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Bone & Joint Research
Vol. 12, Issue 6 | Pages 387 - 396
26 Jun 2023
Xu J Si H Zeng Y Wu Y Zhang S Shen B

Aims. 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. Methods. We conducted a transcriptome-wide association study (TWAS) of spinal canal stenosis by integrating genome-wide association study summary statistics (including 661 cases and 178,065 controls) derived from Biobank Japan, and pre-computed gene expression weights of skeletal muscle and whole blood implemented in FUSION software. To verify the TWAS results, the candidate genes were furthered compared with messenger RNA (mRNA) expression profiles of LSS to screen for common genes. Finally, Metascape software was used to perform enrichment analysis of the candidate genes and common genes. Results. TWAS identified 295 genes with permutation p-values < 0.05 for skeletal muscle and 79 genes associated for the whole blood, such as RCHY1 (PTWAS = 0.001). Those genes were enriched in 112 gene ontology (GO) terms and five Kyoto Encyclopedia of Genes and Genomes pathways, such as ‘chemical carcinogenesis - reactive oxygen species’ (LogP value = −2.139). Further comparing the TWAS significant genes with the differentially expressed genes identified by mRNA expression profiles of LSS found 18 overlapped genes, such as interleukin 15 receptor subunit alpha (IL15RA) (PTWAS = 0.040, PmRNA = 0.010). Moreover, 71 common GO terms were detected for the enrichment results of TWAS and mRNA expression profiles, such as negative regulation of cell differentiation (LogP value = −2.811). Conclusion. This study revealed the genetic mechanism behind the pathological changes in LSS, and may provide novel insights for the early diagnosis and intervention of LSS. Cite this article: Bone Joint Res 2023;12(6):387–396


Bone & Joint Research
Vol. 12, Issue 1 | Pages 80 - 90
20 Jan 2023
Xu J Si H Zeng Y Wu Y Zhang S Liu Y Li M Shen B

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.


Bone & Joint Open
Vol. 5, Issue 7 | Pages 612 - 620
19 Jul 2024
Bada ES Gardner AC Ahuja S Beard DJ Window P Foster NE

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.


The Bone & Joint Journal
Vol. 106-B, Issue 11 | Pages 1333 - 1341
1 Nov 2024
Cheung PWH Leung JHM Lee VWY Cheung JPY

Aims

Developmental cervical spinal stenosis (DcSS) is a well-known predisposing factor for degenerative cervical myelopathy (DCM) but there is a lack of consensus on its definition. This study aims to define DcSS based on MRI, and its multilevel characteristics, to assess the prevalence of DcSS in the general population, and to evaluate the presence of DcSS in the prediction of developing DCM.

Methods

This cross-sectional study analyzed MRI spine morphological parameters at C3 to C7 (including anteroposterior (AP) diameter of spinal canal, spinal cord, and vertebral body) from DCM patients (n = 95) and individuals recruited from the general population (n = 2,019). Level-specific median AP spinal canal diameter from DCM patients was used to screen for stenotic levels in the population-based cohort. An individual with multilevel (≥ 3 vertebral levels) AP canal diameter smaller than the DCM median values was considered as having DcSS. The most optimal cut-off canal diameter per level for DcSS was determined by receiver operating characteristic analyses, and multivariable logistic regression was performed for the prediction of developing DCM that required surgery.


The Bone & Joint Journal
Vol. 105-B, Issue 2 | Pages 166 - 171
1 Feb 2023
Ragborg LC Dragsted C Ohrt-Nissen S Andersen T Gehrchen M Dahl B

Aims

Only a few studies have investigated the long-term health-related quality of life (HRQoL) in patients with an idiopathic scoliosis. The aim of this study was to investigate the overall HRQoL and employment status of patients with an idiopathic scoliosis 40 years after diagnosis, to compare it with that of the normal population, and to identify possible predictors for a better long-term HRQoL.

Methods

We reviewed the full medical records and radiological reports of patients referred to our hospital with a scoliosis of childhood between April 1972 and April 1982. Of 129 eligible patients with a juvenile or adolescent idiopathic scoliosis, 91 took part in the study (71%). They were evaluated with full-spine radiographs and HRQoL questionnaires and compared with normative data. We compared the HRQoL between observation (n = 27), bracing (n = 46), and surgical treatment (n = 18), and between thoracic and thoracolumbar/lumbar (TL/L) curves.


Bone & Joint Open
Vol. 4, Issue 11 | Pages 832 - 838
3 Nov 2023
Pichler L Li Z Khakzad T Perka C Pumberger M Schömig F

Aims

Implant-related postoperative spondylodiscitis (IPOS) is a severe complication in spine surgery and is associated with high morbidity and mortality. With growing knowledge in the field of periprosthetic joint infection (PJI), equivalent investigations towards the management of implant-related infections of the spine are indispensable. To our knowledge, this study provides the largest description of cases of IPOS to date.

Methods

Patients treated for IPOS from January 2006 to December 2020 were included. Patient demographics, parameters upon admission and discharge, radiological imaging, and microbiological results were retrieved from medical records. CT and MRI were analyzed for epidural, paravertebral, and intervertebral abscess formation, vertebral destruction, and endplate involvement. Pathogens were identified by CT-guided or intraoperative biopsy, intraoperative tissue sampling, or implant sonication.


The Bone & Joint Journal
Vol. 106-B, Issue 1 | Pages 53 - 61
1 Jan 2024
Buckland AJ Huynh NV Menezes CM Cheng I Kwon B Protopsaltis T Braly BA Thomas JA

Aims

The aim of this study was to reassess the rate of neurological, psoas-related, and abdominal complications associated with L4-L5 lateral lumbar interbody fusion (LLIF) undertaken using a standardized preoperative assessment and surgical technique.

Methods

This was a multicentre retrospective study involving consecutively enrolled patients who underwent L4-L5 LLIF by seven surgeons at seven institutions in three countries over a five-year period. The demographic details of the patients and the details of the surgery, reoperations and complications, including femoral and non-femoral neuropraxia, thigh pain, weakness of hip flexion, and abdominal complications, were analyzed. Neurological and psoas-related complications attributed to LLIF or posterior instrumentation and persistent symptoms were recorded at one year postoperatively.


Bone & Joint Open
Vol. 4, Issue 11 | Pages 873 - 880
17 Nov 2023
Swaby L Perry DC Walker K Hind D Mills A Jayasuriya R Totton N Desoysa L Chatters R Young B Sherratt F Latimer N Keetharuth A Kenison L Walters S Gardner A Ahuja S Campbell L Greenwood S Cole A

Aims

Scoliosis is a lateral curvature of the spine with associated rotation, often causing distress due to appearance. For some curves, there is good evidence to support the use of a spinal brace, worn for 20 to 24 hours a day to minimize the curve, making it as straight as possible during growth, preventing progression. Compliance can be poor due to appearance and comfort. A night-time brace, worn for eight to 12 hours, can achieve higher levels of curve correction while patients are supine, and could be preferable for patients, but evidence of efficacy is limited. This is the protocol for a randomized controlled trial of ‘full-time bracing’ versus ‘night-time bracing’ in adolescent idiopathic scoliosis (AIS).

Methods

UK paediatric spine clinics will recruit 780 participants aged ten to 15 years-old with AIS, Risser stage 0, 1, or 2, and curve size (Cobb angle) 20° to 40° with apex at or below T7. Patients are randomly allocated 1:1, to either full-time or night-time bracing. A qualitative sub-study will explore communication and experiences of families in terms of bracing and research. Patient and Public Involvement & Engagement informed study design and will assist with aspects of trial delivery and dissemination.


The Bone & Joint Journal
Vol. 105-B, Issue 2 | Pages 172 - 179
1 Feb 2023
Shimizu T Kato S Demura S Shinmura K Yokogawa N Kurokawa Y Yoshioka K Murakami H Kawahara N Tsuchiya H

Aims

The aim of this study was to investigate the incidence and characteristics of instrumentation failure (IF) after total en bloc spondylectomy (TES), and to analyze risk factors for IF.

Methods

The medical records from 136 patients (65 male, 71 female) with a mean age of 52.7 years (14 to 80) who underwent TES were retrospectively reviewed. The mean follow-up period was 101 months (36 to 232). Analyzed factors included incidence of IF, age, sex, BMI, history of chemotherapy or radiotherapy, tumour histology (primary or metastasis; benign or malignant), surgical approach (posterior or combined), tumour location (thoracic or lumbar; junctional or non-junctional), number of resected vertebrae (single or multilevel), anterior resection line (disc-to-disc or intravertebra), type of bone graft (autograft or frozen autograft), cage subsidence (CS), and local alignment (LA). A survival analysis of the instrumentation was performed, and relationships between IF and other factors were investigated using the Cox regression model.


Bone & Joint Research
Vol. 12, Issue 4 | Pages 245 - 255
3 Apr 2023
Ryu S So J Ha Y Kuh S Chin D Kim K Cho Y Kim K

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.


The Bone & Joint Journal
Vol. 104-B, Issue 11 | Pages 1249 - 1255
1 Nov 2022
Williamson TK Passfall L Ihejirika-Lomedico R Espinosa A Owusu-Sarpong S Lanre-Amos T Schoenfeld AJ Passias PG

Aims

Postoperative complication rates remain relatively high after adult spinal deformity (ASD) surgery. The extent to which modifiable patient-related factors influence complication rates in patients with ASD has not been effectively evaluated. The aim of this retrospective cohort study was to evaluate the association between modifiable patient-related factors and complications after corrective surgery for ASD.

Methods

ASD patients with two-year data were included. Complications were categorized as follows: any complication, major, medical, surgical, major mechanical, major radiological, and reoperation. Modifiable risk factors included smoking, obesity, osteoporosis, alcohol use, depression, psychiatric diagnosis, and hypertension. Patients were stratified by the degree of baseline deformity (low degree of deformity (LowDef)/high degree of deformity (HighDef): below or above 20°) and age (Older/Younger: above or below 65 years). Complication rates were compared for modifiable risk factors in each age/deformity group, using multivariable logistic regression analysis to adjust for confounders.


The Bone & Joint Journal
Vol. 106-B, Issue 12 | Pages 1469 - 1476
1 Dec 2024
Matsuo T Kanda Y Sakai Y Yurube T Takeoka Y Miyazaki K Kuroda R Kakutani K

Aims

Frailty has been gathering attention as a factor to predict surgical outcomes. However, the association of frailty with postoperative complications remains controversial in spinal metastases surgery. We therefore designed a prospective study to elucidate risk factors for postoperative complications with a focus on frailty.

Methods

We prospectively analyzed 241 patients with spinal metastasis who underwent palliative surgery from June 2015 to December 2021. Postoperative complications were assessed by the Clavien-Dindo classification; scores of ≥ Grade II were defined as complications. Data were collected regarding demographics (age, sex, BMI, and primary cancer) and preoperative clinical factors (new Katagiri score, Frankel grade, performance status, radiotherapy, chemotherapy, spinal instability neoplastic score, modified Frailty Index-11 (mFI), diabetes, and serum albumin levels). Univariate and multivariate analyses were developed to identify risk factors for postoperative complications (p < 0.05).


The Bone & Joint Journal
Vol. 105-B, Issue 8 | Pages 920 - 927
1 Aug 2023
Stanley AL Jones TJ Dasic D Kakarla S Kolli S Shanbhag S McCarthy MJH

Aims

Traumatic central cord syndrome (CCS) typically follows a hyperextension injury and results in motor impairment affecting the upper limbs more than the lower, with occasional sensory impairment and urinary retention. Current evidence on mortality and long-term outcomes is limited. The primary aim of this study was to assess the five-year mortality of CCS, and to determine any difference in mortality between management groups or age.

Methods

Patients aged ≥ 18 years with a traumatic CCS between January 2012 and December 2017 in Wales were identified. Patient demographics and data about injury, management, and outcome were collected. Statistical analysis was performed to assess mortality and between-group differences.


The Bone & Joint Journal
Vol. 104-B, Issue 6 | Pages 715 - 720
1 Jun 2022
Dunsmuir RA Nisar S Cruickshank JA Loughenbury PR

Aims

The aim of the study was to determine if there was a direct correlation between the pain and disability experienced by patients and size of their disc prolapse, measured by the disc’s cross-sectional area on T2 axial MRI scans.

Methods

Patients were asked to prospectively complete visual analogue scale (VAS) and Oswestry Disability Index (ODI) scores on the day of their MRI scan. All patients with primary disc herniation were included. Exclusion criteria included recurrent disc herniation, cauda equina syndrome, or any other associated spinal pathology. T2 weighted MRI scans were reviewed on picture archiving and communications software. The T2 axial image showing the disc protrusion with the largest cross sectional area was used for measurements. The area of the disc and canal were measured at this level. The size of the disc was measured as a percentage of the cross-sectional area of the spinal canal on the chosen image. The VAS leg pain and ODI scores were each correlated with the size of the disc using the Pearson correlation coefficient (PCC). Intraobserver reliability for MRI measurement was assessed using the interclass correlation coefficient (ICC). We assessed if the position of the disc prolapse (central, lateral recess, or foraminal) altered the symptoms described by the patient. The VAS and ODI scores from central and lateral recess disc prolapses were compared.


The Bone & Joint Journal
Vol. 104-B, Issue 1 | Pages 120 - 126
1 Jan 2022
Kafle G Garg B Mehta N Sharma R Singh U Kandasamy D Das P Chowdhury B

Aims

The aims of this study were to determine the diagnostic yield of image-guided biopsy in providing a final diagnosis in patients with suspected infectious spondylodiscitis, to report the diagnostic accuracy of various microbiological tests and histological examinations in these patients, and to report the epidemiology of infectious spondylodiscitis from a country where tuberculosis (TB) is endemic, including the incidence of drug-resistant TB.

Methods

A total of 284 patients with clinically and radiologically suspected infectious spondylodiscitis were prospectively recruited into the study. Image-guided biopsy of the vertebral lesion was performed and specimens were sent for various microbiological tests and histological examinations. The final diagnosis was determined using a composite reference standard based on clinical, radiological, serological, microbiological, and histological findings. The overall diagnostic yield of the biopsy, and that for each test, was calculated in light of the final diagnosis.


The Bone & Joint Journal
Vol. 103-B, Issue 7 | Pages 1309 - 1316
1 Jul 2021
Garg B Bansal T Mehta N

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.


The Bone & Joint Journal
Vol. 103-B, Issue 1 | Pages 131 - 140
1 Jan 2021
Lai MKL Cheung PWH Samartzis D Karppinen J Cheung KMC Cheung JPY

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.


The Bone & Joint Journal
Vol. 103-B, Issue 4 | Pages 739 - 745
1 Apr 2021
Mehta JS Hodgson K Yiping L Kho JSB Thimmaiah R Topiwala U Sawlani V Botchu R

Aims

To benchmark the radiation dose to patients during the course of treatment for a spinal deformity.

Methods

Our radiation dose database identified 25,745 exposures of 6,017 children (under 18 years of age) and adults treated for a spinal deformity between 1 January 2008 and 31 December 2016. Patients were divided into surgical (974 patients) and non-surgical (5,043 patients) cohorts. We documented the number and doses of ionizing radiation imaging events (radiographs, CT scans, or intraoperative fluoroscopy) for each patient. All the doses for plain radiographs, CT scans, and intraoperative fluoroscopy were combined into a single effective dose by a medical physicist (milliSivert (mSv)).


The Bone & Joint Journal
Vol. 103-B, Issue 3 | Pages 542 - 546
1 Mar 2021
Milosevic S Andersen GØ Jensen MM Rasmussen MM Carreon L Andersen MØ Simony A

Aims

The aim of this study was to investigate the efficacy of coccygectomy in patients with persistent coccydynia and coccygeal instability.

Methods

The Danish National Spine Registry, DaneSpine, was used to identify 134 consecutive patients who underwent surgery, performed by a single surgeon between 2011 and 2019. Routine demographic data, surgical variables, and patient-reported outcomes, including a visual analogue scale (VAS) (0 to 100) for pain, Oswestry Disability Index (ODI), EuroQol five-dimension questionnaire (EQ-5D), and the Physical Component Score (PCS) and Mental Component Score (MCS) of the 36-Item Short-Form Health Survey questionnaire (SF-36) were collected at baseline and one-year postoperatively.


The Bone & Joint Journal
Vol. 103-B, Issue 4 | Pages 725 - 733
1 Apr 2021
Lai MKL Cheung PWH Samartzis D Karppinen J Cheung KMC Cheung JPY

Aims

The aim of this study was to determine the differences in spinal imaging characteristics between subjects with or without lumbar developmental spinal stenosis (DSS) in a population-based cohort.

Methods

This was a radiological analysis of 2,387 participants who underwent L1-S1 MRI. Means and ranges were calculated for age, sex, BMI, and MRI measurements. Anteroposterior (AP) vertebral canal diameters were used to differentiate those with DSS from controls. Other imaging parameters included vertebral body dimensions, spinal canal dimensions, disc degeneration scores, and facet joint orientation. Mann-Whitney U and chi-squared tests were conducted to search for measurement differences between those with DSS and controls. In order to identify possible associations between DSS and MRI parameters, those who were statistically significant in the univariate binary logistic regression were included in a multivariate stepwise logistic regression after adjusting for demographics. Odds ratios (ORs) and 95% confidence intervals (CIs) were reported where appropriate.