Aims. Although lumbosacral transitional vertebrae (LSTV) are well-documented, few large-scale studies have investigated thoracolumbar transitional vertebrae (TLTV) and spinal numerical
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
Purpose. Back pain is the primary cause of disability worldwide yet surprisingly little is known of the underlying pathobiology. We conducted a genome-wide association study (GWAS) meta-analysis of chronic back pain (CBP). Adults of European ancestry from 15 cohorts in the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium, and UK Biobank were studied. Methods. CBP cases were defined as reporting back pain present for ≥3–6 months; non-cases were included as comparisons (“controls”). Each cohort conducted genotyping followed by imputation. GWAS used logistic regression with additive genetic effects adjusting for age, sex, study-specific covariates, and population substructure. Suggestive (p<5×10. –7. ) & genome-wide significant (p<5×10. –8. )
Introduction. Lumbosacral transitional vertebrae (LSTV) are increasingly recognized as a common anatomical
Background. Chronic back pain (CBP) is a major cause of disability globally and its causes are multifactorial. Cytomegalovirus (CMV) and Epstein-Barr virus (EBV) are human herpes viruses usually acquired in early life. About 50% and over 90% of the population worldwide have been infected with CMV and EBV, respectively. This study investigated a potential causal relationship between CMV infection and CBP. Method. UK Biobank participants provided information on CMV seropositivity and CBP status, which were available for both traits in 5,140 participants. We used EBV seropositivity as a negative control to identify confounding and inaccurate causal inference. A one-sample Mendelian randomization (MR) based on independent genetic
Introduction. Pulmonary Tuberculosis (TB) can be detected by sputum cultures. However, Extra Pulmonary Spinal Tuberculosis (EPSTB), diagnosis is challenging as it relies on retrieving a sample. It is usually discovered in the late stages of presentation due to its slow onset and vague early presentation. Difficulty in detecting Mycobacterium Tuberculosis bacteria from specimens is well documented and therefore often leads to culture negative results. Diagnostic imaging is helpful to initiate empirical therapy, but growing incidence of multidrug resistant TB adds further challenges. Methods. A retrospective analysis of cases from the Infectious Disease (ID) database with Extra Pulmonary Tuberculosis (EPTB) between 1. st. of January 2015 to 31. st. of January. Two groups were compared 1) Culture Negative TB (CNTB) and 2) Culture Positive TB (CPTB). Audit number was. Results. 31 cases were identified with EPSTB. 68% (n=21) were male. 55% (n=17) patients were Asian, (19% (n=6) were black and 16% (n=5) were of white ethnicity. 90.4% (n=28) patients presented with isolated spinal TB symptoms. No patient had evidence of HBV/HCV/HIV infections. CPTB Group was 51.6% (n=16) compared to CNTB Group with 48.4% (n=15) 48% (15) lumbar involvement, 42% (13) thoracic and 10% (3) cervical. 38.7% (12) patients presented with late neurology, equally in both groups. 56% CPTB patients showed signs of vertebral involvement on plain radiograph compared to 13.3% in CNTB patients. 68.7% CPTB patients had pathological changes or paraspinal collections seen on CT scan compared to 53.3% of CNTB patients. 81% of CPTB showed positive MRI findings compared to 86% in CNTB. Both groups were treated with Anti-TB medications according to local guidelines. 83% patients were followed up till the end of the treatment course. 22.5% (n=7) patients had Ultrasound guided aspiration. 29% (n=9) patients underwent surgical intervention. 3 patients had Laminectomy for decompression. 6 patients underwent Spinal Decompression and Fixation due to extensive bone destruction. No mortality occurred. Conclusion. TB continues to be a growing problem in the developed world with high numbers of patients travelling from endemic regions. 75% of our cases were from Asian or Black ethnicity. The thoracolumbar region was most commonly effected (90%). Approximately 50% of cases of extrapulmonary spinal TB were culture negative. Neurological deficit occurred in 40% patients and 30% of patients required surgery. Standard anti-TB treatment was however effective in all cases with no significant drug resistant
Introduction. Kyphoscoliosis is defined by a structural lateral curvature of the spine of 10° or more and an excessive thoracic kyphotic curve of 40° or more. Genetic analyses of families in which two or more members had kyphoscoliosis identified a 3·5 Mb area on chromosome 5p containing three genes of the Iroquois (IRX) homeobox family, IRX1, IRX2, and IRX4, which were then sequenced. Methods. Exons and highly conserved non-coding regions (HNCRs) 500 kb upstream and downstream fromIRX1, IRX2, and IRX4 were sequenced in 46 individuals from six families. Selection of these elements was based on PhastCons Placental Mammal Conserved Elements, Multiz Alignment. Single-nucleotide polymorphism (SNP) genotypes and sequence
Objective. Modic changes (MC) is a form of intervertebral disc degeneration visible as subchondral and vertebral bone marrow changes on spine magnetic resonance (MR). Their etiology is not understood, but microbial infection may be involved for some subtypes. This study set out to test for an association between MC and gut microbiome in a population sample. Methods. Presence of MC was evaluated in lumbar MR images and gut microbiome assessed using 16S sequencing in TwinsUK dataset (N=309). Cases were identified by the presence of MC of any type, while controls were those without MC. Amplicon sequence
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
Background. The factors influencing normal spine curvature in midlife are unknown. We performed an MR and plain radiograph study on well characterised, unselected twin volunteers from the TwinsUK register (. www.twinsuk.ac.uk. ) to determine the relative contributions of genetic and environmental factors to spine curve. Methods. T2 weighted MR scans and long spine standing radiographs were obtained at the same morning visit on twin pairs. Midline sagittal MR images were coded for 4 degenerative features. SpineviewTM software was applied plain films and calculated the angles of curvature. A classical twin study was performed. Multivariate regression analysis was used to determine the association between spine curves, LDD and confounders (age, body mass index). Results. Data were available on 110 monozygotic (MZ) and 136 dizygotic (DZ) female twins. Mean age was 64.3 years (range 40.1–79.3); age was associated with increasing lumbar lordosis (p=0.02). The AE model (comprising additive genetic and unique environmental factors) was the most suitable model for both lumbar lordosis and thoracic kyphosis (as determined by Akaike information criterion). Heritability estimates = 59% (42–71%) for lumbar lordosis; and 61% (46–74%) for thoracic kyphosis. After adjusting for age and BMI, lumbar lordosis was significantly associated with a number of features of LDD (p<0.001) including disc signal intensity and osteophytes. Conclusion. The twins are known to be representative of women in the general population. Lumbar lordosis and thoracic kyphosis of the spine have considerable heritable component in females suggesting that a search for individual gene
Introduction. Several disorders have been associated with genetic
We carried out a cadaver study of 16 iliolumbar veins in order to define the surgical anatomy. Two
We evaluated the impact of lumbar instrumented
circumferential fusion on the development of adjacent level vertebral
compression fractures (VCFs). Instrumented posterior lumbar interbody
fusion (PLIF) has become a popular procedure for degenerative lumbar
spine disease. The immediate rigidity produced by PLIF may cause
more stress and lead to greater risk of adjacent VCFs. However,
few studies have investigated the relationship between PLIF and
the development of subsequent adjacent level VCFs. Between January 2005 and December 2009, a total of 1936 patients
were enrolled. Of these 224 patients had a new VCF and the incidence
was statistically analysed with other covariants. In total 150 (11.1%)
of 1348 patients developed new VCFs with PLIF, with 108 (72%) cases
at adjacent segment. Of 588 patients, 74 (12.5%) developed new subsequent
VCFs with conventional posterolateral fusion (PLF), with 37 (50%)
patients at an adjacent level. Short-segment fusion, female and
age older than 65 years also increased the development of new adjacent
VCFs in patients undergoing PLIF. In the osteoporotic patient, more
rigid fusion and a higher stress gradient after PLIF will cause
a higher adjacent VCF rate. Cite this article:
The widespread use of MRI has revolutionised
the diagnostic process for spinal disorders. A typical protocol
for spinal MRI includes T1 and T2 weighted sequences in both axial
and sagittal planes. While such an imaging protocol is appropriate
to detect pathological processes in the vast majority of patients,
a number of additional sequences and advanced techniques are emerging.
The purpose of the article is to discuss both established techniques
that are gaining popularity in the field of spinal imaging and to
introduce some of the more novel ‘advanced’ MRI sequences with examples
to highlight their potential uses. Cite this article:
Acute angulation at the thoracolumbar junction
with segmental subluxation of the spine occurring at the level above
an anteriorly hypoplastic vertebra in otherwise normal children
is a rare condition described as infantile developmental thoracolumbar
kyphosis. Three patient series with total of 18 children have been
reported in the literature. We report five children who presented
with thoracolumbar kyphosis and discuss the treatment algorithm. We
reviewed the medical records and spinal imaging at initial clinical
presentation and at minimum two-year follow-up. The mean age at
presentation was eight months (two to 12). All five children had
L2 anterior vertebral body hypoplasia. The kyphosis improved spontaneously
in three children kept under monitoring. In contrast, the deformity
was progressive in two patients who were treated with bracing. The
kyphosis and segmental subluxation corrected at latest follow-up
(mean age 52 months; 48 to 60) in all patients with near complete
reconstitution of the anomalous vertebra. The deformity and radiological
imaging on a young child can cause anxiety to both parents and treating
physicians. Diagnostic workup and treatment algorithm in the management
of infantile developmental thoracolumbar kyphosis is proposed. Observation
is indicated for non-progressive kyphosis and bracing if there is evidence
of kyphosis and segmental subluxation deterioration beyond walking
age. Surgical stabilisation of the spine can be reserved for severe
progressive deformities unresponsive to conservative treatment. Cite this article:
Minimal clinically important differences (MCID)
in the scores of patient-reported outcome measures allow clinicians to
assess the outcome of intervention from the perspective of the patient.
There has been significant variation in their absolute values in
previous publications and a lack of consistency in their calculation. The purpose of this study was first, to establish whether these
values, following spinal surgery, vary depending on the surgical
intervention and their method of calculation and secondly, to assess
whether there is any correlation between the two external anchors
most frequently used to calculate the MCID. We carried out a retrospective analysis of prospectively gathered
data of adult patients who underwent elective spinal surgery between
1994 and 2009. A total of 244 patients were included. There were
125 men and 119 women with a mean age of 54 years (16 to 84); the
mean follow-up was 62 months (6 to 199) The MCID was calculated
using three previously published methods. Our results show that the value of the MCID varies considerably
with the operation and its method of calculation. There was good
correlation between the two external anchors. The global outcome
tool correlated significantly better. We conclude that consensus needs to be reached on the best method
of calculating the MCID. This then needs to be defined for each
spinal procedure. Using a blanket value for the MCID for all spinal
procedures should be avoided. Cite this article:
This short contribution aims to explain how intervertebral disc ‘degeneration’ differs from normal ageing, and to suggest how mechanical loading and constitutional factors interact to cause disc degeneration and prolapse. We suggest that disagreement on these matters in medico-legal practice often arises from a misunderstanding of the nature of ‘soft-tissue injuries’.
Bertolotti’s syndrome is characterised by anomalous enlargement of the transverse process(es) of the most caudal lumbar vertebra which may articulate or fuse with the sacrum or ilium and cause isolated L4/5 disc disease. We analysed the elective MR scans of the lumbosacral spine of 769 consecutive patients with low back pain taken between July 2003 and November 2004. Of these 568 showed disc degeneration. Bertolotti’s syndrome was present in 35 patients with a mean age of 32.7 years (15 to 60). This was a younger age than that of patients with multiple disc degeneration, single-level disease and isolated disc degeneration at the L4/5 level (p ≤ 0.05). The overall incidence of Bertolotti’s syndrome in our study was 4.6% (35 of 769). It was present in 11.4% (20 patients) of the under-30 age group. Our findings suggest that Bertolotti’s syndrome must form part of a list of differential diagnoses in the investigation of low back pain in young people.