13 research outputs found

    Klippel Feil Syndrome

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    The Cervical Spine

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    Two subtypes of intervertebral disc degeneration distinguished by large-scale population-based study

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    Background Context: Lumbar disc degeneration (LDD) is a major cause of low back pain, and is a common and disabling condition worldwide. It has been defined and measured by multiple spine magnetic resonance imaging (MRI) features, but the heterogeneity among them has never been fully addressed. Purpose: This study examined the intercorrelations, risk factor associations, and single nucleotide polymorphism (SNP) heritabilities of lumbar disc MRI features in a large-scale sample to classify the different intervertebral disc phenotypes associated with LDD. Study Design: A cross-sectional study was conducted consisting of 2,943 volunteers of Southern Chinese origin (mean age: 41.1 years; range: 15–55 years; 59.6% women). Outcome Measures: The outcome measures were MRI phenotypic spinal patterns and their risk factor profiles in relation to developmental or degenerative origins of disc degeneration. Methods: Sagittal T2-weighted MRI of the lumbar spine from L1 to S1 was assessed. The MRI features of lumbar intervertebral disc changes, such as disc signal intensity loss and disc bulges or extrusions, as well as additional imaging phenotypes of end plate changes, high-intensity zones, and bone marrow changes, were evaluated. Blood samples were taken for genotyping using the HumanOmni-ZhongHua-8 BeadChip. Subject demographics, environmental, and lifestyle factors were assessed by questionnaires. Multivariate statistical techniques were used for phenotype evaluation. Polychoric correlations and local regression statistical analyses were performed. The genetic components contributed by common SNPs were estimated by comparing genetic correlations and phenotypic correlations using the Genome-Wide Complex Trait Analysis (GCTA) tool. Results: The study noted that lumbar disc MRI features separated into two groups with differential patterns of risk factor associations. A subset of lumbar disc abnormalities, including end plate changes but also upper lumbar disc bulging and signal intensity loss, may have a developmental origin. Subsequent degenerative changes, typically affecting the lower lumbar discs, then emerge as individuals age and are associated with body mass index. Conclusions: This is the first large-scale study to identify two distinct patterns of lumbar disc alterations, noting degenerative changes and a possible developmental component affecting the lumbar spine. This new classification provides a starting point for a more homogeneous phenotype definition, which may provide greater statistical power and precision in future genetic and epidemiologic studies. In addition, such insights may have direct clinical implications in the prevention, therapeutics, and prognostics of patients with disc degeneration

    Coronal deformity correction in adolescent idiopathic scoliosis patients using the fulcrum-bending radiograph: a prospective comparative analysis of the proximal thoracic, main thoracic, and thoracolumbar/lumbar curves

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    The aim of the prospective, comparative radiographic analysis was to determine the role of the fulcrum-bending radiograph (FBR) for the assessment of the proximal thoracic (PT), main thoracic (MT), and the thoracolumbar/lumbar (TL/L) curves in patients undergoing posterior spinal pedicle screw fixation and fusion for adolescent idiopathic scoliosis (AIS). The FBR demonstrated statistically better correction than other preoperative methods for the assessment of frontal plane correction of the MT curves. The fulcrum-bending correction index (FBCI) has been considered a superior method than the correction rate for comparing curve correction undergoing posterior spinal fusion because it accounts for the curve flexibility. However, their applicability to assess the PT and TL/L curves in AIS patients remains speculative. The relation between FBR and correction obtained by pedicle screws fixation is still unknown. Thirty-eight consecutive AIS patients who underwent pedicle screw fixation and posterior fusion were included in this study. The assessment of preoperative radiographs included standing posterior–anterior (PA), FBR, supine side-bending, and postoperative standing PA and lateral plain radiographs. The flexibility of the curve, as well as the FBCI, was calculated for all patients. Postoperatively, radiographs were assessed at immediate (i.e. 1 week), 3-month, 6-month, 12-month, and 2-year follow-up. Cobb angles were obtained from the PT, MT, and TL/L curves. The study consisted of 9 PT, 37 MT, and 12 TL/L curves, with a mean age of 15.1 years. The mean FBR flexibility of the PT, MT, and the TL/L curves was 42.6, 61.1, and 66.2%, respectively. The mean operative correction rates in the PT, MT, and TL/L curves were 43.4, 69.3, and 73.9%, respectively, and the mean FBCI was 103.8, 117.0, and 114.8%, respectively. Fulcrum-bending flexibility was positively correlated with the operative correction rate in PT, MT, and TL/L curves. Although the correction rate in MT and TL/L curves was higher than PT curves, the FBCI in PT, MT, and TL/L curves was not significantly different (p < 0.05). The FBR can be used to assist in the assessment of PT, MT, and TL/L curve corrections in AIS patients. When curve flexibility is taken into account by FBR, the ability of pedicle screws to correct PT, MT, and TL/L curves is the same
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