Association of polymorphism at the type I collagen (COL1A1) locus with reduced bone mineral density, increased fracture risk, and increased collagen turnover.
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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)
Intraoperative ultrasonography evaluation of posterior vertebral wall displacement in thoracolumbar fractures.
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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)
Multiple disc herniations in spondyloepiphyseal dysplasia tarda. A case report.
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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)
Prenatal sonographic features of spondylocostal dysostosis and diaphragmatic hernia in the first trimester.
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Spondylocostal dysostosis is a congenital disorder characterized by multiple malformations of the vertebrae and ribs. We describe the sonographic features of an affected fetus at 12 and 14 weeks of gestation. The fetus had thoracic scoliosis, multiple vertebral and rib malformations and a grossly dilated stomach that had herniated into the chest through a left-sided diaphragmatic hernia. The stomach spanned the whole length of the fetal trunk. (+info)
Eosinophilic granulated cells comprising a tumor in a Fischer rat.
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A systemic tumor developed in multiple organs, including spleen, bone marrow, lymph nodes, liver, ovaries, and thoracic and lumbar vertebrae, of a female F344Du/Crj rat. The tumor was composed of round to indented mononuclear cells containing abundant large eosinophilic granules in the cytoplasm. The peripheral blood smear revealed that the large granules in the cytoplasm of the tumor cells were stained basophilic with Giemsa, suggesting a basophil or mast cell origin. However, these granules did not show metachromasia with toluidine blue and were stained blue to dark blue with phosphotungstic acid hematoxylin. Cellular morphology and characteristics in the specific stains of tumor cells suggested the development of a tumor of globule leukocytes in a F344Du/Crj rat. (+info)
Fungal spinal osteomyelitis in the immunocompromised patient: MR findings in three cases.
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The MR imaging findings of fungal spinal osteomyelitis in three recipients of organ transplants showed hypointensity of the vertebral bodies on T1-weighted sequences in all cases. Signal changes and enhancement extended into the posterior elements in two cases. Multiple-level disease was present in two cases (with a total of five intervertebral disks involved in three cases). All cases lacked hyperintensity within the disks on T2-weighted images. In addition, the intranuclear cleft was preserved in four of five affected disks at initial MR imaging. MR features in Candida and Aspergillus spondylitis that are distinct from pyogenic osteomyelitis include absence of disk hyperintensity and preservation of the intranuclear cleft on T2-weighted images. Prompt recognition of these findings may avoid delay in establishing a diagnosis and instituting treatment of opportunistic osteomyelitis in the immunocompromised patient. (+info)
Segmental spinal dysgenesis: neuroradiologic findings with clinical and embryologic correlation.
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BACKGROUND AND PURPOSE: Segmental spinal dysgenesis (SSD) is a rare congenital abnormality in which a segment of the spine and spinal cord fails to develop properly. Our goal was to investigate the neuroradiologic features of this condition in order to correlate our findings with the degree of residual spinal cord function, and to provide insight into the embryologic origin of this disorder. We also aimed to clarify the relationship between SSD and other entities, such as multiple vertebral segmentation defects, congenital vertebral displacement, and caudal regression syndrome (CRS). METHODS: The records of patients treated at our institutions for congenital spinal anomalies were reviewed, and 10 cases were found to satisfy the inclusion criteria for SSD. Plain radiographs were available for review in all cases. MR imaging was performed in eight patients, one of whom also underwent conventional myelography. Two other patients underwent only conventional myelography. RESULTS: Segmental vertebral anomalies involved the thoracolumbar, lumbar, or lumbosacral spine. The spinal cord at the level of the abnormality was thinned or even indiscernible, and a bulky, low-lying cord segment was present caudad to the focal abnormality in most cases. Closed spinal dysraphisms were associated in five cases, and partial sacrococcygeal agenesis in three. Renal anomalies were detected in four cases, and dextrocardia in one; all patients had a neurogenic bladder. CONCLUSION: SSD is an autonomous entity with characteristic clinical and neuroradiologic features; however, SSD and CRS probably represent two faces of a single spectrum of segmental malformations of the spine and spinal cord. The neuroradiologic picture depends on the severity of the malformation and on its segmental level along the longitudinal embryonic axis. The severity of the morphologic derangement correlates with residual spinal cord function and with severity of the clinical deficit. (+info)
Unusual presentation of spinal cord compression related to misplaced pedicle screws in thoracic scoliosis.
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Utilization of thoracic pedicle screws is controversial, especially in the treatment of scoliosis. We present a case of a 15-year-old girl seen 6 months after her initial surgery for scoliosis done elsewhere. She complained of persistent epigastric pain, tremor of the right foot at rest, and abnormal feelings in her legs. Clinical examination revealed mild weakness in the right lower extremity, a loss of thermoalgic discrimination, and a forward imbalance. A CT scan revealed at T8 and T10 that the right pedicle screws were misplaced by 4 mm in the spinal canal. At the time of the revision surgery the somatosensory evoked potentials (SSEP) returned to normal after screw removal. The clinical symptoms resolved 1 month after the revision. The authors conclude that after pedicle instrumentation at the thoracic level a spinal cord compression should be looked for in case of subtle neurologic findings such as persistent abdominal pain, mild lower extremity weakness, tremor at rest, thermoalgic discrimination loss, or unexplained imbalance. (+info)