Introdução: As distrofias de cinturas representam um grupo de miopatias progressivas, geneticamente determinadas, envolvendo 16 formas de herança autossômica recessiva e oito dominantes, sendo as formas recessivas mais comuns, particularmente em crianças. Caracterizam-se por fraqueza muscular progressiva de predomínio proximal em cinturas escapular e pélvica, existindo desde formas graves de início na infância a formas leves de início em adultos. A biópsia muscular, com estudo histológico e imunoistoquímico, é fundamental para o diagnóstico, porém o exame molecular é o teste padrão ouro para o diagnóstico de certeza. Objetivos: Determinar a freqüência dos diferentes subtipos de distrofia de cinturas em crianças na nossa população, descrevendo os aspectos clínicos, histológicos e moleculares. Resultados: Fizeram parte deste estudo 39 crianças provenientes do ambulatório de doenças neuromusculares do HC-FMUSP, sendo a proporção entre o sexo feminino e masculino de 3:1. A idade de início da doença variou de dois a 13 anos, com média de 7,5 anos. Os sinais e sintomas na apresentação clínica incluíram: quedas frequentes (22 casos), dificuldades em subir escadas (13 casos), marcha digitigrada (2 casos) e dificuldades para se levantar do chão (2 casos). Os níveis de CK foram elevados em todos os pacientes, sendo maiores naqueles com diferlinopatia e algumas formas de sarcoglicanopatias. Dentre os 39 pacientes, 37 foram classificados como LGMD. Destes, 15 (40,5%) receberam o diagnóstico de sarcoglicanopatia (LGMD2C-F), cinco (13,5%) de disferlinopatia (LGMD2B), cinco (13,5%) de calpainopatia, dois (5,5%) de LGMD1B, dois (5,5%) de LGMD2I, um (2,5%) de caveolinopatia (LGMD1A), e em sete (19%) não foi possível identificar o subtipo específico. A biópsia muscular mostrou um padrão distrófico em todos os casos, sendo mais acentuado nas sarcoglicanopatias e na LGMD2I. A presença de inflamação foi incomum na LGMD2B, e a presença de fibras lobuladas foi um achado marcante na LGMD2A. Conclusões: O diagnóstico do subtipo específico de LGMD em crianças é um desafio. Este estudo em crianças brasileiras provenientes de um centro de doenças neuromusculares de um grande hospital da rede pública mostrou alta frequência de sarcoglicanopatias, seguida por LGMD2A e LGMD2B. Já a LGMD2I parece ser incomum no Brasil / Background: Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetic muscular dystrophies, involving 16 autosomal recessive subtypes and eight autosomal dominant subtypes. Autosomal recessive dystrophy is far more common than autosomal dominant dystrophy, particularly in children. The clinical course in this group is characterized by progressive proximal weakness, initially in pelvic and after in shoulder-girdle musculature, varying from very mild to severe degree. Significant overlap of clinical phenotypes, with genetic and clinical heterogeneity, constitutes the rule for this group of diseases. Muscle biopsies are useful for histopathologic and immunolabeling studies, and DNA analysis is the gold standard to establish the specific form of muscular dystrophy. Objectives: The aim of this study was to characterize the clinical, histological and molecular aspects in children with LGMD who attend a big public neuromuscular centre in our country to determine the frequency of different forms. Results: Thirty seven patients were classified as LGMD and included in this analysis. The study period extended from 2009-2012. The female to male ratio was 3:1. The age of onset ranged from two to 13 years, mean 7,5 years. Onset in the first decade was seen in 90%. The initial clinical signs included: frequent falls (22 cases), difficulty in climbing stairs (13 cases), walk on tip toes (2 cases), difficulty in rising from the floor (2 cases) and difficulty on walking (1 case). The serum CK levels were high in all cases. Among the 37 patients, 15 (40,5%) were classified as sarcoglycanopathies (LGMD2C-F), five (13,5%) as dysferlinopathy (LGMD2B), five (13,5%) as calpainopathy (LGMD2A). Mutations in LMNA gene (LGMD1B), FKRP gene (LGMDI) and caveolin gene (LGMD 1C) were identified in two (5,5%), two (5,5%) and one patient (2,5%), respectively. In seven of 37 cases (19%) it was impossible to determine specific diagnosis. Calf hypertrophy, scapular winging and scoliosis were the most characteristic signs in sarcoglycanopathies. In LGMD2I calf hypertrophy is also observed. Atrophy of posterior compartment of thighs is frequent in children with LGMD2B and could suggest the diagnosis. In LGMD2A winging of scapulae and contractures in Achilles tendons were important findings. Muscle biopsy showed a dystrophic pattern in all cases, more intense in sarcoglycanopathies and LGMD2I. Differently from adult\'s patients, inflammation changes in dysferlinopaties were uncommon. Lobuled fibers were characteristic changes in calpainopathies in children. Conclusions: A definitive diagnosis among various subtypes of LGMD in children is challenging. Our series was a large study on LGMD in Brazilian children and showed high frequency of sarcoglycanopathies followed by LGMD2A, LGMD2B, LGMD2I, LGMD1B and LGMD1C

Introdução: As distrofias de cinturas representam um grupo de miopatias progressivas, geneticamente determinadas, envolvendo 16 formas de herança autossômica recessiva e oito dominantes, sendo as formas recessivas mais comuns, particularmente em crianças. Caracterizam-se por fraqueza muscular progressiva de predomínio proximal em cinturas escapular e pélvica, existindo desde formas graves de início na infância a formas leves de início em adultos. A biópsia muscular, com estudo histológico e imunoistoquímico, é fundamental para o diagnóstico, porém o exame molecular é o teste padrão ouro para o diagnóstico de certeza. Objetivos: Determinar a freqüência dos diferentes subtipos de distrofia de cinturas em crianças na nossa população, descrevendo os aspectos clínicos, histológicos e moleculares. Resultados: Fizeram parte deste estudo 39 crianças provenientes do ambulatório de doenças neuromusculares do HC-FMUSP, sendo a proporção entre o sexo feminino e masculino de 3:1. A idade de início da doença variou de dois a 13 anos, com média de 7,5 anos. Os sinais e sintomas na apresentação clínica incluíram: quedas frequentes (22 casos), dificuldades em subir escadas (13 casos), marcha digitigrada (2 casos) e dificuldades para se levantar do chão (2 casos). Os níveis de CK foram elevados em todos os pacientes, sendo maiores naqueles com diferlinopatia e algumas formas de sarcoglicanopatias. Dentre os 39 pacientes, 37 foram classificados como LGMD. Destes, 15 (40,5%) receberam o diagnóstico de sarcoglicanopatia (LGMD2C-F), cinco (13,5%) de disferlinopatia (LGMD2B), cinco (13,5%) de calpainopatia, dois (5,5%) de LGMD1B, dois (5,5%) de LGMD2I, um (2,5%) de caveolinopatia (LGMD1A), e em sete (19%) não foi possível identificar o subtipo específico. A biópsia muscular mostrou um padrão distrófico em todos os casos, sendo mais acentuado nas sarcoglicanopatias e na LGMD2I. A presença de inflamação foi incomum na LGMD2B, e a presença de fibras lobuladas foi um achado marcante na LGMD2A. Conclusões: O diagnóstico do subtipo específico de LGMD em crianças é um desafio. Este estudo em crianças brasileiras provenientes de um centro de doenças neuromusculares de um grande hospital da rede pública mostrou alta frequência de sarcoglicanopatias, seguida por LGMD2A e LGMD2B. Já a LGMD2I parece ser incomum no Brasil / Background: Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetic muscular dystrophies, involving 16 autosomal recessive subtypes and eight autosomal dominant subtypes. Autosomal recessive dystrophy is far more common than autosomal dominant dystrophy, particularly in children. The clinical course in this group is characterized by progressive proximal weakness, initially in pelvic and after in shoulder-girdle musculature, varying from very mild to severe degree. Significant overlap of clinical phenotypes, with genetic and clinical heterogeneity, constitutes the rule for this group of diseases. Muscle biopsies are useful for histopathologic and immunolabeling studies, and DNA analysis is the gold standard to establish the specific form of muscular dystrophy. Objectives: The aim of this study was to characterize the clinical, histological and molecular aspects in children with LGMD who attend a big public neuromuscular centre in our country to determine the frequency of different forms. Results: Thirty seven patients were classified as LGMD and included in this analysis. The study period extended from 2009-2012. The female to male ratio was 3:1. The age of onset ranged from two to 13 years, mean 7,5 years. Onset in the first decade was seen in 90%. The initial clinical signs included: frequent falls (22 cases), difficulty in climbing stairs (13 cases), walk on tip toes (2 cases), difficulty in rising from the floor (2 cases) and difficulty on walking (1 case). The serum CK levels were high in all cases. Among the 37 patients, 15 (40,5%) were classified as sarcoglycanopathies (LGMD2C-F), five (13,5%) as dysferlinopathy (LGMD2B), five (13,5%) as calpainopathy (LGMD2A). Mutations in LMNA gene (LGMD1B), FKRP gene (LGMDI) and caveolin gene (LGMD 1C) were identified in two (5,5%), two (5,5%) and one patient (2,5%), respectively. In seven of 37 cases (19%) it was impossible to determine specific diagnosis. Calf hypertrophy, scapular winging and scoliosis were the most characteristic signs in sarcoglycanopathies. In LGMD2I calf hypertrophy is also observed. Atrophy of posterior compartment of thighs is frequent in children with LGMD2B and could suggest the diagnosis. In LGMD2A winging of scapulae and contractures in Achilles tendons were important findings. Muscle biopsy showed a dystrophic pattern in all cases, more intense in sarcoglycanopathies and LGMD2I. Differently from adult\'s patients, inflammation changes in dysferlinopaties were uncommon. Lobuled fibers were characteristic changes in calpainopathies in children. Conclusions: A definitive diagnosis among various subtypes of LGMD in children is challenging. Our series was a large study on LGMD in Brazilian children and showed high frequency of sarcoglycanopathies followed by LGMD2A, LGMD2B, LGMD2I, LGMD1B and LGMD1C

Introdução: As distrofias musculares de cinturas (limb-girdle muscular dystrophies - LGMD) são causadas por mutações em uma grande variedade de genes que codificam proteínas musculares, podendo ser herdadas de forma autossômica dominante ou recessiva. O diagnóstico é feito tanto através de exame de biópsia muscular que mostra um padrão histológico distrófico ao lado de deficiência específica de proteínas musculares quanto por estudo genético. Em alguns subtipos de LGMD não é possível fazer o diagnóstico específico pela biópsia muscular, tais como na deficiência da calpaína-3 (CAPN3) e da proteína relacionada a fukutina (FKRP). Nestes casos, portanto, o exame molecular é de grande valor para a confirmação do diagnóstico. Objetivos: Analisar os genes CAPN3 e FKRP em pacientes com diagnóstico histológico de LGMD e verificar a expressão proteica da CAPN3 nesses pacientes, correlacionando com as mutações identificadas e com o quadro clínico e histológico dos mesmos. Resultados: Fizeram parte deste estudo 36 pacientes com LGMD provenientes do ambulatório de miopatias do HC-FMUSP em que a biópsia muscular não identificou deficiência de distrofina, disferlina, caveolina-3 e sarcoglicanas. Destes, nove (25%) foram diagnosticados com LGMD2A, seis (17%) com LGMD2I e em 21 (58%) não foi possível identificar o subtipo específico. Foram encontradas mutações patogênicas no gene CAPN3 em oito pacientes, sendo em homozigose em dois casos, heterozigose composta em cinco casos e em heterozigose em um caso. Em um caso o diagnóstico de LGMD2A foi realizado baseado apenas na análise da expressão da proteína CAPN3 no tecido muscular. Em seis pacientes foram identificadas mutações patogênicas no FKRP, sendo em homozigose em cinco casos e em heterozigose em um caso. A maioria dos pacientes com LGMD2I (cinco casos) apresentava a mutação c.826C > A. Foi observada ausência total ou parcial da expressão da CAPN3 em pacientes com LGMD2A. Conclusões: O presente estudo mostrou que mutações nos genes CAPN3 e FKRP são frequentes em pacientes com diagnóstico clínico e histológico de LGMD. A análise da expressão da CAPN3 se mostrou como uma importante ferramenta no diagnóstico da LGMD2A / Introduction: The Limb-Girdle Muscular Dystrophies (LGMD) are caused by mutations on a wide variety of genes that encode muscular proteins which can be inherited in dominant or recessive autosomal forms. The diagnosis is made either by genetic study or by muscle biopsy which shows a dystrophic histologic pattern with specific deficiency of muscular proteins. On some LGMD subtypes such as calpain-3 (CAPN3) and fukutin related protein (FKRP) deficiencies it is not possible to make a specific diagnosis by muscle biopsy. In these cases, the molecular exam is of great value to confirm the diagnosis. Objectives: Analyze the CAPN3 and FKRP genes in patients with histological diagnoses of LGMD, and verify the protein expression of CAPN3 on these patients correlating it with the identified mutations and their clinical and histological pattern. Results: Thirty-six patients with LGMD, where the muscular biopsy did not identify deficiency of dystrophin, dysferlin, caveolin-3 and sarcoglycans, from the Muscle Ambulatory of HC-FMUSP took part in this study. Of these, nine (25%) were diagnosed with LGMD2A, six (17%) with LGMD2I, and on 21 of them (58%), it was not possible to identify the specific subtype. Pathogenic mutations on CAPN3 were found in eight patients, being homozygous in two cases, compound heterozygous in five cases and heterozygous in one case. The diagnosis of LGMD2A in one patient was done based exclusively by CAPN3 protein analysis on the muscle tissue. Pathogenic mutations on FKRP were found in six patients, being homozygous in five cases and heterozygous in one case. Most of the patients with LGMD2I (five cases) presented the mutation c.826C > A. It was observed total or partial absence of the CAPN3 expression in patients with LGMD2A. Conclusions: The study showed that mutations on CAPN3 and FKRP are frequent in patients with clinical and histological diagnosis of LGMD. The CAPN3 expression analysis proved as an important tool in the LGMD2A diagnosis

Advanced devices that can assist the therapists to offer rehabilitation are in high demand with the growing rehabilitation needs. The primary requirement from such rehabilitative devices is to reduce the therapist monitoring time. If the training device can autonomously adapt to the performance of the user, it can make the rehabilitation partly self-manageable. Therefore the main goal of our research is to investigate how to make a rehabilitation system more adaptable. The strategy we followed to augment the adaptability of the GENTLE/A robotic system was to (i) identify the parameters that inform about the contribution of the user/robot during a human-robot interaction session and (ii) use these parameters as performance indicators to adapt the system. Three main studies were conducted with healthy participants during the course of this PhD. The first study identified that the difference between the position coordinates recorded by the robot and the reference trajectory position coordinates indicated the leading/lagging status of the user with respect to the robot. Using the leadlag model we proposed two strategies to enhance the adaptability of the system. The first adaptability strategy tuned the performance time to suit the user’s requirements (second study). The second adaptability strategy tuned the task difficulty level based on the user’s leading or lagging status (third study). In summary the research undertaken during this PhD successfully enhanced the adaptability of the GENTLE/A system. The adaptability strategies evaluated were designed to suit various stages of recovery. Apart from potential use for remote assessment of patients, the work presented in this thesis is applicable in many areas of human-robot interaction research where a robot and human are involved in physical interaction.

Thesis (M Sport Sc)--Stellenbosch University, 2012. / ENGLISH ABSTRACT: Limited data exists on a transition process of minimalist shoe running, warranting longitudinally designed studies. The primary aim of this study was thus to determine whether lower limb kinematics can be adapted, whether vertical average loading rate (VALR) can be attenuated, and whether lower limb joint moments can be altered by either novice or short-term (seven-week) minimalist shoe training. Ten experimental (EXP) habitually shod male endurance runners (age 24.10 ± 1.74; weekly training mileage 29.36 ± 8.51 km; BMI: 22.83 ± 8.55 kg/m2) volunteered to participate in a seven-week minimalist shoe transition programme. Eleven age and training matched control participants (CONT) (age 24.00 ± 2.18; weekly training mileage 24.90 ± 3.30 km; BMI: 23.78 ± 6.12) continued to run in their usual running shoes during the intervention period. All participants were provided with a pair of Vibram Fivefingers ® (VF). The VF intervention started at ~ 11% to 22% and ended at ~ 52% to 132% of the participants‘ usual shod training distance, determined by subjective lower limb comfort ratings. Lower limb biomechanics for barefoot: BF, minimalist: VF, and shod: SH were recorded with an eight-camera Vicon ® motion capture system, synchronized with a Bertec ® force plate, both prior to and after the transition programme. Twelve running trials at self-selected speeds were recorded bilaterally for each shoe condition. An inverse dynamic approach was used to calculate lower extremity joint moments. Primary parameters of interest were kinematic: step frequency (steps/min), step length (m), footstrike angles (FSA, degrees), strike index (SI,%); average vertical loading rate (VALR, BW/S) and sagittal and frontal plane peak joint moments (Nm/kg.m) of the ankle, knee and hip. At pre-testing, the results showed that for VALR, VF running was significantly higher than SH running but significantly lower than BF running (P < 0.05). Statistically significant shorter step lengths, higher step frequencies, greater plantar-flexion FSA, higher strike index, greater knee flexion FSA, and greater ankle inversion FSA were seen in BF and VF conditions compared to SH (P < 0.05). Statistically higher plantarflexion moment peak (PFM) while lower ankle dorsiflexion moment peak (DFM) and knee abduction moment peak (KAM) was found while BF and VF than SH running. The only statistically significant effect of the VF training intervention on kinematics was that of higher step frequency for the SH condition (P < 0.05), and greater inversion FSA in the BF condition. A trend was seen for the EXP group to increase VALR (P > 0.05). Ankle PFM peak significantly increased, while knee extensor moment peak (KEM) peak significantly decreased for the EXP group only (P < 0.05). Contrary to the initial hypothesis, novice or short-term VF training did not result in significantly attenuated VALR. However, alterations in joint moments suggest a shift in the distribution of external loads due to the VF training. Insufficient kinematic adaptation with VF training could be attributed to inability to sense higher VALR or due to greater perceived ratings of calf-Achilles discomfort, and may indicate that more than seven-weeks are required to transition and adapt to VF running. / AFRIKAANSE OPSOMMING: Beperkte data is beskikbaar oor die oorgangs fase van hardloop met minimalistiese skoene, langtermyn studies is dus nodig. Die primêre doel van die studie is om te bepaal of gemiddelde vertikale ladingstempo (VALR) verminder kan word en onderste-ledemaat gewrigsmomente aangepas kan word deur ‗n korttermyn oefenprogram in minimalistiese skoene. Tien experimentaal (EXP) manlike uithouvermoë hardlopers (ouderdom 24.10 ± 1.74; weeklikse oefen afstand 29.36 ± 8.51; BMI: 22.83 ± 8.55) wat gewoonlik in skoene hardloop het vrywillig ingestem om aan die sewe week minimalistiese-skoen oorgangsprogram deel te neem. Elf kontrole deelnemers wat gepas is volgens ouderdom en oefening, (ouderdom 24.00 ± 2.18; weeklikse oefening 24.90 ± 3.30 km; BMI: 23.78 ± 6.12 kg/m2) het in hulle gewone oefenskoene bly hardloop. Alle deelnemers het ‗n paar Vibram Fivefingers ®-skoene ontvang. Die VF intervensie het begin met ~ 11% tot 22% en geeinde met ~ 52% tot 132% van die deelnemers gewone afstande in SH. Biomeganiese aspekte van die onderste ledemate vir kaalvoet: BF, minimalisties: VF, en skoene: SH is deur middel van ‗n agt-kamera Vicon ® bewegingsisteem gesinkroniseer met ‗n Bertec ® kragplatform, voor en na die oorgangsprogram bepaal. Twaalf hardloop-pogings teen ‘n self-bepaalde spoed is bilateraal vir elke skoenkondisie gemeet. ‗n Omgekeerde dinamiese benadering is gebruik om die gewrigsmomente van die onderste ledemate te bepaal. Die primêre parameters van belang was kinematies: treefrekwensie, treelengte, voettrefhoeke (FSA), tree-indeks (SI); gemiddelde vertikale ladingstempo (VALR), en sagittale en frontale vlak piek gewrigsmomente van die enkel, knie en heup. By voor-toetsing, die resultate toon aan dat vir VALR, VF-hardloop betekenisvol hoër was in vergelyking met SH-hardloop, maar betekenisvol laer was in vergelyking met BF-hardloop (P < 0.05). Statisties beduidende korter tree, hoër treefrekwnesie, meer plantaarfleksie FSA, hoer ―strike index‖, meer kniefleksie FSA, en meer enkel inversie FSA is gevind in die BF en VF kondisie in vergelyking met SH (P < 0.05). Statistiese betekenisvol hoër plantaarfleksiemoment pieke (PFM), en minder enkel dorsiefleksiemoment pieke (DFM) en knie abduksiemoment pieke (KAD) was gevind by BF- en VF- hardloop in vergelyking met SH-hardloop (P < 0.05) Die enigste statistiese betekenisvolle verskil in die kinematika van die VF intervensie was ‗n hoër tree frekwensie vir die SH kondisie (P < 0.05), en groter enkel inversie FSA in die BF kondisie. Die EXP groep neig om ‗n verhoging in VALR te hê (P > 0.05). ‗n Aansienlike verhoging is gevind in piek enkel PFM, terwyl piek knie KEM statisties wesenlik verlaag het in die EXP groep (P < 0.05). In teenstelling met die oorspronklike hipotese het onmiddellike en 'n korttermyn VF oefenprogram nie 'n bekenisvolle effek op VALR vermindering nie. Sommige veranderings in gewrigsmomente suggereer dat 'n verplasing in die verspreiding van eksterne ladings plaasvind as gevolg van die VF oefening. Die onvoldoende kinematiese aanpassing kan moontlik toegeskryf word aan die onvermoë om hoër VALR waar te neem, of as gevolg van die hoër waargenome lesings in kuit-Achilles ongemak. Dit kan aandui da 'n VF oorgang proses van meer as sewe weke vereis word om aan te pas aan.

Pour comprendre et diagnostiquer les pathologies qui affectent l’organisation spatialede notre squelette, il est essentiel d’aborder ces problématiques en 3D. Le CT-Scan et l’IRMsont des modalités d’imagerie couramment utilisées en milieu clinique pour étudier en 3D notresystème musculosquelettique. La plupart de ces systèmes d’imagerie proposent une acquisitioncouchée sur laquelle les effets gravitaires ne sont pas pris en compte. Le CT-Scan est unemodalité particulièrement irradiante et l’IRM est plus spécifiquement dédiée à l’étude des tissusmous. Le système EOS permet de reconstruire en 3D les os à partir d’une paire deradiographies biplanes à faible dose d’irradiation. En plus, le système EOS propose uneacquisition en position debout, prenant en compte les effets gravitaires. Cette thèse contribue àl’amélioration des méthodes de reconstruction 3D des membres inférieurs à partir des radiosbiplanes. Dans le cadre de thèse on a proposé et évalué : 1) Une méthode de reconstruction3D des membres inférieurs s’appuyant sur des modèles paramétrés et des inférencesstatistiques. 2) Une méthode d’auto-amélioration de la reconstruction 3D des membresinférieurs en utilisant du traitement d’images local et le recalcul d’inférences statistiques. 3)Enfin, des méthodes utilisant des critères de similarité d’images et des critères morphologiquespour détecter de manière automatique le côté médial et latéral du fémur et du tibia. Le but estd’éviter l’inversion par l’opérateur de condyles fémoraux et plateaux tibiaux, affectant la valeurdes paramètres cliniques, surtout les torsions. La méthode de reconstruction proposée dans lecadre de cette thèse est intégrée dans le logiciel sterEOS® et utilisée dans une soixantained’hôpitaux au monde. Les méthodes développées dans le cadre de cette thèse ont permis deprogresser vers la reconstruction semi-automatisée, précise et robuste du membre inférieur / For a better understanding and diagnosis of the pathologies affecting the spatialorganization of our skeleton it is necessary to address them in 3D. CT-Scan and MRI areimaging modalities commonly used to study the musculoskeletal system in 3D. Moreover,patients are recorded in reclining position thus gravity effect can’t be taken into account.Furthermore, CT-Scan exposes patient to high radiation doses and MRI is used mostly tocharacterize soft tissues. With the EOS system, from a pair of low dose biplanar radiographs wecan reconstruct bones in 3D, and the radiographs are recorded in standing position thus gravityeffects are considered. This thesis contributes to the improvement of the 3D reconstructionmethods of lower limbs from biplanar radiographs. In this thesis we have proposed andevaluated: 1) A 3D reconstruction method of the lower limbs based on parametric models andstatistical inferences. 2) A method for the auto-improvement of the 3D reconstruction of thelower limbs. This method combines image processing and the recalculation of the statisticalinferences. 3) Finally, methods based on similarity measures and shape criteria were used todetect automatically the medial and lateral side of the femur and tibia. The aim of thesemethods is to avoid the inversion of the femoral and tibial condyles in biplanar radiographs.These inversions have an impact in the calculation of clinical measurements, particularly thetorsional ones. The reconstruction method proposed in this thesis is already integrated withinthe sterEOS® software, available in 60 hospitals around the world. The methods developed inthis thesis have led us to a semi-automatic, accurate and robust reconstruction of lower limbs.

This thesis deals with the current state of development of active lower limb prostheses and focuses mainly on own design of active prostheses. The introduction deals with the anatomy of lower limb and briefly describes the walk cycle. In other chapters are summarized amputation techniques in the lower limb, followed by a description of the allocation of prostheses according to the level of amputation, which were described in earlier chapters. The thesis also deals with the division of prostheses according to the patient's activity level and briefly describes the structural differences in these individual cases. Chapter describing the actual development in the field of active prostheses initiates part dealing with the detailed description of the part of the prosthesis. The following chapters deal with the design and implementation of a prototype of active transfemoral prosthesis. The penultimate chapter deals with the software description of all parts of the prosthesis. This chapter is followed by an evaluation of the achieved results.

Trotz der zunehmenden Bedeutung von freien Lappenplastiken stellen gefäßgestielte Suralis-Lappenplastiken weiterhin eine zuverlässige Methode zur Defektdeckung an der unteren Extremität dar. In der Arbeit werden 19 Fälle untersucht, bei denen eine Suralis-Lappenplastik durchgeführt wurde. Die Patientenzufriedenheit wird anhand funktioneller und ästhetischer Gesichtspunkte mittels eines standardisierten Fragebogens erfasst. Aus der ärztlichen Dokumentation werden notwendige Revisionseingriffe, stationäre und ambulante Behandlungszeiten, Nebenerkrankungen und die Erlössituation im DRG-System ausgewertet. Zudem wird im Rahmen einer anatomischen Studie an einem Leichenpräparat ein Suralis-Lappen gehoben und eine Fotodokumentation angefertigt.:1. Einleitung 2. Grundlagen 3. Material und Methoden 4. Ergebnisse 5. Diskussion 6. Zusammenfassung 7. Literaturverzeichnis 8. Anhang / Although the increasing meaning of free flaps the pedicled sural flap is a save method of covering defect wounds on lower limbs. In this report 19 cases of sural flap coverage are examined. The level of satisfaction of patients is measured by functional and aesthetic aspects using a standardised survey. Number of necessary revision operations, time of treatment, side diseases, and DRG based profit is determinded by the medical documentation. Furthermore an anatomic study is done showing the surgical raising of a sural flap.:1. Einleitung 2. Grundlagen 3. Material und Methoden 4. Ergebnisse 5. Diskussion 6. Zusammenfassung 7. Literaturverzeichnis 8. Anhang

Prosthesis treatment requires the close interaction of different actors. In fitting prostheses to patients, special attention is given to the manufacturing of the socket. The continuous development of the technologies involved in the fitting and optimization of prostheses is shown in the literature. The assessment of orthopedic technicians and their influence in the process is thus far largely unexplored. Ten orthopedic technicians were interviewed about the socket fitting process after transfemoral amputation. The research goal was to clarify the socket treatment process with regards to the German context. The results showed that the orthopedic technicians focussing on the patient during the fitting process. This study underlines the importance of interaction and empathy. Volume fluctuations are decisive within the treatment process and are interactively influenced by various factors. Furthermore, the research emphasizes the need for appropriate assistive technologies and the potential for the further development of existing systems.

Purpose: To evaluate the use of the GoBack-catheter (Upstream Peripheral Technologies) in complex revascularizations in lower limb arteries. Materials and Methods: In this retrospective single-center study, the results of the first 100 consecutive patients including 101 limb-revascularizations, performed between May 2018 and July 2020 with the study device, were analyzed. In all cases, guidewire-crossing failed, and all lesions were chronic total occlusions (CTO), either de novo, reocclusions, or in-stent reocclusions. Successful crossing was defined as passing the CTO using the study device. Patency at discharge and after 30 days was defined as less than 50% restenosis on duplex sonography, without target lesion revascularization. Results: Median lesion length was 24 cm and 38 patients (37.6%) had a calcium grading according to the peripheral arterial calcium scoring system (PACSS) of 4 or 5. In 20.8% of patients, an occluded stent was treated. CTOs involved the femoropopliteal segment in 91.1%, iliac arteries in 5.9%, and tibial arteries in 7.9%. The GoBackcatheter was employed for entering into or crossing through parts or the full length of a CTO or an occluded stent as well as for re-entering into the true lumen after subintimal crossing. The device was used via contralateral and ipsilateral antegrade as well as retrograde access with an overall technical success rate of 92.1%. In 3 patients minor bleeding occurred at the crossing or re-entry site, which were managed conservatively. Thirty-day adverse limb events comprised minor amputations in 4 patients (4.0%), 1 major amputation (1.0%), and reocclusions in 7 limbs (6.9%). Conclusion: The new GoBack-catheter offers versatile endovascular applicability for complex CTO recanalization in a broad range of peripheral vascular interventions with a high technical success and low complication rate.