Da Amazônia ao Pacífico cruzando os Andes

A Área Amazônica (AA) é compartilhada por oito países sul-americanos independentes. Desde os tempos coloniais sentiu-se a necessidade da construção de uma via de união da AA com o Oceano Pacífico. Mas os Andes, em termos técnicos e econômicos, foram barreira insuperável até as últimas décadas do século XIX. Nos últimos anos, para o Brasil - país que tem perto de 60% da AA -, esta via vem se tornando cada vez mais importante em termos de exportação, especialmente para o mercado japonês, de grãos, madeira, polpa de madeira etc., ao mesmo tempo em que o Japão também deseja acesso direto à AA. Brasil e Peru, segundo país da AA, com a maior e mais ocidental costa no Pacífico, têm desenvolvido projetos para a construção de uma estrada, contando para isso com apoio financeiro oferecido pelo Japão em diversas oportunidades. Tais projetos tentam conciliar não apenas os interesses de Brasil e Peru, mas também os da Bolívia, país mediterrâneo que poderia finalmente ter acesso livre à costa do Pacífico. Os Estados Unidos, porém, opõem-se a construção da mencionada via e, o projeto está a espera de que o financiamento anteriormente aventado permita sua concretização. Parece que, na construção da projetada estrada, interesses estratégicos das grandes potências mundiais estão envolvidos.<br>The Amazon Area (AA) is shared by 8 independent south american countries. Since colonial times it was felt the need of a road linking the AA to the Pacific Ocean. Up to the last decades of the 19th Century the Andes were, in technical and economical terms, almost an insuperable challenge. In the last years for Brazil, the country that has about 60% of the AA, that road has become almost a need for exporting grains, timber, woodpulp etc. (mainly to Japan). And Japan also wants an acess to that area. So, Brasil, together with Peru - the second, after Brazil, AA country that has the largest and westernmost coast in the Pacific - have developed projects for building that highway counting with the financial support of Japan, who offered it in several occasions. Those projects are trying to conciliate mainly (not only) the interests of Brazil, Peru and also of Bolivia, a mediterranean country that, with the highway, could finally have a free access to the Pacific coast. But USA is oppossed to building this road because the financing of Japan. Then, all the projects are again in stand-still. It seems that in the construction of the mentioned road are directly involved strategic interests of the big world powers

<em>GRIN2B</em> encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

BACKGROUND: We aimed for a comprehensive delineation of genetic, functional and phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of personalised medicine. METHODS: Data of 48 individuals with de novo GRIN2B variants were collected from several diagnostic and research cohorts, as well as from 43 patients from the literature. Functional consequences and response to memantine treatment were investigated in vitro and eventually translated into patient care. RESULTS: Overall, de novo variants in 86 patients were classified as pathogenic/likely pathogenic. Patients presented with neurodevelopmental disorders and a spectrum of hypotonia, movement disorder, cortical visual impairment, cerebral volume loss and epilepsy. Six patients presented with a consistent malformation of cortical development (MCD) intermediate between tubulinopathies and polymicrogyria. Missense variants cluster in transmembrane segments and ligand-binding sites. Functional consequences of variants were diverse, revealing various potential gain-of-function and loss-of-function mechanisms and a retained sensitivity to the use-dependent blocker memantine. However, an objectifiable beneficial treatment response in the respective patients still remains to be demonstrated. CONCLUSIONS: In addition to previously known features of intellectual disability, epilepsy and autism, we found evidence that GRIN2B encephalopathy is also frequently associated with movement disorder, cortical visual impairment and MCD revealing novel phenotypic consequences of channelopathies

Abstracts from Hydrocephalus 2016

[No abstract available