Health-related quality of life outcomes in adolescent Scheuermann's kyphosis patients treated with posterior spinal fusion : A comparison with age- and sex-matched controls

Purpose: To assess the health-related quality of life and radiographic outcomes of surgically treated adolescent Scheuermann's kyphosis patients after minimum of 2-year follow-up and to compare the health-related quality of life with age- and sex-matched healthy controls. Methods: Twenty-two consecutive adolescents (mean age = 16.7 years) undergoing posterior spinal fusion for Scheuermann's kyphosis were included and matched by age and sex with two healthy controls. The health-related quality of life was evaluated using the Scoliosis Research Society-24 questionnaire. Radiographic parameters were measured for comparison preoperatively and at 6 months and 2-year follow-ups. The health-related quality of life parameters were compared with healthy controls at 2 years of follow-up. Results: The mean maximal thoracic kyphosis improved from 79 degrees (range = 75 degrees-90 degrees) to 55 degrees (range = 45 degrees-75 degrees) (p < 0.001), and the mean lumbar lordosis was reduced from 71 degrees (range = 51 degrees-107 degrees) to 52 degrees (range = 34 degrees-68 degrees) (p < 0.001) after 2 years postoperatively. Incidence of proximal junctional kyphosis (PJK) was 18%. The scores of the Scoliosis Research Society-24 improved, with statistical significance observed in pain and self-image domains from preoperative to 2-year follow-up (p = 0.002 in both domains). The self-image and function were significantly lower in the operated patients at their 2-year follow-up visit compared to controls (p = 0.023 for self-image and p < 0.001 for function). Conclusion: Instrumented posterior spinal fusion improves the health-related quality of life of Scheuermann's kyphosis patients during the 2-year follow-up. The greatest improvement is observed in pain and self-image domains. The health-related quality of life in pain and activity domains reaches the level of healthy individuals, while function and self-image remain at a statistically lower level.Peer reviewe

Smoking, smoking cessation and fracture risk in elderly women followed for 10 years

Summary This study examines the impact of smoking and smoking cessation on fracture risk in 75-year-old women followed for 10 years. Smoking increased fracture risk, especially for vertebral fractures. Smoking cessation decreased the risk for vertebral fractures but not for other fracture types. Introduction The purpose of this study was to examine effects of smoking and smoking cessation on fracture risk. Methods This prospective observational population-based study followed 1033 women during 10 years from age 75. Data regarding smoking were collected at age 75. Hazard ratios (HRs) and 95 % confidence intervals for fracture were calculated using competing risks proportional hazards regression. Results Both former smokers and current smokers had an increased risk for any fracture (HR 1.30; 1.03–1.66, and HR 1.32; 1.01–1.73, respectively) and any osteoporotic fracture (hip, proximal humerus, distal radius, vertebra) (HR 1.31; 1.01–1.70 and HR 1.49; 1.11–1.98, respectively) compared to non-smokers. Former smokers had an increased risk for proximal humerus fractures (HR 2.23; 1.35–3.70), and current smokers had an increased risk for vertebral fractures (HR 2.30; 1.57–3.38) compared to non-smokers. After adjustment for weight, previous fractures, alcohol habits, bone mineral density (BMD), use of corticoids, vitamin D, bisphosphonates, and previous falls, former smokers had an increased risk for proximal humerus fracture (HR 2.07; 1.19–3.57) and current smokers had an increased risk for osteoporotic (HR 1.47; 1.05–2.05) and vertebral fractures (HR 2.50; 1.58–3.95) compared to non-smokers. Former smokers had a decreased risk for vertebral fractures, but not for other types of fractures, compared to current smokers. Conclusions Smoking increased the risk for fracture among elderly women, especially vertebral fractures. Smoking cessation decreased the risk for vertebral fractures but not for other types of fractures.NoneAccepte

An observational study on the outcome after surgery for lumbar disc herniation in adolescents compared to adults based on the Swedish Spine Register

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.Financial support has been received from the Swedish Society of Spine Surgeons.Accepte

Investigation of rare and low-frequency variants using high-throughput sequencing with pooled DNA samples

High-throughput sequencing using pooled DNA samples can facilitate genome-wide studies on rare and low-frequency variants in a large population. Some major questions concerning the pooling sequencing strategy are whether rare and low-frequency variants can be detected reliably, and whether estimated minor allele frequencies (MAFs) can represent the actual values obtained from individually genotyped samples. In this study, we evaluated MAF estimates using three variant detection tools with two sets of pooled whole exome sequencing (WES) and one set of pooled whole genome sequencing (WGS) data. Both GATK and Freebayes displayed high sensitivity, specificity and accuracy when detecting rare or low-frequency variants. For the WGS study, 56% of the low-frequency variants in Illumina array have identical MAFs and 26% have one allele difference between sequencing and individual genotyping data. The MAF estimates from WGS correlated well (r = 0.94) with those from Illumina arrays. The MAFs from the pooled WES data also showed high concordance (r = 0.88) with those from the individual genotyping data. In conclusion, the MAFs estimated from pooled DNA sequencing data reflect the MAFs in individually genotyped samples well. The pooling strategy can thus be a rapid and cost-effective approach for the initial screening in large-scale association studies.Peer reviewe

Health-related quality of life after posterior vertebral column resection in children: comparison with healthy controls

PurposeVertebral column resection (VCR) is a technique performed for short, angular spinal deformities. Several studies have reported good radiographic results with VCR regarding curve correction. However, only a few studies have reported the impact of this technique on the health-related quality-of-life measures (HRQoL).MethodsA single surgeon series of 27 consecutive children (mean age at surgery 12.3 years, range 1.1–20.7 years) undergoing posterior VCR with a minimum of 2-year follow-up. The comparison was made to age- and gender-matched healthy controls. Outcome measures included Scoliosis Research Society (SRS) questionnaire both pre- and postoperatively, radiographic outcomes, and complications.ResultsThe average major curve correction was 60.3% in the VCR patients. Complications were noted in 12 out of 27 (44%) of the VCR patients but all patients recovered fully during follow-up. The SRS pain domain scores improved significantly after VCR (p = 0.0002). The SRS total and domain scores were significantly lower than in the healthy controls especially in the self-image and function domains, but the pain and activity domains improved from preoperative to similar level than in the control group.ConclusionsHRQoL showed significant improvement in pain scores despite 44% risk of transient complications after VCR in pediatric patients. This health-related quality-of-life improvement remained at a significantly lower level than in the healthy control group.</p

Health-related quality of life outcomes in adolescent Scheuermann's kyphosis patients treated with posterior spinal fusion: A comparison with age- and sex-matched controls

Purpose: To assess the health-related quality of life and radiographic outcomes of surgically treated adolescent Scheuermann's kyphosis patients after minimum of 2-year follow-up and to compare the health-related quality of life with age- and sex-matched healthy controls.Methods: Twenty-two consecutive adolescents (mean age = 16.7 years) undergoing posterior spinal fusion for Scheuermann's kyphosis were included and matched by age and sex with two healthy controls. The health-related quality of life was evaluated using the Scoliosis Research Society-24 questionnaire. Radiographic parameters were measured for comparison preoperatively and at 6 months and 2-year follow-ups. The health-related quality of life parameters were compared with healthy controls at 2 years of follow-up.Results: The mean maximal thoracic kyphosis improved from 79° (range = 75°-90°) to 55° (range = 45°-75°) (p p p = 0.002 in both domains). The self-image and function were significantly lower in the operated patients at their 2-year follow-up visit compared to controls (p = 0.023 for self-image and p Conclusion: Instrumented posterior spinal fusion improves the health-related quality of life of Scheuermann's kyphosis patients during the 2-year follow-up. The greatest improvement is observed in pain and self-image domains. The health-related quality of life in pain and activity domains reaches the level of healthy individuals, while function and self-image remain at a statistically lower level.</p

Bone Turnover Marker Profiling and Fracture Risk in Older Women: Fracture Risk from Age 75 to 90.

Purpose: A major challenge in osteoporosis is to identify individuals at high fracture risk. We investigated six bone turnover markers (BTMs) to determine association with specific fracture types; the time-frame for risk prediction and whether these are influenced by age at assessment.Methods: Population-based OPRA cohort (n = 1044) was assessed at ages 75, 80, 85 and fractures documented for up to 15 years. Six BTMs were analyzed at each time-point (N-terminal propeptide of type I collagen, PINP; total osteocalcin, OC; bone-specific alkaline phosphatase, BALP; C-terminal telopeptide of type I collagen, CTX; tartrate-resistant acid phosphatase 5b, TRAcP5b; urinary osteocalcin). Hazard ratios (HR) for any, major osteoporotic, vertebral and hip fractures were calculated as short (1, 2, 3 years) and long-term risk (5, 10, 15 years).Results: At 75 year, high CTX levels were associated with an increased risk of all fractures, including major osteoporotic fractures, across most time-frames (HRs ranging: 1.28 to 2.28). PINP was not consistently associated. Urinary osteocalcin was consistently associated with elevated short-term risk (HRs ranging: 1.83-2.72). Other BTMs were directionally in accordance, though not all statistically significant. BTMs were not predictive for hip fractures. Association of all BTMs attenuated over time; at 80 year none were associated with an increased fracture risk.Conclusion: CTX, urinary OC and TRAcP5b are predictive for fracture in a 1 to 3 year, perspective, whereas in the long-term or above age 80 years, BTMs appear less valuable. Resorption markers, particularly CTX, were more consistently associated with fracture risk than formation markers in the very elderly.</p

CELSR2 is a candidate susceptibility gene in idiopathic scoliosis

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.Peer reviewe