PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy

Mutations in PUS3, which encodes a highly conserved enzyme responsible for posttranscriptional modification of tRNA, have been shown in a single family to be a cause of nonsyndromic intellectual disability (ID).1 In this study, we used whole-exome sequencing (WES) to identify biallelic mutations in PUS3 associated with syndromic ID with dysmorphic features, white matter disease (WMD), and renal abnormalities in a nonconsanguineous family from Brazil

Modelagem geo-ambiental e interdisciplinar para ordenamento do território com corredores florestais ecológico-econômicos.

Desmatamento intensivo veio a ser um procedimento histórico na ocupação territorial e também a prática corrente em nossos dias de projetos de agricultura intensiva. Os impactos sobre o bioma de tipo savana, Cerrado, são inequívocos. Há evidências de conceitos errôneos na administração pública, sua ineficiência e pouco esclarecimento acerca das relações da agricultura com a bacia hidrográfica. A questão principal é: como expandir a frente agrícola, com algum desmatamento necessário e reflorestamento estratégico sem produzir-se irreversibilidade que possa afetar o bioma como um todo? Esta questão é um problema atual que exerce pressão social, política e econômica tanto quanto mais se demanda por bens agrícolas em um crescimento de população já previsto para os próximos 50 anos. Pelo mesmo fato a possibilidade de atuar corretamente na gestão agrícola e geo-ambiental com modelos consistentes, ecológica e economicamente, é a tese deste artigo.Intensive deforesting came to be not only a historical procedure in territorial occupation but also a current practice in present day context of intensive agricultural projects. Impacts over a biome like the savannah Cerrado are unequivocal. There are evidences of erroneous conceptions of the public administration, its inefficiency and the lack of knowledge about the relations of agriculture with watersheds. The main question is - how to expand the agricultural front, with some necessary deforesting and strategically reforesting without producing irreversibility, which may affect the biome itself as a whole? This question is an up to date pressing social, politics and economic problem as far as the demand for agricultural goods are increasing with population’s increment as modelled for the next 50 years. By the same token the possibility of correctly acting in agricultural and geo-environmental management with consistent ecological and economical models, is the thesis this paper presents

Characteristics of Susac syndrome: a review of all reported cases

In Susac syndrome, occlusions of microvessels-presumed to be mediated by an autoimmune response to an as yet unknown antigen--lead to a characteristic clinical triad of CNS dysfunction, branch retinal artery occlusions, and sensorineural hearing impairment. Susac syndrome is considered a rare but important differential diagnosis in numerous neurological, psychiatric, ophthalmological, and ear, nose and throat disorders. Improved understanding of this disorder is crucial, therefore, to ensure that patients receive appropriate treatment and care. Current knowledge on Susac syndrome is largely based on reports of single patients, small case series, and nonsystematic reviews. The aim of this Review is to extend these previous, primarily anecdotal findings by compiling data from all 304 cases of Susac syndrome that have been published worldwide, which were identified following a literature search with predefined search, inclusion and exclusion criteria. From this data, we present an overview of demographic, clinical and diagnostic data on Susac syndrome, providing a reliable basis for our current understanding of this rare disease. Where possible, we make recommendations for clinical diagnosis, differential diagnosis, and management of patients with suspected Susac syndrome