ABSTRACT
The mode of Scheuermann's disease inheritance and its phenotypic traits in probands and their relatives were studied in 90 pedigrees (90 probands and 385 relatives). The disorder was identified as a genetically related pathology inherited by autosomal dominant type, controlled by a mutant major gene, as a kyphotic deformity without signs of vertebral bodies' anomaly and torsion. Morphological and biochemical studies showed disturbance in the structure of vertebral growth plate anterior aspects at the level of deformity, defects in proliferation and differentiation of chondrocytes, and change in proteoglycan spectrum in cells and matrix. Twelve candidate genes were studied in chondrocytes isolated from vertebral growth plates of patients with Scheuermann's disease. The study results included disorder in the IHH gene expression and preservation of the expression of PAX1, two aggrecan isoforms, link protein, types I and II collagen, lumican, versican, growth hormone and growth factor receptor genes, and proliferation gene. Preservation of the SOX9 gene (transcription gene) probably indicates posttranscriptional genetic disorders. The study is under way.
Subject(s)
Cell Differentiation/genetics , Chondrocytes/pathology , Growth Plate/growth & development , Scheuermann Disease/genetics , Adult , Aged , Cell Proliferation , Female , Genetic Association Studies , Growth Plate/metabolism , Hedgehog Proteins/genetics , Humans , Male , Middle Aged , Paired Box Transcription Factors/genetics , Scheuermann Disease/pathologyABSTRACT
AIM OF THE STUDY: CDI and other types of segmental instrumentation are wide used in surgical treatment of congenital spinal deformities. At the same time we didn't find in orthopaedic literature any data concerning 3-D evaluation of the results of such procedures. The aim of this study is the assessment of 3-D effect of CDI using of computer optical topography.
Subject(s)
Image Processing, Computer-Assisted , Imaging, Three-Dimensional , Moire Topography , Postoperative Complications/diagnosis , Scoliosis/congenital , Scoliosis/surgery , Spinal Fusion/instrumentation , Adolescent , Adult , Child , Computer Graphics , Female , Follow-Up Studies , Humans , Lumbar Vertebrae/pathology , Lumbar Vertebrae/surgery , Male , Thoracic Vertebrae/pathology , Thoracic Vertebrae/surgerySubject(s)
Image Processing, Computer-Assisted , Imaging, Three-Dimensional , Postoperative Complications/diagnosis , Scoliosis/surgery , Spinal Fusion/instrumentation , Tomography, Optical , Adolescent , Adult , Child , Computer Graphics , Female , Humans , Lumbar Vertebrae/surgery , Male , Thoracic Vertebrae/surgery , Treatment OutcomeABSTRACT
COMOT technique was developed at Novosibirsk Research Institute of Traumatology and Orthopaedics as a pilot study in 1997 was used for screening for spine deformities in schoolchildren in Novosibirsk, Omsk and Moscow. Topographic screening was performed with patient standing in his natural free and easy posture. The criteria for scoliosis detection was an angle of lateral asymmetry (LA), calculated on the basis of topographic data, which was an analogue of Cobb angle. An additional criterion for structural spine deformation was an angle of scoliotic arch apex rotation (R). The analysis of responsiveness and specificity of topographic test (TT) at detection of structural arches of 10 and more degrees (according to Cobb) showed that they depend on the level of taken thresholds.
