Submitted by Fernanda Rodrigues de Lima (fernanda.rlima@ufpe.br) on 2018-07-17T22:58:03Z No. of bitstreams: 2 license_rdf: 811 bytes, checksum: e39d27027a6cc9cb039ad269a5db8e34 (MD5) TESE Maria da Soledade Rolim do Nascimento.pdf: 1400781 bytes, checksum: 7f0d51ddf27f6ac90823410a26c0dc5d (MD5) / Approved for entry into archive by Alice Araujo (alice.caraujo@ufpe.br) on 2018-07-19T22:07:14Z (GMT) No. of bitstreams: 2 license_rdf: 811 bytes, checksum: e39d27027a6cc9cb039ad269a5db8e34 (MD5) TESE Maria da Soledade Rolim do Nascimento.pdf: 1400781 bytes, checksum: 7f0d51ddf27f6ac90823410a26c0dc5d (MD5) / Made available in DSpace on 2018-07-19T22:07:14Z (GMT). No. of bitstreams: 2 license_rdf: 811 bytes, checksum: e39d27027a6cc9cb039ad269a5db8e34 (MD5) TESE Maria da Soledade Rolim do Nascimento.pdf: 1400781 bytes, checksum: 7f0d51ddf27f6ac90823410a26c0dc5d (MD5) Previous issue date: 2017-02-22 / Introdução: A migrânea é um tipo de cefaleia frequente na população, de caráter crônico, incapacitante e cuja etiologia é associada a distúrbios neurovasculares. É caracterizada por severas dores de cabeça, com sintomas autonômicos e frequente sensibilidade a estímulos sensoriais, como a luz, som e odores. A análise deregistros eletroencefalo gráficos durante fotoestimulação associada a técnicas deneurocomputação, tais como coerência parcial direcionada, possibilita uma melhor compreensão acerca dos mecanismos do processamento visual nos pacientes com migrânea. O objetivo deste estudo foi analisar a conectividade funcional entre áreas corticais correspondentes à via dorsal de processamento visual (regiões occipital, parietal e frontal) nas pacientes com migrânea e quantificar a coerência parcial direcionada (CPD) após épocas de estimulação fótica. Tratou-se de um estudo transversal, observacional e descritivo. Métodos: Foram coletados registros eletroencefalográficos de doze mulheres com migrânea (migrânea com aura) e doze mulheres saudáveis (grupo controle), na faixa etária de 19-45 anos durante quatro períodos (épocas) de estimulação fótica, na frequência de 9Hz, na faixa gama do eletroencefalograma. Todas as participantes foram diagnosticadas clinicamente com migrânea, de acordo com a classificação da Sociedade internacional de cefaléia (International Headache Society - IHS). Posteriormente, os dados coletados foram analisados pelo método da coerência parcial direcionada (Sameshima; Baccalá, 1999), quantificando a conectividade funcional entre as áreas O-P-F: occipital (O1 ou O2), parietal (P3 ou P4) e frontal (F3 ou F4), com registros de ambos os hemisférios. Resultados: Quando comparado ao grupo controle, o grupo migrânea mostrou perfis diferentes de conectividade funcional entre a primeira e a quarta época de fotoestimulação. O hemisfério direito do grupo migrânea apresentou um relevante decréscimo nos valores de coerência parcial direcionada nas redes F4-O2 (Frontal - Occipital), F4-P4 (Frontal - Parietal), P4-F4 (Parietal-Frontal), estes achados podem ser sugestivos da existência de um hipofuncionamento da atividade cerebral como mecanismo protetivo no grupo das pacientes migranosas. No hemisfério esquerdo, o grupo migrânea apresentou um decréscimo dos valores na rede F3-O1. Conclusões: A atividade cortical do hemisfério direito e a conectividade funcional da rede F3-O1 no processamento visual nos sujeitos desta pesquisa demonstrou ser um biomarcador importante na compreensão da fisiopatologia da migrânea. / Introduction: Migraine is a frequent, chronic, disabling type of headache in the population and associated with neurovascular disorders. It is characterized by severe headaches, with autonomic symptoms and frequent sensitivity to sensory stimuli, such as light, sound and odors. The analysis of electroencephalographic records during photic stimulation associated with neurocomputing techniques, such as partial directed coherence (PDC) allows a better understanding of the mechanisms of visual processing in patients with migraine. The objective of this study was to analyze the functional connectivity between cortical areas corresponding to the dorsal visual processing pathway (occipital, parietal and frontal regions) in the patients with migraine and to quantify the PDC after periods of photic stimulation. Methods: Electroencephalographic records were obtained from twelve women with migraine (migraine with aura) and twelve healthy women (control group), aged 19-45 years during four periods (epochs) of photic stimulation, at the 9Hz frequency, in the gamma band of electroencephalogram. All participants were clinically diagnosed with migraine according to the International Headache Society (IHS) classification. Afterwards, the collected data were analyzed using the partial directed coherence method (Sameshima; Baccalá, 1999), quantifying the functional connectivity between the O-P-F areas: occipital (O1 or O2), parietal (P3 or P4) and frontal (F3 or F4) with records from both hemispheres. Results: When compared to the control group, the migraine group showed different profiles of functional connectivity between the first and fourth epochs of photic stimulation. The right hemisphere of the migraine group showed a significant decrease in the values of PDC in the F4-O2 (Frontal - Occipital), F4-P4 (Frontal - Parietal), P4-F4 (Parietal-Frontal) networks. These findings may be suggestive of a hypofunction of brain activity as a protective mechanism in the group of migraine patients. In the left hemisphere, the migraine group presented a decrease in the values in the F3-O1 network. Conclusions: The cortical activity of the right hemisphere and the functional connectivity of the F3-O1 network in the visual processing in the subjects of this research proved to be an important biomarker in the understanding of the pathophysiology of migraine.

Made available in DSpace on 2015-09-25T12:19:44Z (GMT). No. of bitstreams: 1 GilmaSerraGaldino.pdf: 463839 bytes, checksum: 9345eedc92400fc989d83f8fd6b1e4f1 (MD5) Previous issue date: 2006-12-12 / Doctors belonging to a Medical Services Cooperative in Campina Grande were interviewed with the objective to determine their diagnostic accuracy when faced with clinical cases of primary headache, and also to appreciate the amplitude of their knowledge about headache classification and procedures concerning exams prescriptions and therapeutic indications. Methodology. The method of extensive direct observation through the application of a questionnaire was used. The doctors were presented with three fictitious clinical histories which represented situations of frequent primary migraines such as: migraine with aura (MA), migraine without aura (MO) and chronic tensional-type headache (CTTH) according to criteria established on International Headache Classification, second edition (IHCD-II), 2003, by the Headache Classification Subcommittee as part of the International Headache Society (IHS). 173 out of 462 doctors members of the Cooperative were contacted and 91 of these accepted to take part in the study. Results. In the group of 91 doctors interviewed, 51 (56%) were male, 35 (38,5%) were female and five (5,5%) refused to answer. Their age varied from 27 to 70 years old (44,8 + 09 years old). Their experience as doctors varied from three to 46 years (21,4 + 8,2 years). 67 (73.6%) stated to have been in a medical internship. The doctors interviewed were doctors of several areas. About the accuracy of the diagnostic test, concerning MO, 60 participants (66%) identified the case as migraine, only two (2,2%) identified the MO subtype and two (2,2%) suggested it was a case of mere headache. For the clinical case of MA, 25 doctors (27,5%) said it was a case of migraine and only one (1,1%) identified it as MA. About the diagnostic of CTTH, 12 doctors (13,2%) acknowledged it as tensional headache and there was not any reference to the CTTH subgroup. Among other possibilities of diagnostic, the most mentioned ones were migraine 36 (39,6%), secondary headache to systemic arterial hypertension 12 (13,2%) and headaches caused by brain expansive process 06 (6,6%). For the three clinical cases, most of the doctors researched 79 (86,8%) in the example of MO, 74 (81,3%) in the cases of MA and 71 (78%) in the example of CTTH wouldn´t prescribe complementary exams. Regarding treatment 77 (84,6%) in the case of MO, 80 (87,9%) in the case of MA and 67 (73,6%) in the case of CTTH decided not to treat it. Among those who forwarded the case to a neurologist, we have 67 (73,6%) for MO, 78 (85,7%) for MA and 59 (64,8%) for CTTH. 65 (71,4%) doctors who were interviewed said to be unaware of the IHS diagnostic criteria for primary headaches. Conclusion. Migraine was the most common initial diagnosis for any kind of headache without any identification of the subgroups. The CTTH was subdiagnosed being frequently misidentified as migraine cases despite it is the most prevailing kind of primary headache. Most of the doctors interviewed (p<0,05) does not prescribe complementary exams for headache patients and prefer to forward them to a specialist, choosing not to treat them. These results show the lack of information found in the doctors interviewed about the diagnostic criteria for the several kinds of primary headaches. / Foram entrevistados médicos pertencentes a uma Cooperativa de Serviços Médicos, na cidade de Campina Grande, com o objetivo de investigar a acurácia diagnóstica desses profissionais frente a casos clínicos de cefaléia primária, além de apreciar seus conhecimentos sobre a classificação das cefaléias e condutas quanto à solicitação de exames e indicações terapêuticas. Metodologia: Utilizou-se o método de observação direta extensiva através da aplicação de questionário. Foram apresentadas a todos os médicos entrevistados três histórias clínicas, fictícias, reproduzindo quadros de cefaléias primárias freqüentes, a saber: migrânea com aura (MCA), migrânea sem aura (MSA) e cefaléia do tipo tensional crônica (CTTC), seguindo os critérios da Classificação Internacional das Cefaléias, 2ª. Edição (IHCD-II), em 2003, elaborados pelo Subcomitê de Classificação das Cefaléias da Sociedade Internacional de Cefaléia (IHS). Foram contatados 173 médicos, de um total de 462 cooperados, dos quais 91 aceitaram participar do estudo. Resultados: Eles eram 51 homens (56%) e 35 mulheres (38,5%), cinco (5,5%) não identificaram o gênero. A idade variou entre 27 e 70 anos (44,8 + 09 anos). Eles tinham entre três e 46 anos de formados (21,4 + 8,2 anos). 67 (73,6%) afirmaram ter feito residência médica. Os médicos entrevistados atuavam nas mais diversas especialidades. Em relação ao índice de acerto diagnóstico, no exemplo de MSA, 60 participantes (66,2%) identificaram o quadro como migrânea, enquanto apenas dois (2,2%) identificaram o subtipo MSA e dois (2,2 %) sugeriram tratar-se apenas de cefaléia. No caso clínico de MCA, 25 (27,5%) disseram tratar-se de quadro de migrânea e apenas um (1,1%) respondeu ser MCA. Quanto ao diagnóstico de CTTC, 12 (13,2%) reconheceram tratar-se de cefaléia tensional, não houve acerto diagnóstico no subgrupo CTTC, e dentre outras possibilidades diagnósticas as mais citadas foram: migrânea 36 (39.6%), cefaléia secundária a hipertensão arterial sistêmica 12 (13,2%) e cefaléias ocasionadas por processo expansivo cerebral seis (6,6%). Nos três casos clínicos, a maior parte dos profissionais pesquisados 79 (86,8%) no exemplo de MSA, 74 (81,3%) nos casos de MCA e 71 (78%) no exemplo de CTTC - não solicitaria exames complementares. Quanto ao tratamento: 77 médicos (84,6%) no caso de MSA, 80 (87,9%) no caso de MCA e 67 (73,6%) no caso de CTTC, optaram por não tratar. Preferiram encaminhar ao neurologista: 67 médicos (73,6%) para MSA, 78 (85,7%) para MCA e 59 (64,8%) para CTTC. 65 (71,4%) dos entrevistados afirmaram desconhecer os critérios diagnósticos da IHS para cefaléias primárias. Conclusão: O diagnóstico inicial mais freqüente foi migrânea, comumente usado para identificar qualquer tipo de cefaléia, sem, contudo identificar seus subgrupos. A cefaléia do tipo tensional foi subdiagnosticada, freqüentemente sendo confundida com quadros de migrânea, a despeito de ser o tipo mais prevalente de cefaléia primária. A maioria (p<0,05) dos médicos não solicita exames complementares para portadores de cefaléia e prefere encaminhá-los ao especialista, optando por não tratar. Esses resultados demonstram a falta de informações por parte dos médicos entrevistados sobre os critérios diagnósticos para os diversos tipos de cefaléias primárias.

Orientador: Carlos Alberto Vidal França / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Educação / Made available in DSpace on 2018-07-24T23:09:07Z (GMT). No. of bitstreams: 1 Dias_VivianeFranca_M.pdf: 10201721 bytes, checksum: c6899cdb47818acfe175e9b55f680513 (MD5) Previous issue date: 1999 / Resumo: A ansiedade e a agressividade infantil tem sido objeto de muitos estudos, uma vez que tanto pais como educadores vêem-se muitas vezes envolvidos com tais problemas e verificam sua impotência na resolução dos mesmos. Ansiedade e agressividade parecem fazer parte do cotidiano das crianças, em maior ou menor grau. Neste trabalho, procurou-se determinar o papel da escola na minimização do problema, através de contribuições da Psicologia transpessoal. Como a Psicologia Transpessoal busca uma compreensão mais holística do psiquismo humano e uma aproximação entre o saber ocidental e o oriental, acreditamos que ela, por ser mais abrangente, seja capaz de oferecer valiosos subsídios para que se possa trabalhar com proposições holisticas em educação, utilizando-se técnicas de interiorização, concentração, relaxamento, etc., com o propósito de atenuar o problema, que se faz mais presente na população de baixa renda, pelo contexto em que ela vive, ou sobrevive. No trabalho de campo, para coleta de dados, a observação da criança nas situações propostas será o instrumento utilizado. Uma maquina de Kirlian tografará a aura dessas crianças antes e depois da aplicação das técnicas. Questionários serão distribuídos a professores, monitores, à direção e aos pais, visando à corroboração de todos no processo. Este trabalho, que tem sua fundamentação teórica na Psicologia Transpessoal, utilizará técnicas de yoga, aplicando técnicas respiratórias, de relaxamento, visualização criativa, ressaltando as virtudes da criança a fim de buscar uma integração entre mente, corpo a cosmos. Concluiremos esta pesquisa com a apresentação dos resultados obtidos e as inferências pedagógicas que surgirão no decorrer do processe. Os dados demonstrarão a eficácia, ou não, da abordagem transpessoal na tentativa de mudança de comportamento das crianças em questão / Mestrado / Psicologia, Desenvolvimento Humano e Educação / Mestre em Educação

How can one create an aura from a digital reproduction? According to researchers like Walter Benjamin (1936) this is not possible. However with todays technology and digitalmedia it is worth looking into how it would be possible.Museums are looking for ways to expand the experiences of their exhibitions with thehelp of digital media, but research into authenticity and aura in digital reproductions islimited. This research aims to answer if it is possible to create an aura from a digitalreproduction and in what way that would be done.

As information technology pervades our lives we have increasingly come to rely on these evermore sophisticated and ubiquitous items of equipment. Portability and the desire to be connected around the clock has driven the rapid growth in adoption of mobile devices that enable us to talk, message, tweet and inform at will, whilst providing a means to shop and administer bank accounts. These high value, high risk, desirable devices are increasingly the target of theft and improvement in their protection is actively sought by Governments and security agencies. Although forms of security are in place they are compromised by human reluctance and inability to administer them effectively. With typical users operating across multiple devices, including traditional desktop PCs, laptops, tablets and smartphones, they can regularly find themselves having a variety of devices open concurrently. Even if the most basic security is in place, there is a resultant need to repeatedly authenticate, representing a potential source of hindrance and frustration. This thesis explores the need for a novel approach to user authentication, which will reduce the authentication burden whilst providing a secure yet adaptive security mechanism; a so called Authentication Aura. It proposes that the latent security potential contained in surrounding devices and possessions in everyday life can be leveraged to augment security, and provides a framework for a distributed and cooperative approach. An experiment was performed to ascertain the technological infrastructure, devices and inert objects that surround individuals throughout the day. Using twenty volunteers, over a fourteen-day period a dataset of 1.57 million recorded observations was gathered, which confirmed that between 6am and 12pm a significant device or possession is in near proximity 97.84% of the time. Using the data provided by the experiment as the basis for a simulation of the framework, it suggests a reduction of up to 80.36% in the daily number of required authentications for a user operating a device once every 30 minutes, with a 10 minute screen lock in place. Examining the influence of location alone indicated a reduction of 50.74% in user interventions lowering the average from 32 to 15.76, the addition of the surroundings reducing this further to 13.00. The analysis also investigated how a user’s own authentication status could be used to negate the need to repeatedly manually authenticate and it was found that it delayed the process for up to 90 minutes for an individual user. Ultimately, it confirms that during device activation it is possible to remove the need to authenticate with the Authentication Aura providing sufficient assurance.

This essay deals with the valuation of art with a focus on the aura of artworks. Aura is a theory developed by art critic Walter Benjamin in the early 20th century, the aura is the ”presence”of an artwork and reflects the uniqueness and authenticity that disappears with reproduction. The questions posed to the material are whether the aura affects the economic value when valuing art and what the different factors are that influence the aura. The essay has a discourse theoretical focus where the concept of aura is central, a discourse theory deals with language and its meaning which can depend on the context. The study also draws on Benjamin's theories of the aura where the concept is a theoretical tool in analyses. An iconographic analysis and iconological interpretation has been made on selected artworks, which are then contextualized in a multilevel analysis to determine how much the aura of the work has influenced the economic value. The study shows that the aura influences the economic value and that it is an important part of the valuation process as it is influenced by uniqueness, artist and provenance.

No / Two different theories of migraine aura exist: In the vascular theory of Wolff, intracerebral vasoconstriction causes migraine aura via energy deficiency, whereas in the neuronal theory of Leão and Morison, spreading depression (SD) initiates the aura. Recently, it has been shown that the cerebrovascular constrictor endothelin-1 (ET-1) elicits SD when applied to the cortical surface, a finding that could provide a bridge between the vascular and the neuronal theories of migraine aura. Several arguments support the notion that ET-1¿induced SD results from local vasoconstriction, but definite proof is missing. If ET-1 induces SD via vasoconstriction/ischemia, then neuronal damage is likely to occur, contrasting with the fact that SD in the otherwise normal cortex is not associated with any lesion. To test this hypothesis, we have performed a comprehensive histologic study of the effects of ET-1 when applied topically to the cerebral cortex of halothane-anesthetized rats. Our assessment included histologic stainings and immunohistochemistry for glial fibrillary acidic protein, heat shock protein 70, and transferase dUTP nick-end labeling assay. During ET-1 application, we recorded (i) subarachnoid direct current (DC) electroencephalogram, (ii) local cerebral blood flow by laser-Doppler flowmetry, and (iii) changes of oxyhemoglobin and deoxyhemoglobin by spectroscopy. At an ET-1 concentration of 1 µM, at which only 6 of 12 animals generated SD, a microarea with selective neuronal death was found only in those animals demonstrating SD. In another five selected animals, which had not shown SD in response to ET-1, SD was triggered at a second cranial window by KCl and propagated from there to the window exposed to ET-1. This treatment also resulted in a microarea of neuronal damage. In contrast, SD invading from outside did not induce neuronal damage in the absence of ET-1 (n = 4) or in the presence of ET-1 if ET-1 was coapplied with BQ-123, an ETA receptor antagonist (n = 4). In conclusion, SD in presence of ET-1 induced a microarea of selective neuronal necrosis no matter where the SD originated. This effect of ET-1 appears to be mediated by the ETA receptor.

Made available in DSpace on 2016-08-10T11:06:51Z (GMT). No. of bitstreams: 1 VITOR FERNANDO PERILO VITOY.pdf: 811678 bytes, checksum: 8ef5ec4902d8389ee455adf34035f1fc (MD5) Previous issue date: 2012-12-13 / O presente trabalho propõe um estudo Hermenêutico e Fenomenológico da obra Pauliceia desvairada de Mário de Andrade, publicada pela primeira vez em 1922, tratando de temas que relacionam a poesia, o fazer artístico, A Metalinguagem e a perda da aura, um traço marcante nas criações modernistas. A obra apresenta uma relação íntima entre arte-artista-leitor em sua comparação metalinguística. Esta dissertação é, portanto, uma forma de apontar a genialidade do criador, ao iniciar sua obra com o Prefácio Interessantíssimo, uma dedicatória dissimulada do eu - poético para o autor. A desordem da linguagem do caos, entre o passado, o futuro e as formas poéticas da modernidade, a verdadeira arte do contraponto. O desvairismo é justamente a nova arte moderna cheia de conflitos. Nesta linha de raciocínio, utilizamos obras importantes como A Estrutura da Lírica Moderna, de Hugo Friedrich, As Vanguardas Europeias de Gilberto Mendonça Teles, A Metalinguagem, de Samira Chalhub, a perda da aura com Walter Benjamin e a Estética da Recepção e Teoria do Efeito de Wolfgang Iser e Hans Robert Jauss. Ressaltamos que A proposta feita pelo eu - poético em sua obra é o sentir, para depois pensar.

Migraine is a common, debilitating neurovascular disease charactensed by severe recurrent headache, nausea and vomiting, photophobia and phonophobia. It is clinically diagnosed based on criteria specified by the International Headache Society (IHS), defining two major classes of migraine: migraine with aura (MA) and migraine without aura (MO) MA sufferers experience neurovascular disturbances that precede the headache phase of an attack. Although migraine is partly influenced by environmental determinants, there is a significant genetic component, with disease heritability estimated to be up to 60% and mode of transmission multifactorial. The disorder is common with a large Dutch study reporting lifetime prevalence estimates of 33% in women and 13.3% in men, with an earlier study estimating 24% of women and 12% of men in the overall population. Mutations in various ion channel genes are responsible for neuromuscular and other neurological disorders. Inherited ion channel mutations or 'channelopathies' are increasingly found to be the cause of various neurological disorders in humans. In familial hemiplegic migraine (FHM), a rare subtype of migraine with aura, mutations in the CACNA1A gene (localised at C19p13) have been fbund (FHM1). This gene codes for the alphalA subunit of the neuronal voltage-dependent P/Q-type calcium channel. Recently a second gene, ATP1A2 (FHM2) (localised at C1q23), was implicated in some EHM families. The ATP1A2 ion channel gene, codes for the alpha2 subunit of the Na+, K+ ion ATPase pump. These findings of mutations in these genes have focused attention on central nervous system ionic channels and helped to better understand EHM pathophysiology, where the best genetic evidence providing molecular insight into migraine still comes flom the mutations detected in the rare form of migraine with aura; FHM. Migraine family studies, at the Genomic Research Centre (GRC), have utilised linkage analysis methods in providing results that have indicated suggestive linkage to the FHM1-CACNA1A region on l9p13, in a large multigenerational family (Migraine Family 1; MEl) affected with typical migraine. Also linkage studies conducted within the GRC have implicated an additional susceptibility region on chromosome 1q31, but still not ruling out a second susceptibility region on C1q23, with the possibility of there being two distinct loci, on the chromosome lq region. The focus of research in this thesis is on two main chromosomal regions, which were tested for migraine susceptibility on chromosome 1 and chromosome 19. The research involved a cross-disciplinary approach utilising association, linkage and mutation screening approaches. Allelic candidate gene studies can provide a suitable method for locating genes of small effect that contribute to complex genetic disorders, such as migraine. Family linkage studies are useful for detection of chromosomal susceptibility regions and association studies are powerful when a plausible candidate gene and a sequence variant with potential functional relevance is examined. Mutation screening studies can indicate a direct cause of disorders such as migraine, where possible sequence variants may alter the translation of proteins in genes, causing the disease. The first gene exanted on chromosome 19 was that of the Low Density Lipoprotein Receptor (LDLR) gene. The LDLR gene is a cell surface receptor that plays an important role in cholesterol homeostasis. We investigated the (TA)n polymorphism in exon 18 of the LDLR gene on chromosome l9pl3.2 performing an association analysis in 244 typical migraine affected patients, 151 suffering from migraine with aura, 96 with migraine without aura and 244 unaffected controls. The populations consisted of Caucasians only and controls were age and sex matched. The results showed no significant difference between groups for allele frequency distributions of the (TA)n polymorphism even after separation of the migraine affected individuals into subgroups of MA and MO affected patients. This is in contradiction to Mochi et al, 2003 who found a positive association of this variant with MO. Our study discusses possible differences between the two studies and extends this research by investigating circulating cholesterol levels in a migraine affected genetically-isolated population. Another gene examined on chromosome l9pl3 was the insulin receptor gene (1NSR). The aim of this study was to investigate through direct sequencing the INSR gene in DNA samples from a migraine affected family previously showing linkage to chromosome l9pl3 in an attempt to detect disease associated mutations. The insulin receptor gene (INSR) on chromosome 19pl3.3-13.2 is a gene of interest since a number of SNPs located within the gene have been implicated in migraine with (MA) and without aura (MO). Six DNA samples obtained from non-founding migraine affected members of migraine family one (MF 1) were used in this study. Genomic DNA was sequenced for the 1NSR gene in exons 1-22 and the promoter region. In the six migraine family member samples, previously reported single nucleotide polymorphisms (SNP5) were detected within two exonic DNA coding regions of the INSR gene. These SNPs, in exon 13 and 17, do not alter the normal INSR polypeptide sequence. In addition, intron 7 also revealed a DNA base sequence variation. For the 5' untranslated promoter region of the gene, no mutations were detected. In conclusion, this study detected no INSR mutations in affected members of a chromosome 19 linked migraine pedigree. Hence, migraine linkage to this chromosomal region may involve other candidate genes. The NOTCH3 gene on C19p13.2-p13.l has previously been shown to be a gene involved in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and may also be implicated in migraine as there are some symptom similarities between the two disorders. The TNFSF7 gene localised on Cl9pl3 is homologous to the ligands of the TNF receptor family, including TNF-alpha and TNF-beta, genes that have both been previously associated with migraine. This study investigated the migraine susceptibility locus at Cl9p13 studying two genes that may be involved in the disorder. The NOTCH3 gene was analysed by sequencing all exons with known CADASIL mutations in a family (MF1) that has previously been shown to be linked to Cl9pl3. The sequencing results for affected members of this pedigree proved to be negative for all known sequence variants giving rise to mutation causing amino acid changes for CADASIL. The direct sequencing results displayed that of a normal coding sequence for the NOTCH3 gene F or the TNFSF7 gene, this was investigated through SNP association analysis using a matched case-control migraine diagnosed population. Chi-square results showed non-significant P values across all populations tested against controls except for the MO subgroup which displayed a weak association with the TNFSF7 SNP (genotype, allele analysis P = 0.036, P = 0 017 respectively). Our results suggest that common migraine is not caused by any known CADASIL mutations in the NOTCH3 gene of interest however, the TNFSF7 gene displayed signs of involvement in a MO affected population, but, further studies are needed to confirm these results and to further explore a TNF receptor - migraine potential interaction. A final examination on chromosome 19 involved a case report of an extremely rare and severe form of migraine. As stated earlier Familial Hemiplegic Migraine (FHM) is a severe rare sub-type of migraine and gene mutations on chromosome 19 have been identified in the calcium channel gene CACNA1A (Cl9pl3) fOr FHM. Recently a gene mutation (S218L) for a dramatic syndrome originating from FHM, commonly named 'migraine coma', has implicated exon 5 of the CACNA1A gene. The occurrence of trivial head trauma, in FHM patients, may also be complicated by severe, sometimes even fatal, cerebral edema and coma occurring after a lucid interval. Hemiplegic migraine has also been found to be sporadic in which both forms share a similar spectrum of clinical presentations and genetic heterogeneity. The case report presented in this study enhances the involvement of the S218L CACNA1A mutation in the extremely rare disorder of minor head trauma induced migraine coma. It not only proves to be a powerful diagnostic tool in detecting cases of FHM head trauma induced coma but also for sporadic hemiplegic migraine (SHM) coma subjects. We conclude from this case study that the S218L mutation, in the CACNA1A calcium channel subunit gene, is involved in sporadic hemiplegic migraine (SHM), delayed cerebral edema and coma after minor head trauma. This thesis also involved analysis of chromosome 1 for migraine susceptibility, where FHM studies provided a foundation fOr common migraine research on chromosome 1. Studies have suggested that mutations in the CACNA1A gene on chromosome l9p cause FHM in only approximately 50% of affected pedigrees. The CACNAIA gene has previously been tested, within the Genomics Research Centre, in the common forms of migraine; however no new mutations or the FHM mutations were detected in these MA/MO affected samples. A second FHM susceptibility locus maps to chromosome 1q23 and mutations in the ATP1A2 gene have recently been implicated in two Cl-linked FHM pedigrees. As FHM is considered a rare and severe form of MA, it is possible that the chromosome 1q23 locus, and the ATP1A2 gene, may be involved in the common forms of migraine with (MA) and possibly without aura (MO). Also, we have previously reported evidence of linkage to microsatellite markers on chromosome 1q31 in a large pedigree affected predominately with MA, which suggests the possibility that there are two distinct loci for migraine susceptibility on chromosome 1. The objectives of this study were to extend our linkage analysis of chromosome lq microsatellite markers in predominantly migraine with aura pedigrees. Also, our aim was to test the novel FHM-2 ATP1A2 gene for involvement in these migraine affected pedigrees and a previous pedigree (Migraine Family 14; MF 14) showing evidence of linkage of markers to Clq31. This was performed by a chromosome 1 scan (31 markers) in 21 multiplex pedigrees affected mainly with MA. Also, the known FHM-2 ATP1A2 gene mutations were tested, by sequencing, fOr involvement in MA and MO in these pedigrees. Mutation screening by direct sequencing was also performed throughout the coding areas of the ATP1A2 gene in 3 MA individuals fiom MF14. The results of this study detected evidence for linkage in our migraine pedigrees at chromosome 1q23, to microsatellite markers spanning the ATP1A2 (FHM-2) gene. However testing of the known ATP1A2 gene mutations (for FHM) in migraine probands of pedigrees showing excess allele sharing was negative, with no mutations detected in these migraineurs. Sequencing of the entire coding areas of the gene through 3 MA affecteds from MF14, a pedigree showing significant linkage to this region, was also negative for mutations. In conclusion, this study reported that microsatellite markers on chromosome 1q23 show evidence of excess allele sharing in MA and some MO pedigrees, suggesting linkage to the common forms of migraine and the presence of a susceptibility gene in this region. The new FHM-2 (ATPIA2 gene) mutations reported by Fusco et al, 2003 do not cause migraine in probands of affected pedigrees showing excess allele sharing to markers in this genomic region. Also no mutations were detected in all exons of the ATP1A2 gene in 3 MA affected individuals from a large pedigree (MF14) showing linkage to this region. Investigation in this thesis continued on chromosome 1, with other genes being examined on C1q23, as well as the C1q31 region for a migraine susceptibility locus or gene. Previously in our laboratory, evidence for linkage was shown to migraine at C1q31 in one family predominantly affected with MA, with microsatellite markers in this region. The initial Cl study (above; ATP1A2 gene) has also provided evidence for linkage to the chromosome 1 locus 1q23, with evidence for excess allele sharing of markers in predominantly MA affected pedigrees. To further investigate both chromosome I loci, an investigation with six candidate genes that lie within the C1q23 and 1q31 regions through association analysis was undertaken. The results from this study reported non-significant chi-square results, showing P values greater than 0.05 across all SNPs (and a CA rpt) tested. An exception was the rs704326 SNP from exon 43 of the CACNA1E gene on C1q31. P values significantly less than 0.001 were obtained in the total migraine population and the MA subgroup, with similar frequency comparisons ascertained in both genotype and allele analysis. Examination through contingency table analysis of the CACNA1E flequency data indicated that the risk allele (A) was over-represented in the migraine group compared to the control group. Further comparison of the genotype data indicated a difference in frequency distributions (P less than 0 0001). Stratified analyses of migraine subtypes indicated that this association was specifically attributed to the MA subtype group. Odds ratios produced an OR of 4.14 with a 95% CI of 2.36 - 7.26 (P less than 0.0001). The positive association results obtained within the CACNA1E gene are interesting in the fact that FHM is considered to be a rare and severe form of migraine with aura (MA) and FHM-1 is caused by mutations contained within the calcium channel gene CACNA1A (localized at Cl9p13). The idea that FHM and specifically an FHM gene in the C1q31 genomic region may also contribute to susceptibility to the more common forms of migraine i e. migraine with aura, strongly supports and reinforces the idea that a common defective gene may be influencing both FHM and typical migraine. In conclusion, this thesis undertook a cross-disciplinary approach to genetic research of a complex disorder. The research involved linkage, association and mutation analysis strategies of migraine. This research implicated a specific variant on chromosome 1 and further supported the heterogeneic nature of migraine. Future directions into migraine research should involve further investigation of this specific variant and this genomic region. Such studies may aid in the development of more precise diagnosis and treatment methods for this complex disorder.

La narration d'une pratique s'ébauche parfois par la présence d'une simple lettre, comme un humble point dévoile l'existence d'une ligne. Le "e" réapparaît au sein du dessin, le pare d'une multiplicité de significations, lui donne le poids perdu ou jamais acquis d'une esquisse autonome.La tradition du dessein se questionne par le biais d'un phénomène, dessiner la lumière, à l'heure d'une reproductibilité technique exacerbée.Le chemin sinueux emprunté par le dessin le mène au franchissement de frontière pléthorique, annonçant sa transversalité. Le mouvement immanent à la matière utilisée et l'hybridation comme notion intrinsèque à la création actuelle, toujours au service de l'élément graphique, vont faire opérer au dessin de nombreux déplacements intra et interdisciplinaires - conviant origines, idées, concepts et procédés techniques - mais aussi physiques. La réalisation de la lumière produite par l'expérience graphique, ses passages entre visible et non visible, se retrouve dans le signe et dans l'indice photographique et interroge la perception. La recherche de luminosité et de contraste, souvent traduites par la présence de noirs et de blancs, offre à l'espace plastique une palette infinie de possibles variations.Cette potentialité exhaustive requiert l'ultième acte du processus créatif, le choix, façonnant la mise en espace de la lumière en de multiples compositions graphiques.Le jeu, la phantasia et la poétique du phénomène lumineux, malgré l'évolution des procédés techniques employés, préservent la confidence qui confère au dessin se caractère intime dans lequel se silhouette un onirisme, une manière de résister. Travailler la lumière aujourd'hui dans le secret d'un acte aveugle, aveuglé, aveuglant, problématise la notion d'authenticité induisant un rapport à l'aura toujours en valse-hésitation entre apparition et disparition face à sa perte auparavant annoncée. / The narrative outline of a practice is sometimes sketched by the presence of a simple letter, like a humble dot can reveal the existence of a line.The "e" appears again in the drawing, adorns it with a multiplicity of meanings, giving it the weight never acquired of an autonomous sketch. (There is distinction in French language between the words "dessein" and "dessin" which one I play). At a time of heightened technical reproducibility and through a phenomenon - drawing the Light - the ambition and its tradition question themselves.The Drawing, on a sinuous path, crosses some excessive borders/frontiers, announcing his "transversality". The movement immanent to the material used and the hybridization as an intrinsic concept of the actual creative process, always at the service of the graphic element, will push the Drawing in many directions within and across disciplines - inviting origins, ideas, technical concepts and processes - but also physical. The light produced by the graphic experience, movements between visible and invisible, can be found not only in the sign but also in the photographic index and questions our perception.The research forn brightness and contrast in shades, often with black and white tons, gives an infinite range of potential variations to the creative/esthetic space/arena. This exhaustive potential is threatened by the ultimate act of creativity : the choice, shaping the spatial dispositions of light into multiple graphic compositions.Despite certain technical processes and their evolution, play, phantasy and light phenomenon' poetics protecting the Drawing' secret : an intimate characteristic in which onirism, as a wayto resist, appears. Working with light today - in a secret of a blind act, blinded, blinding - questions the Authenticity as a concept, creating an uneasy relationship to the aura, always between appearance and disappearance facing its previously announced loss.