As zonas costeiras estão em constante processo de pressão, tanto pela ação humana, que acaba rompendo o equilíbrio dominante, como pela ação da natureza, que está ligada principalmente a fatores geológicos, fatores climáticos e à dinâmica costeira. Neste trabalho buscou-se analisar a evolução do processo de ocupação urbana na faixa oceânica no município de Santa Vitória do Palmar, nos balneários do Hermenegildo e da Barra do Chuí, devido ao fato de esse local apresentar problemas em seu processo de urbanização, que se configuram pela falta de planejamento e de ordenamento territorial. Para essa análise, utilizou-se produtos de sensoriamento remoto em escala multitemporal, com perspectivas temporais em que se pode trabalhar e entender as rupturas de paradigmas em diferentes momentos históricos. Para isso, foram feitas análises em um levantamento aerofotogramétrico, adquirido pelo Exército Brasileiro, na Escala 1:75.000 do ano de 1964, análises em Imagens de Satélite Landsat TM7, do ano de 1996 e Imagens de Satélite QuickBird do ano de 2010. Portanto, esse trabalho propôs uma análise em escala multitemporal no processo de urbanização dos balneários do Hermenegildo e da Barra do Chuí, para um melhor entendimento do porquê dos problemas com as construções residenciais na faixa frontal ao Oceano Atlântico, que tem levando muitos moradores a perda total de suas residências. Verificou-se que a evolução dos percentuais de ocupação urbana nos balneários do Hermenegildo e da Barra do Chuí foi bastante significativa, sendo o que os dois balneários apresentaram crescimento mais elevado nas três primeiras décadas analisadas e ainda concluiu-se que no último intervalo da análise os índices de crescimento urbano foram menores para os dois balneários, recomendando-se maiores estudos e monitoramento dos vetores de crescimento urbano para ambos os balneários, com maior atenção para o balneário do Hermenegildo, devido ao grave problema de erosão costeira. / Coastal zones are constantly affected by the pressure process, caused by the human action, which ends up breaking the dominant balance, as well as by the action of the nature, which is mainly related to geologic and climatic factors and to the coastal dynamic. This study aims to analyze the urban occupation evolution process along Santa Vitória do Palmar coastline, especially Balneário do Hermenegildo and Balneário da Barra do Chuí, considering the fact that this specific territory presents lots of problems concerning its urbanization process. For this analysis, images captured by remote sensing were used in a multitemporal scale, trough time perspectives that enable this study to develop and understand the paradigmatic ruptures in different historical periods. In order to do so, different types of images were analyzed, such as the aerial photogrammetric survey, taken by the Brazilian Army, in the 1:75.000 scale of 1964, TM7 Landsat Satellite Images, taken in 1996, and QuickBird Satellite Images, taken in 2010. Therefore, this study promoted an analysis in a multitemporal scale of the urbanization process regarding the territory already mentioned, in order to discover the causes of the problems involving residential constructions located on the frontal area of the Atlantic Ocean, which might be the reason why the residents are totally losing their residences. It was found that the development of the urban occupation percentage in Balneário do Hermenegildo and Balneário da Barra do Chuí was very significant, based upon the fact that both beaches present a notorious increase on the first three analyzed decades and, beyond that, it was concluded that during the last interval of the analysis, the urban growth indices were lower for both, suggesting that this field demands more studies and monitoring of the urban growth vectors for both beaches, attaching particular attention to Balneário do Hermenegildo because of its severe coastal erosion problem.

As zonas costeiras estão em constante processo de pressão, tanto pela ação humana, que acaba rompendo o equilíbrio dominante, como pela ação da natureza, que está ligada principalmente a fatores geológicos, fatores climáticos e à dinâmica costeira. Neste trabalho buscou-se analisar a evolução do processo de ocupação urbana na faixa oceânica no município de Santa Vitória do Palmar, nos balneários do Hermenegildo e da Barra do Chuí, devido ao fato de esse local apresentar problemas em seu processo de urbanização, que se configuram pela falta de planejamento e de ordenamento territorial. Para essa análise, utilizou-se produtos de sensoriamento remoto em escala multitemporal, com perspectivas temporais em que se pode trabalhar e entender as rupturas de paradigmas em diferentes momentos históricos. Para isso, foram feitas análises em um levantamento aerofotogramétrico, adquirido pelo Exército Brasileiro, na Escala 1:75.000 do ano de 1964, análises em Imagens de Satélite Landsat TM7, do ano de 1996 e Imagens de Satélite QuickBird do ano de 2010. Portanto, esse trabalho propôs uma análise em escala multitemporal no processo de urbanização dos balneários do Hermenegildo e da Barra do Chuí, para um melhor entendimento do porquê dos problemas com as construções residenciais na faixa frontal ao Oceano Atlântico, que tem levando muitos moradores a perda total de suas residências. Verificou-se que a evolução dos percentuais de ocupação urbana nos balneários do Hermenegildo e da Barra do Chuí foi bastante significativa, sendo o que os dois balneários apresentaram crescimento mais elevado nas três primeiras décadas analisadas e ainda concluiu-se que no último intervalo da análise os índices de crescimento urbano foram menores para os dois balneários, recomendando-se maiores estudos e monitoramento dos vetores de crescimento urbano para ambos os balneários, com maior atenção para o balneário do Hermenegildo, devido ao grave problema de erosão costeira. / Coastal zones are constantly affected by the pressure process, caused by the human action, which ends up breaking the dominant balance, as well as by the action of the nature, which is mainly related to geologic and climatic factors and to the coastal dynamic. This study aims to analyze the urban occupation evolution process along Santa Vitória do Palmar coastline, especially Balneário do Hermenegildo and Balneário da Barra do Chuí, considering the fact that this specific territory presents lots of problems concerning its urbanization process. For this analysis, images captured by remote sensing were used in a multitemporal scale, trough time perspectives that enable this study to develop and understand the paradigmatic ruptures in different historical periods. In order to do so, different types of images were analyzed, such as the aerial photogrammetric survey, taken by the Brazilian Army, in the 1:75.000 scale of 1964, TM7 Landsat Satellite Images, taken in 1996, and QuickBird Satellite Images, taken in 2010. Therefore, this study promoted an analysis in a multitemporal scale of the urbanization process regarding the territory already mentioned, in order to discover the causes of the problems involving residential constructions located on the frontal area of the Atlantic Ocean, which might be the reason why the residents are totally losing their residences. It was found that the development of the urban occupation percentage in Balneário do Hermenegildo and Balneário da Barra do Chuí was very significant, based upon the fact that both beaches present a notorious increase on the first three analyzed decades and, beyond that, it was concluded that during the last interval of the analysis, the urban growth indices were lower for both, suggesting that this field demands more studies and monitoring of the urban growth vectors for both beaches, attaching particular attention to Balneário do Hermenegildo because of its severe coastal erosion problem.

Made available in DSpace on 2016-06-02T20:19:07Z (GMT). No. of bitstreams: 1 1752.pdf: 1459122 bytes, checksum: 300e94014e88196b37e1ec53acd4912a (MD5) Previous issue date: 2008-04-24 / Universidade Federal de Sao Carlos / Objectives: To investigate three variables of the respiratory process pulmonary ventilation ( E), oxygen consumption ( O2), and production of carbon dioxide ( CO2) during Activities of Daily Living (ADL) and functional tests of the lower limbs (LL) in individuals with Chronic Obstructive Pulmonary Disease (COPD) and Control Group; verify if the methods employed to evaluate ADL adequately reflect the functional limitation of individuals with COPD; and if there is a correlation between the variables evaluated during ADL, the performance on Lower Limb tests and peripheral muscle impairment of the Upper Limbs (UL) to the BODE Index (Body mass index; airflow Obstruction; Dyspnea and Exercise capacity) in individuals with COPD. Material and Methods: The sample was composed of 17 men from the ages of 58 to 80 years old, ten of whom had moderate to severe pulmonary obstruction composed the COPD Group (COPDG) and seven healthy men composed the Control Group (CG). All performed the ADL Test and were evaluated by ventilatory and metabolic variables; the Six Minute Walking Test in Corridor (6MWTC) by Distance Walked (DW); the Six Minute Walking Test on Treadmill (6MWTT) by DW and velocity; the Sit To Stand Test (STST) by the number of sit and stand up repetitions performed and the Hand Grip Strength Test in different postures. The COPDG was classified by the BODE Index and correlations between the tests performed and the BODE Index were found for the COPDG. Results: Intergroup analysis detected significant differences (p<0.05) in relation to ADL of lifting container to eye level ( E, CO2), combing hair, lifting containers to above shoulder level, hanging out clothes on the clothesline and sweeping the floor ( CO2) and in 6MWTC for DW, 6MWTT for velocity and STST for number of repetitions of sitting and standing from chair. The BODE Index presented a strong (r&#8805;0.66) to 6MWTT, STST and Hand Grip Strength. Conclusion: Individuals with COPD present a lower tolerance for physical effort compared to the CG during performance of the ADL and LL tests. The methods employed to evaluate the ADL did not reflect the functional limitation of the COPDG which was primarily composed of individuals with moderate obstructions. The Bode Index predictor of severity presented an association to limiting factors evaluated in the 6MWTT, STST and Hand Grip Strength Test for the COPDG; and thus suggests the possible use of these same tests to calculate physical exercise capacity in the BODE Index. / Objetivos: investigar o comportamento da ventilação pulmonar ( E) do consumo de oxigênio ( O2) e da produção de dióxido de carbono ( CO2) nas atividades da vida diária (AVD) e nos testes funcionais de membros inferiores (MMII) dos indivíduos com doença pulmonar obstrutiva crônica (DPOC) e controle; verificar se os métodos empregados para a avaliação das AVD refletem adequadamente a limitação funcional dos indivíduos com DPOC; e se há correlação entre as variáveis avaliadas durante as AVD, o desempenho nos testes de MMII e o comprometimento muscular periférico de membros superiores (MMSS) com o índice BODE (Body mass index; airflow Obstruction; Dyspnea and Exercise capacity) nos indivíduos com DPOC. Material e Métodos: A amostra foi composta por 17 homens na faixa etária de 58 a 80 anos, sendo dez com DPOC de obstrução pulmonar moderada a muito grave compondo o grupo DPOC (GDPOC) e sete saudáveis compondo o grupo controle (GC). Todos foram avaliados quanto a realização do teste das AVD pelas variáveis ventilatórias e metabólicas; ao teste de caminhada de seis minutos em corredor (TC6Co) pela distância percorrida (DP); ao teste de caminhada de seis minutos em esteira (TC6E) pela DP e velocidade; ao teste de sentar e levantar da cadeira (TSLC) pelo número de repetições ao sentar e levantar e ao teste de preensão palmar em diferentes posturas. O GDPOC foi classificado quanto ao índice BODE e foram realizadas correlações entre os testes realizados e esse índice nesse mesmo grupo. Resultados: a análise intergrupo detectou diferença significativa (p<0,05) em relação a AVD de elevar potes na altura dos olhos ( E, CO2), pentear os cabelos, elevar potes acima dos ombros, estender roupa no varal e varrer o chão ( CO2) e nos TC6Co quanto a DP, no TC6E quanto a velocidade e no TSLC quanto ao número de repetições ao sentar e levantar da cadeira. Constatou-se ainda que o índice BODE apresentou forte correlação (r&#8805;0,66) com o TC6E, TSLC e com a força de preensão palmar. Conclusão: os indivíduos com DPOC apresentaram menor tolerância ao esforço físico comparado ao GC durante a realização das AVD e dos testes de MMII. Que os métodos empregados para a avaliação das AVD utilizados não refletiram a limitação funcional do GDPOC que apresentou predominantemente moderada obstrução; e que o preditor de gravidade índice BODE apresentou associação com os fatores limitantes avaliados nos TC6E, TSLC e com a força de preensão palmar nesse grupo; apontando a possibilidade de sugerir a utilização dos mesmos na determinação da capacidade de exercício físico no cálculo do índice BODE.

Submitted by Viviane Lima da Cunha (viviane@biblioteca.ufpb.br) on 2016-02-16T16:06:07Z No. of bitstreams: 1 arquivototal.pdf: 3758225 bytes, checksum: 9b36904ee6da8a9b5182f3af462d91cd (MD5) / Made available in DSpace on 2016-02-16T16:06:07Z (GMT). No. of bitstreams: 1 arquivototal.pdf: 3758225 bytes, checksum: 9b36904ee6da8a9b5182f3af462d91cd (MD5) Previous issue date: 2015-10-23 / Biometrics provides a trusted authentication mechanism by using traits (physical or behavioral) which identify users based on their natural characteristics. Biometric services of classification and verification of users are considered, in principle, more secure than password-based systems, requiring the presentation of a unique physical characteristic and, therefore, the presence of the user at least in the moment of authentication. However, such methods have vulnerabilities that result in high rates of false verification, even in the most modern systems. On the other hand, Genetic algorithms (GA) are an optimization approach based on the principle of natural selection proposed by Charles Darwin which has been proving to be a useful tool in finding solutions to complex problems. Moreover, the use of genetic algorithms in biometrics systems has also been growing as they are an interesting alternative for selecting features. This work applies a genetic algorithm-based approach to optimizing parameters of classification and verification of a hand dataset. The BioPass-UFPB multi-biometric dataset is presented and used to test and validate the proposed method. In total, 99 features – 85 geometric features and 14 texture features - extracted from each hand image were used. Additionally, the importance of each feature is also analyzed. The results showed relative improvements of EER greater than 30% and 90% in the best cases of the two verification approaches performed, respectively. As for classification, the use of genetic algorithms were able to reduce, on average, the number of templates to be recovered by the system to ensure that at least one of these is of the same class of the reference sample. In conclusion, both the results showed and the BioPass-UFPB dataset might help the development of new hand geometry-based biometric recognition systems. / A Biometria oferece um mecanismo de autenticação confiável utilizando traços (físicos ou comportamentais) que permitem identificar usuários baseados em suas características naturais. Serviços biométricos de classificação e verificação de usuários são considerados, a princípio, mais seguros que sistemas baseados em políticas de senha, por exigirem a apresentação de uma característica física única e, portanto, a presença do usuário ao menos no momento da autenticação. No entanto, tais métodos apresentam vulnerabilidades e podem resultar em alta taxa de verificação falsa, mesmo em sistemas mais modernos. Algoritmos genéticos (GA), por sua vez, são uma abordagem de otimização baseada no princípio da seleção natural de Charles Darwin e que vêm provando, ao longo dos anos, ser uma ferramenta útil na busca de soluções em problemas complexos. Além disso, seu uso em sistemas biométricos também vem crescendo por se mostrar uma alternativa para seleção de características. Este trabalho utiliza os algoritmos genéticos como ferramenta na otimização de atributos para classificação e verificação biométrica por geometria da mão e impressão palmar. A Base Multibiométrica BioPass-UFPB é apresentada e empregada para teste e validação do método proposto. Ao todo, 99 atributos – sendo 85 geométricos e 14 de textura - extraídos de cada imagem são utilizados e análises sobre a importância desses atributos são realizadas. Os resultados mostraram que, nas duas abordagens de verificação empregadas, os algoritmos genéticos conseguiram melhoras superiores a 30% e 90% da EER em relação ao caso em que o GA não era aplicado. Na classificação, o uso de algoritmos genéticos conseguiu reduzir na média o número de templates a serem recuperados pelo sistema para garantir que ao menos um desses seja da mesma classe da amostra de referência. Por fim, espera-se que os resultados deste trabalho, bem como a base BioPass-UFPB, sirvam de referência na implementação de novos sistemas de reconhecimento biométrico baseados na geometria da mão.

Durch die Einführung der MRT-Untersuchung am stehenden sedierten Pferd ist deren Anzahl deutlich angestiegen. Hierbei stellen sich neue Fragen und Herausforderungen bezüglich der Einschätzung der Vielzahl an auftretenden Signalveränderungen. Es ergeben sich aber auch neue Möglichkeiten bezüglich der statistischen Auswertung von Befunden mit aussagekräftigen Fallzahlen. In dieser Studie sollte daher untersucht werden, wie Signalveränderungen statistisch verwendbar beschrieben und eingestuft werden können. Weiterhin sollte die Verteilung der Befunde insgesamt und bei der bilateralen Untersuchung der Vordergliedmaßen bestimmt werden. Mögliche Rückschlüsse auf deren klinische Bedeutung sollten gezogen werden. Hierzu wurden 120 bilaterale Niederfeld-MRT-Untersuchungen der Hufregion (240 Gliedmaßen) am stehenden Pferd durch zwei Tierärzte gesichtet und eine Befundbeschreibung mit einem Einstufungsschema (Grade 1-4) entsprechend dem vorgefundenen Spektrum an Signalveränderungen erstellt. Durch Anwendung und Zusammenfassung 66 wiederholte Diskussion der verschiedenen Kriterien im 1. Bewertungsdurchgang wurden die Beschreibungen und Grade auf Grundlage bestehender Literatur ausgearbeitet. In einem 2. Bewertungsdurchgang wurden die Strukturen eingestuft und die Ergebnisse statistisch ausgewertet. Hierbei wurden die generellen Häufigkeiten der Signalabweichungen erfasst und deren Zusammenhang zum Auftreten von unilateralen oder bilateralen Lahmheiten beachtet. Signalabweichungen am Strahlbein, der Tiefen Beugesehne und dem Hufgelenk standen deutlich im Vordergrund. Hierbei waren Strahlbeinveränderungen signifikant häufiger bei beidseitig lahmen Pferden zu finden, während Sehnenveränderungen deutlich häufiger bei einseitig lahmen Pferden vorgefunden wurden. Hufgelenkveränderungen wurden hingegen nicht signifikant vermehrt bei bilateralen oder unilateralen Lahmheiten festgestellt. Die Fesselbein-Strahlbein-Hufbeinbänder zeigten eine Häufung von Signalabweichungen bei lahmen Gliedmaßen, wobei diese vermehrt in Zusammenhang mit starken Veränderungen des Strahlbeins zu beobachten waren. Bei den übrigen Strukturen ließ sich kein statistisch aussagekräftiger Zusammenhang feststellen, da die Fallzahlen mit dem deutlichsten Befund an diesen Strukturen zu gering für eine Auswertung waren. Die entstandene Befundbeschreibung mit Einstufungsschema ermöglicht Vergleiche der MRT-Veränderungen z.B. mit klinischen Parametern. Signalabweichungen bestimmter Strukturen konnten statistisch eindeutig mit dem Auftreten und der Art der Lahmheit in Verbindung gebracht werden, während dies bei anderen Strukturen nicht möglich war. Hieraus ergeben sich Hinweise für die Einschätzung der Befunde und ihrer klinischen Relevanz. Insbesondere geringgradige Befunde sollten vorsichtig bewertet werden, da diese auch häufig bei nicht lahmen Gliedmaßen auftraten. Weitere statistische Vergleiche mit klinischen Parametern sind möglich und notwendig um das Krankheitsbild des „Equinen palmaren Fußsyndroms“ weiter zu untersuchen. / As a result of adopting MRI examinations for standing sedated horses their number has increased significantly. In this respect there are new questions and challenges being faced regarding estimating the huge number of occurring signal changes. New possibilities also arise regarding the statistical analysis of findings with convincing number of examined cases. In this study therefore it should be investigated how signal changes can be suitably described and classified statistically. Furthermore, the distribution of the findings as a whole and in the bilateral investigations of the forelimbs should be ascertained. Possible conclusions should be drawn regarding their clinical significance. Concerning this, 120 bilateral low-field-MRI examinations of the foot (240 limbs) on a standing horse were looked at by two veterinarians and a description of the analysis with a classification scheme (grades 1-4) corresponding to the existing spectrum of signal changes was compiled. By applying and repeatedly discussing the various Summary 68 criteria in the first evaluation round the descriptions and grades were worked out on the basis of existing literature. In a second evaluation round the structures were classified and the results statistically evaluated. In this regard the general frequency of signal deviations was recorded and its connection to the occurrence of unilateral or bilateral lameness was observed. Signal deviations at the navicular bone, deep digital flexor tendon and the coffin joint noticeably prevailed. In this respect changes to the navicular bone were found significantly more frequently in bilaterally lame horses while changes in tendons were found significantly more often in unilaterally lame horses. In contrast, changes in the coffin joint were not significantly more in bilateral or unilateral lameness. The collateral sesamoidean ligaments showed an accumulation of signal deviations at lame limbs, whereby this was observed more frequently in connection with pronounced changes of the navicular bone. In the remaining structures no statistically significant connection was found as the number of examined cases with the most significant results at these structures was too low for an evaluation. The related description of the findings with a classification scheme enables comparisons of MRI changes e.g. with clinical parameters. Signal deviations of certain structures were found to be clearly statistically associated with the occurrence and type of lameness, while this was not possible at other structures. This provides useful information for evaluating findings and their clinical relevance. Low-grade findings should be interpreted with caution since these also occurred frequently at non-lame limbs Further statistical comparisons with clinical parameters are possible and necessary in order to further examine the clinical picture of the equine palmar foot syndrome.

Made available in DSpace on 2016-06-02T20:19:10Z (GMT). No. of bitstreams: 1 2257.pdf: 1719457 bytes, checksum: a8bbb05ab969a42bf231021b441fe5f0 (MD5) Previous issue date: 2009-02-16 / Financiadora de Estudos e Projetos / Introduction: Individuals with chronic obstructive pulmonary disease (COPD) present a decrease in peripheral muscle strength, leading to impaired mobility and increased death risk. However, there are a lack of studies that verify if the peripheral muscle strength have relationship with the BODE index scale and fat-free mass. Objectives: To verify the relationship between maximum upper-limb (UL) muscle strength and lower-limb (LL) muscle strength with a BODE index, isolated variables and fat-free mass in subjects with moderate to very severe COPD. Methods: Twenty-six individuals with moderate to very severe COPD (FEV1<80% of predict) were evaluated regarding body composition (body mass index-BMI and fat-free mass), BODE index, handgrip force (HGF) and one repetition maximum test (1RM) of the UL and LL. Results: Observed moderate to strong positive correlation (Pearson, p <0.05) between peripheral muscle strength with the fat-free mass and distance walked in the six-minute walk test (6MWD). However, the BODE index were not correlated with force measurement or fat-free mass. Conclusion: It can be concluded that the evaluation of peripheral muscle strength is not related to the BODE index. In such case, the peripheral muscle force measures need be used assisting the assessment of COPD subjects performance. / Introdução: Indivíduos com doença pulmonar obstrutiva crônica (DPOC) apresentam redução da força muscular periférica, conduzindo à mobilidade prejudicada e aumento do risco de morte. No entanto, há uma escassez de estudos que verificam se a força muscular periférica tem relação com o índice BODE e a massa magra. Objetivos: Verificar se há relação entre a força muscular de membros superiores (MMSS) e membros inferiores (MMII) com índice BODE, suas variáveis isoladas e massa magra em indivíduos com DPOC apresentando obstrução moderada a muito grave. Métodos: Vinte e seis indivíduos com DPOC moderada a muito grave (VEF1<80% do previsto) foram avaliados quanto à composição corporal (índice de massa corpórea IMC e massa magra), índice BODE, força de preensão palmar (FPP) e teste de uma repetição máxima (1RM) dos MMSS e MMII. Resultados: Observou-se correlação positiva moderada a forte (Pearson, p<0,05) entre a força muscular periférica com a massa magra e distância percorrida no teste de caminhada de seis minutos (TC6). No entanto, o índice BODE não se correlacionou com parâmetros de força ou massa magra. Conclusão: Conclui-se que a avaliação da força muscular periférica não se relaciona com o índice BODE. Neste sentido, as medidas de força muscular periférica devem ser utilizadas auxiliando a avaliação da performance dos indivíduos com DPOC.

Après un bref rappel des facteurs de risque cardiovasculaires et une revue du métabolisme des lipides, de la classification des dyslipidémies et de la pathophysiologie des xanthomes, sera abordée la dysbêtalipoprotéinémie (anciennement la dyslipidémie de type III). Cette dyslipidémie caractérisée par l’accumulation de particules de remnants, généralement secondaire à une apolipoprotéine E anormale, est hautement athérogène, tant au niveau vasculaire périphérique que coronarien. Jusqu’à présent, les plis palmaires orangés, définis comme étant une coloration jaune à orangée (parfois brunâtre) des plis palmaires ainsi que digitaux, ont été considérés pathognomoniques de cette dyslipidémie. Par l’étude d’une population caucasienne adulte du Saguenay –Lac Saint-Jean, nous avons pu démontrer une prévalence de 18,8% des plis palmaires orangés chez les patients atteints d’une dysbêtalipoprotéinémie. Également, cette étude a permis de mettre en lumière l’absence des critères de dysbêtalipoprotéinémie chez 10,7% des sujets présentant ce type de xanthome. Les données suggèrent que l’expression de plis palmaires orangés est associée à la présence d’une accumulation soutenue ou récurrente de remnants. L’accumulation de ces remnants est possible dans un large spectre de maladies lipidiques où il y a interférence dans l’hydrolyse ou la clairance des remnants, dont la dyslipidémie post-prandiale, la chylomicronémie, le déficit partiel en lipoprotéine lipase (LPL) et dans l’hypercholestérolémie familiale (HF) sévère, principalement chez les individus homozygotes. La recherche en clinique des plis palmaires orangés pourrait apporter des éléments complémentaires dans l’évaluation du risque cardiovasculaire en tant que marqueur d’une accumulation de remnants qui, pour leur part, ont été démontrés conférer un risque cardiovasculaire augmenté, tant en prévention primaire que secondaire. / After a brief review of cardiovascular risk factors and lipid metabolism, classification of dyslipidemias, the pathophysiology of xanthomas as well as dysbetalipoproteinemia will be discussed. This dyslipidemia which is characterized by the accumulation of remnants particules, generally secondary to an abnormal apolipoprotein E, is highly atherogenic, both at the peripheral vascular and coronary levels. The striated palmar xanthomas, defined as a yellow to orange (sometimes brownish) coloration of the palmar and digital folds, are considered pathognomonic of this formerly called type III dyslipidemia. By studying an adult Caucasian population from the Saguenay–Lac Saint-Jean region, we were able to demonstrate a prevalence of 18.8% of orange palmar folds in patients with dysbetalipoproteinemia. Also, this study allowed to shed light on the absence of criteria for dysbetalipoproteinemia in 10.7% of subjects with this type of xanthoma. These data suggest that the expression of striated palmar xanthomas is associated with the presence of a sustained or recurrent accumulation of remnants. The accumulation of these remnants is possible in a broad spectrum of lipid disorders where there is interference in the hydrolysis or clearance of the remnants, including postprandial dyslipidemia, chylomicronemia, partial lipoprotein lipase deficiency and familial hypercholesterolemia mainly in homozygotes. Clinical research of striated palmar xanthomas could provide additional information in the evaluation of cardiovascular risk as a marker of an accumulation of remnants which, for their part, have been shown to confer an increased cardiovascular risk, both in primary prevention and secondary.

Nos mamíferos, a determinação sexual é governada pelo equilíbrio entre duas vias de sinalização paralelas e antagônicas: a via masculina SOX9/FGF9 e a via feminina RSPO1/beta-catenina/WNT4. A R-spondina 1 é uma importante reguladora do processo de diferenciação ovariana e atua modulando a via de sinalização Wnt canônica (Wnt/beta-catenina). Em humanos, mutações em RSPO1 causam uma rara síndrome genética autossômica recessiva caracterizada por Distúrbios do Desenvolvimento Sexual (DDS) 46,XX Testicular ou Ovotesticular, hiperceratose palmoplantar (HPP) e predisposição para o desenvolvimento de carcinoma de células escamosas (MIM 610644). Identificamos um paciente brasileiro, proveniente de uma grande família consanguínea, que apresentava a associação de HPP e DDS 46,XX Testicular SRY negativo. A avaliação da região codificadora do gene RSPO1 identificou a nova variante alélica c.305G>A (p.Cys102Tyr). O estudo de segregação realizado em 67 familiares demonstrou que a variante c.305G>A segrega em perfeita concordância com o fenótipo de HPP, exibindo um padrão de herança autossômico recessivo. Na família foram identificados 10 indivíduos afetados pelo fenótipo de HPP. As avaliações clínica e hormonal e os estudos molecular e citogenético nesses indivíduos resultou na caracterização de: (a) quatro indivíduos do sexo masculino 46,XX e/ou SRY negativo, com ambiguidade genital e perfil hormonal alterado; (b) cinco indivíduos do sexo masculino 46,XY e/ou SRY positivo, sem ambiguidade genital, com perfil hormonal normal e (c) uma mulher 46,XX, fértil. Experimentos de transfecção transitória in vitro demostraram que a proteína mutante tem menor capacidade de transativação do plasmídio reporter da via Wnt. As simulações de dinâmica molecular constataram que a troca p.Cys102Tyr aumenta a flexibilidade do backbone da R-spondina-1, diminuindo a energia de ligação da proteína ao complexo de receptores, LGR5 e RNF43. Em conjunto, nossos achados demonstram que a variante c.305G > A é patogênica, sendo responsável pela síndrome genética diagnosticada na família brasileira. As análises de expressão gênica e os estudos de imuno-histoquímica, por sua vez, detectaram um aumento da expressão do gene SOX9 e maior imonorreatividade para a proteína Sox9 no tecido testicular do caso índice. Esses resultados sugerem que o processo de reversão sexual nos indivíduos XX ocorra por uma hiperexpressão de SOX9 secundária à menor ativação da via Wnt/beta-catenina na gônada durante a embriogênese. No presente estudo também relatamos o primeiro caso de indivíduo de cariótipo 46,XX portador de mutação em homozigose no gene RSPO1 que não desenvolveu DDS. A variabilidade do fenótipo sexual não está associada com alterações no número de cópias dos genes WNT4 ou do SOX9 e região cis-regulatória. No entanto, a avaliação do exoma da família encontrou uma associação entre o polimorfismo do receptor LGR5 rs17109924 e a atenuação do fenótipo de DDS. Todavia, serão necessários estudos funcionais para esclarecer o impacto biológico da interação das variantes RSPO1 p.Cys102Tyr e LGR5 rs171099 / In mammals, sex determination is governed by the balance between two parallel and antagonic signaling pathways: the male SOX9/FGF9 and the female, RSPO1/beta-catenin/WNT4 pathways. R-spondin 1 regulates the ovarian differentiation process by its modulating action through the canonic Wnt pathway (Wnt/beta-catenin). In humans, patogenic mutations in RSPO1 cause a rare, autosomic recessive syndrome characterized by 46,XX Testicular or Ovotesticular disorders of sexual development (DSD), palmoplantar keratosis (PPK) and predisposition to squamous cell carcinoma (MIM 610644). We identified and studied a SRY-negative 46,XX DSD patient with PPK from a large, consaguineous, brazillian family. Through a \"candidate gene\" approach we identified in the proband a new allelic variant in the coding region of RSPO1, c.305G > A. This variant presented full concordance with the PPK phenotype by segregation analyses in 10 of 67 members of this family. Clinical, hormonal, cytogenetic and molecular genetic studies characterized three patterns in individuals with this variant: (a) four 46,XX and/or SRY-negative males with ambiguous genitalia and altered hormonal profile; (b) five 46,XY and/or SRY-positive males without ambiguous genitalia with normal hormonal profile; (c) one 46,XX fertile woman. In vitro experiments demonstrated that transient transfection of the mutant protein resulted in lower transactivation of the Wnt pathway-reporter plasmid. Moreover, molecular dinamic studies showed that p.Cys102Tyr increased the R-spondin-1 backbone flexibility, thus decreasing the interaction between this protein and its receptors, LGR5 and RNF43. Thus, both in vitro and in silico analysis demonstrate the pathogenicity of the RSPO1 variant c.305G > A. In addition, in the index case, a higher expression of SOX9, corroborated by a reactive immunohistochemistry in testicular tissue, suggested that the process of sexual reversal in the XX individual is driven by a higher SOX9 expression possibly due to a lower Wnt/beta-catenin signaling pathway activation during embriogenesis. In this study, we also reported the first 46,XX individual with RSPO1 mutation without DSD, in which no copy number abnormality was detected in WNT4, SOX9 and its cisregulatory regions. Whole exome sequencing of the affected individuals revealed, in turn, that the LGR5 rs17109924 polymorphism associates with a protacted DSD phenotype in the fertile woman with normal hormonal profile. Despite this evidence, future studies are nedded to address causality and biological impact between RSPO1 p.Cys102Tyr and LGR5 rs17109924 variants

Παρά τον μεγάλο όγκο της βιβλιογραφίας σχετικά με τα αποτελέσματα της αντιμετώπισης των ασταθών καταγμάτων του περιφερικού άκρου της κερκίδας με κλειστή ανάταξη και ελάχιστα επεμβατική οστεοσύνθεση υπάρχουν ακόμα σημαντικά αναπάντητα ερωτήματα. Πιό συγκεκριμένα, δεν υπάρχουν επαρκή στοιχεία γιά τον ρυθμό αποκατάστασης των κλινικών παραμέτρων κατά τη διάρκεια της μετατραυματικής περιόδου, γιά το τελικό αποτέλεσμα όπως εκφράζεται από τους ασθενείς με τη χρήση κλιμάκων αυτο-αξιολόγησης, καθώς και γιά τον βαθμό επίδρασης συγκεκριμένων ακτινολογικών παραμέτρων στο τελικό λειτουργικό αποτέλεσμα. Επίσης, δεν έχει διερευνηθεί ο συσχετισμός μεταξύ της ακτινολογικής παραμέτρου της παλαμιαίας γωνίας του περιφερικού άκρου της κερκίδας και των φορτίων που αναπτύσσονται στην φυσιολογική κερκιδοκαρπική άρθρωση. Η εργασία αυτή αποτελεί μία προοπτική μελέτη ασταθών καταγμάτων του περιφερικού άκρου της κερκίδας που αντιμετωπίστηκαν με κλειστή ανάταξη και ελάχιστα επεμβατική (διαδερμική) οστεοσύνθεση. Έγινε ανάλυση ακτινολογικών και κλινικών παραμέτρων καθώς και χρησιμοποίηση κλίμακας αυτο-αξιολόγησης της δυσλειτουργίας της πηχεοκαρπικής άρθρωσης γιά συνολικό διάστημα ενός έτους μετά τον τραυματισμό. Τα αποτελέσματα έδειξαν ότι ο ‘τυπικός’ ρυθμός μετατραυματικής αποκατάστασης αντιστοιχεί σε ταχεία κλινική βελτίωση κατά τη διάρκεια των τριών πρώτων μηνών ακολουθούμενη από ήπιου βαθμού δυσλειτουργία. Ωστόσο σημαντική δυσλειτουργία παραμένει σε 10% των ασθενών ένα έτος μετά τον τραυματισμό. Επίσης, τα αποτελέσματα δείχνουν σημαντικές διαφορές στο βαθμό κατά τον οποίο ο περιορισμός συγκεκριμένων αντικειμενικών κλινικών παραμέτρων αντανακλά το επίπεδο δυσλειτουργίας της πηχεοκαρπικής άρθρωσης. Ακτινολογικά, η μόνιμη απώλεια της παλαμιαίας γωνίας, η κερκιδική βράχυνση και η παρουσία ανωμαλίας της αρθρικής επιφάνειας της πηχεοκαρπικής με αρθρικό ‘βήμα’ τουλάχιστον ενός χιλιοστού σχετίζονται με επιμένοντα συμπτώματα πόνου και δυσλειτουργίας, ενώ δεν υπάρχει εμφανής συσχέτιση μεταξύ του τύπου του κατάγματος και του τελικού λειτουργικού αποτελέσματος. Επιπλέον, ανάλυση δυνάμεων της φυσιολογικής πηχεοκαρπικής άρθρωσης έδειξε φορτίσεις που μπορεί να φθάνουν έως 4,2 φορές το ανυψούμενο βάρος, αντίστροφο συσχετισμό μεταξύ της παλαμιαίας γωνίας του περιφερικού άκρου της κερκίδας και του μέγιστου φορτίου στην κερκιδοκαρπική άρθρωση καθώς και μη σημαντική διαφορά μεταξύ της γωνίας διεύθυνσης του μέγιστου φορτίου της κερκιδοκαρπικής και της παλαμιαίας γωνίας του περιφερικού άκρου της κερκίδας. / Despite the large volume of published literature on the results of management of unstable fractures of the distal radius using closed reduction and minimally invasive fixation there are still significant unanswered questions. More specifically, there is no sufficient evidence about the rate of recovery of the clinical parameters over the post-traumatic period, the final outcome as expressed by the patients using self-assessment scores and the degree that specific radiographic parameters influence the final functional outcome. Furthermore, the correlation between the radiographic parameter of volar tilt of the distal radius and the normal loads in the radiocarpal joint has not been investigated. The present thesis is a prospective study of unstable fractures of the distal radius managed with closed reduction and minimally invasive (percutaneous) fixation. Analysis of radiographic and clinical parameters as well as of patient-rated wrist dysfunction score for one year following injury was carried out. The results showed that a ‘typical’ rate of post-traumatic recovery corresponds to an initial rapid clinical improvement for the first three months followed by mild wrist dysfunction. However, significant dysfunction persists in 10% of patients one year following injury. Furthermore, the results showed significant differences in the degree to which the restriction of specific objective clinical parameters reflected the level of wrist dysfunction. Regarding the radiographic parameters, permanent loss of palmar tilt of the distal radius, radial shortening and the presence of articular incongruency with an articular ‘step off’ of at least 1 mm correlate with persisting pain and dysfunction while there is no obvious correlation between the fracture type and the final functional outcome. Moreover, force analysis in the normal wrist showed loads as high as 4.2 times the lifted weight, a reverse relationship between the angle of palmar tilt of the distal radius and the maximum radiocarpal load as well as a nonsignificant difference between the angle of the maximum radiocarpal force and the angle of palmar tilt of the distal radius.

Die Weltgesundheitsorganisation WHO schätzte die Zahl der an Malaria erkrankten Menschen im Jahr 2009 auf weltweit 225 Millionen. Auf dem afrikanischen Kontinent betrafen 85% der durch Malaria verursachten Todesfälle Kinder unter fünf Jahren. Obwohl die Inzidenzen der P. falciparum-Malaria in einigen Teilen des subsaharischen Afrika sinken und andere Erkrankungen mit ähnlichen Symptomen wie denen der Malaria an Bedeutung gewinnen, ist eine vorsorgliche medikamentöse Behandlung im Verdachtsfall weiterhin üblich. Ziel dieser Arbeit ist die Generierung eines auf das Lebensalter bezogenen klinischen Algorithmus, der mit einfachen klinischen Symptomen die Diagnose einer P. falciparum - Parasitämie ermöglicht. Die Studie wurde in einem ländlichen Krankenhaus in der Ashanti-Region in Ghana durchgeführt, welche über das ganze Jahr hinweg holoendemisch für Malaria ist. Insgesamt wurden 5447 ambulante Besuche von 3641 Patienten im Alter zwischen 2-60 Monaten analysiert. Alle Kinder wurden von einem Pädiater klinisch untersucht und es wurden ein kleines Blutbild sowie ein Malariaausstrich (‘Dicker Tropfen’) angefertigt. Mit Hilfe einesClassification and Regression Tree (CART) wurde ein klinischer Entscheidungsbaum für die Prädiktion einer Plasmodium-Parasitämie generiert und prädiktive Werte für alle erfassten Symptome berechnet. Eine Parasitämie wurde bei Kindern im Alter von 2-12 Monaten mit einer Prävalenz von 13.8% und bei Kindern im Alter zwischen 12 und 60 Monatenmit einer Prävalenz von 30.6% gefunden. Das CART-Modell ergab altersabhängige Unterschiede in der Fähigkeit der Variablen eine Parasitämie vorherzusagen. Während sich bei Kindern im Alter zwischen 2 und 12 Monaten die „palmare Blässe“ als das wichtigste Symptom herausstellte, gewannen die Variablen „Fieber in der Anamnese“ und „erhöhte Körpertemperatur ≥ 37.5°C“ bei Kindern im Alter zwischen 12 und 60 Monaten an Bedeutung. Die Variable „palmare Blässe“ war bei Kindern jedes Alters signifikant (p<0.001) mit niedrigeren Hämoglobinwerten assoziiert. Im Vergleich zum Algorithmus des Integrated Management of Childhood Illness (IMCI) hatte das CART-Modell eine deutlich höhere Spezifität sowie einen höheren positiven prädiktiven Wert für die Vorhersage einer Parasitämie. Die Anwendung von altersbezogenen Algorithmen erhöht die Spezifität der Vorhersage einer P. falciparum - Parasitämie. Selbst in einer Population mit einer hohen Prävalenz an Anämie ermöglicht der prädiktive Wert der „palmaren Blässe“ eine Erkennung von signifikant geringeren Hb-Werten. Die Bedeutung der „palmaren Blässe“ sollte daher in der Schulung von Gesundheitshelfern hervorgehoben werden. Mangels ausreichender Sensitivität kann allerdings weder auf Basis des besten Algorithmus noch mit „palmarer Blässe“ als einzelnem klinischem Zeichen eine Therapieentscheidung getroffen werden. Sie sind daher kein Ersatz für eine vorsorgliche medikamentöse Behandlung und einen Erregernachweis.