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En egen röst : En komparativ studie i karaktäriseringen av Madeleine Usher i Edgar Allan Poes och Bethany Griffins skräcklitteraturMatt, Caroline January 2015 (has links)
Denna uppsats innehåller en komparativ studie kring karaktäriseringen av den fiktiva figuren Madeleine Usher i Edgar Allan Poes 1800-tals novell "The Fall of the House of Usher" och Bethany Griffins re-telling av novellen i sin skräckroman The Fall, publicerad 2014. Syftet är att synliggöra hur Madeleine porträtteras och karaktäriseras ur ett genuskritiskt perspektiv med hjälp av bland annat Yvonne Hirdmans teori om genussystem och genuskontrakt, samt Maria Nikolajevas narratologiska teori om konvenansen kring litterärt kön. Utifrån denna analys ämnar jag tolka effekterna av Madeleine Ushers skilda subjektspositionering i verken, samt vilken kritik Griffins re-telling därigenom framför.
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Syndrome de Usher : outils innovants pour une exploration moléculaire exhaustive / Usher syndrome : advanced tools for a comprehensive molecular explorationBesnard, Thomas 05 December 2012 (has links)
Le syndrome de Usher est une maladie génétique associant surdité congénitale et rétinopathie pigmentaire (RP), auxquelles peuvent s'ajouter des troubles vestibulaires. Les différences phénotypiques, distinguées en 3 types cliniques, s'accompagnent d'une hétérogénéité génétique impliquant au moins 10 gènes. Identifier et caractériser les causes moléculaires grâce aux outils d'analyses génétiques disponibles permet d'améliorer la compréhension des mécanismes physiopathologiques à l'origine des symptômes du syndrome de Usher. Dans ce cadre, nous nous sommes inscrits dans une recherche d'exhaustivité des études moléculaires. Dans un premier temps, nous avons ainsi mis en place l'analyse et défini le spectre mutationnel des gènes minoritairement impliqués dans le type II (GPR98 et DFNB31). Nous avons également développé différents outils, notamment pour l'analyse de variants altérant le mécanisme d'épissage ou touchant les régions promotrices des gènes USH2.Ces travaux permettent d'obtenir un taux de détection des altérations conduisant au syndrome de Usher type 2 de 90 %. Ce taux est maintenant similaire à celui observé pour le type 1, qui constituait jusqu'ici la référence.Nous avons, dans un second temps, développé le séquençage nouvelle génération (NGS) appliqué à l'exome Usher. L'objectif de cette analyse était de tester la faisabilité et l'efficacité de cette approche, en vue de son éventuelle utilisation en diagnostic moléculaire. La définition des critères de qualité et la mise en place de la priorisation des variants ont été réalisées sur un groupe contrôle. L'étude a ensuite été étendue sur une cohorte de patients. Les résultats obtenus montrent qu'une utilisation en diagnostic est possible mais restera dépendante de l'amélioration de la technique du séquençage, de son analyse et des outils bioinformatiques pour interpréter le volume de données ainsi généré. / Usher syndrome is a genetic disorder combining sensorineural hearing loss (HL) and retinitis pigmentosa (RP). Some patients will also exhibit vestibular areflexia (VA). Clinical and genetic heterogeneity is recognized as the 3 clinical subgroups, defined mainly on the degree of HL and VA, can be caused by mutations in one of the 10 known genes. It is important to use all accessible genetic tools to identify and characterize molecular origin in order to improve the knowledge of the physiopathological mechanisms causing Usher Syndrome.In this context, we have developed an exhaustive approach. In a first step, we have implemented the analysis and established the mutational spectrum of the 2 minor USH2 genes (GPR98 and DFNB31). In addition, we have developed several tools, in particular to study variants susceptible to alter splicing or lying in the promoter regions of the USH2 genes.Thanks to this work, the USH2 mutation detection rate has now been raised to 90%, similar to that of USH1.We have then designed a targeted exome of the Usher genes to be sequenced using the GS Junior system (Roche 454). The aim of the study was to test the feasibility of this new technics for a possible transfer to diagnostic facilities. Quality criteria and variant priorization were set up on a control cohort (previously studied in one of the USH gene). The study has then been extended on a patient cohort. Our results indicate that NGS Usher-exome can be used in molecular diagnostics but improvement of the reliability of the sequencing technology, bioinformatics tools and dedicated databases is essential.
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Le système CupE de la voie chaperonne - "usher" de Pseudomonas aeruginosa : assemblage, fonction et régulation. Identification du système à deux composants PprA-PprB et caractérisation de son régulonGiraud, Caroline 13 July 2011 (has links)
La bactérie à Gram négatif Pseudomonas aeruginosa est un pathogène opportuniste possédant de nombreux systèmes moléculaires contribuant à sa pathogénicité et à son développement selon un mode de vie en biofilm, qui permet une meilleure résistance aux défenses de l’hôte et aux antibiotiques. Parmi ces systèmes, on retrouve les fimbriae assemblés par la voie chaperonne – « usher » (CU). La voie CU implique une protéine formant un pore dans la membrane externe, la protéine « usher », une chaperonne périplasmique et au moins une sous unité piline qui va être assemblée en fimbriae à la surface de la bactérie.Mon travail de thèse a principalement porté sur l’étude du cluster de gènes cupE, qui code pour un système CU du clade σ-fimbriae. Ce système est différent des quatre autres systèmes CU cupA – cupD déjà caractérisés chez P. aeruginosa et appartenant au clade γ4-fimbriae. Indépendamment des gènes codant la protéine « usher » et la chaperonne, ce cluster comprend quatre autres gènes qui codent pour des sous unités pilines atypiques (une piline majeure, deux pilines mineures et une adhésine). Nous avons montré que le système CupE est fonctionnel et permet l’assemblage de fimbriae à la surface de la cellule, assemblage (oligomérisation de la sous unité majeure en fimbirae) pour lequel nous avons montré que l’adhésine est essentielle, au contraire des deux sous unités mineures. Ces fimbriae jouent un rôle important dans la formation et la structuration du biofilm, tant à des étapes précoces que lors des étapes tardives. Excepté une piline mineure, tous les éléments de la fibre sont importants pour la formation du biofilm. Ce cluster de gènes est spécifiquement exprimé en conditions de formation du biofilm et par une approche de mutagenèse aléatoire par transposition, le système à deux composants (TCS) PprA – PprB a été identifié comme un régulateur positif potentiel de ce cluster. L’implication de ce TCS dans la régulation de cupE a été vérifiée et nous avons pu démontrer par des techniques de retard sur gel que ce contrôle est direct et que PprB se lie sur des boites putatives en amont du +1 de transcription de cupE défini par 5’-RACE PCR.Ce TCS ayant été identifié au préalable comme un régulateur positif de pili de type IVB Flp, eux-mêmes acteurs du biofilm chez P. aeruginosa, nous avons caractérisé le régulon du régulateur de réponse PprB. Parmi les nouvelles cibles régulées positivement par PprB, nous avons identifié deux cibles nouvelles dont nous avons débuté la caractérisation. La première est un opéron de quatre gènes codant pour un transporteur ABC impliqué dans la résistance aux antibiotiques spécifiquement en conditions de biofilm et pour une protéine de haut poids moléculaire, substrat potentiel de ce transporteur ABC. Cette protéine, que nous avons renommé AdhA, est effectivement sécrétée par le transporteur ABC et est impliquée dans la cohésion des cellules au cours de la formation du biofilm. Il s’agit d’une nouvelle adhésine participant à la structuration du biofilm chez P. aeruginosa. La seconde cible est un gène codant pour une protéine que nous avons renommée Hvn, homologue aux halovibrines HvnA et HvnB de Vibrio fischeri. Le sécrétome d’une souche délétée du gène hvn est considérablement modifié et son absence d’effet sur la morphologie des cellules eucaryotes par rapport au sécrétome de la souche PAO1 suggère que la protéine Hvn pourrait jouer un rôle dans la virulence de P. aeruginosa.Au travers de ce travail, nous avons caractérisé le système CupE de la voie CU chez P. aeruginosa et montré qu’il assemblait des fimbriae atypiques pouvant avoir un rôle dans les différentes phases de la formation du biofilm et qu’il était sous la régulation directe et positive du TCS PprA – PprB. [...] / The Gram negative opportunistic pathogen Pseudomonas aeruginosa is equipped with molecular systems that contribute to bacterial pathogenesis and biofilm development, this latter being associated with increased resistance to host defenses and antibiotics. Among them, are the fimbriae assembled by the chaperone usher (CU) pathway. The CU pathway involves a protein called the usher that forms a pore in the outer membrane, a periplasmic chaperone and at least one fimbrial subunit assembled into fimbriae at the cell surface.My PhD study mainly focuses on the cupE gene cluster, encoding a CU system from the σ-fimbrial clade. This system is different from all the CU systems cupA – cupD already characterized in P. aeruginosa, all belonging to the γ4-fimbrial clade. Independently from the genes encoding the usher and the chaperone, this cluster comprises four other genes encoding atypical pilins (one major pilin, two minor pilins and one adhesin). We showed that this CupE system is functional and allows the assembly of fimbriae at the cell surface. Unlike the two minor pilins, the adhesin is necessary for the fimbriae assembly (oligomerisation of the major subunit into the fiber). These fimbriae play an important role in biofilm formation and structuration, at early and late steps. Except one minor pilin, all subunits are important for the CupE-dependent biofilm formation. This gene cluster is specifically expressed in biofilm conditions and a random transposon mutagenesis allowed us to identify the two component system (TCS) PprA-PprB as an activator of cupE genes. We verified the implication of this TCS in cupE regulation and, using EMSA, we showed that the PprB control on cupE is direct, with PprB binding onto putative boxes upstream the transcription start of cupE, defined by 5’-RACE PCR.As this TCS was identified before as a positive regulator for the type IVB Flp pilus, another actor in the biofilm formation, we defined the PprB regulon. Among the new targets positively controlled by PprB, we found two new targets that we started to characterize. The first one is a four gene operon encoding an ABC transporter involved in antibiotic resistance specifically in biofilm conditions and a high molecular weight protein, a potential substrate for this ABC transporter. This protein that we renamed AdhA is indeed secreted by this ABC transporter and is implicated in the cohesion between cells during the biofilm formation. It is a new adhesin participating into the biofilm structuration of P. aeruginosa. The second target is a gene encoding a protein that we renamed Hvn, and homologous to HvnA and HvnB halovibrins from Vibrio fischeri. Secretome from an hvn mutant is highly modified and the lack of effect on eukaryotic cell’s morphology in comparison to the PAO1 secretome suggests the Hvn protein can play a role in P. aeruginosa virulence.Through this work, we characterized the cupE system from the CU pathway and showed that this system can assemble atypical fimbriae having a role in the different phases of biofilm formation. This system is under the positive and direct regulation of the TCS PprA – PprB.[...]
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Recursos pedagógicos acessíveis ao aluno com surdocegueira por síndrome de Usher : um estudo de casoCambruzzi, Rita de Cássia Silveira 25 February 2013 (has links)
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Previous issue date: 2013-02-25 / The objective of this work was to analyze the efficiency of visual adaptations in activities presented in the student with deafblindness with Usher syndrome and its impact on education. This research was developed in the city of Santa Catarina in a Basic Inclusive School where deaf education policy is performed in Elementary School in the first to ninth-grade and in High school. This is a case study for 12 year old preteen with deafblindness with Usher syndrome who studies in an Association of sensorineural deafness and acquired blindness as a result of Retinitis Pigmentosa. In the year 201, the student attended the 5th grade, in bilingual mode (only for deaf). In 6th grade (2012) in mixed class (with listeners). In the bilingual class the teacher, teaches in sign language as first language and the Portuguese, as second one. Already in the inclusive class the language used is Portuguese with the presence of an educational interpreter. It was used visual resources in the accessible instructional materials for the contents of the subjects. The bilingual students took advantage by the materials. Data collection consisted of the interview with the family, with the student, and the teacher. Also pre and post student s intervention with the application of functional vision instrument. Observations were conducted in different situations and in different spaces. The obtained results were analyzed qualitatively taking as a criterion the student s own performance analysis. The student makes use of sign language easily. He presented the first symptoms of Usher syndrome: dazzing in some situations which implied difficulty to adapt to bright; decreased peripheral vision and night blindness. In the process of perception of the difficulties he doesn t see as deafblind but like a deaf. During the collection of data it was observed signs of decrease in the peripheral vision, in the locomotion, and in the sign language when the colleague uses it in his side. The results suggest that the materials used in the classroom were mainly appropriate for the amplified material with 12 points to 20 or 20 points letters as gradual exposure in different sizes. The Times New Roman font was modified to the Arial font one and after to Verdana because the changes provided more suitable traits. The results indicate, therefore, that the accessible visual resources were used properly. However, there is no support of optical and non-optical resources by the institution on this new reality: the presence of the student with Usher syndrome, in the classroom, and his constitutional right is guaranteed. / O objetivo desse trabalho foi analisar a eficiência das adaptações visuais nas atividades apresentadas para o aluno com surdocegueira por Síndrome de Usher e seu impacto na escolarização. Essa pesquisa foi desenvolvida em uma cidade de Santa Catarina em uma Escola Básica Inclusiva onde a Política de Educação de Surdos, é executada no Ensino Fundamental da primeira a nona série e no Ensino Médio. Trata-se de um estudo de caso de um pré-adolescente 12 anos, com surdocegueira por Síndrome de Usher, que é uma associação de surdez neurossensorial e cegueira adquirida como consequência da Retinose Pigmentar. No ano de 2011 frequentou a 5ª série, na modalidade bilingue (somente surdos) e na 6ª série (2012) em turma mista (surdos e ouvintes). Na classe bilingue a professora, ministra as disciplinas em Língua de Sinais como primeira língua e o Português, como segunda. Já na classe mista a língua de instrução é o Português com a presença de um intérprete educacional. Utilizou-se de recursos visuais acessíveis nos materiais instrucionais nos conteúdos das disciplinas e aproveitados por todos os alunos da turma bilíngue. A coleta de dados constou de entrevista com a família, com o aluno e a professora, avaliação pré e pós - intervenção do participante com a aplicação do instrumento de Avaliação Funcional da Visão. Realizaram-se observações em diversas situações e em diferentes espaços. Os dados obtidos foram analisados qualitativamente tomando como critério para a análise o desempenho do próprio participante. Faz uso da Língua de Sinais com desenvoltura. Apresenta os primeiros sintomas da Síndrome de Usher: deslumbramento em algumas situações o que implica na dificuldade para adaptar-se à luz brilhante; diminuição da visão periférica e cegueira noturna. No processo de percepção das suas dificuldades não se vê como surdocego e sim como surdo. Durante a coleta de dados foi observado indícios de diminuição na visão periférica na locomoção e na leitura de Libras quando o colega usa língua de sinais ao seu lado. Os resultados sugerem que os materiais utilizados em sala de aula foram adequados principalmente na ampliação do material impresso com letras de 12 pontos para 20 ou 22 pontos, conforme exposição gradual a diferentes tamanhos. A fonte Times New Roman foi modificada para a fonte Arial e, posteriormente, para Verdana porque as mudanças proporcionaram traços mais adequados. Os resultados indicam, portanto, que os recursos visuais acessíveis foram utilizados adequadamente. Entretanto, não existe um apoio de recursos ópticos e não ópticos pela Instituição diante dessa nova realidade: a presença do aluno com Síndrome de Usher, na sala de aula, para que o seu direito constitucional seja exercido.
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Expression and function of Rab3 interacting molecules and clarin-1 in inner hair cellsOshima-Takago, Tomoko 12 March 2013 (has links)
No description available.
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Deafness in the genomics eraShearer, Aiden Eliot 01 May 2014 (has links)
Deafness is the most common sensory deficit in humans, affecting 278 million people worldwide. Non-syndromic hearing loss (NSHL), hearing loss not associated with other symptoms, is the most common type of hearing loss and most NSHL in developed countries is due to a genetic cause. The inner ear is a remarkably complex organ, and as such, there are estimated to be hundreds of genes with mutations that can cause hearing loss. To date, 62 of these genes have been identified. This extreme genetic heterogeneity has made comprehensive genetic testing for deafness all but impossible due to low-throughput genetic testing methods that sequence a single gene at a time.
The human genome project was completed in 2003. Soon after, genomic technologies, including massively parallel sequencing, were developed. MPS gives the ability to sequence millions or billions of DNA base-pairs of the genome simultaneously. The goal of my thesis work was to use these newly developed genomic technologies to create a comprehensive genetic testing platform for deafness and use this platform to answer key scientific questions about genetic deafness. This platform would need to be relatively inexpensive, highly sensitive, and accurate enough for clinical diagnostics.
In order to accomplish this goal we first determined the best methods to use for this platform by comparing available methods for isolation of all exons of all genes implicated in deafness and massively parallel sequencers. We performed this pilot study on a limited number of patient samples, but were able to determine that solution-phase targeted genomic enrichment (TGE) and Illumina sequencing presented the best combination of sensitivity and cost. We decided to call this platform and diagnostic pipeline OtoSCOPE®. Also during this study we identified several weaknesses with the standard method for TGE that we sought to improve.
The next aim was to focus on these weaknesses to develop an improved protocol for TGE that was highly reproducible and efficient. We developed a new protocol and tested the limits of sequencer capacity. These findings allowed us to translate OtoSCOPE® to the clinical setting and use it to perform comprehensive genetic testing on a large number of individuals in research studies.
Finally, we used the OtoSCOPE® platform to answer crucial questions about genetic deafness that had remained unanswered due to the low-throughput genetic testing methods available previously. By screening 1,000 normal hearing individuals from 6 populations we determined the carrier frequency for non-DFNB1 recessive deafness-causing mutations to be 3.3%. Our findings will also help us to interpret variants uncovered during analysis of deafness genes in affected individuals. When we used OtoSCOPE® to screen 100 individuals with apparent genetic deafness, we were able to provide a genetic diagnosis in 45%, a large increase compared to previous gene-by-gene sequencing methods.
Because it provides a pinpointed etiological diagnosis, genetic testing with a comprehensive platform like OtoSCOPE® could provide an attractive alternative to the newborn hearing screen. In addition, this research lays the groundwork for molecular therapies to restore or reverse hearing loss that are tailored to specific genes or genetic mutations. Therefore, a molecular diagnosis with a comprehensive platform like OtoSCOPE® is integral for those affected by hearing loss.
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Poe's Gothic Protagonist : Isolation and melancholy in four of Poe's worksWrangö, Johan January 2008 (has links)
This paper will argue that there are similarities between “The Raven”, “The Fall of the House of Usher”, “Ligeia” and “Berenice” in their treatment of the common motifs of isolation and melancholy, and, furthermore, that their protagonists are similar due to their relation to these two motifs. The paper will also argue that the usage of the motif of isolation is a strategic way for the author to emphasise the Gothic horror. In order to support my argument, I will, firstly, provide an outline of how melancholy, isolation and the Gothic were understood in the nineteenth century. Secondly, I will demonstrate ways in which the works are similar. By comparing the characters’ personalities and behaviour to each other, I will illustrate how melancholy and isolation are represented in similar ways in the works of this study. Thirdly, I will show how the motif of isolation reinforces the Gothic.
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Midnight drearies : three moods on Edgar Allan PoeDavis, Andrew Delamater 03 June 2013 (has links)
Edgar Allan Poe has long been considered one of the great writers in Gothic literature. His works, as he himself suggested in his essay “The Philosophy of Composition,” are intended to strike a unique balance between mainstream appeal and higher literary craft. In many ways, my goals as a composer are similar, not just in mitigating this often tenuous dynamic, but also in tapping into powerful emotional states. Poe is a master at creating moods, for instantly drawing the reader into his dynamic worlds. Many of his works spend a significant amount of time, sometimes paragraph upon paragraph as in the opening to The Fall of the House of Usher, simply detailing his specific vision of the story’s tenor. In this piece, I was interested in musically depicting the imagery, which Poe so eloquently writes. I have chosen three of Poe’s short stories: The Black Cat, The Pit and the Pendulum, and The Fall of the House of Usher. In each movement, I deliberately avoid any programmatic connection to the story, that is to say specific events in the music do not coincide with any actual depiction of an event within the intended story. Rather this piece examines and details the specific tone of each story. Midnight Drearies: Three Moods on Edgar Allan Poe was written for Dan Welcher and the University of Texas New Music Ensemble. / text
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Det desillusionerade sinnets sökande efter kunskap : En berättarteknisk studie av tre noveller av Edgar Allan PoeJanackovic, Valentina January 2014 (has links)
En berättarteknisk studie av "Ligeia", "The Tell-Tale Heart" samt "The Fall of the House of Usher". Studien fokuseras till kunskap respektive destruktivitet och dess funktion i de skilda novellerna. Genom att se till de berättartekniska aspekterna skapas en ny ingång till förståelsen för novellerna och en ny grund för en kompletterande motivanalys. De tre novellernas narrativa framställning och strukturella uppbyggnad skiljer sig men delar vissa gemensamma grepp vilket möjliggör för vidgad förståelse av novellerna.
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Poe's Gothic Protagonist : Isolation and melancholy in four of Poe's worksWrangö, Johan January 2008 (has links)
<p>This paper will argue that there are similarities between “The Raven”, “The Fall of the House of Usher”, “Ligeia” and “Berenice” in their treatment of the common motifs of isolation and melancholy, and, furthermore, that their protagonists are similar due to their relation to these two motifs. The paper will also argue that the usage of the motif of isolation is a strategic way for the author to emphasise the Gothic horror. In order to support my argument, I will, firstly, provide an outline of how melancholy, isolation and the Gothic were understood in the nineteenth century. Secondly, I will demonstrate ways in which the works are similar. By comparing the characters’ personalities and behaviour to each other, I will illustrate how melancholy and isolation are represented in similar ways in the works of this study. Thirdly, I will show how the motif of isolation reinforces the Gothic.</p>
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