940 resultados para PROGRESSIVE MULTIFOCAL LEUKOENCEPHALOPATHY


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The increasing number of television channels, on-demand services and online content, is expected to contribute to a better quality of experience for a costumer of such a service. However, the lack of efficient methods for finding the right content, adapted to personal interests, may lead to a progressive loss of clients. In such a scenario, recommendation systems are seen as a tool that can fill this gap and contribute to the loyalty of users. Multimedia content, namely films and television programmes are usually described using a set of metadata elements that include the title, a genre, the date of production, and the list of directors and actors. This paper provides a deep study on how the use of different metadata elements can contribute to increase the quality of the recommendations suggested. The analysis is conducted using Netflix and Movielens datasets and aspects such as the granularity of the descriptions, the accuracy metric used and the sparsity of the data are taken into account. Comparisons with collaborative approaches are also presented.

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BACKGROUND: Schwannomas of the abducens nerve are extremely rare tumors. The tumor may be located within the cavernous sinus or more often at the prepontine region. However, literature research has identified only one case of isolated schwannoma of the orbit, arising from the terminal branches of the abducens nerve to the lateral rectus muscle. This is only the second report of an abducens nerve schwannoma located entirely intraconal. CASE DESCRIPTION: We report a case of an intraorbital abducens nerve schwannoma in a 42-year-old man with no signs of neurofibromatosis. The lesion resulted in progressive diplopia and focal abducens palsy. The clinical, radiologic, and pathologic features are presented. RESULTS: We point the particular aspects and discuss the possible treatments and approaches to preserve nerve function. CONCLUSIONS: Being a benign lesion, one of the goals has always been total removal. The knowledge of the correct anatomic features made us believe that the VI nerve function could be preserved. Our case is the first example of a total removal with eye abduction preserved. Because of that, we believe that it is reasonable to aim for these goals in future cases.

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presente relatório de qualificação profissional foi elaborado no âmbito da Unidade Curricular de Prática Pedagógica Supervisionada, inserida no plano de estudos do mestrado profissionalizante em Educação Pré-Escolar e Ensino do 1º Ciclo do Ensino Básico. Intenta evidenciar o desenvolvimento de competências pessoais e profissionais pela estudante nos níveis educativos já referenciados, visando a construção de um perfil docente generalista. Em primeiro lugar, fundamenta-se o desenvolvimento uma ação dotada de intencionalidade num quadro teórico-concetual, construído ao longo do percurso formativo da mestranda, nos normativos legais em vigor, nas características dos contextos educativos que integrou e nos conhecimentos sobre cada criança. Posteriormente, apresenta-se através de uma análise crítica e reflexiva, o desenvolvimento vivenciado pela discente ao longo dos períodos de estágio que visava promover a progressiva autonomia e responsabilização pela ação docente. A metodologia de investigação-ação foi fundamental na construção das bases do perfil profissional da mestranda pois alicerçou o desenvolvimento da práxis e estruturou os processos de observação, planificação, ação, avaliação e reflexão. Esta metodologia e as estratégias e instrumentos formativos que a integram e que se adotaram nos dois níveis educativos fomentaram a transformação e a melhoria da prática educativa, através do desenvolvimento de competências reflexivas, investigativas e indagadoras. O processo vivenciado promoveu simultaneamente o desenvolvimento da estudante e a construção de aprendizagens por parte das crianças, constituindo-se como a primeira etapa de uma aprendizagem ao longo da vida com vista à constante adaptação e transformação do conhecimento praxeológico.

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No âmbito do Mestrado em Educação Pré-Escolar e Ensino do 1.ºCiclo do Ensino Básico, desenvolveu-se o presente relatório de qualificação profissional, em que será analisada de forma reflexiva a Prática Pedagógica Supervisionada da mestranda, em contexto da Educação Pré-Escolar. O objetivo fulcral da desta intervenção em contexto educativo consistiu em promover a construção de aprendizagens que permitissem uma tomada de consciência do compromisso e responsabilidade atribuída ao Educador de Infância. A formanda teve oportunidade de desenvolver um perfil próprio enquanto futura Educadora de Infância, tendo como base as Orientações Curriculares para a Educação Pré-Escolar, num processo ativo de investigação-ação. Comparando a ação educativa da formanda em momentos iniciais do estágio, com momentos já mais avançados neste processo, reconhece-se uma evolução nas dimensões da observação, planificação, ação, reflexão e avaliação, que compõem o ciclo reflexivo da metodologia supracitada, evolução essa que resultou num progressivo desenvolvimento de competência profissionais. Durante a intervenção no contexto educativo, a formanda recorreu a estratégias e instrumentos de reflexão, nomeadamente os guiões de pré- observação, as planificações, as narrativas colaborativas, os diários de formação, as notas de campo e as reuniões com o Supervisor Institucional, a Educadora Cooperante e a díade de formação. A organização do ambiente educativo consistiu numa das preocupações da formanda, que procurou atender à necessidade de organizar de forma flexível o espaço, tempo e grupo.

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Background: Proteinuria (PT) with SRL appears not only after conversion from a calcineurin inhibitor (CI), but also in de novo patients. The PT may be related to a hemodynamic effect of CI withdrawal or to a direct effect of SRL in glomerulus (GL). Recently an association between PT in SRL patients and FSGS lesions has been described. It is also known that SRL decrease VEGF synthesis and experimental data suggest that VEGF is essential to podocyte survival and differentiation. Aim: To determine if glomerular lesions and PT in SRL patients could be related to altered glomerular VEGF expression. Material and methods: We evaluated glomerular VEGF expression in 10 biopsies: A-allograft kidney in backtable (n=3); B-native normal kidney (n=1); C-native kidney with FSGS lesions (n=2); D-allograft kidney with FSGS lesions from proteinuric patients under SRL after conversion from CI (n=3); E-allograft kidney in proteinuric patient under SRL with a membranous glomerulonephritis (n=1). We employed indirect immunohistochemistry in paraffin-embedded sections using a mouse monoclonal antibody against human VEGF-C1 (Santa Cruz). Results: The controls biopsies (A; B) showed normal global VEGF expression, with strong podocyte staining. The VEGF expression in the group C was similar to the controls, although no FSGS lesions were observed in the stained GL. The group D showed normal VEGF expression in the apparently normal GL, hypertrophied podocytes with reduction of VEGF in anomalous GL, and no staining in slcerotic lesions. We observed a gradual reduction of VEGF expression with progressive dedifferentiation of podocytes. In the group E the VEGF was globally reduced, with some hypertrophied podocytes expressing decreased VEGF. Conclusion: We confirmed the diminished VEGF expression in injured podocytes of SRL patients.This decreased expression may result from a direct effect of SRL and precede the appearance of FSGS lesions and PT. Further studies are needed with greater number of cases and controls, including early biopsies of patients under SRL.

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Introduction. Fabry disease is a rare metabolic disorder caused by the genetic deficiency of the lysosomal hydrolase alpha-galactosidase A, located on chromosome X. Females with the defective gene are more than carriers and can develop a wide range of symptoms. Nevertheless, disease symptoms generally occur later and are less severe in women than in men. The enzyme deficiency manifests as a glycosphingolipidosis with progressive accumulation of glycosphingolipids and deposit of inclusion bodies in lysosomes giving a myelinlike appearance. Patients and Methods. Records of renal biopsies performed on adults from 1st January 2008 to 31st August 2011, were retrospectively examined at the Renal Pathology Laboratory. We retrieved biopsies diagnosed with Fabry disease and reviewed clinical and laboratory data and pathology findings. Results. Four female patients with a mean age of 49.3±4.5 (44-55) years were identified. The mean proteinuria was 0.75±0.3 g/24h (0.4-1.2) and estimated glomerular filtration rate (CKD EPI equation) was 71±15.7 ml/min/1.73m2 (48-83). Three patients experienced extra-renal organ involvement (cerebrovascular, cardiac, dermatologic, ophthalmologic and thyroid) with distinct severity degrees. Leukocyte α-GAL A activity was below normal range in the four cases but plasma and urinary enzymatic activity was normal. Light microscopy showed predominant vacuolisation of the podocyte cytoplasm and darkly staining granular inclusions on paraffin and plastic-embedded semi-thin sections. Electron microscopy showed in three patients the characteristic myelin-like inclusions in the podocyte cytoplasm and also focal podocyte foot process effacement. In one case the inclusions were also present in parietal glomerular cells, endothelial cells of peritubular capillary and arterioles. Conclusion. Clinical signs and symptoms are varied and can be severe among heterozygous females with Fabry disease. Intracellular accumulation of glycosphingolipids is a characteristic histologic finding of Fabry nephropathy. Since this disease is a potentially treatable condition, its early identification is imperative. We should consider it in the differential diagnosis of any patient presenting with proteinuria and/or chronic kidney disease, especially if there is a family history of kidney disease.

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The authors report two cases of adrenal insufficiency secondary to infiltration of the adrenal glands by Paracoccidioides brasiliensis. The first patient had been treated for a chronic multifocal form of paracoccidiodomycosis 11 years ago. The diagnosis of the mycosis was done simultaneous with that of the adrenal insufficiency in the second patient. In both patients the diagnosis was done by direct visualization of fungus in adrenal biopsies. They were treated with hormonal supplements and itraconazol by 12 and six months, without relapses during the follow-up period.

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Introdução: Osíndrome de encefalopatia posterior reversível, ou PRES, é uma entidade clinico-radiológica associada a uma grande variedade de contextos clínicos, nomeadamente em idade pediátrica, com padrões imagiológicos mais típicos com envolvimento dos lobos parietais e occipitais mas também com outras formas imagiológicas, mais ou menos frequentes dependendo dos locais envolvidos (frontais e temporais, tronco cerebral, ganglios da base, cerebelo...). Objectivos: Apresentar formas de PRES em idade pediátrica com características imagiológicas infrequentes. Casos Clínicos: Apresentam-se os casos em duas jovens de sexo feminino, ambas com HTA grave e insuficiência renal, que se apresentaram com cefaleias intensas e uma delas com crises convulsivas, alteração do estado consciência e hemiparésia esquerda. Num dos casos a RM demonstrou um envolvimento extenso da medula e bulbo, apenas com uma pequena lesão parietal direita, com total reversão destas alterações em estudos de controle. No outro caso, a TC e a RM evidenciaram inúmeras lesões de edema com envolvimento multifocal de todos os lobos cerebrais e com múltiplas áreas hemorrágicas igualmente dispersas, desde micro-hemorragias a um hematoma mais volumoso, tendo-se constatado nos estudos de controle uma regressão parcial destas alterações. Conclusão: Apesar do envolvimento mais típico das regiões parietais e occipitais no PRES por lesões de edema vasogénico, padrões atípicos e infrequentes estão documentados e devem ser reconhecidos, incluindo-se nestes padrões o envolvimento predominantemente medular e a presença de múltiplas hemorragias.

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Introduction: Rhinoscleroma is a rare, chronic, granulomatous disease that most frequently affects the upper respiratory tract, especially the nasal cavity and sometimes extends through the lower respiratory tract. Is associated with Klebsiella rhinoscleromatis, which is endemic in certain geographic regions namely Central America. The pathogenesis and risk factors remain unclear. Clinical case: We report a five years Old Portuguese boy, previously healthy, brought to the Emergency Department with epistaxis, without other accompanying signs or symptoms. The Otorhinolaryngologist (ORL) performed rhinoscopy and identified an intranasal bleeding mass. The MRI revealed an intranasal mass with extension to the ethmoid bone sinus, and performed biopsy. The histopathology was vital, making the diagnosis of Rhinoscleroma. The child had traveled abroad for the first time on vacations a year before to Dominican Republic. The bacteriologic exam identified a Klebsiella spp. sensible to the association of amoxicillin and clavulanic acid. Blood test performed excluded association of immunodeficiency. Since it’s a rare disease genetic study are under course. Monthly evaluation by ORL and pediatrician was performed which documented progressive reduction until total disappearing of the macro and microscopic lesion, and negative bacteriologic exam. Six months of antibiotic therapy were completed without any known secondary effects. The child remained asymptomatic up to the last visit, 3 months following treatment and has shown no evidence of recurrence. Conclusion: Globalization and free transit of people to areas far from origin countries here some rare diseases are endemic brings a new challenge to modern medicine. Sometimes vacations bring more than memories.

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Introduction: Globoid cell leukodystrophy (Krabbe disease) is caused by a deficiency of the lysosomal galactocerebrosidase that results in progressive demyelination. The sole treatment is hematopoietic cell transplantation, which is only effective if performed before the onset of signs. In the absence of treatment, most children with early infantile Krabbe disease die within 2 years. Case Report: Female patient, first child of non-consanguineous parents, apparently normal till the fifth month of age when she presented with irritability, stiffness with clenched fists, developmental delay and feeding difficulties that progressed rapidly to failure to thrive, apathy, psychomotor regression, few spontaneous movements and spastic tetraparesis. Cerebral MRI showed extensive cerebral white matter abnormalities, relatively sparing the U-fibers, with a pattern of radiating stripes. Galactocerebrosidase activity in leukocytes and fibroblasts and molecular studies confirmed the diagnosis of Krabbe disease. After the rapid and regressive initial phase, she showed no further clinical progression of the disorder and although she did not grow she even showed regression of irritability and had a stable evolution and good visual contact until death over the age of 5 years. Comments: Our case shows that patients may have a stabilized form of disease and that a longer survival than described in the literature without transplant is possible in some patients.