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Orthopaedic Proceedings
Vol. 94-B, Issue SUPP_XXVII | Pages 42 - 42
1 Jun 2012
Fendri K Patten S Zaouter C Parent S Labelle H Edery P Moldovan F
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Introduction

Adolescent idiopathic scoliosis (AIS) is the most common form of spinal deformity. It occurs mainly in girls and progresses during pre-pubertal and pubertal growth, which is a crucial period for bone mass acquisition. The cause and molecular mechanisms of AIS are not clear; at present the consensus is that AIS has a multifactor cause, with many genetic factors. During the past 5 years, considerable effort has been devoted to identify a gene or genes that cause a predisposition to AIS. Many loci for this disorder have been mapped to different chromosome regions, but no genes have been clearly identified as being responsible for AIS, and, most importantly, the resulting protein defects remain to be shown. We aimed to identify the gene(s) that could be involved in AIS and to validate their involvement by both genetic and functional analyses.

Methods

A large multiplex AIS French family was chosen for this study on the basis of clinical and radiological data. Whole genome genotyping of the 20 members of this family led to the mapping of a dominant disease-causing gene to two critical genomic intervals (Edery and colleagues, Eur J Hum Genet, accepted [2011]), but the causative mutation remains to be identified. In parallel, gene expression profiling was investigated by microarray analysis in RNA samples isolated from osteoblasts derived from healthy individuals and those with AIS. RNA samples were extracted from osteoblasts, purified, fluorescently labelled, and then hybridised to gene expression microarrays with the Illumina expression BeadChips technology containing more than 46 000 probes for the human genome (HumanHT-12). Data analysis in R version 2.10.1 (Bioconductor packages oligo and limma) was done, and genes that had at least 1·5-fold change in expression were considered differentially regulated relative to controls. AIS candidate genes within the critical intervals were selected on the basis of their mRNA expression in AIS individuals and by their known functions. The coding regions of these candidate genes were then sequenced to identify potential mutations. The biological activity of mutant proteins is under evaluation by in-vivo functional studies in zebrafish.


Orthopaedic Proceedings
Vol. 94-B, Issue SUPP_XXIII | Pages 197 - 197
1 May 2012
Donovan N Campton L Bucknill A Patten S
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Open reduction and internal fixation of acetabular fractures demands detailed preoperative planning, and given their frequent complexity, a thorough understanding of their three-dimensional (3D) form is necessary. This study aims to assess if the use of dynamic 3D models will improve preoperative planning of acetabular fractures.

In this study, three experienced pelvic trauma surgeons were provided with computer based dynamic 3D models in addition to preoperative radiographs, CT scans and static 3D reconstructions of 17 acetabular fractures operatively managed at the Royal Melbourne Hospital.

Surgeons, blinded to any previous operative plan or patient detail, then classified fracture type and made preoperative surgical plans. Comparison was then made to classification and operative approach documented in the patient's operation notes. Comparison was then made with regard to surgical plan and planning time with or without access to dynamic 3D models.

In complex cases the additional information provided by dynamic 3D modelling was found to reduce planning time and, in some cases, change the surgical plan. For complex acetabular fractures we recommend that surgeons should have access to computer-based dynamic 3D models of the injuries for pre-operative planning.


Orthopaedic Proceedings
Vol. 92-B, Issue SUPP_IV | Pages 545 - 545
1 Oct 2010
Campton L Bucknill A Clifford J Patten S
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Detailed preoperative planning is essential for open reduction and internal fixation of acetabular fractures if a successful outcome is to be achieved. Decisions such as patient positioning, approach, reduction techniques and implant positioning are greatly influenced by fracture pattern and displacement. These fractures are frequently complex and a thorough understanding of their 3-Dimensional (3D) form is necessary for pre-operative decision making.

A combination of biplanar x-rays, 2 Dimensional CT scans (Axial, Sagittal and Coronal multi-plane reformats) and, more recently, 3D CT reconstructions are provided routinely.

However, the 3D reconstructions are provided to surgeons as static 2D pictures of the 3D model (up to 6 different views), rather than a true 3D representation.

In this study we used dynamic 3D models to provide additional information to surgeons. The 3D models were generated on a standard desktop or laptop computer and can be used in the operating theatre (Osirix Dicom viewing software). These true 3D reconstructions allow the surgeon to manipulate the model himself in real time so that the fracture can be viewed at any angle and overlying fragments removed to expose deeper structures.

3 experienced consultant pelvic trauma surgeons reviewed plain radiographs and 2D Pelvic CT scans from 20 acetabular fractures. They were asked to make a preoperative plan with regard to fracture classification and planned surgical approach(s). At separate, time-spaced, sittings they were provided with a 3D Static and 3D Dynamic CT reconstruction in addition. They were blinded to any previous plan and the patients’ details.

A comparison was then made with regard to surgical plan and the time taken to make that plan with or without access to dynamic 3D models. The additional information provided by dynamic 3D modelling was found to reduce planning time and, in some cases, change the surgical plan.