1. |
- Grauers, Anna, et al.
(författare)
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Candidate gene analysis and exome sequencing confirm LBX1 as a susceptibility gene for idiopathic scoliosis
- 2015
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Ingår i: The Spine Journal. - Stockholm : Karolinska Institutet, Dept of Clinical Science, Intervention and Technology. - 1529-9430 .- 1878-1632.
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Tidskriftsartikel (refereegranskat)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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2. |
- Lagerbäck, Tobias, et al.
(författare)
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An observational study on the outcome after surgery for lumbar disc herniation in adolescents compared to adults based on the Swedish Spine Register
- 2015
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Ingår i: The Spine Journal. - Stockholm : Karolinska Institutet, Dept of Clinical Science, Intervention and Technology. - 1529-9430. ; 15:6, s. 1241-1247
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND CONTEXT: Disc-related sciatica has a prevalence of about 2% in adults, but is rare in adolescents. If conservative treatment is unsuccessful, surgery is an option. PURPOSE: The aim of this study was to compare the outcomes of surgery for lumbar disc herniation in adolescents with adults in the Swedish Spine Register. STUDY DESIGN/SETTING: This is a prospective observational study: National Quality Register. PATIENT SAMPLE: This study included 151 patients, 18 years or younger, 4,386 patients, 19-39 years, and 6,078 patients, 40 years or older, followed for 1-2 years after surgery. OUTCOME MEASURES: The primary outcomes were patient satisfaction and global assessment of leg and back pain. Secondary outcomes were Visual Analog Scale ( VAS) leg pain, VAS back pain, Oswestry disability index (ODI), and EuroQol-5 dimensions (EQ-5D). METHODS: Statistical analyses were performed with the Welch F test, the chi-square test, and the Wilcoxon signed-rank test. RESULTS: At follow-up, 86% of the adolescents were satisfied compared with 78% in the younger adults and 76% in the older adults group (p < .001). According to the global assessment, significantly decreased leg pain was experienced by 87% of the adolescents, 78% of the younger adults, and 71% of the older adults (p < .001). Corresponding figures for back pain were 88%, 73%, and 70%, respectively (p < .001). All groups experienced significant postoperative improvement of VAS leg pain, VAS back pain, ODI, and EQ-5D (all p < .001). CONCLUSIONS: The adolescent age group was more satisfied with the treatment than the adult groups. There was a significant improvement in all age groups after surgery.
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3. |
- Abbott, Rebecca, et al.
(författare)
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The qualitative grading of muscle fat infiltration in whiplash using fat and water magnetic resonance imaging
- 2018
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Ingår i: The spine journal. - : ELSEVIER SCIENCE INC. - 1529-9430 .- 1878-1632. ; 18:5, s. 717-725
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND CONTEXT: The development of muscle fat infiltration (MFI) in the neck muscles is associated with poor functional recovery following whiplash injury. Custom software and time-consuming manual segmentation of magnetic resonance imaging (MRI) is required for quantitative analysis and presents as a barrier for clinical translation. PURPOSE: The purpose of this work was to establish a qualitative MRI measure for MFI and evaluate its ability to differentiate between individuals with severe whiplash-associated disorder (WAD), mild or moderate WAD, and healthy controls. STUDY DESIGN/SETTING: This is a cross-sectional study. PATIENT SAMPLE: Thirty-one subjects with WAD and 31 age-and sex-matched controls were recruited from an ongoing randomized controlled trial. OUTCOME MEASURES: The cervical multifidus was visually identified and segmented into eighths in the axial fat/water images (C4-C7). Muscle fat infiltration was assessed on a visual scale: 0 for no or marginal MFI, 1 for light MFI, and 2 for distinct MFI. The participants with WAD were divided in two groups: mild or moderate and severe based on Neck Disability Index % scores. METHODS: The mean regional MFI was compared between the healthy controls and each of the WAD groups using the Mann-Whitney U test. Receiver operator characteristic (ROC) analyses were carried out to evaluate the validity of the qualitative method. RESULTS: Twenty (65%) patients had mild or moderate disability and 11 (35%) were considered severe. Inter- and intra-rater reliability was excellent when grading was averaged by level or when frequency of grade II was considered. Statistically significant differences (pamp;lt;.05) in regional MFI were particularly notable between the severe WAD group and healthy controls. The ROC curve, based on detection of distinct MFI, showed an area-under-the curve of 0.768 (95% confidence interval 0.59-0.94) for discrimination of WAD participants. CONCLUSIONS: These preliminary results suggest a qualitative MRI measure for MFI is reliable and valid, and may prove useful toward the classification of WAD in radiology practice. (C) 2017 Elsevier Inc. All rights reserved.
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4. |
- Axén, Iben, et al.
(författare)
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Using few and scattered time points for analysis of a variable course of pain can be misleading : an example using weekly text message data
- 2014
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Ingår i: The spine journal. - : Elsevier. - 1529-9430 .- 1878-1632. ; 14:8, s. 1454-1459
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Tidskriftsartikel (refereegranskat)abstract
- Background context: Because low back pain (LBP) is a fluctuating condition, the diversity in the prediction literature may be due to when the outcome is measured.Purpose: The objective of this study was to investigate the prediction of LBP using an outcome measured at several time points.Study design/setting: A multicenter clinical observational study in Sweden.Patient sample: Data were collected on 244 subjects with nonspecific LBP. The mean age of the subjects was 44 years, the mean pain score at inclusion was 4.4/10, and 51% of the sample had experienced LBP for more than 30 days the previous year.Outcome measures: The outcome used in this study was the “number of days with bothersome pain” collected with weekly text messages for 6 months.Methods: In subjects with nonspecific LBP, weekly data were available for secondary analyses. A few baseline variables were chosen to investigate prediction at different time points: pain intensity, the presence of leg pain, duration of LBP the previous year, and self-rated health at baseline. Age and gender acted as additional covariates.Results: In the multilevel models, the predictive variables interacted with time. Thus, the risk of experiencing a day with bothersome LBP varied over time. In the logistic regression analyses, the predictive variable's previous duration showed a consistent predictive ability for all the time points. However, the variables pain intensity, leg pain, and self-rated health showed inconsistent predictive patterns.Conclusions: An outcome based on frequently measured data described the variability in the prediction of future LBP over time. Prediction depended on when the outcome was measured. These results may explain the diversity of the results of the predictor studies in the literature.
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5. |
- Berg, Svante, 1953-, et al.
(författare)
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Disc height and motion patterns in the lumbar spine in patients treated with total disc replacement or fusion for discogenic back pain : Results from a randomized controlled trial
- 2011
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Ingår i: The spine journal. - : Elsevier. - 1529-9430 .- 1878-1632. ; 11:11, s. 991-998
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Tidskriftsartikel (refereegranskat)abstract
- Study Design. Comparison of X-ray measurements in a randomized controlled trial between instrumented posterior fusion (N=72) and total disc replacement (TDR) (N=80) for chronic low back pain assumed to be discogenic. Results were compared to clinical outcome. Objective. To see if surgical goals for respective treatments had been reached, if clinical outcome was related to this, and if differences in disc height and adjacent segment motion patterns between groups occurred. Summary of Background Data. Fusion is considered the “gold standard” in surgical treatment of degenerated disc disease, though the resulting stiffness may induce degeneration in adjacent segments. TDR aims to restore and maintain mobility by replacing a painful disc. Little is known about the degree and quality of mobility in artificial discs in vivo, and whether maintained mobility reduces stress on adjacent segments. Methods. Flexion-extension X-rays were analyzed pre- and two years postoperatively using Distortion Compensated Roentgen Analysis (DCRA) at treated and adjacent levels, mobility following fusion and TDR was estimated. Changes in disc height and changes in mobility patterns in adjacent segments were compared. The results were compared with clinical outcome regarding back pain. Results. 78% of fused patients had no mobility whereas 89% of TDR-patients were mobile, but with less than normal mobility. The fulfilment of surgical goals was not correlated to clinical outcome. Fused segments were lower and TDR-segments were higher than normal. There were minor differences, there being more translation or flexion-extension at adjacent levels in the fusion group than in the TDR group. Conclusions. This very accurate X-ray method (DCRA) indicates that surgical goals were reached in most patients. This however, was not correlated to outcome. Differences between the groups in postoperative disc height and motion patterns at adjacent segments may lead to differences in outcome in the long-term perspective, but this was not detectable after two years.
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7. |
- Berg, Svante, et al.
(författare)
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Sex life and sexual function in men and women before and after total disc replacement compared with posterior lumbar fusion
- 2009
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Ingår i: The spine journal. - : Elsevier BV. - 1529-9430 .- 1878-1632. ; 9:12, s. 987-994
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Tidskriftsartikel (refereegranskat)abstract
- Background contextSex life and sexual function may be affected by low back pain (LBP). Sexual dysfunction after anterior lumbar fusion is reported in both men and women, but focus is mainly on impaired male biological function (retrograde ejaculation) as this may cause infertility. This has led to concern as to whether anterior surgery should be employed in men, at least in younger age groups.PurposeTo investigate how chronic low back pain (CLBP) of assumed discogenic origin affects sex life and sexual function in patients considered for surgical treatment, whether this is affected by surgical treatment (total disc replacement [TDR] or posterolateral fusion [PLF]/posterior lumbar interbody fusion [PLIF]), and if so, are there differences between the surgical procedures undertaken.Study designA randomized controlled trial comparing TDR and instrumented lumbar spine fusion, performed either as a PLF or PLIF.Patient sampleOne hundred fifty-two patients were included in this randomized controlled trial to compare the effect on CLBP of either TDR via an anterior retroperitoneal approach or instrumented posterior lumbar fusion, PLF or PLIF.Outcome measuresGlobal assessment of back pain, back pain (visual analog scale [VAS] 0-100), function (Oswestry Disability Index [ODI] 0–100), quality of life (EQ5D [EuroQol] 0–1), and answers on specific sexual function.MethodsOutcome was assessed using data from the Swedish Spine Register (SweSpine). In ODI, one question, ODI 8, reflects the impact of back pain on sex life. This question was analyzed separately. Patients also answered a gender-specific questionnaire preoperatively and at the 2-year follow-up to determine any sexual dysfunction regarding erection, orgasm, and ejaculation. Follow-up was at 1 and 2 years.ResultsBefore surgery, 34% reported that their sex life caused some extra LBP, and an additional 30% that their sex life was severely restricted by LBP. After surgery, sex life improved in both groups, with a strong correlation to a reduction of LBP. The gender-specific questionnaire used to measure sexual function after 2 years revealed no negative effect of TDR or Fusion in men regarding erection or retrograde ejaculation. However, 26% of all men in the Fusion group, compared with 3% in the TDR group, reported postoperative deterioration in the ability to achieve orgasm, despite a reduction of LBP.ConclusionsImpairment of sex life appears to be related to CLBP. An improvement in sex life after TDR or lumbar fusion was positively correlated to a reduction in LBP. Total disc replacement in this study, performed through an anterior retroperitoneal approach, was not associated with greater sexual dysfunction compared with instrumented lumbar fusion performed either as a PLF or as a PLIF. Sexual function, expressed as orgasm, deteriorated in men in the Fusion group postoperatively, in spite of this group reporting less LBP after 2 years.
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9. |
- Berglund, Lars, et al.
(författare)
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Sagittal lumbopelvic alignment in patients with low back pain and the effects of a high-load lifting exercise and individualized low-load motor control exercises : a randomized controlled trial
- 2018
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Ingår i: The spine journal. - : Elsevier. - 1529-9430 .- 1878-1632. ; 18:3, s. 399-406
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Tidskriftsartikel (refereegranskat)abstract
- Background Context Assessment of posture and lumbopelvic alignment is often the main focus in the classification and treatment of patients with low back pain (LBP). However, little is known regarding the effects of motor control interventions on objective measures of lumbopelvic alignment.Purpose The primary aim of this study was to describe the variation of sagittal lumbopelvic alignment in patients with nociceptive mechanical LBP. The secondary aim was to compare the effects of a high-load lifting exercise (HLL) and low-load motor control exercises (LMC) on the change in lumbopelvic alignment with a special emphasis on patients with high and low degrees of lumbar lordosis (lu) and sacral angle (sa).Study Design This study is a secondary analysis of a randomized controlled trial evaluating the effects of HLL and LMC.Patient Sample Patients from the primary study, that is, patients categorized with nociceptive mechanical LBP, who agreed to participate in the radiographic examination were included (n=66).Outcome Measures Lateral plain radiographic images were used to evaluate lumbopelvic alignment regarding the lumbar lordosis and the sacral angle as outcomes, with posterior bend as an explanatory variable.Materials and Methods The participants were recruited to the study from two occupational health-care facilities. They were randomized to either the HLL or the LMC intervention group and offered 12 supervised exercise sessions. Outcome measures were collected at baseline and following the end of intervention period 2 months after baseline. Between- and within-group analyses of intervention groups and subgroups based on the distribution of the baseline values for the lumbar lordosis and the sacral angle, respectively (LOW, MID, and HIGH), were performed using both parametric and non-parametric statistics.Results The ranges of values for the present sample were 26.9–91.6° (M=59.0°, standard deviation [SD]=11.5°) for the lumbar lordosis and 18.2–72.1° (M=42.0°, SD=9.6°) for the sacral angle. There were no significant differences between the intervention groups in the percent change of eitheroutcome measure. Neither did any outcome change significantly over time within the intervention groups. In the subgroups, based on the distribution of respective baseline values, LOWlu showed a significantly increased lumbar lordosis, whereas HIGHsa showed a significantly decreased sacral angle following intervention.Conclusions This study describes the wide distribution of values for lumbopelvic alignment for patients with nociceptive mechanical LBP. Further research is needed to investigate subgroups of other types of LBP and contrast findings to those presented in this study. Our results also suggest that retraining of the lumbopelvic alignment could be possible for patients with LBP.
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10. |
- Borota, Ljubisa, et al.
(författare)
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Spontaneous resorption of intradural lumbar disc fragments
- 2008
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Ingår i: The spine journal. - New York : Elsevier Science Inc.. - 1529-9430 .- 1878-1632. ; 8:2, s. 397-403
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Tidskriftsartikel (refereegranskat)abstract
- Background context: Intradural disc herniation is relatively rare complication of the spinal degenerative process that occurs most frequently in the lumbar part of the spine. Both myelographic and magnetic resonance features of this entity have been described, and the mechanism of intradural herniation has already been proposed and generally accepted. In this article, we present a case of spontaneous resorption of an intradural, fragmented intervertebral disc. Spontaneous resorption of intradural disc fragments has not been previously reported.Purpose: To discuss a possible mechanism of spontaneous resorption of the subdural disc fragments.Study design: Case report and literature review.Methods: Radiological follow-up of a 46-year-old man with the intradural herniation of disc fragments.Conclusion: The reaction generated by the meninges might lead to the complete resorption of intrathecally localized disc fragments.
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