394 research outputs found

    Clinical and Rehabilitative Management of Retinitis Pigmentosa: Up-to-Date

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    The term retinitis pigmentosa (RP) indicates a heterogeneous group of genetic rare ocular diseases in which either rods or cones are prevalently damaged. RP represents the most common hereditary cause of blindness in people from 20 to 60 years old. In general, the different RP forms consist of progressive photo-receptorial neuro-degenerations, which are characterized by variable visual disabilities and considerable socio-sanitary burden. Sometimes, RP patients do not become visually impaired or legally blind until their 40-50 years of age and/or maintain a quite acceptable sight for all their life. Other individuals with RP become completely blind very early or in middle childhood. Although there is no treatment that can effectively cure RP, in some case-series the disease’s progression seems to be reducible by specific preventive approaches. In the most part of RP patients, the quality of vision can be considerably increased by means of nanometer-controlled filters. In the present review, the main aspects of the routine clinical and rehabilitative managements for RP patients are described, particularly focusing on the importance of specific referral Centers to practice a real multidisciplinary governance of these dramatic diseases

    Clinical and Rehabilitative Management of Retinitis Pigmentosa: Up-to-Date

    Get PDF
    The term retinitis pigmentosa (RP) indicates a heterogeneous group of genetic rare ocular diseases in which either rods or cones are prevalently damaged. RP represents the most common hereditary cause of blindness in people from 20 to 60 years old. In general, the different RP forms consist of progressive photo-receptorial neuro-degenerations, which are characterized by variable visual disabilities and considerable socio-sanitary burden. Sometimes, RP patients do not become visually impaired or legally blind until their 40-50 years of age and/or maintain a quite acceptable sight for all their life. Other individuals with RP become completely blind very early or in middle childhood. Although there is no treatment that can effectively cure RP, in some case-series the disease’s progression seems to be reducible by specific preventive approaches. In the most part of RP patients, the quality of vision can be considerably increased by means of nanometer-controlled filters. In the present review, the main aspects of the routine clinical and rehabilitative managements for RP patients are described, particularly focusing on the importance of specific referral Centers to practice a real multidisciplinary governance of these dramatic diseases

    Metodologia para padronizar informações climáticas dos cenários futuros no banco de dados geográfico do projeto CLIMAPEST.

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    Estudos sobre os impactos das mudanças climáticas globais são importantes para atenuar seus possíveis impactos negativos. O objetivo deste trabalho foi desenvolver metodologia para padronizar as informações fornecidas pelos modelos climáticos globais do Quarto Relatório do IPCC (Painel Intergovernamental sobre Mudanças Climáticas), utilizando métodos de interpolação de dados a fim de que os planos de informação no banco de dados do SIG possuam as mesmas características de resolução espacial e limites geográficos

    Avaliação dos cenários futuros na região nordeste do Brasil utilizando modelos climáticos globais: tendências de temperatura.

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    O Nordeste é a região brasileira mais vulnerável ao aquecimento global. Os modelos climáticos globais são a melhor ferramenta para projetar cenários prováveis de alterações climáticas para o futuro, apesar da incerteza envolvida. O objetivo deste trabalho foi realizada uma avaliação da tendência da temperatura média nos cenários futuros previstos pelos modelos climáticos globais do IPCC para região Nordeste do Brasil. Foi realizada uma análise estatística básica dos dados de comparação entre os modelos. Foi possível agrupar os modelos em 5 grupos, desde modelos estimando temperaturas médias comparativamente inferiores em todos os meses a outros com valores superiores em todos os meses

    Significantly Longer Envelope V2 Loops Are Characteristic of Heterosexually Transmitted Subtype B HIV-1 in Trinidad

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    In Trinidad and the wider Caribbean, subtype B Human Immunodeficiency Virus-type 1 (HIV-1B) overwhelmingly accounts for HIV infection among heterosexuals; this contrasts with the association of HIV-1B with homosexual transmission and injecting drug use globally. The HIV envelope contains genetic determinants of cell tropism and evasion from immune attack. In this study we investigate the genetic properties of the env V1-C4 of HIV-1B soon after transmission to Trinidadian heterosexuals. This will reveal distinctive genetic features of the strains that cause the HIV-1B epidemic in Trinidad and generate insights to better understand their properties.Quasispecies sampling was performed on the env V1-C4 of HIV-1B strains soon after transmission to heterosexual Trinidadians in a cohort of seroconverters. Phylogenetic relationships were determined for these quasispecies and the length and number of asparagine (N) linked glycosylation sites (NLGS) in their variable loops compared to that for HIV-1B globally. Signature amino acids within the constant domains of the env V1-C4 were identified for heterosexually transmitted HIV-1B from Trinidad relative to HIV-1B globally. HIV-1B obtained from Trinidadian heterosexuals soon after seroconversion had significantly longer V2 loops with one more glycosylation site, shorter V3 loops and no significant difference in V1 or V4 when compared to HIV-1B obtained soon after seroconversion from infected individuals in the rest of the world. HIV-1B soon after seroconversion and during chronic infection of Trinidadians was not significantly different, suggesting that distinctly long V2 loops are characteristic of HIV-1B in Trinidad. A threonine deletion at position 319 (T319-) along with the substitutions R315K and S440R were found to be distinctly associated with HIV-1B from Trinidad compared to HIV-1B globally.This finding of distinctive genetic features that are characteristic of HIV-1B strains from Trinidad is consistent with the Trinidad epidemic being established by a founder strain or closely related founder strains of HIV-1B

    An overview of the first 5 years of the ENIGMA obsessive–compulsive disorder working group: The power of worldwide collaboration

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    Abstract Neuroimaging has played an important part in advancing our understanding of the neurobiology of obsessive?compulsive disorder (OCD). At the same time, neuroimaging studies of OCD have had notable limitations, including reliance on relatively small samples. International collaborative efforts to increase statistical power by combining samples from across sites have been bolstered by the ENIGMA consortium; this provides specific technical expertise for conducting multi-site analyses, as well as access to a collaborative community of neuroimaging scientists. In this article, we outline the background to, development of, and initial findings from ENIGMA's OCD working group, which currently consists of 47 samples from 34 institutes in 15 countries on 5 continents, with a total sample of 2,323 OCD patients and 2,325 healthy controls. Initial work has focused on studies of cortical thickness and subcortical volumes, structural connectivity, and brain lateralization in children, adolescents and adults with OCD, also including the study on the commonalities and distinctions across different neurodevelopment disorders. Additional work is ongoing, employing machine learning techniques. Findings to date have contributed to the development of neurobiological models of OCD, have provided an important model of global scientific collaboration, and have had a number of clinical implications. Importantly, our work has shed new light on questions about whether structural and functional alterations found in OCD reflect neurodevelopmental changes, effects of the disease process, or medication impacts. We conclude with a summary of ongoing work by ENIGMA-OCD, and a consideration of future directions for neuroimaging research on OCD within and beyond ENIGMA

    Normalising jurisdictional heterotopias through place branding : the cases of Christiania and Metelkova

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    This paper explores the political dimensions of place branding as a path to normalisation for areas where a paradoxical relationship with the law exists, places that we coin “jurisdictional heterotopias” borrowing from Foucauldian literature. We posit that place branding plays a fundamental role in facilitating scale jumping in the otherwise vertically aligned legal space, a hierarchy designed to exclude spatial multiplicity from its premise. By examining the role of place branding in such areas, we endeavour to understand and appreciate the selective application of the law, the perpetuation of unregulated and illegal activity, as well as the place – specificity of legal practice. Ultimately, we argue that strong place branding associations permit the engulfment of this type of heterotopias in the “mainstream” leading to their normalisation; such a normalisation results not only in the acceptance of their uniqueness by the institutional elements, but also in the potential nullification of the liberties their communities advocate
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