Jt Open 2024;5(5):435–443

Aims. The aim of this study was to assess the accuracy of pedicle screw placement, as well as intraoperative factors, radiation exposure, and complication rates in adult patients with degenerative disorders of the thoracic and lumbar spines who have undergone robotic-navigated spinal surgery using a contemporary system. Methods. The authors reviewed the prospectively collected data on 196 adult patients who had pedicle screws implanted with robot-navigated assistance (RNA) using the Mazor X Stealth system between June 2019 and March 2022. Pedicle screws were implanted by one experienced spinal surgeon after completion of a learning period. The accuracy of pedicle screw placement was determined using intraoperative 3D fluoroscopy. Results. A total of 1,123 pedicle screws were implanted: 1,001 screws (89%) were placed robotically, 63 (6%) were converted from robotic placement to a freehand technique, and 59 (5%) were planned to be implanted freehand. Of the robotically placed screws, 942 screws (94%) were determined to be Gertzbein and Robbins grade A with median deviation of 0.8 mm (interquartile range 0.4 to 1.6). Skive events were noted with 20 pedicle screws (1.8%). No adverse clinical sequelae were noted in the 90-day follow-up. The mean fluoroscopic exposure per screw was 4.9 seconds (SD 3.8). Conclusion. RNA is highly accurate and reliable, with a low rate of abandonment once mastered. No adverse clinical sequelae occurred after implanting a large series of pedicle screws using the latest generation of RNA. Understanding of patient-specific anatomical features and the real-time intraoperative identification of risk factors for suboptimal screw placement have the potential to improve accuracy further. Cite this article: Bone Joint J 2023;105-B(5):543–550

Aims. To report the development of the technique for minimally invasive lumbar decompression using robotic-assisted navigation. Methods. Robotic planning software was used to map out bone removal for a laminar decompression after registration of CT scan images of one cadaveric specimen. A specialized acorn-shaped bone removal robotic drill was used to complete a robotic lumbar laminectomy. Post-procedure advanced imaging was obtained to compare actual bony decompression to the surgical plan. After confirming accuracy of the technique, a minimally invasive robotic-assisted laminectomy was performed on one 72-year-old female patient with lumbar spinal stenosis. Postoperative advanced imaging was obtained to confirm the decompression. Results. A workflow for robotic-assisted lumbar laminectomy was successfully developed in a human cadaveric specimen, as excellent decompression was confirmed by postoperative CT imaging. Subsequently, the workflow was applied clinically in a patient with severe spinal stenosis. Excellent decompression was achieved intraoperatively and preservation of the dorsal midline structures was confirmed on postoperative MRI. The patient experienced improvement in symptoms postoperatively and was discharged within 24 hours. Conclusion. Minimally invasive robotic-assisted lumbar decompression utilizing a specialized robotic bone removal instrument was shown to be accurate and effective both in vitro and in vivo. The robotic bone removal technique has the potential for less invasive removal of laminar bone for spinal decompression, all the while preserving the spinous process and the posterior ligamentous complex. Spinal robotic surgery has previously been limited to the insertion of screws and, more recently, cages; however, recent innovations have expanded robotic capabilities to decompression of neurological structures. Cite this article: Bone Jt Open 2024;5(9):809–817

Aims. Symptomatic spinal stenosis is a very common problem, and decompression surgery has been shown to be superior to nonoperative treatment in selected patient groups. However, performing an instrumented fusion in addition to decompression may avoid revision and improve outcomes. The aim of the SpInOuT feasibility study was to establish whether a definitive randomized controlled trial (RCT) that accounted for the spectrum of pathology contributing to spinal stenosis, including pelvic incidence-lumbar lordosis (PI-LL) mismatch and mobile spondylolisthesis, could be conducted. Methods. As part of the SpInOuT-F study, a pilot randomized trial was carried out across five NHS hospitals. Patients were randomized to either spinal decompression alone or spinal decompression plus instrumented fusion. Patient-reported outcome measures were collected at baseline and three months. The intended sample size was 60 patients. Results. Of the 90 patients screened, 77 passed the initial screening criteria. A total of 27 patients had a PI-LL mismatch and 23 had a dynamic spondylolisthesis. Following secondary inclusion and exclusion criteria, 31 patients were eligible for the study. Six patients were randomized and one underwent surgery during the study period. Given the low number of patients recruited and randomized, it was not possible to assess completion rates, quality of life, imaging, or health economic outcomes as intended. Conclusion. This study provides a unique insight into the prevalence of dynamic spondylolisthesis and PI-LL mismatch in patients with symptomatic spinal stenosis, and demonstrates that there is a need for a definitive RCT which stratifies for these groups in order to inform surgical decision-making. Nonetheless a definitive study would need further refinement in design and implementation in order to be feasible. Cite this article: Bone Jt Open 2023;4(8):573–579

Aims. Patients with differentiated thyroid carcinomas (DTCs) have a favourable long-term survival. Spinal metastases (SMs) cause a decline in performance status (PS), directly affecting mortality and indirectly preventing the use of systemic therapies. Metastasectomy is indicated, if feasible, as it yields the best local tumour control. Our study aimed to examine the long-term clinical outcomes of metastasectomy for SMs of thyroid carcinomas. Methods. We collected data on 22 patients with DTC (16 follicular and six papillary carcinomas) and one patient with medullary carcinoma who underwent complete surgical resection of SMs at our institution between July 1992 and July 2017, with a minimum postoperative follow-up of five years. The cancer-specific survival (CSS) from the first spinal metastasectomy to death or the last follow-up was determined using Kaplan-Meier analysis. Potential factors associated with survival were evaluated using the log-rank test. We analyzed the clinical parameters and outcome data, including pre- and postoperative disability (Eastern Cooperative Oncology Group PS 3), lung and non-spinal bone metastases, and history of radioiodine and kinase inhibitor therapies. Results. Lung and other bone metastases at the time of surgery were observed in ten and eight patients, respectively. Three patients experienced local tumour recurrences at the operated site. The five- and ten-year CSS rates in the 22 patients with DTC were 77% and 52%, respectively. Pre- and postoperative disability and operative site tumour recurrence were identified as risk factors for short postoperative survival. Conclusion. Metastasectomy for resectable SM from DTC yielded favourable results and has the potential to improve survival. Cite this article: Bone Joint J 2023;105-B(5):575–582

Aims. The optimal procedure for the treatment of ossification of the posterior longitudinal ligament (OPLL) remains controversial. The aim of this study was to compare the outcome of anterior cervical ossified posterior longitudinal ligament en bloc resection (ACOE) with posterior laminectomy and fusion with bone graft and internal fixation (PTLF) for the surgical management of patients with this condition. Methods. Between July 2017 and July 2019, 40 patients with cervical OPLL were equally randomized to undergo surgery with an ACOE or a PTLF. The clinical and radiological results were compared between the two groups. Results. The Japanese Orthopaedic Association (JOA) score and recovery rate in the ACOE group were significantly higher than those in the PTLF group during two years postoperatively, provided that the canal occupying ratio (COR) was > 50%, or the K-line was negative. There was no significant difference in JOA scores and rate of recovery between the two groups in those in whom the COR was < 50%, or the K-line was positive. There was no significant difference in the Cobb angle between C2 and C7, sagittal vertical axis, cervical range of motion (ROM), and complications between the two groups. Conclusion. Compared with PTLF, ACOE is a preferred surgical approach for the surgical management of patients with cervical OPLL in that it offers a better therapeutic outcome when the COR is > 50%, or the K-line is negative, and it also preserves better cervical curvature and sagittal balance. The prognosis of ACOE is similar to that of PTLE when the COR is < 50%, or the K-line is positive. Cite this article: Bone Joint J 2023;105-B(4):412–421

Aims. People with severe, persistent low back pain (LBP) may be offered lumbar spine fusion surgery if they have had insufficient benefit from recommended non-surgical treatments. However, National Institute for Health and Care Excellence (NICE) 2016 guidelines recommended not offering spinal fusion surgery for adults with LBP, except as part of a randomized clinical trial. This survey aims to describe UK clinicians’ views about the suitability of patients for such a future trial, along with their views regarding equipoise for randomizing patients in a future clinical trial comparing lumbar spine fusion surgery to best conservative care (BCC; the FORENSIC-UK trial). Methods. An online cross-sectional survey was piloted by the multidisciplinary research team, then shared with clinical professional groups in the UK who are involved in the management of adults with severe, persistent LBP. The survey had seven sections that covered the demographic details of the clinician, five hypothetical case vignettes of patients with varying presentations, a series of questions regarding the preferred management, and whether or not each clinician would be willing to recruit the example patients into future clinical trials. Results. There were 72 respondents, with a response rate of 9.0%. They comprised 39 orthopaedic spine surgeons, 17 neurosurgeons, one pain specialist, and 15 allied health professionals. Most respondents (n = 61,84.7%) chose conservative care as their first-choice management option for all five case vignettes. Over 50% of respondents reported willingness to randomize three of the five cases to either surgery or BCC, indicating a willingness to participate in the future randomized trial. From the respondents, transforaminal interbody fusion was the preferred approach for spinal fusion (n = 19, 36.4%), and the preferred method of BCC was a combined programme of physical and psychological therapy (n = 35, 48.5%). Conclusion. This survey demonstrates that there is uncertainty about the role of lumbar spine fusion surgery and BCC for a range of example patients with severe, persistent LBP in the UK. Cite this article: Bone Jt Open 2024;5(7):612–620

Aims. This systematic review aims to identify 3D predictors derived from biplanar reconstruction, and to describe current methods for improving curve prediction in patients with mild adolescent idiopathic scoliosis. Methods. A comprehensive search was conducted by three independent investigators on MEDLINE, PubMed, Web of Science, and Cochrane Library. Search terms included “adolescent idiopathic scoliosis”,“3D”, and “progression”. The inclusion and exclusion criteria were carefully defined to include clinical studies. Risk of bias was assessed with the Quality in Prognostic Studies tool (QUIPS) and Appraisal tool for Cross-Sectional Studies (AXIS), and level of evidence for each predictor was rated with the Grading of Recommendations, Assessment, Development, and Evaluations (GRADE) approach. In all, 915 publications were identified, with 377 articles subjected to full-text screening; overall, 31 articles were included. Results. Torsion index (TI) and apical vertebral rotation (AVR) were identified as accurate predictors of curve progression in early visits. Initial TI > 3.7° and AVR > 5.8° were predictive of curve progression. Thoracic hypokyphosis was inconsistently observed in progressive curves with weak evidence. While sagittal wedging was observed in mild curves, there is insufficient evidence for its correlation with curve progression. In curves with initial Cobb angle < 25°, Cobb angle was a poor predictor for future curve progression. Prediction accuracy was improved by incorporating serial reconstructions in stepwise layers. However, a lack of post-hoc analysis was identified in studies involving geometrical models. Conclusion. For patients with mild curves, TI and AVR were identified as predictors of curve progression, with TI > 3.7° and AVR > 5.8° found to be important thresholds. Cobb angle acts as a poor predictor in mild curves, and more investigations are required to assess thoracic kyphosis and wedging as predictors. Cumulative reconstruction of radiographs improves prediction accuracy. Comprehensive analysis between progressive and non-progressive curves is recommended to extract meaningful thresholds for clinical prognostication. Cite this article: Bone Jt Open 2024;5(3):243–251

Aims. 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. Methods. 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. Results. The TWAS detected 420 DCS genes with p < 0.05 in skeletal muscle, such as ribosomal protein S15A (RPS15A) (PTWAS = 0.001), and 110 genes in whole blood, such as selectin L (SELL) (PTWAS = 0.001). Comparison with the DCS RNA expression profile identified 12 common genes, including Apelin Receptor (APLNR) (PTWAS = 0.001, PDEG = 0.025). In total, 148 DCS-enriched Gene Ontology (GO) terms were identified, such as mast cell degranulation (GO:0043303); 15 DCS-enriched Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways were identified, such as the sphingolipid signalling pathway (ko04071). Nine terms, such as degradation of the extracellular matrix (R-HSA-1474228), were common to the TWAS enrichment results and the RNA expression profile. Conclusion. Our results identify putative susceptibility genes; these findings provide new ideas for exploration of the genetic mechanism of DCS development and new targets for preclinical intervention and clinical treatment. Cite this article: Bone Joint Res 2023;12(1):80–90