1. |
- Brink, Rob C., et al.
(author)
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Three-dimensional pelvic incidence is much higher in (thoraco)lumbar scoliosis than in controls
- 2019
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In: European spine journal. - Heidelberg : Springer. - 0940-6719 .- 1432-0932. ; 28:3, s. 544-550
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Journal article (peer-reviewed)abstract
- PurposeThe pelvic incidence (PI) is used to describe the sagittal spino-pelvic alignment. In previous studies, radiographs were used, leading to less accuracy in establishing the three-dimensional (3D) spino-pelvic parameters. The purpose of this study is to analyze the differences in the 3D sagittal spino-pelvic alignment in adolescent idiopathic scoliosis (AIS) subjects and non-scoliotic controls.MethodsThirty-seven female AIS patients that underwent preoperative supine low-dose computed tomography imaging of the spine, hips and pelvis as part of their general workup were included and compared to 44 non-scoliotic age-matched female controls. A previously validated computerized method was used to measure the PI in 3D, as the angle between the line orthogonal to the inclination of the sacral endplate and the line connecting the center of the sacral endplate with the hip axis.ResultsThe PI was on average 46.8° ± 12.4° in AIS patients and 41.3° ± 11.4° in controls (p = 0.025), with a higher PI in Lenke type 5 curves (50.6° ± 16.2°) as compared to controls (p = 0.042), whereas the Lenke type 1 curves (45.9° ± 12.2°) did not differ from controls (p = 0.141).ConclusionLenke type 5 curves show a significantly higher PI than controls, whereas the Lenke type 1 curves did not differ from controls. This suggests a role of pelvic morphology and spino-pelvic alignment in the pathogenesis of idiopathic scoliosis. Further longitudinal studies should explore the exact role of the PI in the initiation and progression of different AIS types.
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2. |
- Einarsdottir, E., et al.
(author)
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CELSR2 is a candidate susceptibility gene in idiopathic scoliosis
- 2017
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In: PLoS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 12:12
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Journal article (peer-reviewed)abstract
- A Swedish pedigree with an autosomal dominant inheritance of idiopathic scoliosis was initially studied by genetic linkage analysis, prioritising genomic regions for further analysis. This revealed a locus on chromosome 1 with a putative risk haplotype shared by all affected individuals. Two affected individuals were subsequently exome-sequenced, identifying a rare, non-synonymous variant in the CELSR2 gene. This variant is rs141489111, a c. G6859A change in exon 21 (NM_001408), leading to a predicted p. V2287I (NP_001399.1) change. This variant was found in all affected members of the pedigree, but showed reduced penetrance. Analysis of tagging variants in CELSR1-3 in a set of 1739 Swedish-Danish scoliosis cases and 1812 controls revealed significant association (p = 0.0001) to rs2281894, a common synonymous variant in CELSR2. This association was not replicated in case-control cohorts from Japan and the US. No association was found to variants in CELSR1 or CELSR3. Our findings suggest a rare variant in CELSR2 as causative for idiopathic scoliosis in a family with dominant segregation and further highlight common variation in CELSR2 in general susceptibility to idiopathic scoliosis in the Swedish-Danish population. Both variants are located in the highly conserved GAIN protein domain, which is necessary for the auto-proteolysis of CELSR2, suggesting its functional importance.
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3. |
- Gerdhem, P., et al.
(author)
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Serum level of cartilage oligomeric matrix protein is lower in children with idiopathic scoliosis than in non-scoliotic controls
- 2015
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In: European Spine Journal. - : Springer Science and Business Media LLC. - 0940-6719 .- 1432-0932. ; 24:2, s. 256-261
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Journal article (peer-reviewed)abstract
- The etiology of idiopathic scoliosis remains unknown, but growth is a risk factor for progression. Growth pattern differs in children with and without scoliosis. Cartilage oligomeric matrix protein (COMP) may be associated with scoliosis and growth. We, therefore, studied COMP in children with and without idiopathic scoliosis. We included 105 children, with mean age 14.4 years (range 10-16), under observation or treatment for idiopathic scoliosis, and 103 children from an age-matched population-based cohort. COMP was measured in serum at the time of inclusion. Growth velocity was estimated from repeated height measurements. T tests, analysis of covariance or linear regression were used for statistical comparisons. COMP was mean (SD) 11 (5) units/liter (U/L) in children with scoliosis and 13 (5) U/L in the control cohort (p = 0.005, adjusted for sex and sampling time of the day). When patients and controls were analyzed together, high COMP was correlated with high growth velocity (beta = 0.19, p = 0.003). When patients and controls were analyzed separately, COMP was correlated with growth velocity in children with scoliosis (beta = 0.27, p = 0.007), but not in children without scoliosis (beta = 0.02, p = 0.83) (all analyses adjusted for age, sex and sampling time). Low COMP was significantly correlated with large curve size in children with scoliosis (beta = -0.29, p = 0.003), but not after adjustment for age, sex and sampling time (beta = -0.16; p = 0.14). COMP was lower in children with idiopathic scoliosis than in a control cohort. In children with scoliosis, high COMP was modestly correlated with high growth velocity, but not with curve severity.
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4. |
- Grauers, Anna, et al.
(author)
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Candidate gene analysis and exome sequencing confirm LBX1 as a susceptibility gene for idiopathic scoliosis
- 2015
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In: The Spine Journal. - Stockholm : Karolinska Institutet, Dept of Clinical Science, Intervention and Technology. - 1529-9430 .- 1878-1632.
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Journal article (peer-reviewed)abstract
- Background: Idiopathic scoliosis is a spinal deformity affecting approximately 3% of otherwise healthy children or adolescents. The etiology is still largely unknown but has an important genetic component. Genome-wide association studies have identified a number of common genetic variants that are significantly associated with idiopathic scoliosis in Asian and Caucasian populations, rs11190870 close to the LBX1 gene being the most replicated finding. Purpose: The aim of the present study was to investigate the genetics of idiopathic scoliosis in a Scandinavian cohort by performing a candidate gene study of four variants previously shown to be associated with idiopathic scoliosis and exome sequencing of idiopathic scoliosis patients with a severe phenotype to identify possible novel scoliosis risk variants. Study design: This was a case control study. Patient sample: A total of 1,739 patients with idiopathic scoliosis and 1,812 controls were included. Outcome measure: The outcome measure was idiopathic scoliosis. Methods: The variants rs10510181, rs11190870, rs12946942, and rs6570507 were genotyped in 1,739 patients with idiopathic scoliosis and 1,812 controls. Exome sequencing was performed on pooled samples from 100 surgically treated idiopathic scoliosis patients. Novel or rare missense, nonsense, or splice site variants were selected for individual genotyping in the 1,739 cases and 1,812 controls. In addition, the 5′UTR, noncoding exon and promoter regions of LBX1, not covered by exome sequencing, were Sanger sequenced in the 100 pooled samples. Results: Of the four candidate genes, an intergenic variant, rs11190870, downstream of the LBX1 gene, showed a highly significant association to idiopathic scoliosis in 1,739 cases and 1,812 controls (p=7.0×10−18). We identified 20 novel variants by exome sequencing after filtration and an initial genotyping validation. However, we could not verify any association to idiopathic scoliosis in the large cohort of 1,739 cases and 1,812 controls. We did not find any variants in the 5′UTR, noncoding exon and promoter regions of LBX1. Conclusions: Here, we confirm LBX1 as a susceptibility gene for idiopathic scoliosis in a Scandinavian population and report that we are unable to find evidence of other genes of similar or stronger effect.
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5. |
- Ohlin, Acke, et al.
(author)
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Titanium granules pre-treated with hydrogen peroxide inhibit growth of bacteria associated with post-operative infections in spine surgery
- 2018
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In: European Spine Journal. - : Springer Science and Business Media LLC. - 0940-6719 .- 1432-0932. ; 27:10, s. 2463-2468
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Journal article (peer-reviewed)abstract
- © 2018 The Author(s) Purpose: Post-operative infections are relatively common after posterior spine surgery, and there are several observations reflecting different infection complications related to various metals implanted. Here, we selected an array of different bacterial species that are often found in infections associated with orthopaedic implants and tested for inhibition by hydrogen peroxide-treated titanium (Ti-peroxy). Methods: To study the possibility of using Ti-peroxy as an antimicrobial prophylaxis, we developed a protocol for standardized susceptibility testing of bacteria. Results: Importantly, we found that the resulting Ti-peroxy was highly antimicrobial against all aerobic species tested, among others, Staphylococcus aureus and Pseudomonas aeruginosa. Proteus mirabilis was slightly more resistant than, for example, Klebsiella pneumoniae and enterococci. In contrast, anaerobic bacteria Cutibacterium acnes and Parvimonas micra were equally susceptible compared to staphylococci. Conclusions: Our findings suggest that the Ti-peroxy is a promising perioperative antimicrobial strategy that may be highly effective for prevention of post-operative infections. We therefore suggest application of hydrogen peroxide to implants prior to implantation. Graphical abstract: These slides can be retrieved under Electronic supplementary material.[Figure not available: see fulltext.]
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6. |
- Vavruch, Ludvig, et al.
(author)
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Surgical Outcomes of Anterior Versus Posterior Fusion in Lenke Type 1 Adolescent Idiopathic Scoliosis
- 2019
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In: Spine. - : Lippincott Williams & Wilkins. - 0362-2436 .- 1528-1159. ; 44:14, s. E823-E832
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Journal article (peer-reviewed)abstract
- Mini Patients with Lenke type 1 idiopathic scoliosis can be effectively managed surgically with an anterior or posterior approach. However, each approach has specific advantages and challenges, as described in this study, which must be considered before treating each patient.Study Design. Retrospective study.Objective. To describe surgical results in two and three dimensions and patient-reported outcomes of scoliosis treatment for Lenke type 1 idiopathic curves with an open anterior or posterior approach.Summary of Background Data. Different surgical techniques have been described to prevent curve progression and to restore spinal alignment in idiopathic scoliosis. The spine can be accessed via an anterior or a posterior approach. However, the surgical outcomes, especially in three dimensions, for different surgical approaches remain unclear.Methods. Cohorts of Lenke curve type 1 idiopathic scoliosis patients, after anterior or posterior spinal fusion were recruited, to measure curve characteristics on conventional radiographs, before and after surgery and after 2 years follow-up, whereas the vertebral axial rotation, true mid-sagittal anterior–posterior height ratio of individual structures, and spinal height differences were measured on 3D reconstructions of the pre- and postoperative supine low-dose computed tomography (CT) scans. Additionally, the intraoperative parameters were described and the patients completed the SRS-22 and EQ-5D-3L questionnaire postoperatively.Results. Fifty-three patients with Lenke curve type 1 idiopathic scoliosis (26 in the anterior cohort and 27 in the posterior cohort) were analyzed. Fewer vertebrae were instrumented in the anterior cohort compared with the posterior cohort (P < 0.001), with less surgery time and lower intraoperative blood loss (P < 0.001). The Cobb angle correction of the primary thoracic curve directly after surgery was 57 ± 12% in the anterior cohort and 73 ± 12% in the posterior cohort (P < 0.001) and 55 ± 13% and 66 ± 12% (P = 0.001) at 2 years follow-up. Postoperative 3D alignment restoration and questionnaires showed no significant differences between the cohorts.Conclusion. This study suggests that Lenke type 1 curves can be effectively managed surgically with either an open anterior or posterior approach. Each approach, however, has specific advantages and challenges, as described in this study, which must be considered before treating each patient.Level of evidence: 3
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