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Orthopaedic Proceedings
Vol. 104-B, Issue SUPP_9 | Pages 15 - 15
1 Oct 2022
Compte R Freidin M Williams F
Full Access

Background. Intervertebral disc degeneration (DD) is a complex age-related condition that constitutes the main risk factor for disabling back pain. DD is assessed using different traits extracted from MR imaging (MRI), normally combined to give summary measures (e.g. Pfirmann score). The aetiology of DD is poorly understood and despite its high heritability (75%), the precise genetic predisposition is yet to be defined. Genome wide association study (GWAS) is used to discover genetic variants associated with a disease or phenotype. It tests variants across the whole genome. It requires large samples to provide adequate but unfortunately there is poor availability of spine imaging data due to the high cost of MRI. We have adopted new methods to examine different MRI traits independently and use the information of those traits to boost GWAS power using specialized statistical software for jointly analyse correlated traits. Methods/Results. We examined DD MRI features disc narrowing, disc bulge, disc signal intensity and osteophyte formation in the TwinsUK cohort who had undergone T2-weighted sagittal spine MRI. GWAS were performed on the four traits. MTAG software was used to boost single trait GWAS power using the information in the other trait GWAS. 9 different loci were identified. Conclusions. Preliminary results suggest genes GDF6, SP1/SP7 are associated with individual trait signal intensity. In addition, novel associated genes with potential for shedding new light on pathogenic mechanisms are identified. Additional cohorts will be included in the design as a replication to test reproducibility of the results. Conflicts of interest: No conflicts of interest. Sources of funding: Funded by Disc4All, EU Horizon 2020, MSCA-2020-ITN-ETN GA: 955735


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 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 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.


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.


Bone & Joint Research
Vol. 12, Issue 3 | Pages 189 - 198
7 Mar 2023
Ruiz-Fernández C Ait Eldjoudi D González-Rodríguez M Cordero Barreal A Farrag Y García-Caballero L Lago F Mobasheri A Sakai D Pino J Gualillo O

Aims

CRP is an acute-phase protein that is used as a biomarker to follow severity and progression in infectious and inflammatory diseases. Its pathophysiological mechanisms of action are still poorly defined. CRP in its pentameric form exhibits weak anti-inflammatory activity. The monomeric isoform (mCRP) exerts potent proinflammatory properties in chondrocytes, endothelial cells, and leucocytes. No data exist regarding mCRP effects in human intervertebral disc (IVD) cells. This work aimed to verify the pathophysiological relevance of mCRP in the aetiology and/or progression of IVD degeneration.

Methods

We investigated the effects of mCRP and the signalling pathways that are involved in cultured human primary annulus fibrosus (AF) cells and in the human nucleus pulposus (NP) immortalized cell line HNPSV-1. We determined messenger RNA (mRNA) and protein levels of relevant factors involved in inflammatory responses, by quantitative real-time polymerase chain reaction (RT-qPCR) and western blot. We also studied the presence of mCRP in human AF and NP tissues by immunohistochemistry.


The Bone & Joint Journal
Vol. 104-B, Issue 11 | Pages 1242 - 1248
1 Nov 2022
Yang X Arts MP Bartels RHMA Vleggeert-Lankamp CLA

Aims

The aim of this study was to investigate whether the type of cervical disc herniation influences the severity of symptoms at the time of presentation, and the outcome after surgical treatment.

Methods

The type and extent of disc herniation at the time of presentation in 108 patients who underwent anterior discectomy for cervical radiculopathy were analyzed on MRI, using a four-point scale. These were dichotomized into disc bulge and disc herniation groups. Clinical outcomes were evaluated using the Neck Disability Index (NDI), 36-Item Short Form Survey (SF-36), and a visual analogue scale (VAS) for pain in the neck and arm at baseline and two years postoperatively. The perceived recovery was also assessed at this time.


Orthopaedic Proceedings
Vol. 94-B, Issue SUPP_XXXI | Pages 35 - 35
1 Jul 2012
Tsirikos AI
Full Access

Purpose of the study. Two patients with very severe thoracolumbar Scheuermann's kyphosis who developed spontaneous bony fusion across the apex of the deformity are presented and their treatment, as well as surgical outcome is discussed. Summary of Background Data. Considerable debate exists regarding the pathogenesis, natural history and treatment of Scheuermann's kyphosis. Surgical correction is indicated in the presence of severe kyphosis which carries the risk of neurological complications, persistent back pain and significant cosmetic deformity. Methods. We reviewed the medical notes and radiographs of 2 adolescent patients with severe thoracolumbar Scheuermann's kyphosis who developed spontaneous posterior and anteroposterior fusion across the apex of the deformity. Results. Patient 1. A male patient aged 17 years and 11 months underwent kyphosis correction when the deformity measured 115o and only corrected to 100o on supine hyperextension radiograph against the bolster; he had a small associated scoliosis. The surgery involved a combined single-stage anterior and posterior spinal arthrodesis T4-L3 with the use of posterior pedicle hook/screw/rod instrumentation and autologous rib graft. The anterior longitudinal ligament was ossified from T10 to L1 with bridging osteophytes extending circumferentially from T11 to T12 at the apex of kyphosis and displacing the major vessels anteriorly. The intervertebral discs from T9 to T12 were very stenotic and immobile. The osteophytes were excised both on the convexity and concavity of the associated thoracolumbar scoliosis. The anterior longitudinal ligament was released and complete discectomies back to the posterior longitudinal ligament were performed from T7 to L1. During the posterior exposure, the spine was found to be spontaneously fused across the apex of the kyphosis from T9 to L1. There were no congenital vertebral anomalies. Extensive posterior apical closing wedge osteotomies were performed from T7 to T12. The fused facets and ossified ligamentum flavum were excised and the spine was mobilised at completion of the anterior and posterior osteotomies. The kyphosis was corrected using a cantilever maneuver from proximal to distal under spinal cord monitoring. Excellent correction to 58o was achieved and maintained at follow-up. Autologous rib graft was used to enhance a solid bony fusion. Patient 2. A female patient aged 18 years and one month underwent kyphosis correction when the deformity measured 115o and only corrected to 86o on supine hyperextension radiograph against the bolster; she had a small thoracolumbar scoliosis. The surgery involved a single-stage posterior spinal arthrodesis T2-L4 with the use of posterior pedicle hook/screw/rod instrumentation and autologous iliac crest bone. The spine was spontaneously fused across the apex of kyphosis from T9 to L1. There were no congenital vertebral anomalies. Extensive posterior apical closing wedge osteotomies were performed from T6 to T12. The fused facets and ossified ligamentum flavum were excised and the spine was mobilised at completion of the osteotomies. The kyphosis was corrected using a cantilever maneuver from proximal to distal under spinal cord monitoring. Excellent correction to 60o was achieved and maintained at follow-up. Autologous iliac crest graft was used to achieve a solid bony fusion. In both patients the preoperative MRI assessed the intraspinal structures but failed to diagnose the solid fusion across the posterior bony elements at the apex of kyphosis. A CT scan with 3D reconstruction would have illustrated the bony anatomy across the kyphosis giving valuable information to assist surgical planning. This is recommended in the presence of rigid thoracolumbar Scheuermann's kyphosis which does not correct in hyperextension, especially if the plain radiograph shows anterior bridging osteophytes. Conclusion. Spontaneous posterior or anteroposterior fusion can occur across the apex of severe thoracolumbar Scheuermann's kyphosis; this should be taken into account when surgical correction is anticipated. The bony ankylosis may represent the natural history of an extreme deformity as an attempt of the spine to auto-stabilise. A combination of factors including a rigid deformity, which limits significantly active movement of the spine, as well as anterior vertebral body wedging with severe adjacent disc stenosis which induces bridging osteophyte formation may result in the development of spontaneous fusion across the apex of the kyphosis either posteriorly or anteroposteriorly. In the presence of an isolated posterior fusion, segmental posterior closing wedge osteotomies with complete excision of the ossified ligamentum flavum and fused facets should mobilise the thoracolumbar spine and allow for kyphosis correction. An additional anterior spinal release including complete discectomies, resection of the anterior longitudinal ligament and osteophytes is required if the bony fusion extends anteroposteriorly. Patients with Scheuermann's kyphosis should be ideally treated at an earlier stage and with a lesser degree of deformity so that this ossification process is prevented


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. 101-B, Issue 5 | Pages 621 - 624
1 May 2019
Pumberger M Bürger J Strube P Akgün D Putzier M

Aims

During revision procedures for aseptic reasons, there remains a suspicion that failure may have been the result of an undetected subclinical infection. However, there is little evidence available in the literature about unexpected positive results in presumed aseptic revision spine surgery. The aims of our study were to estimate the prevalence of unexpected positive culture using sonication and to evaluate clinical characteristics of these patients.

Patients and Methods

All patients who underwent a revision surgery after instrumented spinal surgery at our institution between July 2014 and August 2016 with spinal implants submitted for sonication were retrospectively analyzed. Only revisions presumed as aseptic are included in the study. During the study period, 204 spinal revisions were performed for diagnoses other than infection. In 38 cases, sonication cultures were not obtained, leaving a study cohort of 166 cases. The mean age of the cohort was 61.5 years (sd 20.4) and there were 104 female patients


The Bone & Joint Journal
Vol. 98-B, Issue 2 | Pages 238 - 243
1 Feb 2016
Qian L Li P Wu W Fang Y Zhang J Ouyang J

Aims

This study aimed to determine the relationship between pedicle-lengthening distance and bulge-canal volume ratio in cases of lumbar spinal stenosis, to provide a theoretical basis for the extent of lengthening in pedicle-lengthening osteotomies.

Methods

Three-dimensional reconstructions of CT images were performed for 69 patients (33 men and 36 women) (mean age 49.96 years; 24 to 81). Simulated pedicle-lengthening osteotomies and disc bulge and spinal canal volume calculations were performed using Mimics software.


The Journal of Bone & Joint Surgery British Volume
Vol. 92-B, Issue 11 | Pages 1548 - 1552
1 Nov 2010
Song K Johnson JS Choi B Wang JC Lee K

We evaluated the efficacy of anterior fusion alone compared with combined anterior and posterior fusion for the treatment of degenerative cervical kyphosis. Anterior fusion alone was undertaken in 15 patients (group A) and combined anterior and posterior fusion was carried out in a further 15 (group B). The degree and maintenance of the angle of correction, the incidence of graft subsidence, degeneration at adjacent levels and the rate of fusion were assessed radiologically and clinically and the rate of complications recorded. The mean angle of correction in group B was significantly higher than in group A (p = 0.0009). The mean visual analogue scale and the neck disability index in group B was better than in group A (p = 0.043, 0.0006). The mean operation time and the blood loss in B were greater than in group A (p < 0.0001, 0.037). Pseudarthrosis, subsidence of the cage, and problems related to the hardware were more prevalent in group A than in group B (p = 0.034, 0.025, 0.013).

Although the combined procedure resulted in a longer operating time and greater blood loss than with anterior fusion alone, our results suggest that for the treatment of degenerative cervical kyphosis the combined approach leads to better maintenance of sagittal alignment, a higher rate of fusion, a lower incidence of complications and a better clinical outcome.


The Journal of Bone & Joint Surgery British Volume
Vol. 89-B, Issue 5 | Pages 639 - 641
1 May 2007
Iencean SM

We present a novel method of performing an ‘open-door’ cervical laminoplasty. The complete laminotomy is sited on alternate sides at successive levels, thereby allowing the posterior arch to be elevated to alternate sides. Foraminotomies can be carried out on either side to relieve root compression. The midline structures are preserved.

We undertook this procedure in 23 elderly patients with a spondylotic myelopathy. Each was assessed clinically and radiologically before and after their operation.

Follow-up was for a minimum of three years (mean 4.5 years; 3 to 7). Using the modified Japanese Orthopaedic Association scoring system, the mean pre-operative score was 8.1 (6 to 10), which improved post-operatively to a mean of 12.7 (11 to 14). The mean percentage improvement was 61% (50% to 85.7%) after three years. The canal/vertebral body ratio improved from a mean of 0.65 (0.33 to 0.73) pre-operatively to 0.94 (0.5 to 1.07) postoperatively.

Alternating cervical laminoplasty can be performed safely in elderly patients with minimal morbidity and good results.