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. 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
Methods
The aim of this study was to determine whether
obesity affects pain, surgical and functional outcomes following lumbar
spinal fusion for low back pain (LBP). A systematic literature review and meta-analysis was made of
those studies that compared the outcome of lumbar spinal fusion
for LBP in obese and non-obese patients. A total of 17 studies were
included in the meta-analysis. There was no difference in the pain
and functional outcomes. Lumbar spinal fusion in the obese patient resulted
in a statistically significantly greater intra-operative blood loss
(weighted mean difference: 54.04 ml; 95% confidence interval (CI)
15.08 to 93.00; n = 112; p = 0.007) more complications (odds ratio:
1.91; 95% CI 1.68 to 2.18; n = 43858; p <
0.001) and longer duration
of surgery (25.75 mins; 95% CI 15.61 to 35.90; n = 258; p <
0.001). Obese
patients have greater intra-operative blood loss, more complications
and longer duration of surgery but pain and functional outcome are
similar to non-obese patients. Based on these results, obesity is
not a contraindication to lumbar spinal fusion. Cite this article:
We reviewed 31 consecutive patients with Friedreich’s
ataxia and scoliosis. There were 24 males and seven females with
a mean age at presentation of 15.5 years (8.6 to 30.8) and a mean
curve of 51° (13° to 140°). A total of 12 patients had thoracic
curvatures, 11 had thoracolumbar and eight had double thoracic/lumbar.
Two patients had long thoracolumbar collapsing scoliosis with pelvic
obliquity and four had hyperkyphosis. Left-sided thoracic curves in
nine patients (45%) and increased thoracic kyphosis differentiated
these deformities from adolescent idiopathic scoliosis. There were
17 patients who underwent a posterior instrumented spinal fusion
at mean age of 13.35 years, which achieved and maintained good correction
of the deformity. Post-operative complications included one death due
to cardiorespiratory failure, one revision to address nonunion and
four patients with proximal junctional kyphosis who did not need
extension of the fusion. There were no neurological complications
and no wound infections. The rate of progression of the scoliosis
in children kept under simple observation and those treated with bracing
was less for lumbar curves during bracing and similar for thoracic
curves. The scoliosis progressed in seven of nine children initially
treated with a brace who later required surgery. Two patients presented
after skeletal maturity with balanced curves not requiring correction.
Three patients with severe deformities who would benefit from corrective
surgery had significant cardiac co-morbidities.
We describe the results of a prospective case series of patients with spondylolysis, evaluating a technique of direct stabilisation of the pars interarticularis with a construct that consists of a pair of pedicle screws connected by a U-shaped modular link passing beneath the spinous process. Tightening the link to the screws compresses bone graft in the defect in the pars, providing rigid intrasegmental fixation. We have carried out this procedure on 20 patients aged between nine and 21 years with a defect of the pars at L5, confirmed on CT. The mean age of the patients was 13.9 years (9 to 21). They had a grade I or less spondylolisthesis and no evidence of intervertebral degeneration on MRI. The mean follow-up was four years (2.3 to 7.3). The patients were assessed by the Oswestry Disability Index (ODI) and a visual analogue scale (VAS). At the latest follow-up, 18 patients had an excellent clinical outcome, with a significant (p <
0.001) improvement in their ODI and VAS scores. The mean ODI score at final follow-up was 8%. Assessment of the defect by CT showed a rate of union of 80%. There were no complications involving the internal fixation. The strength of the construct removes the need for post-operative immobilisation.
Low bone mass and osteopenia have been described in the axial and peripheral skeleton of patients with adolescent idiopathic scoliosis (AIS). Recently, many studies have shown that gene polymorphism is related to osteoporosis. However, no studies have linked the association between IL6 gene polymorphism and bone mass in AIS. This study examined the association between bone mass and IL6 gene polymorphism in 198 girls with AIS. The polymorphisms of IL6-597 G→A, IL6-572 G→C and IL6-174 G→A and the bone mineral density in the lumbar spine and femoral neck were analysed and compared with their levels in healthy controls. The mean bone mineral density at both sites in patients with AIS was decreased compared with controls (p = 0.0022 and p = 0.0013, respectively). Comparison of genotype frequencies between AIS and healthy controls revealed a statistically significant difference in IL6-572 G→C polymorphism (p = 0.0305). There was a significant association between the IL6-572 G→C polymorphism and bone mineral density in the lumbar spine, with the CC genotype significantly higher with the GC (p = 0.0124) or GG (p = 0.0066) genotypes. These results suggest that the IL6-572 G→C polymorphism is associated with bone mineral density in the lumbar spine in Korean girls with AIS.
We have treated 175 patients with a chordoma over a ten-year period. Only two had a family history of the condition and we describe these in this paper. In one patient the tumour was at the craniocervical junction and in the other the lesion affected the sacrum. We have undertaken a literature review of familial chordoma and have identified chromosomal abnormalities associated with the condition.