Segmental torso masses in adolescent idiopathic scoliosis

Background Adolescent Idiopathic Scoliosis is the most common type of spinal deformity whose aetiology remains unclear. Studies suggest that gravitational forces in the standing position play an important role in scoliosis progression, therefore anthropometric data are required to develop biomechanical models of the deformity. Few studies have analysed the trunk by vertebral level and none have performed investigations of the scoliotic trunk. The aim of this study was to determine the centroid, thickness, volume and estimated mass, for sections of the trunk in Adolescent Idiopathic Scoliosis patients. Methods Existing low-dose Computed Tomography scans were used to estimate vertebral level-by-level torso masses for 20 female Adolescent Idiopathic Scoliosis patients. ImageJ processing software was used to analyse the Computed Tomography images and enable estimation of the segmental torso mass corresponding to each vertebral level. Findings The patients’ mean age was 15.0 (SD 2.7) years with mean major Cobb Angle of 52° (SD 5.9) and mean patient weight of 58.2 (SD 11.6) kg. The magnitude of torso segment mass corresponding to each vertebral level increased by 150% from 0.6kg at T1 to 1.5kg at L5. Similarly, the segmental thickness corresponding to each vertebral level from T1-L5 increased inferiorly from a mean 18.5 (SD 2.2) mm at T1 to 32.8 (SD 3.4) mm at L5. The mean total trunk mass, as a percentage of total body mass, was 27.8 (SD 0.5) % which was close to values reported in previous literature. Interpretation This study provides new anthropometric reference data on segmental (vertebral level-by-level) torso mass in Adolescent Idiopathic Scoliosis patients, useful for biomechanical models of scoliosis progression and treatment.

Evaluation of a patient-specific finite-element model to simulate conservative treatment in adolescent idiopathic scoliosis

Study design Retrospective validation study. Objectives To propose a method to evaluate, from a clinical standpoint, the ability of a finite-element model (FEM) of the trunk to simulate orthotic correction of spinal deformity and to apply it to validate a previously described FEM. Summary of background data Several FEMs of the scoliotic spine have been described in the literature. These models can prove useful in understanding the mechanisms of scoliosis progression and in optimizing its treatment, but their validation has often been lacking or incomplete. Methods Three-dimensional (3D) geometries of 10 patients before and during conservative treatment were reconstructed from biplanar radiographs. The effect of bracing was simulated by modeling displacements induced by the brace pads. Simulated clinical indices (Cobb angle, T1–T12 and T4–T12 kyphosis, L1–L5 lordosis, apical vertebral rotation, torsion, rib hump) and vertebral orientations and positions were compared to those measured in the patients' 3D geometries. Results Errors in clinical indices were of the same order of magnitude as the uncertainties due to 3D reconstruction; for instance, Cobb angle was simulated with a root mean square error of 5.7°, and rib hump error was 5.6°. Vertebral orientation was simulated with a root mean square error of 4.8° and vertebral position with an error of 2.5 mm. Conclusions The methodology proposed here allowed in-depth evaluation of subject-specific simulations, confirming that FEMs of the trunk have the potential to accurately simulate brace action. These promising results provide a basis for ongoing 3D model development, toward the design of more efficient orthoses.

Morphometric analysis of the thoracic intervertebral foramen osseous anatomy in adolescent idiopathic scoliosis using low dose computerized tomography

Introduction. The dimensions of the thoracic intervertebral foramen in adolescent idiopathic scoliosis (AIS) have not previously been quantified. During posterior approach scoliosis correction surgery pedicle screws may occasionally breach into the foramen. Better understanding of the dimensions of the foramen may be useful in surgical planning. This study describes a reproducible method for measurement of the thoracic foramen in AIS using computerized tomography (CT). Methods. In 23 pre-operative female patients with Lenke 1 type AIS with right side convexity major curves confined to the thoracic spine the foraminal height (FH), foraminal width (FW), pedicle to superior articular process distance (P-SAP) and cross sectional foraminal area (FA) were measured using multiplanar reconstructed CT. Measurements were made at entrance, midpoint and exit of the thoracic foramina from T1/T2 to T11/T12. Results were correlated with potential dependent variables of major curve Cobb Angle measured on X-ray and CT, Age, Weight, Lenke classification subtype, Risser Grade and number of spinal levels in the major curve. Results. The FH, FW, P-SAP and FA dimensions and ratios are all significantly larger on the convexity of the major curve and maximal at or close to the apex. Mean thoracic foraminal dimensions change in a predictable manner relative to position on the major thoracic curve. There was no significant correlation with the measured foraminal dimensions or ratios and the potential dependent variables. The average ratio of convexity to concavity dimensions at the apex foramina for entrance, midpoint and exit respectively are FH (1.50, 1.38, 1.25), FW (1.28, 1.30, 0.98), FA (2.06, 1.84, 1.32), P-SAP (1.61, 1.47, 1.30). Conclusion. Foraminal dimensions of the thoracic spine are significantly affected by AIS. Foraminal dimensions have a predictable convexity to concavity ratio relative to the proximity to the major curve apex. Surgeons should be aware of these anatomical differences during scoliosis correction surgery.

Using axially loaded MRI to investigate the biomechanics of adolescent idiopathic scoliosis

Introduction. Spinal flexibility measurement is an important aspect of pre-operative clinical assessment in the treatment of Adolescent Idiopathic Scoliosis (AIS). Clinically, curve flexibility is a combined measure for all vertebral levels. We propose that in vivo flexibility for individual spinal joints could provide valuable additional information in planning treatment for scoliosis. Methods. Individual spinal joint flexibility in the coronal plane was measured for a series of AIS patients using axially loaded magnetic resonance imaging. Each patient underwent magnetic resonance imaging in the supine position, with no axial load, and then following application of an axial compressive load equal to half the patient’s bodyweight. Coronal plane disc wedge angles in the unloaded and loaded configurations were measured. Joint moments exerted by the axial compressive load were used to derive estimates of individual joint compliance. Results. Fifteen AIS patients were included in the study (mean clinical Cobb angle 46 degrees, mean age 15.3 years). Mean intra-observer measurement error for endplate inclination was 1.6˚. The mean increase in measured major Cobb angle between unloaded and loaded scans was 7.6˚. For certain spinal levels (+2,+1,-2 relative to the apex) there was a statistically significant relationship between change in wedge angle under load and initial wedge angle, such that initially highly wedged discs demonstrated a smaller change in wedge angle than less wedged discs. Highly wedged discs were observed near the apex of the curve, which corresponded to lower joint compliance in the apical region. Conclusion. Approaches such as this can provide valuable biomechanical data on in vivo spinal biomechanics in AIS. Knowledge of individual joint flexibility may assist surgeons to determine which spinal procedure is most appropriate for a patient, which levels should be included in a spinal fusion and the relative mobility of individual joints in the deformed region of the spine.

Using low dose computerized tomography to morphometrically analyse the thoracic intervertebral foramen osseous anatomy in adolescent idiopathic scoliosis

INTRODUCTION The dimensions of the thoracic intervertebral foramen in adolescent idiopathic scoliosis (AIS) have not previously been quantified. During posterior approach scoliosis correction surgery pedicle screws may occasionally breach into the foramen. Better understanding of the dimensions of the foramen may be useful in surgical planning. This study describes a reproducible method for measurement of the thoracic foramen in AIS using computerized tomography (CT). METHODS In 23 pre-operative female patients with Lenke 1 type AIS with right side convexity major curves confined to the thoracic spine the foraminal height (FH), foraminal width (FW), pedicle to superior articular process distance (P-SAP) and cross sectional foraminal area (FA) were measured using multiplanar reconstructed CT. Measurements were made at entrance, midpoint and exit of the thoracic foramina from T1/T2 to T11/T12. Results were correlated with potential dependent variables of major curve Cobb Angle measured on X-ray and CT, Age, Weight, Lenke classification subtype, Risser Grade and number of spinal levels in the major curve. RESULTS The FH, FW, P-SAP and FA dimensions and ratios are all significantly larger on the convexity of the major curve and maximal at or close to the apex. Mean thoracic foraminal dimensions change in a predictable manner relative to position on the major thoracic curve. There was no significant correlation with the measured foraminal dimensions or ratios and the potential dependent variables. The average ratio of convexity to concavity dimensions at the apex foramina for entrance, midpoint and exit respectively are FH (1.50, 1.38, 1.25), FW (1.28, 1.30, 0.98), FA (2.06, 1.84, 1.32), P-SAP (1.61, 1.47, 1.30). CONCLUSION Foraminal dimensions of the thoracic spine are significantly affected by AIS. Foraminal dimensions have a predictable convexity to concavity ratio relative to the proximity to the major curve apex. Surgeons should be aware of these anatomical differences during scoliosis correction surgery.

Quantifying progressive anterior overgrowth in the thoracic vertebrae of adolescent idiopathic scoliosis patients

Study design Anterior and posterior vertebral body heights were measured from sequential MRI scans of adolescent idiopathic scoliosis (AIS) patients and healthy controls. Objective To measure changes in vertebral body height over time during scoliosis progression to assess how vertebral body height discrepancies change during growth. Summary of background data Relative anterior overgrowth has been proposed as a potential driver for AIS initiation and progression. This theory proposes that the anterior column grows faster, and the posterior column slower, in AIS patients when compared to healthy controls. There is disagreement in the literature as to whether the anterior vertebral body heights are proportionally greater than posterior vertebral body heights in AIS patients when compared to healthy controls. To some extent, these discrepancies may be attributed to methodological differences. Methods MRI scans of the major curve of 21 AIS patients (mean age 12.5 ± 1.4 years, mean Cobb 32.2 ± 12.8º) and between T4 and T12 of 21 healthy adolescents (mean age 12.1 ± 0.5 years) were captured for this study. Of the 21 AIS patients, 14 had a second scan on average 10.8 ± 4.7 months after the first. Anterior and posterior vertebral body heights were measured from the true sagittal plane of each vertebra such that anterior overgrowth could be quantified. Results The difference between anterior and posterior vertebral body height in healthy, non-scoliotic children was significantly greater than in AIS patients with mild to moderate scoliosis. However there was no significant relationship between the overall anterior-posterior vertebral body height difference in AIS and either severity of the curve or its progression over time. Conclusions Whilst AIS patients have a proportionally longer anterior column than non-scoliotic controls, the degree of anterior overgrowth was not related to the rate of progression or the severity of the scoliotic curve.

Gravity-induced coronal plane joint moments in adolescent idiopathic scoliosis

Background Adolescent Idiopathic Scoliosis is the most common type of spinal deformity, and whilst the risk of progression appears to be biomechanically mediated (larger deformities are more likely to progress), the detailed biomechanical mechanisms driving progression are not well understood. Gravitational forces in the upright position are the primary sustained loads experienced by the spine. In scoliosis they are asymmetrical, generating moments about the spinal joints which may promote asymmetrical growth and deformity progression. Using 3D imaging modalities to estimate segmental torso masses allows the gravitational loading on the scoliotic spine to be determined. The resulting distribution of joint moments aids understanding of the mechanics of scoliosis progression. Methods Existing low-dose CT scans were used to estimate torso segment masses and joint moments for 20 female scoliosis patients. Intervertebral joint moments at each vertebral level were found by summing the moments of each of the torso segment masses above the required joint. Results The patients’ mean age was 15.3 years (SD 2.3; range 11.9 – 22.3 years); mean thoracic major Cobb angle 52° (SD 5.9°; range 42°-63°) and mean weight 57.5 kg (SD 11.5 kg; range 41 – 84.7 kg). Joint moments of up to 7 Nm were estimated at the apical level. No significant correlation was found between the patients’ major Cobb angles and apical joint moments. Conclusions Patients with larger Cobb angles do not necessarily have higher joint moments, and curve shape is an important determinant of joint moment distribution. These findings may help to explain the variations in progression between individual patients. This study suggests that substantial corrective forces are required of either internal instrumentation or orthoses to effectively counter the gravity-induced moments acting to deform the spinal joints of idiopathic scoliosis patients.

Does Bracing affect Bone Health in Females with adolescent Idiopathic Scoliosis?

This study examined the bone mineral content (BMC) in young women with Adolescent Idiopathic Scoliosis (AIS), treated with a brace (27.9 ±21.6 months, for 18.0±5.4 h/d) during adolescence (AIS-B, n = 15, 25.6 ±5.8 yrs), versus women with AIS but no treatment (AIS-NB, n = 15, 24.0 ±4.0 yrs), and women without AIS (C, n = 19, 23.5 ±3.8 yrs). After controlling for lean body mass, calcium and vitamin D daily intake, and strenuous physical activity, femoral neck BMC was lower in the AIS-B compared with AIS-NB and C (all p’s < .05). In summary, women with AIS, braced during their growing years are characterized by low lower limb BMC. However, the lack of a relationship between brace treatment duration and BMC, suggests that bracing was not the likely mechanism.

Does bracing affect bone health in women with adolescent idiopathic scoliosis?

Purpose: Adolescent idiopathic scoliosis (AIS) is often associated with low bone mineral content and density (BMC, BMD). Bracing, used to manage spine curvature, may interfere with the growth-related BMC accrual, resulting in reduced bone strength into adulthood. The purpose of this study was to assess the effects of brace treatment on BMC in adult women, diagnosed with AIS and braced in early adolescence. Methods: Participants included women with AIS who: (i) underwent brace treatment (AIS-B, n = 15, 25.6 ± 5.8 yrs), (ii) underwent no treatment (AIS, n = 15, 24.0 ± 4.0 yrs), and (iii) a healthy comparison group (CON, n = 19, 23.5 ± 3.8 yrs). BMC and body composition were assessed using dual-energy X-ray absorptiometry. Differences between groups were examined using a oneway ANOVA or ANCOVA, as appropriate. Results: AIS-B underwent brace treatment 27.9 ± 21.6 months, for 18.0 ± 5.4 h/d. Femoral neck BMC was lower (p = 0.06) in AIS-B (4.54 ± 0.10 g) compared with AIS (4.89 ± 0.61 g) and CON (5.07 ± 0.58 g). Controlling for lean body mass, calcium and vitamin D daily intake, and strenuous physical activity, femoral neck BMC was statistically different (p = 0.02) between groups. A similar pattern was observed at other lower extremity sites (p < 0.05), but not in the spine or upper extremities. BMC and BMD did not correlate with duration of brace treatment, duration of daily brace wear, or overall physical activity. Conclusion: Young women with AIS, especially those who were treated with a brace, have significantly lower BMC in their lower limbs compared to women without AIS. However, the lack of a relationship between brace treatment duration during adolescence and BMC during young adulthood, suggests that the brace treatment is not the likely mechanism of the low BMC.

The role of transcription factor Pitx1 and its regulation by hypoxia in Adolescent Idiopathic Scoliosis

La scoliose idiopathique de l’adolescent (SIA) est définie comme une courbure de la colonne vertébrale supérieure à 10 degrés, qui est de cause inconnue et qui affecte de façon prépondérante les adolescents. Des études précédentes sur des modèles murins ont démontré une inactivation partielle du gène Pitx1. Cette inactivation partielle provoque une déformation spinale sévère lors du développement des souris Pitx1+/-, ce qui est grandement similaire au phénotype de la SIA. En se basant sur ces observations, nous postulons que la perte de fonction de Pitx1 pourrait avoir un rôle dans la SIA et pourrait être régulée par des mécanismes moléculaires spécifiques. En effet, des études faites sur l’expression de Pitx1 révèlent une perte de son expression dans les ostéoblastes dérivés de patients SIA au niveau de l’ARNm. Nous émettons l’hypothèse que la perte de Pitx1 dans la SIA pourrait être déclenchée par des facteurs hypoxiques puisqu’il est connu que Pitx1 est réprimé par l’hypoxie et que HIF-2 alpha est surexprimés dans les ostéoblastes des patients SIA même dans des conditions normoxiques. De plus, nous avons découvert une mutation dans le domaine ODD des HIF-1 alpha chez certains patients SIA (3,1%). Une fonction connue de ce domaine est de stabiliser et d’augmenter l’activité transcriptionnelle de HIF-1 alpha dans des conditions normoxiques. Nous avons confirmé, par la technique EMSA, l’existence d’un élément de réponse fonctionnel à l’hypoxie au niveau du promoteur de Pitx1. Cependant, des co-transfections avec des vecteurs d’expression pour HIF-1 alpha et HIF-2 alpha, en présence de leur sous-unité beta ARNT, ont conduit à une activation du promoteur de Pitx1 dans la lignée cellulaire MG-63 ainsi que dans les ostéoblastes des sujets contrôles. Il est intéressant de constater qu’aucune activité du promoteur de Pitx1 dans les ostéoblastes SIA n’a été observée, même après la co-expression de HIF-2 alpha et ARNT, confirmant le fait que l’expression de Pitx1 est abrogée dans la SIA. Dans l’ensemble, nos résultats démontrent un rôle important de Pitx1 dans la SIA et une possible régulation par des facteurs hypoxiques.

The use of artificial intelligence algorithms to guide surgical treatment of adolescent idiopathic scoliosis

La scoliose idiopathique de l’adolescent (SIA) est une déformation tri-dimensionelle du rachis. Son traitement comprend l’observation, l’utilisation de corsets pour limiter sa progression ou la chirurgie pour corriger la déformation squelettique et cesser sa progression. Le traitement chirurgical reste controversé au niveau des indications, mais aussi de la chirurgie à entreprendre. Malgré la présence de classifications pour guider le traitement de la SIA, une variabilité dans la stratégie opératoire intra et inter-observateur a été décrite dans la littérature. Cette variabilité s’accentue d’autant plus avec l’évolution des techniques chirurgicales et de l’instrumentation disponible. L’avancement de la technologie et son intégration dans le milieu médical a mené à l’utilisation d’algorithmes d’intelligence artificielle informatiques pour aider la classification et l’évaluation tridimensionnelle de la scoliose. Certains algorithmes ont démontré être efficace pour diminuer la variabilité dans la classification de la scoliose et pour guider le traitement. L’objectif général de cette thèse est de développer une application utilisant des outils d’intelligence artificielle pour intégrer les données d’un nouveau patient et les évidences disponibles dans la littérature pour guider le traitement chirurgical de la SIA. Pour cela une revue de la littérature sur les applications existantes dans l’évaluation de la SIA fut entreprise pour rassembler les éléments qui permettraient la mise en place d’une application efficace et acceptée dans le milieu clinique. Cette revue de la littérature nous a permis de réaliser que l’existence de “black box” dans les applications développées est une limitation pour l’intégration clinique ou la justification basée sur les évidence est essentielle. Dans une première étude nous avons développé un arbre décisionnel de classification de la scoliose idiopathique basé sur la classification de Lenke qui est la plus communément utilisée de nos jours mais a été critiquée pour sa complexité et la variabilité inter et intra-observateur. Cet arbre décisionnel a démontré qu’il permet d’augmenter la précision de classification proportionnellement au temps passé à classifier et ce indépendamment du niveau de connaissance sur la SIA. Dans une deuxième étude, un algorithme de stratégies chirurgicales basé sur des règles extraites de la littérature a été développé pour guider les chirurgiens dans la sélection de l’approche et les niveaux de fusion pour la SIA. Lorsque cet algorithme est appliqué à une large base de donnée de 1556 cas de SIA, il est capable de proposer une stratégie opératoire similaire à celle d’un chirurgien expert dans prêt de 70% des cas. Cette étude a confirmé la possibilité d’extraire des stratégies opératoires valides à l’aide d’un arbre décisionnel utilisant des règles extraites de la littérature. Dans une troisième étude, la classification de 1776 patients avec la SIA à l’aide d’une carte de Kohonen, un type de réseaux de neurone a permis de démontrer qu’il existe des scoliose typiques (scoliose à courbes uniques ou double thoracique) pour lesquelles la variabilité dans le traitement chirurgical varie peu des recommandations par la classification de Lenke tandis que les scolioses a courbes multiples ou tangentielles à deux groupes de courbes typiques étaient celles avec le plus de variation dans la stratégie opératoire. Finalement, une plateforme logicielle a été développée intégrant chacune des études ci-dessus. Cette interface logicielle permet l’entrée de données radiologiques pour un patient scoliotique, classifie la SIA à l’aide de l’arbre décisionnel de classification et suggère une approche chirurgicale basée sur l’arbre décisionnel de stratégies opératoires. Une analyse de la correction post-opératoire obtenue démontre une tendance, bien que non-statistiquement significative, à une meilleure balance chez les patients opérés suivant la stratégie recommandée par la plateforme logicielle que ceux aillant un traitement différent. Les études exposées dans cette thèse soulignent que l’utilisation d’algorithmes d’intelligence artificielle dans la classification et l’élaboration de stratégies opératoires de la SIA peuvent être intégrées dans une plateforme logicielle et pourraient assister les chirurgiens dans leur planification préopératoire.

Screening for adolescent idiopathic scoliosis: an information statement by the scoliosis research society international task force

Background: Routine screening of scoliosis is a controversial subject and screening efforts vary greatly around the world. METHODS: Consensus was sought among an international group of experts (seven spine surgeons and one clinical epidemiologist) using a modified Delphi approach. The consensus achieved was based on careful analysis of a recent critical review of the literature on scoliosis screening, performed using a conceptual framework of analysis focusing on five main dimensions: technical, clinical, program, cost and treatment effectiveness. FINDINGS: A consensus was obtained in all five dimensions of analysis, resulting in 10 statements and recommendations. In summary, there is scientific evidence to support the value of scoliosis screening with respect to technical efficacy, clinical, program and treatment effectiveness, but there insufficient evidence to make a statement with respect to cost effectiveness. Scoliosis screening should be aimed at identifying suspected cases of scoliosis that will be referred for diagnostic evaluation and confirmed, or ruled out, with a clinically significant scoliosis. The scoliometer is currently the best tool available for scoliosis screening and there is moderate evidence to recommend referral with values between 5 degrees and 7 degrees. There is moderate evidence that scoliosis screening allows for detection and referral of patients at an earlier stage of the clinical course, and there is low evidence suggesting that scoliosis patients detected by screening are less likely to need surgery than those who did not have screening. There is strong evidence to support treatment by bracing. INTERPRETATION: This information statement by an expert panel supports scoliosis screening in 4 of the 5 domains studied, using a framework of analysis which includes all of the World Health Organisation criteria for a valid screening procedure.

Identification of Genomic Variants Associated with Adolescent Idiopathic Scoliosis (AIS) in French-Canadian Population

La scoliose idiopathique est une déformation tridimensionnelle de la colonne vertébrale dont la pathogenèse reste obscure. Cette maladie affecte 2-4% des adolescents de 10-18 ans parmi les garçons et les filles. Il est à noter que les filles sont plus sévèrement affectées et ce en plus grand nombre que les garçons. Les études de jumeaux ont montré que les facteurs génétiques jouent un rôle important dans la scoliose idiopathique de l'adolescent (SIA). Depuis 2010, les études d'association pan génomiques ont été multipliées dans les recherches, visant à trouver des gènes candidats impliqués dans la SIA à travers des examens des polymorphismes nucléotidiques (SNPs). Un test génétique nommé "ScoliScore" a été publié pour essayer de prédire la progression de courbure dans la population caucasienne. Cependant, l'association n'a pas été reproduite dans une grande étude japonaise, soulignant l'importance d'une étude de réplication dans une population caucasienne indépendante. Dans ce contexte, mon projet de maîtrise a permis de génotyper plus de 1,4 millions de SNPs dans une cohorte canadienne-française dans le but: 1) de valider l'association de ScoliScoreTM; et 2) d’identifier les variants génomiques associées à la SIA dans la population québécoise. Notre étude a montré qu’aucun des variants constituant le test ScoliScoreTM n’était associé à la SIA. Ceci suggère que l'absence d'association dans une cohorte japonaise n'est pas due à l'appartenance ethnique. Aussi, nous avons identifié des variants génomiques associés significativement à l’initiation et/ou la progression de SIA dans la population québécoise, suggérant des gènes candidats impliqués dans la pathogenèse de SIA.

Is Breast Asymmetry Present in Girls with Adolescent Idiopathic Scoliosis?

Study Design Cross-sectional descriptive study. Objectives To characterize breast asymmetry (BA), as defined by breast volume difference, in girls with significant adolescent idiopathic scoliosis (AIS), using magnetic resonance imaging (MRI). Summary and Background BA is a frequent concern among girls with AIS. It is commonly believed that this results from chest wall deformity. Although many women exhibit physiological BA, the prevalence is not known in adolescents and it remains unclear if it is more frequent in AIS. Breasts vary in shape and size and many ways of measuring them have been explored. MRI shows the highest precision at defining breast tissue. Methods Thirty patients were enrolled on the basis of their thoracic curvature, skeletal and breast maturity, without regard to their perception on their BA. MRI acquisitions were performed in prone with a 1.5-Tesla system using a 16-channel breast coil. Segmentation was achieved using the ITK-SNAP 2.4.0 software and subsequently manually refined. Results The mean left breast volume (528.32 ± 205.96 cc) was greater compared with the mean right breast volume (495.18 ± 170.16 cc) with a significant difference between them. The mean BA was found to be 8.32% ± 6.43% (p < .0001). A weak positive correlation was observed between BA and thoracic Cobb angle (0.177, p = .349) as well as thoracic gibbosity angle (0.289, p = .122). The left breast was consistently larger in 65.5% of the patients. Twenty patients (66.7%) displayed BA ≥5%. Conclusions We have described BA in patients with significant AIS using MRI. This method is feasible, objective, and very precise. The majority of patients had a larger left breast, which could compound the apparent BA secondary to trunk rotation. In many cases, BA is present independently of thoracic deformity. This knowledge will assist in counseling AIS patients in regards to their concerns with BA.

Genetic aspects of adolescent idiopathic scoliosis in a family with multiple affected members: a research article

Abstract Background The etiology of idiopathic scoliosis remains unknown and different factors have been suggested as causal. Hereditary factors can also determine the etiology of the disease; however, the pattern of inheritance remains unknown. Autosomal dominant, X-linked and multifactorial patterns of inheritances have been reported. Other studies have suggested possible chromosome regions related to the etiology of idiopathic scoliosis. We report the genetic aspects of and investigate chromosome regions for adolescent idiopathic scoliosis in a Brazilian family. Methods Evaluation of 57 family members, distributed over 4 generations of a Brazilian family, with 9 carriers of adolescent idiopathic scoliosis. The proband presented a scoliotic curve of 75 degrees, as determined by the Cobb method. Genomic DNA from family members was genotyped. Results Locating a chromosome region linked to adolescent idiopathic scoliosis was not possible in the family studied. Conclusion While it was not possible to determine a chromosome region responsible for adolescent idiopathic scoliosis by investigation of genetic linkage using microsatellites markers during analysis of four generations of a Brazilian family with multiple affected members, analysis including other types of genomic variations, like single nucleotide polymorphisms (SNPs) could contribute to the continuity of this study.