A randomized trial of varenicline (Chantix) for the treatment of spinocerebellar ataxia type 3.

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Apontamentos sobre o ensino de paisagismo nos cursos de arquitetura e urbanismo da região sul do Brasil

This paper is about Landscape Architecture education in Architecture and Urbanism courses from a quantitative analysis of a set of information collected on courses in Southern Brazil. The selected variables - number and title of disciplines, discipline load, offer period; summary and basic bibliography - representing the essence of any discipline, allowed us to understand the scenery of this learning in most so authorized courses. Thus, by exposing the common aspects and specificities found in the region in two analytical axes - proposed content and offer features - this text promotes inquiries about the challenges of Landscape Architecture education in Brazil today.Este texto faz uma reflexão acerca do ensino de paisagismo nos cursos de arquitetura e urbanismo a partir da análise quantitativa de um conjunto de informações recolhidas sobre os cursos da Região Sul do Brasil. As variáveis selecionadas – quantidade e título das disciplinas, carga horária, período de oferta, ementa e bibliografia básica – representam a essência de qualquer disciplina e permitiram compreender o panorama de aprendizado na maioria dos cursos então autorizados. Ao expor aspectos comuns e especificidades encontradas na região em dois eixos de análise - conteúdos propostos e característica da oferta, este artigo promove indagações sobre os desafios do ensino de paisagismo no Brasil

Clinical presentation and treatment of Wilson's disease: a single-centreexperience

Thirty patients with Wilson's disease (WD) were observed at a movement disorder clinic between 1970 and 2000. Disease onset was at the mean age (SD) of 14.5 (+/-5.9) years. Presentation with hepatic disease occurred in 12 of 30 patients and with neurologic disease in 15. Three patients were asymptomatic at the time of diagnosis. The mean (SD) delay to diagnosis was 5.9 (+/-5.7) years. Five patients diagnosed in an advanced stage of disease died before initiating treatment. Eighteen patients were followed and treated with D-penicillamine alone or in combination with zinc sulphate. Treatment improved most of neurological symptoms. Dystonic postures, behavioural disturbances and dysarthria were the most resistant neurological signs. 'Pseudo-sclerotic' neurologic involvement predicted a good outcome, whereas hepatic onset and 'classic' neurologic involvement were associated with a poorer prognosis. Two of the 18 treated patients died of hepatic failure due to voluntary discontinuation of therapy. Both D-penicillamine and zinc sulphate were well tolerated. No teratogenic effect of D-penicillamine was observed throughout 5 pregnancies. Our results suggest that D-penicillamine or a combination of D-penicillamine and zinc sulphate is a safe and effective long-term treatment in patients with WD

PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism.

We analyzed the PINK1 gene in 58 patients with early-onset Parkinsonism and detected the homozygous mutation W437X in 1 patient. The clinical phenotype was characterized by early onset (22 years of age), good re- sponse to levodopa, early fluctuations and dyskinesias, and psychiatric symptoms. The mother, heterozygote for W437X mutation, was affected by Parkinson’s disease and 3 further relatives were reported affected, according to an autosomal dominant transmission

A novel mutation in SACS gene in a family from southern Italy

A form of autosomal recessive spastic ataxia (ARSACS) has been described in the Charlevoix and Saguenay regions of Quebec. So far a frameshift and a nonsense mutation have been identified in the SACS gene. The authors report a new mutation (1859insC), leading to a frameshift with a premature termination of the gene product sacsin, in two sisters from consanguineous parents. The phenotype is similar to previously described patients with ARSACS

Complex phenotype in an Italian family with a novel mutation in SPG3A.

Mutations in the SPG3A gene represent a significant cause of autosomal dominant hereditary spastic paraplegia with early onset and pure phenotype. We describe an Italian family manifesting a complex phenotype, characterized by cerebellar involvement in the proband and amyotrophic lateral sclerosis-like syndrome in her father, in association with a new mutation in SPG3A. Our findings further widen the notion of clinical heterogeneity in SPG3A mutations

Seja bem-vindo e boa viagem! Ensaio acerca do significado dos portais na paisagem das rodovias paranaenses

The landscape is a collective construction and is shaped as a result of disputes between groups that seek to mark the world according to their conception. In the urban universe, inscriptions in the territory can assume a varied complexion and present different levels of significance, such as urban landmarks and/or monuments. Due to the marked presence of gateways installed on the highways of Paraná, the following text has the intention of promoting reflections about its contribution to the conformation of the landscape. To do so, from a brief reflection on the conceptual category of landscape and the concept of monument, it is presented a classification and a brief description of these gateways to identifying them as representative elements of our communal stage. This article is a result of a concern that was consolidated by exploratory digital scanning of the entrances of the Paraná municipalities in Google Street View, powered by news available on the Internet.A paisagem é uma construção coletiva e se constitui como resultado de disputas entre grupos que procuram marcar o mundo de acordo com suas concepções. No universo urbano, inscrições no território podem assumir variada compleição e apresentar distintos níveis de significação, como marcos urbanos e/ou monumentos. Em razão da marcante presença de portais instalados nas rodovias paranaenses, este texto tem o objetivo de instigar juízos acerca da sua contribuição para a conformação da paisagem. Para tanto, a partir de sucintos apontamentos sobre a categoria de paisagem e o conceito de monumento, apresenta-se uma classificação e uma sucinta descrição desses portais com vistas a identificá-los como elementos representantes de nosso estágio comunal. Trata-se de resultado de inquietação que se consolidou por varredura digital exploratória das entradas rodoviárias dos municípios do Paraná no Google Street View, alimentado por notícias disponíveis na internet