934 resultados para QUANTITATIVE GENETIC-ANALYSIS


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Thèse réalisée en cotutelle avec l'Institut d’études politiques d'Aix-en-Provence, École doctorale de Sciences Po, Programme doctoral en sciences de l’information et de la communication

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Objectif : Cette thèse a pour but de préciser les mécanismes neuropsychologiques de la douleur, de la régulation endogène de la douleur et de l'hypoalgésie induite psychologiquement (HIP) par la synthèse de près de trente ans de recherche imagerie cérébrale fonctionnelle. Méthodologie : Étant donné l'abondance des études sur le sujet et le manque d'intégration de leurs résultats, la technique de métaanalyse quantitative basée sur les coordonnées d'activation cérébrale fut privilégiée dans cette thèse, telle qu’implémentée dans l'algorithme ALE (Activation Likelyhood Estimate). Une force supplémentaire de cette thèse repose sur la rigueur du processus de sélection des articles. En effet, les études incluses dans les métaanalyses devaient satisfaire des critères stricts d'inclusion, ceci dans le but de favoriser la précision et la validité des conclusions subséquentes. Étude 1 : Le premier article visait à identifier les aires cérébrales impliquées dans la réduction de la douleur par des méthodes psychologiques d'interventions. Les articles retenus portent sur une variété de méthodes d'intervention, telles que le placebo, l'hypnose, la méditation, la perception de contrôle sur la stimulation douloureuse et l'induction d'émotions. Les résultats indiquent que l'HIP implique un vaste réseau d'activation qui comprend le cortex cingulaire antérieur, l'insula antérieure, les zones orbitofrontale et préfrontale latérale, ainsi que les régions pariétale, temporale et souscorticales. Ces activations reflèteraient l'implication des mécanismes neuropsychologiques cognitifs et émotionnels sous-tendent les interventions psychologiques ciblées par ces études, incluant la conscience de soi et la motivation. De plus, les divergences de patron d'activation entre les approches ont été explorées, notamment pour le placebo et la distraction. Étude 2 : Le deuxième article a identifié des patrons d'activations préférentiellement associés à la perception de la douleur, à l'HIP, ainsi que des activations communément associées à la douleur et l'HIP. Les résultats indiquent que 1) la perception de la douleur est associée à l'activation d'aires somatosensorielles et motrices, ce qui pourrait être le reflet de la préparation d'une action adaptative, 2) l'HIP est liée à l'engagement de régions préfrontales antéromédianes et orbitales, possiblement en lien avec des processus motivationnels et émotionnels, et 3) la douleur et l'HIP sont associés à l'activation d'aires préfrontales dorsolatérales, de l'insula antérieure et du cortex cingulaire moyen, ce qui pourrait refléter l'engagement spontané pendant la douleur de mécanismes endogènes de régulation descendante. Conclusion : Par ces études, cette thèse fait le point sur les mécanismes cérébraux impliqués différentiellement dans la perception de la douleur, dans sa régulation endogène et dans l'hypoalgésie induite psychologiquement.

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The purpose of the present study is to understand the surface deformation associated with the Killari and Wadakkancheri earthquake and to examine if there are any evidence of occurrence of paleo-earthquakes in this region or its vicinity. The present study is an attempt to characterize active tectonic structures from two areas within penisular India: the sites of 1993 Killari (Latur) (Mb 6.3) and 1994 Wadakkancheri (M 4.3) earthquakes in the Precambrian shield. The main objectives of the study are to isolate structures related to active tectonism, constraint the style of near – surface deformation and identify previous events by interpreting the deformational features. The study indicates the existence of a NW-SE trending pre-existing fault, passing through the epicentral area of the 1993 Killari earthquake. It presents the salient features obtained during the field investigations in and around the rupture zone. Details of mapping of the scrap, trenching, and shallow drilling are discussed here. It presents the geologic and tectonic settings of the Wadakkancheri area and the local seismicity; interpretation of remote sensing data and a detailed geomorphic analysis. Quantitative geomorphic analysis around the epicenter of the Wadakkancheri earthquake indicates suitable neotectonic rejuvenation. Evaluation of remote sensing data shows distinct linear features including the presence of potentially active WNW-ESE trending fault within the Precambrian shear zone. The study concludes that the earthquakes in the shield area are mostly associated with discrete faults that are developed in association with the preexisting shear zones or structurally weak zones

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Cerebral glioma is the most prevalent primary brain tumor, which are classified broadly into low and high grades according to the degree of malignancy. High grade gliomas are highly malignant which possess a poor prognosis, and the patients survive less than eighteen months after diagnosis. Low grade gliomas are slow growing, least malignant and has better response to therapy. To date, histological grading is used as the standard technique for diagnosis, treatment planning and survival prediction. The main objective of this thesis is to propose novel methods for automatic extraction of low and high grade glioma and other brain tissues, grade detection techniques for glioma using conventional magnetic resonance imaging (MRI) modalities and 3D modelling of glioma from segmented tumor slices in order to assess the growth rate of tumors. Two new methods are developed for extracting tumor regions, of which the second method, named as Adaptive Gray level Algebraic set Segmentation Algorithm (AGASA) can also extract white matter and grey matter from T1 FLAIR an T2 weighted images. The methods were validated with manual Ground truth images, which showed promising results. The developed methods were compared with widely used Fuzzy c-means clustering technique and the robustness of the algorithm with respect to noise is also checked for different noise levels. Image texture can provide significant information on the (ab)normality of tissue, and this thesis expands this idea to tumour texture grading and detection. Based on the thresholds of discriminant first order and gray level cooccurrence matrix based second order statistical features three feature sets were formulated and a decision system was developed for grade detection of glioma from conventional T2 weighted MRI modality.The quantitative performance analysis using ROC curve showed 99.03% accuracy for distinguishing between advanced (aggressive) and early stage (non-aggressive) malignant glioma. The developed brain texture analysis techniques can improve the physician’s ability to detect and analyse pathologies leading to a more reliable diagnosis and treatment of disease. The segmented tumors were also used for volumetric modelling of tumors which can provide an idea of the growth rate of tumor; this can be used for assessing response to therapy and patient prognosis.

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This study was undertaken to isolate ligninase-producing white-rot fungi for use in the extraction of fibre from pineapple leaf agriwaste. Fifteen fungal strains were isolated from dead tree trunks and leaf litter. Ligninolytic enzymes (lignin peroxidase (LiP), manganese peroxidase (MnP), and laccase (Lac)), were produced by solid-state fermentation (SSF) using pineapple leaves as the substrate. Of the isolated strains, the one showing maximum production of ligninolytic enzymes was identified to be Ganoderma lucidum by 18S ribotyping. Single parameter optimization and response surface methodology of different process variables were carried out for enzyme production. Incubation period, agitation, and Tween-80 were identified to be the most significant variables through Plackett-Burman design. These variables were further optimized by Box-Behnken design. The overall maximum yield of ligninolytic enzymes was achieved by experimental analysis under these optimal conditions. Quantitative lignin analysis of pineapple leaves by Klason lignin method showed significant degradation of lignin by Ganoderma lucidum under SSF

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El estudio realizado se basó en la aplicación de la metodología de investigación científica y el análisis exploratorio, cuantitativo de tipo descriptivo de corte transversal, utilizando análisis de relaciones de datos obtenidos en cada una de las IPS y relaciones de perfiles entre de la población atendida. El análisis de la información mostró que las barreras administrativas de acceso a los servicios de Gineco-Obstetricia existen en las IPS estudiadas, caracterizando fundamentalmente aspectos relacionados con la falta de registro de información en las historias clínicas de los pacientes, la falta de registro de la no asistencia de un paciente a una cita, la inexistencia de acciones registradas frente a la identificación e inscripción de la población objeto de control prenatal con clasificación del riesgo, el régimen de afiliación, la ocupación, las acciones correctivas por fallas en los servicios de salud, el registro de fallas en los servicios de salud y el nivel educativo. Es valiosa la información que es registrada en las historias clínicas, sin embargo las IPS que participaron en el presente estudio no le dan la importancia necesaria a las evidencias obtenidas, en especial frente a acciones correctivas. Las relaciones entre las variables como el número de embarazos, el número de controles prenatales, el número de abortos, las IPS, los perfiles de la población de pacientes, la falta de registro de la no asistencia de un paciente a una cita, la clasificación del riesgo, el número de partos, el estado civil, los grupos de edad, el nivel educativo, el registro de fallas, el registro de las acciones correctivas y la ocupación, permiten identificar barreras de acceso administrativas. Se realizó una entrevista a los líderes de los procesos de calidad o directores generales de las IPS que participaron en el presente estudio y se encontró que los parámetros de calidad son claros y que la información existe en diferentes proporciones y protocolos institucionales. No obstante, las IPS no aplican en su totalidad el modelo de los canones establecidos. Es necesario que las instituciones apliquen las normas de calidad en su totalidad lo que seguramente las llevará a lograr mejores resultados.

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La Fibrosis Quística es la enfermedad autosómica recesiva mas frecuente en caucásicos. En Colombia no se conoce la incidencia de la enfermedad, pero investigaciones del grupo de la Universidad del Rosario indican que podría ser relativamente alta. Objetivo: Determinar la incidencia de afectados por Fibrosis Quística en una muestra de recién nacidos de la ciudad de Bogotá. Metodología: Se analizan 8.297 muestras de sangre de cordón umbilical y se comparan tres protocolos de tamizaje neonatal: TIR/TIR, TIR/DNA y TIR/DNA/TIR. Resultados: El presente trabajo muestra una incidencia de 1 en 8.297 afectados en la muestra analizada. Conclusiones: Dada la relativamente alta incidencia demostrada en Bogotá, se justifica la implementación de Tamizaje Neonatal para Fibrosis Quística en Colombia.

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La Enfermedad de Pompe (EP) es un desorden metabólico caracterizado por la deficiencia de alfa-glucosidasa acida (GAA), una enzima que cataliza la hidrolisis de las uniones glucosidicas α-1.4 y α-1,6 de glucógeno. Esta deficiencia resulta en acumulación de glucógeno en todos los tejidos, especialmente en musculo esquelético. Los pacientes con EP muestran un gran espectro de fenotipos con respecto a la edad de inicio, progresión de la enfermedad, severidad y tasa de progresión a muerte. El curso clínico de la enfermedad es principalmente determinado por la naturaleza de las variaciones genéticas de GAA quellevan a diferentes grados de deficiencia enzimática. Hasta la fecha alrededor de 400 distintas variaciones en la secuencia de GAA han sido descritas, y en algunos casos la correlación genotipo-fenotipo no es claramente evidente. En este estudio se describe el primer análisis genético y clínico de pacientes colombianos con EP en 13 individuos afectados. La secuenciación directa del gen GAA, revelo ocho distintas mutaciones relacionadas con la etiología de EP incluyendo dos nuevas mutaciones missense c.1106T>C (p.Leu369Pro) y c.2236T >C (p. Trp746Arg). Estudios funcionales in vitro mostraron que los cambios estructurales conferidos por ambas mutaciones no inhiben la síntesis del precursor de GAA de 110 KD pero afectan el procesamiento y el transporte intra-celular de la proteína.

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Las reacciones alérgicas a medicamentos cutáneas severas (RAM) como el Síndrome Stevens Johnson (SJS) y la Necrólisis Epidérmica Tóxica (NET),caracterizadas por exantema, erosión de la piel y las membranas mucosas, flictenas, desprendimiento de la piel secundario a la muerte de queratinocitos y compromiso ocular. Son infrecuentes en la población pero con elevada morbi-mortalidad, se presentan luego de la administración de diferentes fármacos. En Asia se ha asociado el alelo HLA-B*15:02 como marcador genético para SJS. En Colombia no hay datos de la incidencia de estas RAM, ni de la relación con medicamentos específicos o potenciales y tampoco estudios de aproximación genómica de genes de susceptibilidad.

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Objetivo: investigar la agregación de autoinmunidad en familiares en primer grado (FPG) de probandos con Síndrome de Sjogren (SS) con poliautoinmunidad y autoinmunidad familiar. Metodología: estudio de corte transversal en el cual se incluyeron 14 familias de mujeres con SS. Se realizó un análisis genético a través del cálculo de riesgos relativos para cada enfermedad autoinmune (EAI). La agregación familiar se calculó para los FPG, teniendo en cuenta la prevalencia de la enfermedad en cada familia y en la población general. Resultados: Se analizaron un total de 112 individuos, con una media de edad de 51.7 años ± 12.9. Veintidós individuos de los FPG tuvieron al menos una EAI (28.2%). La prevalencia de poliautoinmunidad fue del 93% y 6.4% en probandos y FPG, respectivamente. Se observaron valores que soportaron la agregación familiar para varias EAIs, entre ellas púrpura trombocitopénica idiopática, granulomatosis con poliangeiitis, síndrome antifosfolipídico, lupus eritematoso sistémico y artritis reumatoide. Discusión: estos resultados indican que las EAIs se agregan entre familias con SS, sugiriendo un origen común entre ellas. La elección de fenotipos clínicamente relevantes representa una nueva aproximación a la medicina personalizada en autoinmunidad.

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RESUMO: A preocupação central desta pesquisa foi compreendermos qual o impacto da formação continuada Pró-Letramento na prática pedagógica do professor a partir das necessidades e desafios do cotidiano escolar. Buscamos conhecer o conceito que os sujeitos da pesquisa têm sobre formação continuada, abordando a mesma como elemento da prática docente, comparamos o cotidiano de sala de aula de professores que passaram pela formação Pró-Letramento com os que não tiveram acesso a essa formação. Com respeito à formação continuada a percebemos como um processo dinâmico, reflexivo, que combina uma variedade de possibilidades e modalidades de aprendizagens, em que o professor vai adequando a sua formação às exigências sociais, culturais, educacionais. A formação continuada se dá, por meio da reflexão sobre a própria prática profissional no processo de ação-reflexão-ação, adquirindo significado na medida em que desenvolve e promove os diversos saberes docentes. A pesquisa foi conduzida com 90 professores do Ensino Fundamental – Anos Iniciais -, com oito coordenadoras que acompanham pedagogicamente os professores sujeitos dessa pesquisa e a observação em sala de aula. Procedeu-se à aplicação de um questionário validado e adaptado aos professores e uma entrevista aos coordenadores. A análise dos dados quantitativos foi realizada por meio do programa SPSS; enquanto a análise dos dados qualitativos foi orientada pela análise de discurso. A pesquisa aponta para algumas conclusões no que se refere a importância da Formação Continuada Pró-Letramento, tendo em vista a mesma possibilitar mudanças na prática pedagógica e colaborara para formação de um professor reflexivo, ao mesmo tempo que abre espaço para novos questionamentos e novos estudos.ABSTRACT: The central concern of this research was to understand the impact of the continuing education pro-literacy teaching practice from the teacher‘s needs and challenges of every day school life. We tried to know the concept that the subjects have on continuing education, addressing it as part of teaching practice, we compared the daily classroom teachers who have gone through training with Pro-Literacy did not access to such training. With respect to continuing education perceive it as a dynamic, reflective, which combines a variety of possibilities and modalities oF learning, the teacher will tailoring the training requirements to social, cultural, educational. The continuing education takes place, through reflection on own practice in the process of action-reflection-action, acquiring significance in that it develops and promotes the various teacher‘s knowledge. The research was conducted with 90 elementary school teacher‘s – Early Years – with eight coordinators accompanying teacher‘s pedagogically subject of research and observation in the classroom. Proceeded to the application of a validated questionnaire and adapted to an interview with the teachers and coordinators. The quantitative data analysis was performed using SPSS, while the analysis of qualitative data was guided by discourse analysis. The research points to some conclusions regarding the importance of Continuing Education Pro- Literacy in order to enable the same changes in teaching practice and collaborated to form a reflective teacher at the same time it makes room for new questions and new studies.

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Este trabalho tem como principal objetivo estudar a relação entre o comprometimento organizacional e a satisfação no trabalho em voluntários pertencentes a diferentes organizações de terceiro sector da zona da Grande Lisboa. A amostra em estudo é constituída por 121 voluntários, com idades compreendidas entre os 12 e os 63 anos, de ambos os géneros e com habilitações literárias desde o 4ª ano ao ensino superior. No que concerne à metodologia, é utilizado um questionário que mede o comprometimento organizacional, elaborado por Allen e Meyer (1997) e um inventário sobre a satisfação global com trabalho proposto por Hackman e Oldham (1975). Na análise dos dados utilizou-se o programa estatístico SPSS. Os resultados obtidos confirmam a existência de uma relação entre o comprometimento organizacional e a satisfação global com o trabalho. De entre as dimensões do comprometimento organizacional, aquela que possui um melhor poder preditivo sobre a satisfação global com o trabalho é o comprometimento afetivo, sendo que quanto maior este último maior a satisfação com o trabalho. As implicações teóricas destes resultados são abordadas e discutidas.

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The aim of this study is to analyse the vascular flora and the local climate along an altitudinal gradient in the Lefka Ori massif Crete and to evaluate the potential effects of climate change on the plant diversity of the sub-alpine and alpine zones. It provides a quantitative/qualitative analysis of vegetation-environment relationships for four summits along an altitude gradient on the Lefka Ori massif Crete (1664-2339 m). The GLORIA multi-summit approach was used to provide vegetation and floristic data together with temperature records for every summit. Species richness and species turnover was calculated together with floristic similarity between the summits. 70 species were recorded, 20 of which were endemic, belonging to 23 different families. Cretan endemics dominate at these high altitudes. Species richness and turnover decreased with altitude. The two highest summits showed greater floristic similarity. Only 20% of the total flora recorded reaches the highest summit while 10% is common among summits. Overall there was a 4.96 degrees C decrease in temperature along the 675 m gradient. Given a scenario of temperature increase the ecotone between the sub-alpine and alpine zone would be likely to have the greatest species turnover. Southern exposures are likely to be invaded first by thermophilous species while northern exposures are likely to be more resistant to changes. Species distribution shifts will also depend on habitat availability. Many, already threatened, local endemic species will be affected first.

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The clouded leopard, Neofelis nebulosa, is an endangered semiarboreal felid with a wide distribution in tropical forests of southern and southeast Asia, including the islands of Sumatra and Borneo in the Indonesian archipelago [1]. In common with many larger animal species, it displays morphological variation within its wide geographical range and is currently regarded as comprising of up to four subspecies [2-4]. It is widely recognized that taxonomic designation has a major impact on conservation planning and action [5-8]. Given that the last taxonomic revision was made over 50 years ago [2], a more detailed examination of geographical variation is needed. We describe here the results of a morphometric analysis of the pelages of 57 clouded leopards sampled throughout the species' range. We conclude that there are two distinct morphological groups, which differ primarily in the size of their cloud markings. These results are supported by a recent genetic analysis [9]. On that basis, we give diagnoses for the distinction of two species, one in mainland Asia (N. nebulosa) and the other in Indonesia (N. diardi). The implications for conservation that arise from this new taxonomic arrangement are discussed.

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Fragaria vesca is a short-lived perennial with a seasonal-flowering habit. Seasonality of flowering is widespread in the Rosaceae and is also found in the majority of temperate polycarpic perennials. Genetic analysis has shown that seasonal flowering is controlled by a single gene in F. vesca, the SEASONAL FLOWERING LOCUS (SFL). Here, we report progress towards the marker-assisted selection and positional cloning of SFL, in which three ISSR markers linked to SFL were converted to locus-specific sequence-characterized amplified region (SCAR1–SCAR3) markers to allow large-scale screening of mapping progenies. We believe this is the first study describing the development of SCAR markers from ISSR profiles. The work also provides useful insight into the nature of polymorphisms generated by the ISSR marker system. Our results indicate that the ISSR polymorphisms originally detected were probably caused by point mutations in the positions targeted by primer anchors (causing differential PCR failure), by indels within the amplicon (leading to variation in amplicon size) and by internal sequence differences (leading to variation in DNA folding and so in band mobility). The cause of the original ISSR polymorphism was important in the selection of appropriate strategies for SCAR-marker development. The SCAR markers produced were mapped using a F. vesca f. vesca × F. vesca f. semperflorens testcross population. Marker SCAR2 was inseparable from the SFL, whereas SCAR1 mapped 3.0 cM to the north of the gene and SCAR3 1.7 cM to its south.