Orientador : Iscia T. Lopes-Cendes / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas / Made available in DSpace on 2018-08-03T05:12:52Z (GMT). No. of bitstreams: 1 Camargo_MariaFranciscaAboinGomes_M.pdf: 3534931 bytes, checksum: e4a2a3fd9ac89defea2b3ec440bc4c3e (MD5) Previous issue date: 2002 / Resumo: As ataxias espinocerebelares (AEC) formam um grupo heterogêneo de doenças degenerativas do sistema nervoso central, caracterizadas por degeneração do cerebelo e suas vias aferentes e eferentes. Clinicamente, a maior parte dos pacientes com AEC apresentam alterações do equilíbrio e disartria, que evoluem de forma progressiva. As AEC autossômicas dominantes se iniciam normalmente na idade adulta. Até o momento, existem 16 loci mapeados para as formas dominantes de AEC: tipo 1 (SCA1) no cromossomo (cr) 6p, tipo 2 (SCA2) no cr 12q, tipo 3 ou doença de Machado-Joseph (SCA3/MJD) no cr 14q, tipo 4 (SCA4) no cr 16q, tipo 5 (SCA5) na região centromérica do cr 11, tipo 6 (SCA6) no cr 19p, tipo 7 (SCA7) no cr 3p, tipo 8 (SCA8) no cr 13q, tipo 10 (SCA10) no cr 22q, tipo 11 (SCAll) no cr 15q, tipo 12 (SCA12) no cr 5q, tipo 13 (SCA13) no cr 19q, tipo 14 (SCA 14) no cr 19q, tipo 16 (SCA 16) no cr 8q, tipo 17 (SCA 17) na região TATA- box da proteína e a atrofia dentatorubropalidoluisiana (DRPLA) no cr 12p. Em sete formas autossômicas dominantes, cujos genes já foram identificados (SCA1, SCA2, SCA3/MJD, SCA6, SCA7, SCA12 e DRPLA), a expansão de trinuc1eotídeo CAG localizada na região codificadora dos genes, foi identificada como a mutação responsável pela neurodegeneração, já na SCA8 a mutação respónsavel é uma repetição do trinuc1eotídeo CTG. Algumas evidências experimentais apontam para um ganho específico de função que levaria a toxicidade neuronal nas doenças causadas pela expansão do trinuc1eotídeos CAG. O objetivo principal deste projeto de pesquisa foi a determinação da frequência e das características moleculares das mutações responsáveis pelas diferentes formas de AEC em uma amostra da população brasileira. Cento e sessenta e três indivíduos com ataxia espinocerebelar progressiva foram analisados clinicamente e as amostras de sangue periférico foram coletados para os estudos moleculares. Os 163 pacientes pertenciam a 123 famílias não relacionadas entre si. O DNA genômico foi extraído de cada indivíduo e as amostras foram genotipadas pela técnica da PCR utilizando pares de "primer" que flanqueiam as regiões adjacentes aos tripletos expandidos encontrados nos genes SCA1, SCA2, SCA3/DMJ, SCA6, SCA 7, SCA8 e DRPLA. Os produtos da PCR foram submetidos a eletroforese em géis de sequenciamento por aproximadamente 3 horas. A leitura dos alelos foi por auto-radiografia após 3 diasd de exposição a filmes de raio-X. Na amostra de 123 famílias encontraram-se: 7 indivíduos portadores da mutação SCAJ (5%),2 indivíduos portadores da mutação SCA2 (2%), 52 indivíduos portadores da mutação SCA3/DMJ (32%) e 2 indivíduos portadores das mutação SCA7 (2%). Não se encontrou nenhum indivíduo portador das mutações: SCA6, SCA8, DRPLA. Observa-se que na população estudada a forma mais ftequente de AEC é causada pela mutação SCA3/DMJ. Nesse estudo foi também importante para estabelecer quais as AEC autossômicas dominantes mais ftequentes em nosso meio e assim orientar o diagnóstico clínico e molecular / Abstract: The spinoeerebellar ataxias (SCAs) are a clinieally and genetieally heterogeneous group of late onset neurodegenerative disorders. Clinieally this group of diseases is earaeterized by eerebellar dysfuetion manifested by gait and limb ataxia, incoordination and dysarthria. There are a total of sixteen loei for autosomal dominant SCAs deseribed: spinoeerebellar ataxia type I (SCA1) on ehromosome (eh) 6p, spinoeerebellar ataxia type 2 (SCA2) on eh 12q, spinoeerebellar ataxia type 3 (SCA3) or Maehado- Joseph disease (MJD) on eh 14q, spinoeerebellar ataxia type 4 (SCA4) on ch 16q, spinoeerebellar ataxia type 5 (SCA5) on the eentromerie region of eh 11, spinoeerebellar ataxia type 6 (SCA6) on eh 19p, spinoeerebellar ataxia type 7 (SCA7) on eh 3p, spinocerebellar ataxia type 8 (SCA8) on eh 13q, spinoeerebellar ataxia type 10 (SCA10) on eh 22q, spinoeerebellar ataxia type 11 (SCAll) on ch 15q, spinocerebellar ataxia type 12 (SCAI2) on ch 5q, spinoeerebellar ataxia type 13 (SCA13) on eh 19q, spinoeerebellar ataxia type 14 (SCAI4) on eh 19q, spinoeerebellar ataxia type 16 (SCAI6) on eh 8q, spinocerebellar ataxia type 17 (SCAI7) on the region ofTATA- box protein and dentatorubropallidoluysian atrophy (DRPLA) on ch 12p. Are eight different genes causing autosomal dominant SCA have been mapped: SCAl, SCA2, SCA3/MJD, SCA6, SCA 7, SCA12 and DRPLA eaused by expansions of an unstable CAG repeat loealized in the eoding region of causative genes. SCA8 is eaused by expansions of an unstable CTG repeat. The frequeney of SCAl, SCA2, SCA3/MJD, SCA6, SCA7, SCA8 and DRPLA in brazilian patients and to compare their molecular and clinical charaeteristies for SCAs mutations. One hundred and sixty three individuaIs were genotyped in this study. Of 163 individuaIs belonging to 123 unrelated families. Genomie DNA was isolated from peripheral blood leukoeytes. Polymerase elain reaetion (PCR) amplieation of the CAG repeat and CTG repeat. PCR products we separated in eletrophoresis on 6% denaturing polyaerylamide gels. Polyaerylamide gels we transfered into Hybond H+ nylon membranes and hybridized with an a 32p 3'- end- labeled (CAG)n probe. Were determined allele by eomparing migration relative to an M13 sequeneing ladder and used as positive and negative eontrols in a1l analyses. Of the 123 famiIies studied: 7 positive individuaIs ofthe SCAl mutation (5%),2 positive individuaIs ofthe SCA2 mutation (2%),52 positive individuaIs ofthe SCA3/MJD mutation (32%) and 2 positive individuaIs ofthe SCA7 mutation (2%). We found no SCA6, SCA7, DRPLA and SCA8 mutations. The &equency of SCA3/MJD is substantially higher than that of SCAl, SCA2 and SCA 7 in individuaIs with SCAs / Mestrado / Ciencias Biomedicas / Mestre em Ciências Médicas

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Αντικείμενο αυτής της μεταπτυχιακής εργασίας είναι ο εντοπισμός της ύπαρξης μιας κυρίαρχης ευρείας ζώνης ισοτροπικής πηγής κι η εκτίμηση των συντεταγμένων θέσης αυτής, όταν αυτή βρίσκεται σ’ έναν τρισδιάστατο ή δισδιάστατο χώρο, ο οποίος εποπτεύεται και παρακολουθείται από ένα δίκτυο τυχαία διασκορπισμένων αισθητήρων. Οι κόμβοι του δικτύου μπορούν να περιέχουν ακουστικά, παλμικά κι άλλου είδους μικροηλεκτρομηχανολογικά στοιχεία αίσθησης του περιβάλλοντος. Κατά την αίσθηση ενός γεγονότος ενδιαφέροντος μπορούν να αυτοοργανωθούν σ’ ένα συγχρονισμένο ασύρματο ραδιοδίκτυο χρησιμοποιώντας χαμηλής κατανάλωσης πομποδέκτες spread spectrum, ώστε να επικοινωνούν μεταξύ τους και με τους κεντρικούς επεξεργαστές. Ο εντοπισμός της ύπαρξης μιας κυρίαρχης πηγής σ’ ένα δίκτυο αισθητήρων, με τα παραπάνω χαρακτηριστικά, επιτεύχθηκε με τη χρήση μιας τυφλής μεθόδου μορφοποίησης λοβού, γνωστή ως μέθοδος συλλογής της μέγιστης ισχύος. Η μέθοδος αυτή, η οποία υλοποιήθηκε στα πλαίσια αυτής της εργασίας, παρέχει τις εκτιμήσεις των σχετικών χρόνων καθυστέρησης άφιξης του σήματος της κυρίαρχης πηγής στους αισθητήρες του δικτύου ως προς έναν αισθητήρα αναφοράς. Κύριο αντικείμενο μελέτης αυτής της εργασίας είναι ο υπολογισμός του κυρίαρχου ιδιοδιανύσματος του δειγματοληπτημένου πίνακα αυτοσυσχέτισης. Αυτό επιτυγχάνεται στη βιβλιογραφία που μελετήθηκε είτε με χρήση της δυναμικής μεθόδου είτε με χρήση της μεθόδου ιδιοανάλυσης. Ανά στιγμιότυπο δειγμάτων απαιτείται η ανανέωση του πίνακα αυτοσυσχέτισης κι ο υπολογισμός του κυρίαρχου ιδιοδιανύσματος. Όμως, οι δύο παραπάνω μέθοδοι για τον υπολογισμό αυτό χρειάζονται αυξημένη πολυπλοκότητα μιας κι η διάσταση του πίνακα είναι αρκετά μεγάλη. Η συνεισφορά της εργασίας αυτής έγκειται στη μείωση αυτής της πολυπλοκότητας με τη χρήση μιας προσαρμοστικής μεθόδου υπολογισμού του κυρίαρχου ιδιοδιανύσματος. Τέλος, αντικείμενο της εργασίας αυτής είναι και το πρόβλημα εντοπισμού και παρακολούθησης των συντεταγμένων θέσης της κυρίαρχης πηγής από τις εκτιμήσεις των σχετικών χρόνων καθυστέρησης άφιξης. / Object of this postgraduate work are the detection of presence of an isotropic wideband dominant source and the estimate of its coordinates of placement (localization), when the source is found in a three or two dimensional space, which is supervised and watched by a randomly distributed sensor network. The nodes of the network may contain acoustical, vibrational and other MEM-sensing (Micro-Electro-Mechanical) elements. Upon sensing an event of interest, they can self-organize into a synchronized wireless radio network using low-power spread-spectrum transceivers to communicate among themselves and central processors. The detection of presence of a dominant source in a sensor network, with the above characteristics, was achieved with the use of a blind beamforming method, known as the maximum power collection method. This method, which was implemented in the context of this work, provides estimates of the relative time delays of arrival (relative TDEs - Time Delay Estimations) of the dominant source’s signal to the sensors of the network referenced to a reference sensor. The main object of study of the work is the calculation of the dominant eigenvector of the sampled correlation matrix. This is achieved, in the bibliography that was studied, either by using the power method or with use of the SVD method (Singular Value Decomposition). Per snapshot of samples it is required to update the autocorrelation matrix and to calculate the dominant eigenvector. However, the above two methods for this calculation have an increased complexity because the dimension of the matrix is high enough. The contribution of this work lies in the reduction of that complexity by using an adaptive method for the dominant eigenvector calculation. Finally, this work also focuses on the problem of localization and tracking of the coordinates of placement of the dominant source from the estimates of the relative time delays of arrival.

The first eight chapters of this thesis describe a study of the magnetic effects of drilling on bore cores of sedimentary rocks. Extensive rock and palaeo- magnetic methods were used to investigate such effects in three collections of bore cores from the North Sea and Sellafield, U.K., and Prudhoe Bay, Alaska. It is evident that a drilling imposed remanent magnetisation (DIRM) resides in the North Sea and Prudhoe Bay bore cores which is characterised by symmetries in its intensity and direction relative to the core axis. Such DIRM correlated well with the theoretically modelled magnetic field at one end of a steel drill barrel. The DIRM intensity distribution also appeared to be correlated with variation in the radial remanence susceptibility (i.e. the capacity of remanence acquisition) in the North Sea and Prudhoe Bay cores and magnetic susceptibility in the North Sea cores. Simulation experiments of shock impact conducted on bore core materials suggests that shock/vibration of the drill barrel is the major process that is responsible for the radial variation in core magnetic properties. Titanomagnetite (including magnetite) and pyrrhotite are the major carriers of DIRM but there is no DIRM identified in bore cores in which hematite is the only ferromagnetic mineral. Chapter 9 describes a novel attempt in using fractal geometry to statistically depict the geomagnetic field reversal sequence. A fractal distribution is shown to occur for longer geomagnetic polarity intervals (> 0.28 Ma) in terms of a power law relationship between interval length and cumulative number for the last 158 Ma. A simulation study indicates that the deviation from the power law at shorter intervals (< 0.28 Ma) is caused by missing of short intervals due to the limit of resolving power. This is strongly supported by a fractal model (i.e. a Cantor set) introduced for relating the shortest polarity interval, the transition time and the fractal dimension. Normal and reversed polarity intervals have similar fractal dimensions, suggesting that there is no, statistically, fundamental difference between the two magnetic polarity states.

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Cette thèse s'intéresse à la génération, à l'utilisation et à l'évaluation des maillages hex-dominants, composés d'hexaèdres et de tétraèdres, dans la cadre de la simulation numérique par la méthode des éléments finis. Les éléments finis hexaédriques sont souvent préférés aux éléments tétraédriques car ils offrent un meilleur ratio entre précision et temps de calcul dans un certain nombre de situations. Cependant, si la génération automatique de maillages tétraédriques est aujourd'hui un domaine bien maîtrisé, ce n'est pas le cas de la génération de maillages hexaédriques alignés avec le bord, qui reste un problème largement ouvert. En l'absence de progrès significatifs, les approches actuelles se contentent de maillages hex-dominants afin de tirer parti des performances supérieures des hexaèdres et de la flexibilité géométrique des tétraèdres, qui rend possible le maillage automatique. Dans une première partie, nous développons des algorithmes robustes pour la génération de maillages hex-dominants à partir de champs de directions, notamment pour l'isolement et le remplissage des régions difficiles à mailler (singularités et autres dégénérescences). Dans la seconde partie, nous essayons de déterminer dans quelles situations et dans quelle mesure les maillages hexaédriques, et hex-dominants générés précédemment, sont plus intéressants que les maillages tétraédriques. Ceci implique spécifiquement d'étudier plusieurs manières d'effectuer des simulations par éléments finis avec les maillages hybrides, dont une approche où nous utilisons des contraintes de continuité pour maillages non-conformes. Pour mesurer l'influence du maillage sur l'approximation des solutions, nous proposons une nouvelle méthode d'échantillonnage pour calculer très efficacement des distances globales entre solutions éléments finis définies sur des domaines compliqués / This thesis focuses on generation, usage and evaluation of hex-dominant meshes, which are made of hexaehedra and tetrahedra, in the context of the finite element method. Hexahedron finite elements are often preferred to tetrahedron elements because they offer a better compromise between accuracy and computation time in certain situations. However, if tetrahedral meshing is a well mastered subject, it is not the case of hexahedral meshing. Generating hexahedral meshes with elements aligned to the borders is still an open and difficult problem. Meanwhile, current automated approaches can use hex-dominant meshes in order to take advantage of both hexahedron accuracy and geometrical flexibility of tetrahedra. In the first part, we develop robust algorithms for the generation of hex-dominant meshes with elements aligned with the borders. Specifically, we propose a method to extract and fill the areas where hexahedral meshing is difficult (singularities and degeneracies). In the second part, we try to identify and to quantify the advantages of hexahedral and hex-dominant meshes over tetrehedral ones. This requires to study various ways to apply the finite element method on hybrid meshes, including one in which we propose to use continuity constraints on hexahedral-tetrahedral non-conforming meshes. To measure the impact of meshes on the finite element accuracy, we develop a new sampling method which allows to compute efficiently global distances between finite element solutions defined on complicated 3D domains

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A epilepsia do lobo temporal mesial (ELTM) é uma síndrome epiléptica de alta prevalência e de difícil controle medicamentoso. Cerca de 80% das cirurgias realizadas em centros de epilepsia são para tratamento desta síndrome. Do ponto de vista neuropsicológico, os pacientes portadores da ELTM podem apresentar prejuízos no processamento de memória declarativa, sejam elas de caráter verbal e/ou não-verbal, além de outras esferas da cognição. Normalmente, associam-se às queixas de memória, dificuldade de adaptação psicossocial e, consequentemente, piora na qualidade de vida. A reabilitação neuropsicológica tem demonstrado efeitos positivos como forma de tratamento para pacientes com lesões cerebrais de etiologias diversas. O presente estudo investigou os efeitos da reabilitação neuropsicológica no desempenho cognitivo, nas queixas de memória e sintomas de humor de 26 pacientes com ELTM clínica ou cirurgicamente tratados comparados a 14 indivíduos sem queixas neurológicas. De maneira geral, a reabilitação mostrou-se viável para pacientes com epilepsia independente do momento do tratamento: houve melhora na memória episódica auditivo-verbal, na aprendizagem, na fluência nominal, na intensidade das queixas de memória e nos sintomas depressivos. Mudanças semelhantes também foram observadas no grupo sem queixas neurológicas. Adicionalmente pode-se observar que a melhor resposta cognitiva após intervenção ocorreu no grupo com epilepsia cirurgicamente tratado, com melhora na maioria das variáveis cognitivas. / Temporal lobe epilepsy (TLE) is a high prevalence and drug resistant epileptic syndrome. Around 80% of surgeries performed at epilepsy centers aim this syndrome treatment. From the neuropsychological point of view, the patients with the TLE show declarative memory impairment, neither verbal and / or nonverbal processing and other cognitive failures. Usually, they are associated with memory complaints, difficulty in psychosocial adaptation and, consequently, worsening in quality of life. Neuropsychological rehabilitation has demonstrated positive effects as one of the treatments for patients with diverse brain injuries. The present study investigated the effects of neuropsychological rehabilitation on cognitive performance, memory complaints and mood symptoms of 26 TLE patients clinically or surgically treated compared to 14 individuals without neurological symptoms. Overall, rehabilitation proved to be feasible for patients with epilepsy regardless treatment timing: there was improvement in verbal episodic memory, learning, verbal fluency, memory complaints and depressive symptoms. Similar changes were also found in the group without neurological conditions. Additionally, the best cognitive response after intervention occurred in the group surgically treated, with improvement in most of the cognitive variables.