Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy

OBJECTIVE: To provide a detailed phenotype/genotype characterization of Bietti crystalline dystrophy (BCD). DESIGN: Observational case series. PARTICIPANTS: Twenty patients from 17 families recruited from a multiethnic British population. METHODS: Patients underwent color fundus photography, near-infrared (NIR) imaging, fundus autofluorescence (FAF) imaging, spectral domain optical coherence tomography (SD-OCT), and electroretinogram (ERG) assessment. The gene CYP4V2 was sequenced. MAIN OUTCOME MEASURES: Clinical, imaging, electrophysiologic, and molecular genetics findings. RESULTS: Patients ranged in age from 19 to 72 years (median, 40 years), with a visual acuity of 6/5 to perception of light (median, 6/12). There was wide intrafamilial and interfamilial variability in clinical severity. The FAF imaging showed well-defined areas of retinal pigment epithelium (RPE) loss that corresponded on SD-OCT to well-demarcated areas of outer retinal atrophy. Retinal crystals were not evident on FAF imaging and were best visualized with NIR imaging. Spectral domain OCT showed them to be principally located on or in the RPE/Bruch's membrane complex. Disappearance of the crystals, revealed by serial recording, was associated with severe disruption and thinning of the RPE/Bruch's membrane complex. Cases with extensive RPE degeneration (N = 5) had ERGs consistent with generalized rod and cone dysfunction, but those with more focal RPE atrophy showed amplitude reduction without delay (N = 3), consistent with restricted loss of function, or that was normal (N = 2). Likely disease-causing variants were identified in 34 chromosomes from 17 families. Seven were novel, including p.Met66Arg, found in all 11 patients from 8 families of South Asian descent. This mutation appears to be associated with earlier onset (median age, 30 years) compared with other substitutions (median age, 41 years). Deletions of exon 7 were associated with more severe disease. CONCLUSIONS: The phenotype is highly variable. Several novel variants are reported, including a highly prevalent substitution in patients of South Asian descent that is associated with earlier-onset disease. Autofluorescence showed sharply demarcated areas of RPE loss that coincided with abrupt edges of outer retinal atrophy on SD-OCT; crystals were generally situated on or in the RPE/Bruch's complex but could disappear over time with associated RPE disruption. These results support a role for the RPE in disease pathogenesis.

I0010 - Fita Betacam

Dimensão: 9,5x15,5 cm (fita) / 11x17 cm (caixa)

Re-evaluation of a reported increased micronucleus frequency in lymphocytes of workers occupationally exposed to formaldehyde

A replicate evaluation of increased micronucleus (MN) frequencies in peripheral lymphocytes of workers occupationally exposed to formaldehyde (FA) was undertaken to verify the observed effect and to determine scoring variability. May–Grünwald–Giemsa-stained slides were obtained from a previously performed cytokinesis-block micronucleus test (CBMNT) with 56 workers in anatomy and pathology laboratories and 85 controls. The first evaluation by one scorer (scorer 1) had led to a highly significant difference between workers and controls (3.96 vs 0.81 MN per 1000 cells). The slides were coded before re-evaluation and the code was broken after the complete re-evaluation of the study. A total of 1000 binucleated cells (BNC) were analysed per subject and the frequency of MN (in ‰) was determined. Slides were distributed equally and randomly between two scorers, so that the scorers had no knowledge of the exposure status. Scorer 2 (32 exposed, 36 controls) measured increased MN frequencies in exposed workers (9.88 vs 6.81). Statistical analysis with the two-sample Wilcoxon test indicated that this difference was not significant (p = 0.17). Scorer 3 (20 exposed, 46 controls) obtained a similar result, but slightly higher values for the comparison of exposed and controls (19.0 vs 12.89; p = 0.089). Combining the results of the two scorers (13.38 vs 10.22), a significant difference between exposed and controls (p = 0.028) was obtained when the stratified Wilcoxon test with the scorers as strata was applied. Interestingly, the re-evaluation of the slides led to clearly higher MN frequencies for exposed and controls compared with the first evaluation. Bland–Altman plots indicated that the agreement between the measurements of the different scorers was very poor, as shown by mean differences of 5.9 between scorer 1 and scorer 2 and 13.0 between scorer 1 and scorer 3. Calculation of the intra-class correlation coefficient (ICC) revealed that all scorer comparisons in this study were far from acceptable for the reliability of this assay. Possible implications for the use of the CBMNT in human biomonitoring studies are discussed.

World press photo 2012: a construção discursiva da Primavera Árabe

Dissertação apresentada à Escola Superior de Comunicação Social como parte dos requisitos para obtenção de grau de mestre em Jornalismo.

Diane Arbus: the wonderful wizard of odds or the poetics of the i (eye)

Diane Arbus‘ photographs are mainly about difference. Most of the time she is trying ‗[…] to suppress, or at least reduce, moral and sensory queasiness‘ (Sontag 1977: 40) in order to represent a world where the subject of the photograph is not merely the ‗other‘ but also the I. Her technique does not coax her subjects into natural poses. Instead she encourages them to be strange and awkward. By posing for her, the revelation of the self is identified with what is odd. This paper aims at understanding the geography of difference that, at the same time, is also of resistance, since Diane Arbus reveals what was forcefully hidden by bringing it into light in such a way that it is impossible to ignore. Her photographs display a poetic beauty that is not only of the ‗I‘ but also of the ‗eye‘. The world that is depicted is one in which we are all the same. She ―atomizes‖ reality by separating each element and ‗Instead of showing identity between things which are different […] everybody is shown to look the same.‘ (Sontag 1977: 47). Furthermore, this paper analyses some of Arbus‘ photographs so as to explain this point of view, by trying to argue that between rejecting and reacting against what is standardized she does not forget the geography of the body which is also a geography of the self. While creating a new imagetic topos, where what is trivial becomes divine, she also presents the frailty of others as our own.

Amplificação em imunohistoquímica: estudo comparativo de sistemas de polímeros

Desde o início da utilização da imunohistoquímica em anatomia patológica, um dos objetivos tem sido detetar as quantidades mais ínfimas de antigénio, tornando-o visível ao microscópio ótico. Vários sistemas de amplificação têm sido aplicados de forma a concretizar este objetivo, tendo surgido um grupo genérico de métodos simples e que apresentam uma amplificação superior: são os denominados métodos do polímero indireto. Tendo em conta a variedade de métodos disponíveis, o autor propõe-se a comparar a qualidade de quatro sistemas de amplificação, que recorrem ao método do polímero indireto com horseradish peroxidase (HRP). Foram utilizadas lâminas de diferentes tecidos, fixados em formol e incluídos em parafina, nos quais se procedeu à identificação de 15 antigénios distintos. Na amplificação recorreu-se a quatro sistemas de polímero indireto (Dako EnVision+ System – K4006; LabVision UltraVision LP Detection System – TL-004-HD; Leica NovoLink – RE7140-k; Vector ImmPRESS Reagent Kit – MP-7402). A observação microscópica e classificação da imunomarcação obtida foram feitas com base num algoritmo que enquadra intensidade, marcação específica, marcação inespecífica e contraste, num score global que pode tomar valores entre 0 e 25. No tratamento dos dados, para além da estatística descritiva, foi utilizado o teste one-way ANOVA com posthoc de tukey (alfa=0.05). O melhor resultado obtido, em termos de par média/desvio-padrão, dos scores globais foi o do NovoLink (22,4/2,37) e o pior foi o do EnVision+ (17,43/3,86). Verificou-se ainda que existe diferença estatística entre os resultados obtidos pelo sistema NovoLink e os sistemas UltraVision (p=.004), ImmPRESS (p=.000) e EnVision+ (p=.000). Concluiu-se que o sistema que permitiu a obtenção de melhores resultados, neste estudo, foi o Leica NovoLink.

O papel do/a educador/a de infância na integração de uma criança cujo português é língua não materna

Relatório apresentado à Escola Superior de Educação de Lisboa para obtenção de grau de mestre em Educação Pré-Escolar

Retratos de um Bairro : a fotografia como forma de comunicação

Trabalho de projeto apresentado à Escola Superior de Comunicação Social como parte dos requisitos para obtenção de grau de mestre em Audiovisual e Multimédia.

Reconstrução de Superfícies usando um Scanner 3D de Luz Estruturada

Ao longo dos últimos anos, os scanners 3D têm tido uma utilização crescente nas mais variadas áreas. Desde a Medicina à Arqueologia, passando pelos vários tipos de indústria, ´e possível identificar aplicações destes sistemas. Essa crescente utilização deve-se, entre vários factores, ao aumento dos recursos computacionais, à simplicidade e `a diversidade das técnicas existentes, e `as vantagens dos scanners 3D comparativamente com outros sistemas. Estas vantagens são evidentes em áreas como a Medicina Forense, onde a fotografia, tradicionalmente utilizada para documentar objectos e provas, reduz a informação adquirida a duas dimensões. Apesar das vantagens associadas aos scanners 3D, um factor negativo é o preço elevado. No âmbito deste trabalho pretendeu-se desenvolver um scanner 3D de luz estruturada económico e eficaz, e um conjunto de algoritmos para o controlo do scanner, para a reconstrução de superfícies de estruturas analisadas, e para a validação dos resultados obtidos. O scanner 3D implementado ´e constituído por uma câmara e por um projector de vídeo ”off-the-shelf”, e por uma plataforma rotativa desenvolvida neste trabalho. A função da plataforma rotativa consiste em automatizar o scanner de modo a diminuir a interação dos utilizadores. Os algoritmos foram desenvolvidos recorrendo a pacotes de software open-source e a ferramentas gratuitas. O scanner 3D foi utilizado para adquirir informação 3D de um crânio, e o algoritmo para reconstrução de superfícies permitiu obter superfícies virtuais do crânio. Através do algoritmo de validação, as superfícies obtidas foram comparadas com uma superfície do mesmo crânio, obtida por tomografia computorizada (TC). O algoritmo de validação forneceu um mapa de distâncias entre regiões correspondentes nas duas superfícies, que permitiu quantificar a qualidade das superfícies obtidas. Com base no trabalho desenvolvido e nos resultados obtidos, é possível afirmar que foi criada uma base funcional para o varrimento de superfícies 3D de estruturas, apta para desenvolvimento futuro, mostrando que é possível obter alternativas aos métodos comerciais usando poucos recursos financeiros.