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Adolescent idiopathic scoliosis (AIS) is a leading cause of pediatric structural spinal deformity, impacting up to 3-4% of adolescents globally. The lack of unifying mechanisms to explain its development and paucity of suitable animal or in-vitro study models have made it difficult to institute effective therapeutic approaches for AIS. Paraspinal muscles are crucial structures for mobility and stability of the spine, but their role in AIS is not clearly understood. Phenotypically, paraspinal muscle in AIS display myopathic features including fibrosis and fatty involution. However, the mechanism of development of paraspinal muscle phenotype and its contribution in AIS pathogenesis is not elucidated. This project aimed to understand the development of paraspinal muscle phenotype in patients with AIS via characterization of inflammatory phenotype, fibrosis and fatty involution, and autophagic machinery in paraspinal muscle. We demonstrated the presence of paraspinal muscle fibrosis and fatty involution on both concave and convex sides of the scoliotic curve. The potential crosstalk between TGF- family and mesenchymal progenitors expressing PDGFR- was identified and represent the crucial mechanism associated with development of muscle phenotype in AIS. We also demonstrated the upregulation of canonical TGF/Smad signaling pathways and Smad independent non-canonical TGFsignaling pathways including p38 and JNK (p46/54) MAPKs in paraspinal muscle on the concave versus convex side which may be associated with an enhanced fibrosis and fatty involution on the concave side in comparison to the convex side. Furthermore, the data suggest differential autophagy activation in paraspinal muscle in AIS with convex side demonstrating enhanced expression of autophagy markers in comparison to the concave side. The data also demonstrate that the Akt dependent inhibition of FoxO3A transcription factor could potentially lead to the suppression of expression of autophagy markers on the concave side in comparison to the convex side. The upregulation of fibrogenic and adipogenic pathways and suppression of expression of autophagy markers may associate with a more severe phenotype in paraspinal muscle on the concave side in comparison to the convex side. The assessment of muscle health in AIS opens therapeutic entry points to influence muscle phenotype in AIS which may impact the patient outcomes. / Thesis / Doctor of Philosophy (Medical Science)

Introdução: A síndrome de Williams-Beuren (SWB) consiste de uma deleção no cromossomo 7q11.23, região responsável pela codificação de 28 genes, estando o gene codificador da elastina situado aproximadamente no ponto médio dos extremos da deleção; a mutação no gene da elastina leva a alterações fenotípicas no paciente, com prejuízo do desenvolvimento neuropsicomotor de graus variados, fáscies características, anormalidades cardiovasculares, hipercalcemia, disfunções urológicas e osteoarticulares. O presente estudo avaliou a prevalência de escoliose em pacientes com diagnóstico de SWB, bem como sua relação com o padrão das curvas nos portadores de escoliose. Métodos: Foram incluídos 41 pacientes com diagnóstico de SWB através da realização de anamnese, exame físico e investigação radiográfica, sendo 25 do sexo masculino. Realizou-se a interpretação das radiografias e obtenção do ângulo de Cobb. Resultados: Observou-se que 14 pacientes eram portadores de escoliose, sendo 10 do sexo masculino. O padrão da deformidade apresentou-se, nos pacientes mais jovens, através de curvas simples e flexíveis, e, apesar de adultos apresentarem ocorrência de duplas curvas e triplas curvas, a análise estatística não evidenciou relação entre escoliose e idade ou sexo dos pacientes. Conclusões: O estudo evidenciou prevalência de escoliose em portadores de SWB: 34,1%; entretanto, as variáveis idade e sexo não apresentaram relação com a ocorrência de escoliose, assim como a gravidade das curvas apresentadas / Introduction: Williams-Beuren syndrome (WBS) consists of a chromosome 7q11.23 deletion in the region responsible for encoding 28 genes, with the elastin encoding gene situated approximately at the midpoint of the extremes of deletion; mutation of the elastin gene leads to phenotypic changes in patients with neurodevelopment impairment of varying degrees, characteristic facies, cardiovascular abnormalities, hypercalcemia, and urological and bone and joint dysfunctions. This study assessed the prevalence of scoliosis in patients with WBS, and the relationship with the pattern of scoliotic curves. Methods: A total of 41 patients diagnosed with SWB were included in the study, 25 males, through anamnesis, physical examination and radiographic investigation. Radiographic imaging was interpreted and the Cobb angle was calculated. Results: It was observed that 14 patients had scoliosis, and 10 of them were male. The pattern of the deformity in younger patients was of flexible and simple curves, and although adults presented double and triple curves, statistical analysis showed no relationship between scoliosis and age or sex. Conclusion: The study revealed a prevalence of scoliosis in patients with SWB of 34.1%; however, the variables age and sex had were not significantly associated with scoliosis, nor with the severity of the curves

Diss. (sammanfattning) Stockholm : Karol. inst., 2004. / Härtill 5 uppsatser.

Introdução: A síndrome de Williams-Beuren (SWB) consiste de uma deleção no cromossomo 7q11.23, região responsável pela codificação de 28 genes, estando o gene codificador da elastina situado aproximadamente no ponto médio dos extremos da deleção; a mutação no gene da elastina leva a alterações fenotípicas no paciente, com prejuízo do desenvolvimento neuropsicomotor de graus variados, fáscies características, anormalidades cardiovasculares, hipercalcemia, disfunções urológicas e osteoarticulares. O presente estudo avaliou a prevalência de escoliose em pacientes com diagnóstico de SWB, bem como sua relação com o padrão das curvas nos portadores de escoliose. Métodos: Foram incluídos 41 pacientes com diagnóstico de SWB através da realização de anamnese, exame físico e investigação radiográfica, sendo 25 do sexo masculino. Realizou-se a interpretação das radiografias e obtenção do ângulo de Cobb. Resultados: Observou-se que 14 pacientes eram portadores de escoliose, sendo 10 do sexo masculino. O padrão da deformidade apresentou-se, nos pacientes mais jovens, através de curvas simples e flexíveis, e, apesar de adultos apresentarem ocorrência de duplas curvas e triplas curvas, a análise estatística não evidenciou relação entre escoliose e idade ou sexo dos pacientes. Conclusões: O estudo evidenciou prevalência de escoliose em portadores de SWB: 34,1%; entretanto, as variáveis idade e sexo não apresentaram relação com a ocorrência de escoliose, assim como a gravidade das curvas apresentadas / Introduction: Williams-Beuren syndrome (WBS) consists of a chromosome 7q11.23 deletion in the region responsible for encoding 28 genes, with the elastin encoding gene situated approximately at the midpoint of the extremes of deletion; mutation of the elastin gene leads to phenotypic changes in patients with neurodevelopment impairment of varying degrees, characteristic facies, cardiovascular abnormalities, hypercalcemia, and urological and bone and joint dysfunctions. This study assessed the prevalence of scoliosis in patients with WBS, and the relationship with the pattern of scoliotic curves. Methods: A total of 41 patients diagnosed with SWB were included in the study, 25 males, through anamnesis, physical examination and radiographic investigation. Radiographic imaging was interpreted and the Cobb angle was calculated. Results: It was observed that 14 patients had scoliosis, and 10 of them were male. The pattern of the deformity in younger patients was of flexible and simple curves, and although adults presented double and triple curves, statistical analysis showed no relationship between scoliosis and age or sex. Conclusion: The study revealed a prevalence of scoliosis in patients with SWB of 34.1%; however, the variables age and sex had were not significantly associated with scoliosis, nor with the severity of the curves

Thesis (M.Tech.: Chiropractic)-Dept. of Chiropractic, Durban University of Technology, 2007 xi, 38 leaves, Annexures 1-2 / Background: Various congenital spinal anomalies are common findings in the general population. Their clinical significance is controversial with no definitive association been made between any specific congenital spinal anomaly to any clinical features. Project Design: This research study was designed in the form of a quantitative, non-experimental, empirical clinical survey. Method: Data was obtained from thoracic and lumbar spine radiographs contained in the Chiropractic Day Clinic at the Durban University of Technology from 1 January 1997 to 31 December 2005 and from the corresponding patient files. Through the research procedure, 519 thoracic and lumbar spine radiographs were located in the confines of the Chiropractic Day Clinic. Due to the exclusion criteria of a past or present history of trauma to the thoracic or lumbar spine areas, 147 radiographs were excluded. Objectives 1.To determine the period prevalence (1 January 1997 – 31 December 2005) of congenital thoracic and lumbar spine anomalies. 2.To determine if there is any association between the presenting clinical features and the congenital thoracic and lumbar spine anomalies in general. 3.To determine if there is any association between the presenting clinical features and individual congenital thoracic and lumbar spine anomalies. 4.To compare subjects presenting clinical features with reported clinical features from literature.

Bakgrund: Skolios är en åkomma som förekommer hos två till fyra procent av alla barn och ungdomar i en ålder på 10-20 år. Skolios innebär att personen har en snedställning av ryggraden som mäts och definieras med metoden cobb angle. Detta kan ge upphov till smärta men även andra typer av problem som exempelvis längre livskvalitet. Ungdomarna kan uppleva att det besvärar dem i deras vardag både fysiskt, psykiskt och socialt. Vid andra allmänna former av ryggproblem har studier påvisat goda resultat för minskad smärta vid fysisk aktivitet av bålen.   Syftet: med studien är att utvärdera om coreträning kan minska ryggsmärtor och cobb angle hos tonåringar med idiopatisk skolios.   Metod: Metoden som användes är en deskriptiv litteraturstudie. För att hitta relevanta studier användes databaserna pubmed och cinahl. Studiernas evidensgranskades utifrån ett granskningsprotokoll (GRADE).   Resultatet: inkluderade 14 artiklar som redovisades i fyra olika teman: Coreträning som reducerar smärta & cobb angle, Coreträning utan inverkan på smärta och cobb angle, muskelstyrka & träningskapacitet och samband mellan bålstabilitet & livskvalité. Resultatet påvisade lite delade meningar om huruvida coreträning kan hjälpa till att minska smärta och cobb angle. Merparten av artiklarna visade att specifikt utformad coreträning kan hjälpa till att reducera smärta och cobb angle, men däremot sågs ingen större skillnad mellan generella- och specifika träningsprogram på reducering av smärta och cobb angle.   Slutsats: I denna studie framkom samband mellan ökad bålstabilitet och minskad smärta/cobb angle. Detta kan tyda på att specificerad coreträning skulle kunna agera som behandling för att minska smärta och cobb angle hos tonåringar med idiopatisk skolios.

Cette étude a pour but de tester si l’ajout de variables biomécaniques, telles que celles associées à la morphologie, la posture et l’équilibre, permet d’améliorer l’efficacité à dissocier 29 sujets ayant une scoliose progressive de 45 sujets ayant une scoliose non progressive. Dans une étude rétrospective, un groupe d’apprentissage (Cobb: 27,1±10,6°) a été utilisé avec cinq modèles faisant intervenir des variables cliniques, morphologiques, posturales et d’équilibre et la progression de la scoliose. Un groupe test (Cobb: 14,2±8,3°) a ensuite servit à évaluer les modèles dans une étude prospective. Afin d’établir l’efficacité de l’ajout de variables biomécaniques, le modèle de Lonstein et Carlson (1984) a été utilisé à titre d’étalon de mesures. Le groupe d’apprentissage a été utilisé pour développer quatre modèles de classification. Le modèle sans réduction fut composé de 35 variables tirées de la littérature. Dans le modèle avec réduction, une ANCOVA a servit de méthode de réduction pour passer de 35 à 8 variables et l’analyse par composantes principales a été utilisée pour passer de 35 à 7 variables. Le modèle expert fut composé de huit variables sélectionnées d’après l’expérience clinque. L’analyse discriminante, la régression logistique et l’analyse par composantes principales ont été appliquées afin de classer les sujets comme progressifs ou non progressifs. La régression logistique utilisée avec le modèle sans réduction a présenté l’efficience la plus élevée (0,94), tandis que l’analyse discriminante utilisée avec le modèle expert a montré l’efficience la plus faible (0,87). Ces résultats montrent un lien direct entre un ensemble de paramètres cliniques et biomécaniques et la progression de la scoliose idiopathique. Le groupe test a été utilisé pour appliquer les modèles développés à partir du groupe d’apprentissage. L’efficience la plus élevée (0,89) fut obtenue en utilisant l’analyse discriminante et la régression logistique avec le modèle sans réduction, alors que la plus faible (0,78) fut obtenue en utilisant le modèle de Lonstein et Carlson (1984). Ces valeurs permettent d’avancer que l’ajout de variables biomécaniques aux données cliniques améliore l’efficacité de la dissociation entre des sujets scoliotiques progressifs et non progressifs. Afin de vérifier la précision des modèles, les aires sous les courbes ROC ont été calculées. L’aire sous la courbe ROC la plus importante (0,93) fut obtenue avec l’analyse discriminante utilisée avec le modèle sans réduction, tandis que la plus faible (0,63) fut obtenue avec le modèle de Lonstein et Carlson (1984). Le modèle de Lonstein et Carlson (1984) n’a pu séparer les cas positifs des cas négatifs avec autant de précision que les modèles biomécaniques. L’ajout de variables biomécaniques aux données cliniques a permit d’améliorer l’efficacité de la dissociation entre des sujets scoliotiques progressifs et non progressifs. Ces résultats permettent d’avancer qu’il existe d’autres facteurs que les paramètres cliniques pour identifier les patients à risque de progresser. Une approche basée sur plusieurs types de paramètres tient compte de la nature multifactorielle de la scoliose idiopathique et s’avère probablement mieux adaptée pour en prédire la progression. / The purpose of this study is to examine whether the addition of biomechanical variables, such as variables associated with morphology, posture and balance, produce an increase in dissociation efficiency of 29 subjects with progressive scoliosis from 45 subjects with non progressive scoliosis. In a retrospective study, a learning group (Cobb: 27,1±10,6°) was used with five models comprising clinical, morphological, postural and balance variables and scoliosis progression. A testing group (Cobb: 14,2±8,3°) was then used to evaluate the models in a prospective study. In order to establish the efficiency of the addition of biomechanical variables, Lonstein and Carlson’s (1984) model was used as a reference. The learning group was used to develop four classification models. The model without reduction was composed of 35 variables taken from the literature. In the model with reduction, an ANCOVA served as a reduction method to go from 35 to 8 variables and principal component analysis was used to go from 35 to 7 variables. The expert model was composed of eight variables selected according to clinical experience. Discriminant analysis, logistic regression and principal component analysis were applied in order to classify the subjects as progressive or non progressive. Logistic regression used with the model without reduction presented the highest efficiency (0,94), whereas discriminant analysis used with the expert model showed the lowest efficiency (0,87). These results show a direct relation between a group of clinical and biomechanical parameters and idiopathic scoliosis progression. The testing group was used to apply the models developed from the learning group. The highest efficiency (0,89) was obtained with the use of discriminant analysis and logistic regression and the model without reduction, as the lowest (0,78) was obtained with the use of Lonstein and Carlson’s (1984) model. These values suggest that the addition of biomechanical variables to clinical data increases dissociation efficiency between progressive and non progressive scoliotic subjects. In order to verify the precision of the models, the area under the ROC curve was calculated. The largest area under the ROC curve (0,93) was obtained with the discriminant analysis used with the model without reduction, whereas the lowest (0,63) was obtained with Lonstein and Carlson’s (1984) model. Lonstein and Carlson’s (1984) model could not separate the positive cases from the negative cases with the same amount of precision compared with the biomechanical models. The addition of biomechanical variables to clinical data allowed increasing dissociation efficiency between progressive and non progressive scoliotic subjects. These results suggest that factors other than clinical parameters can identify patients at risk of progression. An approach based on many types of parameters takes into account the multi-factorial nature of idiopathic scoliosis and appears to be better adapted to predict it’s progression.

Dissertation submitted in partial compliance with the requirements for the Master's Degree in Technology: Chiropractic, Durban University of Technology, 2007. / Background: Various congenital spinal anomalies are common findings in the general population. Their clinical significance is controversial with no definitive association been made between any specific congenital spinal anomaly to any clinical features. Project Design: This research study was designed in the form of a quantitative, non-experimental, empirical clinical survey. Method: Data was obtained from thoracic and lumbar spine radiographs contained in the Chiropractic Day Clinic at the Durban University of Technology from 1 January 1997 to 31 December 2005 and from the corresponding patient files. Through the research procedure, 519 thoracic and lumbar spine radiographs were located in the confines of the Chiropractic Day Clinic. Due to the exclusion criteria of a past or present history of trauma to the thoracic or lumbar spine areas, 147 radiographs were excluded. Objectives 1.To determine the period prevalence (1 January 1997 – 31 December 2005) of congenital thoracic and lumbar spine anomalies. 2.To determine if there is any association between the presenting clinical features and the congenital thoracic and lumbar spine anomalies in general. 3.To determine if there is any association between the presenting clinical features and individual congenital thoracic and lumbar spine anomalies. 4.To compare subjects presenting clinical features with reported clinical features from literature. / M

Des anomalies dans la morphologie pelvienne, la posture du tronc et le contrôle de l’équilibre de jeunes filles atteintes de scoliose idiopathique de l’adolescence (SIA) ont souvent été l’objet d’études. Rares sont celles ayant distingué ces troubles en fonction de la sévérité de la déformation vertébrale. De plus, aucune n’a évalué à l’intérieur d’une même étude l’orientation et la distorsion pelvienne, l’asymétrie posturale et l’instabilité en position debout de sujets SIA. Une telle étude permettrait de comprendre le développement de la maladie et de mettre en évidence des facteurs de risque aidant au pronostic. L’objectif général de cette thèse est d’identifier des facteurs biomécaniques associés à la croissance osseuse, la posture et l’équilibre distinguant une SIA modérée d’une sévère. Les positions 3D de 14 repères prises sur 46 filles ayant une SIA droite (modérée et sévère) et 28 sujets témoins ont été captées pour quantifier la morphologie pelvienne et la posture. Un maintien en position debout de 64 s sur une plate-forme de force a aussi été enregistré afin d’évaluer leur équilibre. Les paramètres retenus sont les angles d’orientation pelvienne et du tronc; les distances entre la crête iliaque et S1 mesurant la distorsion pelvienne; la moyenne, l’amplitude et la vitesse du centre de pression (COP) en médiolatéral (ML) et antéropostérieur ainsi que la moyenne et l’amplitude du moment libre. Les différences entre les trois groupes (témoin, SIA modérée et SIA sévère) sont testées par des ANOVA et les relations entre l’angle de Cobb et les paramètres pelviens, posturaux ou d’équilibre, par des coefficients de corrélations. De plus, des régressions multiples exprimant l’angle de Cobb sont effectuées avec les paramètres pelviens, posturaux et d’équilibre afin de déterminer la classe de paramètres prédisant le mieux l’angle de Cobb. Aucune ANOVA n’est significative pour l’orientation pelvienne, bien que des différences de géométrie pelvienne soient notées entre les deux groupes de sujets SIA. Les SIA modérées ont un pelvis gauche moins profond que les SIA sévères et les sujets témoins, tandis que les SIA sévères ont un pelvis droit plus large d’environ 1,5 cm que celui des SIA modérées. Un coefficient de corrélation de -0,54 associe une rotation pelvienne droite à l’augmentation de la largeur de la crête iliaque. Au niveau postural, les SIA sévères démontrent des inclinaisons latérales et antérieures du tronc ainsi qu’une rotation axiale du haut du corps plus marquées que les SIA modérées. Les corrélations entre les paramètres posturaux, l’angle de Cobb et la morphologie pelvienne indiquent que l’attitude posturale est associée à la distorsion pelvienne dans tous les plans anatomiques, tandis qu’elle ne l’est que dans les plans sagittal et horizontal à l’angle de Cobb. Les différences retrouvées entre les deux groupes SIA concernant les troubles d’équilibre résultent en une augmentation de l’amplitude et de la vitesse du COPML. Une régression multiple de 0,896 est observée par l’emploi des paramètres pelviens, posturaux et d’équilibre, bien que ceux se rapportant à la distorsion pelvienne soient les mieux corrélés à l’angle de Cobb. Cette thèse permet de distinguer la morphologie pelvienne de sujets SIA sévères des modérées, soulignant la détection d’une anomalie de croissance avant que l’angle de Cobb ne soit élevé. Bien que les indices de croissance pelvienne soient davantage corrélés à ce dernier, c’est en considérant globalement la morphologie pelvienne, la posture et l’équilibre qu’une détermination précise de la sévérité d’une scoliose est réalisée. La mise en évidence de tels facteurs de prédiction de la SIA peut faciliter le pronostic d’une courbure. / The effect of adolescent idiopathic scoliosis (AIS) on pelvis morphology, body posture and standing balance in young girls has been studied many times. However, only few studies have distinguished the effect associated with moderate AIS from a severe one. Moreover, no one ever assessed within one investigation pelvis orientation and distortions, postural asymmetry and standing imbalance in AIS subjects. This would help understanding the evolution of the disease and to shed light on risk factors that would facilitate the prognostic. The aim of this thesis is to identify biomechanical factors related to bone growth, posture and balance which can distinguish a moderate AIS from a severe one. The 3D coordinates position of 14 body landmarks taken on 46 young girls with right AIS (moderate and severe) curvature and 28 control subjects is captured to quantify pelvis morphology and body posture. An upright standing is recorded during 64 s on a force plate to assess standing balance. From these data, the following parameters are calculated: orientation angle in all 3 planes for pelvis and trunk; distances between S1 and iliac crest to evaluate pelvis distortion; mean position, range and velocity of the center of pressure (COP) in mediolateral (ML) and anteroposterior axis and mean and range of the free moment. Differences between groups (control, AIS moderate and AIS severe) are tested by ANOVA and relationship between Cobb angle and pelvis, postural and balance parameters are calculated by correlation coefficients. Multiple regressions expressing Cobb angle by pelvis, postural and balance parameters are also carried out to determine which class of parameters is able to predict more effectively the Cobb angle’s curvature. No significant ANOVA is found for pelvis orientation, even though differences in pelvis geometry are noticed between the two groups of AIS subjects. Moderate AIS have a left pelvis with a depth less than severe AIS, whereas AIS severe have a larger right pelvis of 1,5 cm than moderate AIS. A correlation coefficient of -0,54 relates a right pelvis rotation to an increase in iliac crest’s width. About postural asymmetries, severe AIS shows lateral and anterior trunk bending and an axial rotation in the upper level of the trunk that are more pronounced compared to moderate AIS. Correlations between postural parameters, Cobb angle and pelvis morphology indicate a relationship between posture and pelvis distortion in all three planes, but only in the sagittal and horizontal plane between posture and Cobb angle. Differences in standing balance between the two groups of AIS show an increase in COPML range and velocity. A multiple regression of 0,896 is found for the Cobb angle using pelvis, postural and balance parameters. Parameters related to pelvis distortion correlate the most with Cobb angle (0,70). This thesis was able to differentiate severe AIS pelvis morphology from those of the moderate one. Pelvis morphology allows detecting a growth abnormality before the Cobb angle becomes high. Even if pelvis growth is more correlated to the Cobb angle, considering globally pelvis morphology, posture and standing balance will allow determining precisely the severity of AIS. Shedding light on such factors during the evolution of the disease helps an AIS curvature prognosis.