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OBJECTIVE: The degenerative disc disease has a multifactorial etiology and mechanical stress is one of the most important etiological factor. The purpose of this study was to evaluate the intervertebral disc (IVD) after axial stress diminution from the point of view of its proteoglycan (PG) content, with preoteoglicans (PGs) being very important in the normal function but also in the degenerative or regenerative processes. METHODS: This is a single-center, prospective, non-randomized study of 38 degenerated intervertebral discs treated with monosegmental or polisegmental posterior lumbar spinal fixation in 27 patients. During surgery, a posterior intervertebral distraction at operated levels was applied. Patients' mean age was 50.77 years and the mean follow-up 28.74 months. Both clinical (visual analog pain scale, Oswestry disability index) and radiological (lumbar spine lordosis, disc thickness) analyses were made before and after surgery. A new method of cartilage analysis, which was also validated for the IVD, delayed gadolinium-enhanced magnetic resonance imaging of cartilage (dGEMRIC) was used to determine the PG content before and after surgery for both the intervertebral degenerative disc and control level L1-L2 disc. RESULTS: The clinical features improved significantly. The thickness of the operated discs increased by an average of 1.71 mm postoperatively and remained unchanged in the control group. The lumbar lordosis did not change significantly. In dGEMRIC studies, the discs accumulated in average 410.08 units /cm2 of gadolinium before surgery and 272.45 units/cm2 after surgery, without significant changes in the control group. CONCLUSION: Our study shows an improvement of PG quantity in degenerated IVD due to a decrease in gadolinium binding seen in dGEMRIC study. Thus, we can ameliorate IVD homeostasis by eliminating mechanical stress, which could be a step towards the process of disc regeneration.

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BACKGROUND: Meniscoid lesions have been reported in patients with chronic ankle injuries, especially in soccer athletes, and such lesions cause soft-tissue impingement and pain. To our knowledge, we are the first to report a meniscoid lesion in the ankle joint presenting as a long-term sequela of avascular necrosis of the talus that developed in childhood. CASE PRESENTATION: In this paper, we describe a 55-year-old Caucasian male patient who presented with a 1-year history of intermittent locking, "giving way," weight-bearing pain, and swelling over the anterior aspect of the ankle joint. Imaging showed a rare case of avascular necrosis of the talus associated with an unstable plica-like lesion that was removed arthroscopically after unsuccessful conservative treatment. CONCLUSION: We demonstrate that unstable meniscoid lesions of the ankle joint can be treated successfully with arthroscopic debridement. We obtained satisfactory short-term clinical results at the 2-year follow-up, even though advanced osteoarthritis was present.

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Background and study aims: Here, we report the presence of radiolucent lines in a consecutive group of 93 partial knee replacements (UKA). Materials and methods: The prospective study was conducted from 2011 to 2019 with a minimum follow-up of two years. Clinical data and radiographs were recorded. Of the 93 UKA, 65 were cemented. The Oxford Knee Score was recorded before and two years after surgery. In 75 cases, the follow-up was conducted at > 2 years. A lateral knee replacement was performed in 12 cases. In one case, a medial UKA with patellofemoral prosthesis was performed. Results: In eight patients (8.6%), a radiolucent line (RLL) underneath the tibia component was observed. In four of these eight patients, RLLs were non-progressive, without clinical implications. In two cemented UKAs, RLLs were progressive and were revised with total knee arthroplasty. Early severe osteopenia of the tibia (zone 1 to 7) in the frontal view was observed in two cementless medial UKA cases. The demineralisation occurred spontaneously five months after surgery. We diagnosed two early deep infections, one of which was treated locally. Conclusions: RLLs were present in 8.6% of the patients. Even in severe cases of osteopenia, spontaneous recovery of RLLs is possible with cementless UKAs.

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PURPOSE: Currently, accepted treatment for periprosthetic femoral fractures with loose femoral stem indicates its revision; however, recent studies have proposed treating Vancouver type B2 fractures via internal fixation without stem revision, particularly in the elderly or multi-morbid patients. Despite indications for stem revision, some surgeons tend to perform internal fixation. The main goal of this study was therefore to identify the parameters that were significantly different comparing internal fixation to stem revision for Vancouver type B2 fractures. METHODS: Eighty-one Vancouver B2 periprosthetic femoral fractures, treated between 2010 and 2019, were analysed. The internal fixation (ORIF) and the revision groups were compared. Patients' age, BMI, American Society of Anaesthesiologists (ASA) score, anaesthesia type, operating time, blood loss, surgeons' experience, post-operative weight-bearing, length of hospital stay, and radiological outcome using AGORA roentgenographic assessment were analysed. RESULTS: Patients chosen for ORIF were significantly older than those treated by stem revision (85.4 vs 75.1 years; p = 0.002). Blood loss was 390.7 and 1141.6 ml in the ORIF and revision groups, respectively (p < 0.0001). The surgical times were 134.5 and 225 min in the ORIF and revision groups, respectively (p < 0.0001). Our analysis of BMI, ASA score, anaesthesia type, length of hospital stay, surgeons' experience and radiological outcome, were not significantly different between the two groups. CONCLUSION: Revision did not exhibit better radiological results; moreover, internal fixation resulted in significantly less perioperative blood loss and a shorter operating time, concluding that ORIF is a viable alternative to revision arthroplasty, particularly in older patients.

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PURPOSE: There is insufficient information regarding axial plane characteristics of scoliosis despite its 3D nature. The posterior-anterior vertebral vector (VV) has been proposed to characterize the axial plane appearances of the thoracic scoliosis. This study aimed to highlight the importance of knowledge of axial plane features when determining fusion levels and correction techniques of thoracic curves. METHODS: Altogether, 233 thoracic curves were analyzed using the VV after proving its usability instead of 3D angles to determine axial plane parameters such as apical vertebral (APV) axial rotations, APV lateral displacement, and intervertebral rotations (IVR). K-means clustering and regression analysis were used to identify axial plane curve patterns and determine the relationship between the coronal angles and axial plane characteristics, respectively. RESULTS: A close correlation was found between 3D angles and VV projected angles. Eight axial plane clusters were distinct, exhibiting different lateral APV displacement toward the interacetabular axis with relatively small axial rotations and a simultaneous decrease in sagittal curves. The regression analysis showed that the correlation of coronal curve magnitude was significantly stronger (r = 0.78) with APV lateral translation than with APV axial rotation (r = 0.65). CONCLUSION: Based on these findings, the primary goal of scoliosis correction should focus on minimizing lateral translation rather than eliminating axial rotation. Knowing the IVR in the axial plane helps accurately determine the limits of the structural curves. VV-based axial views can facilitate the accurate determination of the end vertebrae and selection of the appropriate correction technique of the curve. These slides can be retrieved under Electronic Supplementary Material.

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Idiopathic scoliosis is a three-dimensional (3D) deformity of the spine. In clinical practice, however, the diagnosis and treatment of scoliosis consider only two dimensions (2D) as they rely solely on postero-anterior (PA) and lateral radiographs. Thus, the projections of the deformity are evaluated in only the coronal and sagittal planes, whereas those in the axial plane are disregarded, precluding an accurate assessment of the 3D deformity. A universal dogma in engineering is that designing a 3D object requires drawing projections of the object in all three planes. Similarly, when dealing with a 3D deformity, knowledge of the abnormalities in all three planes is crucial, as each plane is as important as the other two planes. This article reviews the chronological development of axial plane imaging and spinal deformity measurement.

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PURPOSE: The global appearance of scoliosis in the horizontal plane is not really known. Therefore, the aims of this study were to analyze scoliosis in the horizontal plane using vertebral vectors in two patients classified with the same Lenke group, and to highlight the importance of the information obtained from these vertebral vector-based top-view images in clinical practice. METHODS: Two identical cases of scoliosis were selected, based on preoperative full-body standing anteroposterior and lateral radiographs obtained by the EOS™ 2D/3D system. Three-dimensional (3D) surface reconstructions of the spinal curves were performed by using sterEOS™ 3D software before and after surgery. In both patients, we also determined the vertebral vectors and horizontal plane coordinates for analyzing the curves mathematically before and after surgery. RESULTS: Despite the identical appearance of spinal curves in the frontal and sagittal planes, the horizontal views seemed to be significantly different. The vertebral vectors in the horizontal plane provided different types of parameters regarding scoliosis and the impact of surgical treatment: reducing lateral deviations, achieving harmony of the curves in the sagittal plane, and reducing rotations in the horizontal plane. CONCLUSIONS: Vertebral vectors allow the evolution of scoliosis curve projections in the horizontal plane before and after surgical treatment, along with representation of the entire spine. The top view in the horizontal plane is essential to completely evaluate the scoliosis curves, because, despite the similar representations in the frontal and sagittal planes, the occurrence of scoliosis in the horizontal plane can be completely different. These slides can be retrieved under Electronic Supplementary Material.

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PURPOSE: A posterior-anterior vertebral vector is proposed to facilitate visualization and understanding of scoliosis. The aim of this study was to highlight the interest of using vertebral vectors, especially in the horizontal plane, in clinical practice. METHODS: We used an EOS two-/three-dimensional (2D/3D) system and its sterEOS 3D software for 3D reconstruction of 139 normal and 814 scoliotic spines-of which 95 cases were analyzed pre-operatively and post-operatively, as well. Vertebral vectors were generated for each case. Vertebral vectors have starting points in the middle of the interpedicular segment, while they are parallel to the upper plate, ending in the middle of the segment joining the anterior end plates points, thus defining the posterior-anterior axis of vertebrae. To illustrate what information could be obtained from vertebral vector-based top-view images, representative cases of a normal spine and a thoracic scoliosis are presented. RESULTS: For a normal spine, vector projections in the transverse plane are aligned with the posterior-anterior anatomical axis. For a scoliotic spine, vector projections in the horizontal plane provide information on the lateral decompensation of the spine and the lateral displacement of vertebrae. In the horizontal plane view, vertebral rotation and projections of the sagittal curves can also be analyzed simultaneously. CONCLUSIONS: The use of posterior-anterior vertebral vector facilitates the understanding of the 3D nature of scoliosis. The approach used is simple. These results are sufficient for a first visual analysis furnishing significant clinical information in all three anatomical planes. This visualization represents a reasonable compromise between mathematical purity and practical use.

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STUDY DESIGN: Reproducibility study of SterEOS 3-dimensional (3D) software in large, idiopathic scoliosis (IS) spinal curves. OBJECTIVE: To determine the accuracy and reproducibility of various 3D, software-generated radiographic measurements acquired from a 2-dimensional (2D) imaging system. SUMMARY OF BACKGROUND DATA: SterEOS software allows a user to reconstruct a 3D spinal model from an upright, biplanar, low-dose, X-ray system. The validity and internal consistency of this system have not been tested in large IS curves. METHODS: EOS images from 30 IS patients with curves greater than 50° were collected for analysis. Three observers blinded to the study protocol conducted repeated, randomized, manual 2D measurements, and 3D software generated measurements from biplanar images acquired from an EOS Imaging system. Three-dimensional measurements were repeated using both the Full 3D and Fast 3D guided processes. A total of 180 (120 3D and 60 2D) sets of measurements were obtained of coronal (Cobb angle) and sagittal (T1-T12 and T4-T12 kyphosis; L1-S1 and L1-L5; and pelvic tilt, pelvic incidence, and sacral slope) parameters. Intra-class correlation coefficients were compared, as were the calculated differences in values generated by SterEOS 3D software and manual 2D measurements. The 95% confidence intervals of the mean differences in measures were calculated as an estimate of reproducibility. RESULTS: Average intra-class correlation coefficients were excellent: 0.97, 0.97, and 0.93 for Full 3D, Fast 3D, and 2D measures, respectively (p = .11). Measurement errors for some sagittal measures were significantly lower with the 3D techniques. Both the Full 3D and Fast 3D techniques provided consistent measurements of axial plane vertebral rotation. CONCLUSIONS: SterEOS 3D reconstruction spine software creates reproducible measurements in all 3 planes of deformity in curves greater than 50°. Advancements in 3D scoliosis imaging are expected to improve our understanding and treatment of idiopathic scoliosis.

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PURPOSE: A new concept of vertebra vectors based on spinal three-dimensional (3D) reconstructions of images from the EOS system, a new low-dose X-ray imaging device, was recently proposed to facilitate interpretation of EOS 3D data, especially with regard to horizontal plane images. This retrospective study was aimed at the evaluation of the spinal layout visualized by EOS 3D and vertebra vectors before and after surgical correction, the comparison of scoliotic spine measurement values based on 3D vertebra vectors with measurements using conventional two-dimensional (2D) methods, and an evaluation of horizontal plane vector parameters for their relationship with the magnitude of scoliotic deformity. METHODS: 95 patients with adolescent idiopathic scoliosis operated according to the Cotrel-Dubousset principle were subjected to EOS X-ray examinations pre- and postoperatively, followed by 3D reconstructions and generation of vertebra vectors in a calibrated coordinate system to calculate vector coordinates and parameters, as published earlier. Differences in values of conventional 2D Cobb methods and methods based on vertebra vectors were evaluated by means comparison T test and relationship of corresponding parameters was analysed by bivariate correlation. Relationship of horizontal plane vector parameters with the magnitude of scoliotic deformities and results of surgical correction were analysed by Pearson correlation and linear regression. RESULTS: In comparison to manual 2D methods, a very close relationship was detectable in vertebra vector-based curvature data for coronal curves (preop r 0.950, postop r 0.935) and thoracic kyphosis (preop r 0.893, postop r 0.896), while the found small difference in L1-L5 lordosis values (preop r 0.763, postop r 0.809) was shown to be strongly related to the magnitude of corresponding L5 wedge. The correlation analysis results revealed strong correlation between the magnitude of scoliosis and the lateral translation of apical vertebra in horizontal plane. The horizontal plane coordinates of the terminal and initial points of apical vertebra vectors represent this (r 0.701; r 0.667). Less strong correlation was detected in the axial rotation of apical vertebras and the magnitudes of the frontal curves (r 0.459). CONCLUSIONS: Vertebra vectors provide a key opportunity to visualize spinal deformities in all three planes simultaneously. Measurement methods based on vertebral vectors proved to be just as accurate and reliable as conventional measurement methods for coronal and sagittal plane parameters. In addition, the horizontal plane display of the curves can be studied using the same vertebra vectors. Based on the vertebra vectors data, during the surgical treatment of spinal deformities, the diminution of the lateral translation of the vertebras seems to be more important in the results of the surgical correction than the correction of the axial rotation.

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BACKGROUND CONTEXT: Three-dimensional (3D) deformations of the spine are predominantly characterized by two-dimensional (2D) angulation measurements in coronal and sagittal planes, using anteroposterior and lateral X-ray images. For coronal curves, a method originally described by Cobb and for sagittal curves a modified Cobb method are most widely used in practice, and these methods have been shown to exhibit good-to-excellent reliability and reproducibility, carried out either manually or by computer-based tools. Recently, an ultralow radiation dose-integrated radioimaging solution was introduced with special software for realistic 3D visualization and parametric characterization of the spinal column. PURPOSE: Comparison of accuracy, correlation of measurement values, intraobserver and interrater reliability of methods by conventional manual 2D and sterEOS 3D measurements in a routine clinical setting. STUDY DESIGN/SETTING: Retrospective nonrandomized study of diagnostic X-ray images created as part of a routine clinical protocol of eligible patients examined at our clinic during a 30-month period between July 2007 and December 2009. PATIENT SAMPLE: In total, 201 individuals (170 females, 31 males; mean age, 19.88 years) including 10 healthy athletes with normal spine and patients with adolescent idiopathic scoliosis (175 cases), adult degenerative scoliosis (11 cases), and Scheuermann hyperkyphosis (5 cases). Overall range of coronal curves was between 2.4° and 117.5°. Analysis of accuracy and reliability of measurements were carried out on a group of all patients and in subgroups based on coronal plane deviation: 0° to 10° (Group 1, n=36), 10° to 25° (Group 2, n=25), 25° to 50° (Group 3, n=69), 50° to 75° (Group 4, n=49), and more than 75° (Group 5, n=22). METHODS: Coronal and sagittal curvature measurements were determined by three experienced examiners, using either traditional 2D methods or automatic measurements based on sterEOS 3D reconstructions. Manual measurements were performed three times, and sterEOS 3D reconstructions and automatic measurements were performed two times by each examiner. Means comparison t test, Pearson bivariate correlation analysis, reliability analysis by intraclass correlation coefficients for intraobserver reproducibility and interrater reliability were performed using SPSS v16.0 software (IBM Corp., Armonk, NY, USA). No funds were received in support of this work. No benefits in any form have been or will be received from a commercial party related directly or indirectly to the subject of this article. RESULTS: In comparison with manual 2D methods, only small and nonsignificant differences were detectable in sterEOS 3D-based curvature data. Intraobserver reliability was excellent for both methods, and interrater reproducibility was consistently higher for sterEOS 3D methods that was found to be unaffected by the magnitude of coronal curves or sagittal plane deviations. CONCLUSIONS: This is the first clinical report on EOS 2D/3D system (EOS Imaging, Paris, France) and its sterEOS 3D software, documenting an excellent capability for accurate, reliable, and reproducible spinal curvature measurements.

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BACKGROUND CONTEXT: For many decades, visualization and evaluation of three-dimensional (3D) spinal deformities have only been possible by two-dimensional (2D) radiodiagnostic methods, and as a result, characterization and classification were based on 2D terminologies. Recent developments in medical digital imaging and 3D visualization techniques including surface 3D reconstructions opened a chance for a long-sought change in this field. Supported by a 3D Terminology on Spinal Deformities of the Scoliosis Research Society, an approach for 3D measurements and a new 3D classification of scoliosis yielded several compelling concepts on 3D visualization and new proposals for 3D classification in recent years. More recently, a new proposal for visualization and complete 3D evaluation of the spine by 3D vertebra vectors has been introduced by our workgroup, a concept, based on EOS 2D/3D, a groundbreaking new ultralow radiation dose integrated orthopedic imaging device with sterEOS 3D spine reconstruction software. PURPOSE: Comparison of accuracy, correlation of measurement values, intraobserver and interrater reliability of methods by conventional manual 2D and vertebra vector-based 3D measurements in a routine clinical setting. STUDY DESIGN: Retrospective, nonrandomized study of diagnostic X-ray images created as part of a routine clinical protocol of eligible patients examined at our clinic during a 30-month period between July 2007 and December 2009. PATIENT SAMPLE: In total, 201 individuals (170 females, 31 males; mean age, 19.88 years) including 10 healthy athletes with normal spine and patients with adolescent idiopathic scoliosis (175 cases), adult degenerative scoliosis (11 cases), and Scheuermann hyperkyphosis (5 cases). Overall range of coronal curves was between 2.4 and 117.5°. Analysis of accuracy and reliability of measurements was carried out on a group of all patients and in subgroups based on coronal plane deviation: 0 to 10° (Group 1; n=36), 10 to 25° (Group 2; n=25), 25 to 50° (Group 3; n=69), 50 to 75° (Group 4; n=49), and above 75° (Group 5; n=22). METHODS: All study subjects were examined by EOS 2D imaging, resulting in anteroposterior (AP) and lateral (LAT) full spine, orthogonal digital X-ray images, in standing position. Conventional coronal and sagittal curvature measurements including sagittal L5 vertebra wedges were determined by 3 experienced examiners, using traditional Cobb methods on EOS 2D AP and LAT images. Vertebra vector-based measurements were performed as published earlier, based on computer-assisted calculations of corresponding spinal curvature. Vertebra vectors were generated by dedicated software from sterEOS 3D spine models reconstructed from EOS 2D images by the same three examiners. Manual measurements were performed by each examiner, thrice for sterEOS 3D reconstructions and twice for vertebra vector-based measurements. Means comparison t test, Pearson bivariate correlation analysis, reliability analysis by intraclass correlation coefficients for intraobserver reproducibility and interrater reliability were performed using SPSS v16.0 software. RESULTS: In comparison with manual 2D methods, only small and nonsignificant differences were detectable in vertebra vector-based curvature data for coronal curves and thoracic kyphosis, whereas the found difference in L1-L5 lordosis values was shown to be strongly related to the magnitude of corresponding L5 wedge. Intraobserver reliability was excellent for both methods, and interrater reproducibility was consistently higher for vertebra vector-based methods that was also found to be unaffected by the magnitude of coronal curves or sagittal plane deviations. CONCLUSIONS: Vertebra vector-based angulation measurements could fully substitute conventional manual 2D measurements, with similar accuracy and higher intraobserver reliability and interrater reproducibility. Vertebra vectors represent a truly 3D solution for clear and comprehensible 3D visualization of spinal deformities while preserving crucial parametric information for vertebral size, 3D position, orientation, and rotation. The concept of vertebra vectors may serve as a starting point to a valid and clinically useful alternative for a new 3D classification of scoliosis.

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BACKGROUND: The EOS™ X-ray machine, based on a Nobel prize-winning invention in physics in the field of particle detection, is capable of a simultaneous capture of biplanar X-ray images by slot scanning of the whole body in an upright, physiological load-bearing position, using ultra-low radiation doses. The simultaneous capture of spatially calibrated anterioposterior and lateral images provides a three-dimensional (3D) surface reconstruction of the skeletal system using a special software. Parts of the skeletal system in X-ray images and 3D-reconstructed models appear in true 1:1 scale for size and volume, thus spinal and vertebral parameters, lower limb axis lengths and angles, as well as any relevant clinical parameters in orthopaedic practice can be very precisely measured and calculated. Visualisation of 3D reconstructed models in various views by sterEOS 3D software enables presentation of top view images to help analyse rotational conditions of lower limbs, joints and spine deformities in the horizontal plane, providing revolutionary novel possibilities in orthopaedic surgery, especially in spine surgery. APPROACH AND CONCLUSIONS: Our department has been extensively using the very first commercially available EOS™ imaging system worldwide for routine orthopaedic diagnostics since June 2007. During this period of about 4.5 years, more than 5,700 standard examinations have been carried out, about a third of them in spine deformity cases and the rest in lower limb orthopaedic cases. In this mini-review, general principles and uses of this groundbreaking integrated orthopaedic solution is reviewed with a few highlighted examples from our own clinical practice.

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The EOS™ X-ray machine, based on a Nobel prize-winning invention in Physics in the field of particle detection, is capable of simultaneously capturing biplanar X-ray images by slot scanning of the whole body in an upright, physiological load-bearing position, using ultra low radiation doses. The simultaneous capture of spatially calibrated anterioposterior and lateral images allows the performance of a three-dimensional (3D) surface reconstruction of the skeletal system by a special software. Parts of the skeletal system in X-ray images and 3D-reconstructed models appear in true 1:1 scale for size and volume, thus spinal and vertebral parameters, lower limb axis lengths and angles, as well as any relevant clinical parameters in orthopedic practice could be very precisely measured and calculated. Visualization of 3D reconstructed models in various views by the sterEOS 3D software enables the presentation of top view images, through which one can analyze the rotational conditions of lower limbs, joints and spine deformities in horizontal plane and this provides revolutionary novel possibilities in orthopedic surgery, especially in spine surgery.

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PURPOSE: EOS 2D/3D is an integrated, low-dose orthopedic digital radioimaging solution, which, due to its groundbreaking properties, has recently shown an increasing application in scoliosis surgery. Its integrated sterEOS 3D software allows creation of patient-specific three-dimensional (3D) lower limb models, and can produce geometrical parameters in 3D. Currently there are a limited number of reports on EOS for lower limb applications. METHODS: Three-dimensional reconstructions of 256 hip and knee joints of 128 healthy subjects, as well as 53 hips and 46 knees of 69 patients with hip or knee arthritis, were evaluated based on orthogonal EOS two-dimensional (2D) images. Measurements for hips included femur and tibia length, total length of the extremity, femoral antetorsion and offset, femoral neck length, neck-shaft and hip-knee-shaft (HKS) angles. Lower limb alignment in both frontal and sagittal planes were determined in normal and arthritic knees. Values were compared with those obtained by standard methods published by others. RESULTS: Normal hip and knee geometrical parameters were found in our healthy subjects. In osteoarthritic cases, values for neck-shaft angle, femoral antetorsion, femur length and total length of the extremity were shown to decrease non-significantly. Evaluation of lower limb alignment in healthy and arthritic knees showed normal values in healthy subjects apart from three cases with an average six degrees varus. Arthritic knees were most frequently found to have a varus angulation, with the exception of 11 cases with normal or valgus alignment. CONCLUSION: EOS 2D/3D with its sterEOS 3D reconstruction is useful for a comprehensive 3D examination of the lower limb. In the near future it may be suitable for daily routine diagnostics of orthopedic lower limb deformities as a primary examination method.

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UNLABELLED: Type 1 neurofibromatosis is an autosomal dominant hamartosis caused by mutations of the neurofibromin-1 gene. The classic features of the clinical phenotype include the presence of café-au-lait spots, neurofibromas, axillary and inguinal freckling, Lisch-nodules and deformities of the skeletal system, as well as the risk of developing multiple tumors, especially in the central nervous system. However, it is known from the literature that the phenotypic variability can pose a huge diagnostic difficulty. AIMS: Our institute performs molecular genetic testing of the neurofibromin-1 gene since 2008; during this period several unusual phenotypic variants were found. RESULTS, CONCLUSION: The reported four cases represent interesting phenotypic variants or diagnostic challenges in which the final diagnosis was established by molecular genetic analysis.

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UNLABELLED: Type 1 neurofibromatosis is an autosomal dominant hamartosis, caused by mutations of the gene neurofibromin-1. The variable clinical phenotype is characterized by café-au-lait spots, benign neurofibromas, axillary, inguinal hyperpigmentations, iris hamartomas, skeletal deformities and risk of neurofibroma-development. Pathogenic variations of neurofibromin-1 arise as de novo mutations in approx. 50% of the cases. AIMS: Molecular genetic testing of neurofibromin-1 gene has been performed in our department since 2008; the following report summarizes our experiences. METHODS: 40 patients, presenting symptoms of type 1 neurofibromatosis, were screened by sequencing or multiplex ligation-dependent probe amplification. RESULTS: Pathogenic alterations were identified in 31 cases, 8 patients presented novel mutations. In 8 affected, no mutations were detected by sequencing; one of these patients had a deletion affecting the entire gene. CONCLUSIONS: Sequencing of the neurofibromin-1 gene and screening for rearrangements are useful in identifying pathogenic alterations in most of the cases.

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STUDY DESIGN: a genetic association study was performed on 126 patients with adolescent idiopathic scoliosis and 197 healthy controls from independent Hungarian pedigrees. OBJECTIVE: to reveal implication of promoter polymorphisms of bone morphogenetic protein 4 (BMP4), interleukin-6 (IL6), leptin, matrix metalloproteinase-3 (MMP3), melatonin 1B receptor (MTNR1B) genes in adolescent idiopathic scoliosis (AIS). Combinatorial association of these candidate genes was also studied to detect additive effect of certain single-nucleotide polymorphism (SNP) patterns. SUMMARY OF BACKGROUND DATA: it was previously unraveled that IL6, MMP3, and MTNR1B genes could be considered as predisposition genes of AIS. Since BMP4 and leptin play a central role in bone formation and remodeling and are in direct interaction with melatonin, IL6, and MMP3, these also can be potential predisposition genes. METHODS: the genotyping was determined by polymerase chain reaction-restriction fragment length polymorphism. RESULTS: at a single gene level, no significant differences were found for allele and genotype frequencies of the polymorphisms of these genes between cases or controls; therefore, the formerly detected association of IL6, MMP3, and MTNR1B with AIS was not confirmed in the Hungarian population by independent SNP analysis. However, significantly increased AIS risk was observed at particular combinations of genotypes of paired SNPs of the candidate genes. CONCLUSIONS: the genetic effect of promoter polymorphisms of BMP4, IL6, leptin, MMP3, and MTNR1B can be synergistic for susceptibility to AIS. The combinatorial effect can modulate the final biological impact of many susceptibility polymorphisms; therefore, this should be considered at the comparison of results from case-control studies of different populations.

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Scoliosis is a multifactorial three-dimensional (3D) spinal deformity with integral and directly related vertebral deviations in the coronal, sagittal and horizontal planes. Current classification and diagnostic methods rely on two-dimensional (2D) frontal and lateral X-ray images; no routine methods are available for the visualization and quantitative evaluation of deviations in the horizontal plane. The EOS 2D/3D system presented here is a new, low-dose, orthopedic radiodiagnostic device based on Nobel prize-winning X-ray detection technology with special software for 3D surface reconstruction capabilities that finally led to a breakthrough in scoliosis diagnosis with high-quality, realistic 3D visualization and accurate quantitative parametric analysis. A new concept introducing vertebra vectors and vertebra vector parametric calculations is introduced that furnishes simplified visual and intelligible mathematical information facilitating interpretation of EOS 2D/3D data, especially with regard to the horizontal plane top view images. The concept is demonstrated by a reported scoliotic case that was readily characterized through information derived from vertebra vectors alone, supplemented with the current angulation measurement methods in the coronal and sagittal planes and axial vertebral rotation measurements in the horizontal plane, with a calibrated 3D coordinate system suitable for inter-individual comparisons. The new concept of vertebra vectors may serve as a basis for a truly 3D classification of scoliosis.

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The EOS system is a new medical imaging device based on low-dose X-rays, gaseous detectors and dedicated software for 3D reconstruction. It was developed by Nobel prizewinner Georges Charpak. A new concept--the vertebral vector--is used to facilitate the interpretation of EOS data, especially in the horizontal plane. We studied 95 cases of idiopathic scoliosis before and after surgery by means of classical methods and using vertebral vectors, in order to compare the accuracy of the two approaches. The vertebral vector permits simultaneous analysis of the scoliotic curvature in the frontal, sagittal and horizontal planes, as precisely as classical methods. The use of the vertebral vector simplifies and facilitates the interpretation of the mass of information provided by EOS. After analyzing the horizontal data, the first goal of corrective intervention would be to reduce the lateral vertebral deviation. The reduction in vertebral rotation seems less important. This is a new element in the therapeutic management of spinal deformations.

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