920,366 research outputs found
Diplopia as presenting sign of Turcot syndrome
No full textTo describe a patient with diplopia who was diagnosed with Turcot syndrome.
A 10-year-old boy presented with a history of left-sided sixth and seventh nerve palsy. He underwent imaging of the brain and colon, a full ophthalmological and genetic work-up.
A 10-year-old boy was referred with combined left-sided sixth and seventh nerve palsy since 1 month without symptoms of raised intracranial pressure. BCVA was 6/6 in both eyes. Fundoscopy revealed bilateral, multiple, oval pigmented ocular fundus lesions (POFLs) in the 4 quadrants. These POFLs, together with the cranial nerve palsies raised the suspicion of Turcot syndrome, a familial neoplasia syndrome characterized by familial colorectal cancer and tumours of the central nervous system. Urgent MRI scan of the brain and stereotactic biopsy showed a primitive neuroectodermal tumour (PNET) at the pons. Coloscopy revealed multiple polyps. DNA analysis of the APC gene confirmed the clinical diagnosis of Turcot syndrome. The PNET was treated with combined radio- and chemotherapy. The patient underwent a prophylactic total colectomy as virtually all patients develop a carcinoma of the colorectal region if left untreated.
Although strabismus is not, diplopia in childhood is rare and seldom innocuous. It requires a prompt and thorough diagnostic evaluation, including thorough, dilated fundoscopy. The presence of POFLs combined with neurological symptoms suggestive of a brain tumour should alert the clinician of the possibility of Turcot syndrome. Recognition of this rare syndrome can lead to earlier diagnosis, which is vital for appropriate surveillance and early surgical intervention of the highly frequent neoplasias in Turcot Syndrome
Síndrome de turcot: Reporte de caso
No full textSe describe el caso de una paciente de 15 años con síndrome de Turcot. La paciente presentaba una masa que protruía por recto, la cual fue diagnosticada como adenoma túbulovelloso; simultáneamente presentaba masa cerebral con diagnóstico anatomopatológico de astrocitoma anaplásico grado 3. La historia clínica familiar mostró algunos parientes con cáncer de colon. Todos estos datos sugirieron síndrome de Turcot tipo 2, un trastorno raro en consulta hospitalaria. El diagnóstico y tratamiento de la paciente requirió acción multidisciplinaria. La baja frecuencia de este trastorno dificulta el buen diagnóstico del mismo, por lo que los estudios anatomopatológicos de casos que presenten la formación simultánea de procesos tumorales en colon y SNC deben ser un indicativo para el especialista.The case of a 15 year old patient with Turcot’s syndrome is described. The patient had a mass that protruded from the rectum, which was diagnosed as tubulovillous adenoma; simultaneously she was diagnosed with anaplastic astrocytoma Grade 3, a brain mass. Her family medical history shows that some family members have submitted in colon cancer. All these data suggest that patient had type 2 Turcot syndrome, a rare disorder in hospital consultation. The diagnosis and treatment of the patient required multidisciplinary action, the rarity of this disorder hinders the proper diagnosis of it, and so anatomicpathology studies of cases where the simultaneous formation of tumor processes, in colon and SNC, should be an indication for specialist
Usage pédagogique de la vidéo et vulgarisation scientifique : Entretien avec Laurent Turcot
No full textThis interview with Laurent Turcot aims to identify the way in which a teacher approaches video in his teaching activity as well as in a popularization activity intended for the general public on the YouTube platform. This interview focuses in particular on how Laurent Turcot came to video and discusses the design, writing, production and reception of his pedagogical/popularization video clips.Esta entrevista a Laurent Turcot tiene como objetivo identificar la forma en que un docente aborda el video en su actividad docente así como en una actividad de divulgación destinada al público en general en la plataforma de YouTube. Esta entrevista se centra en particular en cómo Laurent Turcot llegó al video y analiza el diseño, la escritura, la producción y la recepción de sus videoclips de divulgación.entretien avec Laurent Turcot vise à cerner la manière dont un enseignant aborde la vidéo dans son activité d’enseignement ainsi que dans une activité de vulgarisation à destination du grand public sur la plateforme YouTube. Cet entretien met l’accent sur la manière dont Laurent Turcot en est venu à la vidéo et aborde la conception, l’écriture, la réalisation et la réception de ses capsules vidéo à vocation pédagogique et de vulgarisation
Variations on the Author
No full text“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Síndrome de Turcot, um relato de caso: Turcot syndrome, a case report
No full textIntrodução: A síndrome da polipose intestinal associada a tumor cerebral é também conhecida como síndrome de Turcot. As manifestações intestinais nesta síndrome são idênticas àquelas encontradas na PAF, e os tumores do SNC nela descritos são frequentemente astrocitomas, glioblastomas e meduloblastomas. Apresentação do caso: paciente do sexo feminino, branca, com 16 anos de idade, que deu entrada em outubro de 1990, na Enfermaria do Serviço de Colon e Reto da Disciplina de Cirurgia do Aparelho Digestivo do HC, FMUSP, com queixa de tumoração na região anal há dois anos, acompanhada de sangramento. Havia sido submetida a hemorroidectomia há um ano. O exame colonoscópico mostrou pólipo séssil de 2cm localizado a 10cm do ânus. Discussão: A síndrome de Turcot é uma doença hereditária rara, caracterizada pela associação de polipose adenomatosa familiar, com tumores do sistema nervoso central. Os pólipos são as neoplasias mais comuns do trato digestivo, podem ser únicos ou múltiplos, hereditários ou adquiridos. Geralmente, são assintomáticos e podem ser diagnosticados por meio da retossigmoidoscopia, enema ou colonoscopia, através de um pólipo e seu estudo histopatológico. Conclusão: A importância da identificação precoce, do acompanhamento e aconselhamento de famílias que apresentam essa síndrome é de fundamental importância para o prognóstico e tratamento das lesões, visto que as modificações e reversões das estruturas genéticas que promovem a doença em específico ainda não são passíveis de reversão
A Challenging Treatment Decision for a Rare Association: Case Report of Familial Turcot Syndrome With Fistulizing Crohn’s Disease
No full textTurcot syndrome and fistulizing Crohn’s disease (CD) are two disease entities that are not usually associated with one another, particularly given the rarity of the former. This is a case of a pediatric patient with fistulizing CD treated with biologic therapy, who was later found to have Turcot syndrome. Management of this rare combination of diseases can present several challenges, as surgical options may be limited and chronic immunosuppression to treat CD may lead to accelerated progression of malignancy in Turcot syndrome. This unique case highlights the importance of weighing the risks and benefits involved in treating two disease entities that impact one another
Appropriate Similarity Measures for Author Cocitation Analysis
No full textWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
The construction of Karen Karnak: The multi-author-function
No full textThis thesis is situated within the comparatively recent developments of Web 2.0 and the emergence of interactive WikiMedia, and explores the mode of authorship within a Read/Write culture compared to that of a Read/Only tradition. The hypothesis of this study is that the role of the audience has become merged with the author, and as such, represents new functions and attributes, distinct from a more conventional concept of authorship, in which the roles of audience and author are more separate. Read/Write and participatory culture, as defined by this study, is focused on collaboration, and includes the influences of D.I.Y. culture, Open-Source practices and the production of text by multiple authors. Multi-authorship presents a re-thinking of several concepts which support the notion of the individual author, since the focus of multi-authorship is not on attribution and ownership of a finished text, but on the continued malleability of a text. Modes of multi-authorship, demonstrated in the use of the pseudonyms Alan Smithee and Karen Eliot, represent declarative authors whose names signify multiple origins, whilst concurrently indicating a distinct body of work. The function of these names form an important context to this study, since primary research involves the construction of an experimental mode of multi-authorship utilising WikiMedia technology and the interaction of thirty nine participants, who are invited to create a body of work under the collective pseudonym Karen Karnak. The data generated by this experiment is analysed using aspects of Michel Foucault's author-function to identify and determine power structures inherent in the WikiMedia context. The interplay of power structures, including concepts such as identity, ownership and the body of work, affect the resulting mode of authorship and contribute to the construction of Karen Karnak, suggesting further areas of research into the emerging multi-author
Dispelling the Myths Behind First-author Citation Counts
No full textWe conducted a full-scale evaluative citation analysis study of scholars in the XML research field to explore just how different from each other author rankings resulting from different citation counting methods actually are, and to demonstrate the capability of emerging data and tools on the Web in supporting more realistic citation counting methods. Our results contest some common arguments for the continued
use of first-author citation counts in the evaluation of scholars, such as high correlations between author rankings by first-author citation counts and other citation
counting methods, and high costs of using more realistic citation counting methods that are not well-supported by the ISI databases. It is argued that increasingly available digital full text research papers make it possible for citation analysis studies to go beyond what the ISI databases have directly supported and to employ more
sophisticated methods
Le choix du tout-à-l'automobile à Montréal (1953-1967) : un contexte propice à l’aménagement de l'échangeur Turcot
No full textEn l’espace d’une décennie, Montréal s’est durablement transformée. Du milieu des années 1950, où elle représente une ville développée certes, mais dépourvue d'autoroutes, à 1967, année de l’Exposition universelle, la métropole du Québec confirme son choix du tout-à-l’automobile. Le développement autoroutier qu’elle réalise à cette époque doit alors être en mesure de répondre aux besoins de la société à court comme à long terme. Ce réseau perdure toujours de nos jours.
Nous souhaitons décomposer la trame de cette période mouvementée afin de comprendre comment Montréal a pu adopter cette orientation aussi rapidement. Il est question d’aborder les éléments ayant permis de centraliser le thème de la circulation à Montréal. La réponse des autorités et la volonté de planifier la ville à long terme nous conduisent ensuite à une réalisation accélérée d’un réseau autoroutier métropolitain d’envergure dont l’échangeur Turcot représente l’aboutissement en 1967. Cette étude permet de mieux examiner l’histoire de ce projet autoroutier majeur qui a constitué un des symboles forts de la modernisation de Montréal et du Québec. L’échangeur Turcot construit dans les années 1960 est le fruit d’une conjoncture particulière, correspondant à des besoins et des attentes tout autre que ceux qui prévalent actuellement. Nous concluons ainsi en nous questionnant sur la construction actuelle du nouvel échangeur Turcot, et en affirmant qu’elle ne correspond peut-être pas aux besoins d’une métropole du XXIe siècle.Within a decade, Montréal was permanently transformed. From the mid-1950s, where it represented a developed city but was devoid of highways, to 1967, the year of the World Expo, Québec confirmed that its priority was the automobile. The motorway development realized at that time had to meet the short and long term needs of its society. This network still exists today.
It is necessary to analyze this time period to understand how Montréal adopted such a policy so rapidly. This thesis addresses the postwar elements central to Montréal’s policies which focused and brought to the forefront the theme of traffic circulation in the metropolis. The authorities' response to traffic, and their will to plan the city according to long-term needs, provoked a major metropolitan highway development that reached its pinnacle in 1967 with the accomplishment of the Turcot Interchange. Built in the 1960s, the Turcot Interchange was the result of a particular economic situation, a manifestation of the era’s needs and expectations. The analysis conducted in this thesis provides a thorough examination of the history of this major highway project, which was a strong symbol of Montréal and Québec’s modernization scheme. In recent years, this infrastructure project has been back in the limelight as projects for a new Turcot Interchange commenced in 2007, marking the second act of this space's revitalization and modernization. However, does this renewed Turcot Interchange correspond adequately to the needs of a modern twenty-first century metropolis
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