Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation

Background: We and others have described the neurodegenerative disorder caused by G51D SNCA mutation which shares characteristics of Parkinson’s disease (PD) and multiple system atrophy (MSA). The objective of this investigation was to extend the description of the clinical and neuropathological hallmarks of G51D mutant SNCA-associated disease by the study of two additional cases from a further G51D SNCA kindred and to compare the features of this group with a SNCA duplication case and a H50Q SNCA mutation case. Results: All three G51D patients were clinically characterised by parkinsonism, dementia, visual hallucinations, autonomic dysfunction and pyramidal signs with variable age at disease onset and levodopa response. The H50Q SNCA mutation case had a clinical picture that mimicked late-onset idiopathic PD with a good and sustained levodopa response. The SNCA duplication case presented with a clinical phenotype of frontotemporal dementia with marked behavioural changes, pyramidal signs, postural hypotension and transiently levodopa responsive parkinsonism. Detailed post-mortem neuropathological analysis was performed in all cases. All three G51D cases had abundant α-synuclein pathology with characteristics of both PD and MSA. These included widespread cortical and subcortical neuronal α-synuclein inclusions together with small numbers of inclusions resembling glial cytoplasmic inclusions (GCIs) in oligodendrocytes. In contrast the H50Q and SNCA duplication cases, had α-synuclein pathology resembling idiopathic PD without GCIs. Phosphorylated α-synuclein was present in all inclusions types in G51D cases but was more restricted in SNCA duplication and H50Q mutation. Inclusions were also immunoreactive for the 5G4 antibody indicating their highly aggregated and likely fibrillar state. Conclusions: Our characterisation of the clinical and neuropathological features of the present small series of G51D SNCA mutation cases should aid the recognition of this clinico-pathological entity. The neuropathological features of these cases consistently share characteristics of PD and MSA and are distinct from PD patients carrying the H50Q or SNCA duplication.

Work placements in doctoral research training in the humanities: eight cases from translation studies

Research cooperation between academic and nonacademic institutions tends not to concern the humanities, where mutual financial rewards are mostly not in evidence. The study of eight nonacademic placements of doctoral researchers working on inter- lingual translation nevertheless indicates some degree of success. It is found that the placements lead to ongoing cooperation when the following conditions are met: 1) the nature of the placement is understood and relations of trust are established; 2) mutual benefits are envisaged; and 3) there are prior arrangements for receiving visiting researchers. A placement can be successful even when one of the last two factors is missing. Further, the measure of success for placements in the humanities should concern social and symbolic benefits, in addition to financial profits.

Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature

Oculoauriculovertebral spectrum (OAVS; OMIM 164210) is a complex condition characterized by defects of aural, oral, mandibular and vertebral development. The aetiology of this condition is likely to be heterogeneous; most cases are sporadic, however, familial cases suggesting autosomal recessive end autosomal dominant inheritance have been reported. In this study, we describe the clinical aspects of nine familial cases with evidence of autosomal dominant inheritance and compare them with reports in the literature. Interfamilial and intrafamilial clinical variabilities were observed in this study (reinforcing the necessity of careful examination of familial members). We suggest that oculoauriculovertebral spectrum with autosomal dominant inheritance is characterized mainly by bilateral auricular involvement and rarely presents extracranial anomalies. Clin Dysmorphol 18:67-77 (C) 2009 Wolters Kluwer Health | Lippincott Williams & Wilkins.

Prediction of the economic activity from the short and long-term interest rate differential: new evidences in Chile and the United States of America cases

The purpose of this work is to verify the stability of the relationship between real activity and interest rate spread. The test is based on Chen (1988) and Osorio and Galea (2006). The analysis is applied to Chile and the United States, from 1980 to 1999. In general, in both cases the relationship was statistically significant in early 80s, but a break point is found in both countries during that decades, suggesting that the relationship depends on the monetary rule follow by the Central Bank.

Do Different Models of Integration Affect Actual Integration? The Cases of France and Great Britain Revisited

Britain and France adapted two different integration models, namely assimilationist and multiculturalism to integrate their immigrants. These two big models of integration have distinctive characteristics to integrate immigrants. There is a general claim that multiculturalism model is the best for integrating immigrants in terms of actual integration, however, some argue the opposite, that French assimilationist model is ‘better off.’ This study examines these controversial claims by looking at the level to which immigrants are integrated in economic, social, political, cultural dimensions of integration and attitudes towards immigrants in Britain and France. Within a given theoretical framework, this study compares the overall competency level of immigrants’ integration in terms of actual integration between British multiculturalism model and French assimilationist model and validate that both these two big models of integration have reached a comparable level of integration and they do not have any decisive impact on actual integration.

L'image de l'homme noir dans "La rue Cases-Nègres" de Joseph Zobel

Étude de l'homme noir dans la littérature postcoloniale. Comment cet homme se voit-il dans le roman "La rue Cases-Nègres"?

Portals for microenterprises in rural area : two cases

Research has shown that microenterprises have ability to survive and grow with the support of portals that include eCcommerce. However, almost no research has demonstrated how it’s done and what support microenterprises want. Results of our study shows that the portals have to be improved to support the use of advanced ICT applications, make it usable to use, and give more time for core business for the participating microenterprises. We have seen that portals have to solve problem with the technical solution and the process of payment. The network building activities in the portals do not happen in such extent that we have expected based on previous research. If portals will get businesses to grow in microenterprises, we propose that in addition to providing access to advanced ICT applications need to climbs one step higher in the DTI ladder and create more of eCommerce to increase sales in a greater market. We also propose that portals which support cooperation between microenterprises in rural areas from different branches have the best chances to succeed in the future.

February 2010: United States Supreme Court Cases

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