Association of polymorphism at the type I collagen (COL1A1) locus with reduced bone mineral density, increased fracture risk, and increased collagen turnover.
OBJECTIVE: To examine the relationship between a common polymorphism within intron 1 of the COL1A1 gene and osteoporosis in a nested case-control study. METHODS: We studied 185 healthy women (mean +/- SD age 54.3+/-4.6 years). Bone mineral density (BMD) was measured using dual x-ray absorptiometry, and fractures were determined radiographically. The COL1A1 genotype was assessed using the polymerase chain reaction and Bal I endonuclease digestion. RESULTS: Genotype frequencies were similar to those previously observed and in Hardy-Weinberg equilibrium: SS 61.1%, Ss 36.2%, and ss 2.7%. Carriage of at least one copy of the "s" allele was associated with a significant reduction in lumbar spine BMD (P = 0.02) and an increased risk of total fracture (P = 0.04). Urinary pyridinoline levels were significantly elevated in those with the risk allele (P < 0.05). CONCLUSION: These data support the findings that the COL1A1 gene polymorphism is associated with low BMD and fracture risk, and suggest a possible physiologic effect on total body turnover of type I collagen. (+info)
Genetic influences on cervical and lumbar disc degeneration: a magnetic resonance imaging study in twins.
OBJECTIVE: Degenerative intervertebral disc disease is common; however, the importance of genetic factors is unknown. This study sought to determine the extent of genetic influences on disc degeneration by classic twin study methods using magnetic resonance imaging (MRI). METHODS: We compared MRI features of degenerative disc disease in the cervical and lumbar spine of 172 monozygotic and 154 dizygotic twins (mean age 51.7 and 54.4, respectively) who were unselected for back pain or disc disease. An overall score for disc degeneration was calculated as the sum of the grades for disc height, bulge, osteophytosis, and signal intensity at each level. A "severe disease" score (excluding minor grades) and an "extent of disease" score (number of levels affected) were also calculated. RESULTS: For the overall score, heritability was 74% (95% confidence interval [95% CI] 64-81%) at the lumbar spine and 73% (95% CI 64-80%) at the cervical spine. For "severe disease," heritability was 64% and 79% at the lumbar and cervical spine, respectively, and for "extent of disease," heritability was 63% and 63%, respectively. These results were adjusted for age, weight, height, smoking, occupational manual work, and exercise. Examination of individual features revealed that disc height and bulge were highly heritable at both sites, and osteophytes were heritable in the lumbar spine. CONCLUSION: These results suggest an important genetic influence on variation in intervertebral disc degeneration. However, variation in disc signal is largely influenced by environmental factors shared by twins. The use of MRI scans to determine the phenotype in family and population studies should allow a better understanding of disease mechanisms and the identification of the genes involved. (+info)
Cyclical etidronate increases bone density in the spine and hip of postmenopausal women receiving long term corticosteroid treatment. A double blind, randomised placebo controlled study.
OBJECTIVE: To study the effect of cyclic etidronate in secondary prevention of corticosteroid induced osteoporosis. METHODS: A double blind, randomised placebo controlled study comparing cyclic etidronate and placebo during two years in 37 postmenopausal women receiving long term corticosteroid treatment, mainly for polymyalgia rheumatica (40% of the patients) and rheumatoid arthritis (30%). Bone density was measured in the lumbar spine, femoral neck, and femoral trochanter. RESULTS: After two years of treatment there was a significant difference between the groups in mean per cent change from baseline in bone density in the spine in favour of etidronate (p = 0.003). The estimated treatment difference (mean (SD)) was 9.3 (2.1)%. Etidronate increased bone density in the spine (4.9 (2.1)%, p < 0.05) whereas the placebo group lost bone (-2.4 (1.6)%). At the femoral neck there was an estimated difference of 5.3 (2.6)% between the groups (etidronate: 3.6% (1.4)%, p < 0.05, placebo: -2.4 (2.1)%). The estimated difference at the trochanter was 8.2 (3.0) (etidronate: 9.0 (1.5)%, p < 0.0001, placebo: 0.5 (2.3)%). No significant bone loss occurred in the hip in placebo treated patients. CONCLUSIONS: Cyclic etidronate is an effective treatment for postmenopausal women receiving corticosteroid treatment and is well tolerated. (+info)
Intraoperative ultrasonography evaluation of posterior vertebral wall displacement in thoracolumbar fractures.
Intraoperative ultrasonography (IOUS) was used to evaluate the location and compressive effects of intraspinal fragments in thoracolumbar fractures and the efficacy of reduction maneuvers in patients operated on for isolated or attached intraspinal fragments or for global posterior wall disruption. Dynamic IOUS was used to evaluate the effects of traction and lordosis. Fifty-eight patients were evaluated using a 7.5 MHz ultrasound probe, including 27 treated by impaction, 19 by removal of apparently isolated fragments, and 12 by traction followed by lordosis for global posterior wall disruption. IOUS had limitations and problems caused by split fragments and residual pedicular attachments that can compromise intraoperative maneuvers. The risk of secondary displacement of isolated fragments treated by impaction was very high. In particular, the pinching effect produced by T-shaped fractures was commonly responsible for secondary displacement. IOUS evaluation of canal clearance after fragment removal was satisfactory, but did not provide quantitative data. IOUS was easier to perform and apparently more reliable than intraoperative myelography. The dynamic IOUS data suggest that, except for severely tilted fragments that are completely free or remain attached to a pedicle, residual discal attachments significantly influence the likelihood of successful reduction. (+info)
Pathological fracture of a lumbar vertebra caused by rheumatoid arthritis--a case report.
We describe a case of rheumatoid arthritis (RA) with collapse of the L3 lumbar vertebra for which surgery was performed. The pathogenesis of lumbar lesions affected by RA is discussed and the literature reviewed. (+info)
Multiple disc herniations in spondyloepiphyseal dysplasia tarda. A case report.
Spondyloepiphyseal dysplasia (SED) tarda is a group of inherited dysplasias in which the spine and the epiphyses of long bones are affected from late childhood. A 19-year-old male was diagnosed as SED tarda. He had a thoracic and then lumbar disc herniations which were separated by a 4-year interval. Surgical excision was performed for each disc herniation. This is the first case report of multiple disc herniations in SED. (+info)
A method is described whereby fractures of the neural arch similar to those in spondylolysis are produced experimentally. The forces, bending moments and displacements required to initiate the fractures are given; The mechanical aspects in the aetiology of spondylolysis are explained by a simplified two-dimensional force analysis. (+info)
Extradural inflammation associated with annular tears: demonstration with gadolinium-enhanced lumbar spine MRI.
Annular tears are manifest on MRI as the high-intensity zone (HIZ) or as annular enhancement. Patients with annular tears may experience low back pain with radiation into the lower limb in the absence of nerve root compression. Inflammation of nerve roots from leak of degenerative nuclear material through full-thickness annular tears is a proposed mechanism for such leg pain. The aim of this study is to illustrate the appearance of extradural enhancement adjacent to annular tears in patients being investigated for low back pain with radiation into the lower limb(s). Sagittal T1- and T2-weighted spin echo and axial T1-weighted spin echo sequences were obtained in eight patients being investigated for low back and leg pain. In all patients, the T1-weighted sequences were repeated following intravenous gadopentetate dimeglumine (Gd-DTPA). Annular tears were identified at 12 sites in eight patients. Extradural inflammation appeared as a region of intermediate signal intensity replacing the fat between the posterior disc margin and the theca, which enhanced following Gd-DTPA. The inflammatory change was always associated with an annular tear, and in four cases directly involved the nerve root. Enhancement of the nerve root was seen in two cases. The findings may be relevant in the diagnosis of chemical radiculopathy secondary to inflammation at the site of an annular leak from a degenerating disc. (+info)