Ferramenta para tomada de decisão considerando a interação dos sistemas de produção e o meio ambiente Decision-making tool considering the interaction of the production systems and the environment

Diagramas ternários são apresentados como ferramenta gráfica no auxílio da contabilidade ambiental e tomada de decisões ambientais baseadas na análise emergética. Além de inquestionáveis vantagens da interpretação gráfica sobre análise de tabelas, o uso dos diagramas ternários, largamente empregados para a avaliação da físico-química de diagrama de fases para sistemas de três componentes, permite o uso das propriedades do diagrama de fases para avaliação da dependência dos sistemas sobre entradas renováveis e não-renováveis e a avaliação do suporte ambiental para diluição e redução de emissões dos processos e da eficiência dos sistemas. A imediata visualização dos dados da contabilidade emergética permite a comparação de processos e sistemas com e sem serviços dos ecossistemas, para avaliar melhorias e acompanhamento do desempenho dos sistemas ao longo do tempo. Com a objetividade dos diagramas ternários, aspectos como a interação entre sistemas e a interação entre sistemas e meio ambiente podem ser prontamente reconhecidos e avaliados.<br>Ternary diagrams are presented as graphic tools to assist environmental accounting and environmental decision-making based on emergy analysis. Besides the unquestionable advantages of graphic interpretation over table analysis, the use of ternary diagrams, widely used for physical chemistry evaluation of three components systems, or three components phase diagrams, permits the use of phase diagrams properties to assess the dependence of the system upon renewable and non renewable inputs, the environmental support for dilution and abatement of process emissions and the system efficiency. The prompt visualization of the emergy accounting data makes possible to compare processes and systems with and without ecosystem services, to evaluate improvements and to follow the system performance over time. With the aim of ternary diagrams, aspects such as the interaction between systems and the interactions between systems and the environment can be readily recognized and evaluated

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor beta Signaling

BACKGROUND: The X-chromosome gene USP9X encodes a deubiquitylating enzyme that has been associated with neurodevelopmental disorders primarily in female subjects. USP9X escapes X inactivation, and in female subjects de novo heterozygous copy number loss or truncating mutations cause haploinsufficiency culminating in a recognizable syndrome with intellectual disability and signature brain and congenital abnormalities. In contrast, the involvement of USP9X in male neurodevelopmental disorders remains tentative.METHODS: We used clinically recommended guidelines to collect and interrogate the pathogenicity of 44 USP9X variants associated with neurodevelopmental disorders in males. Functional studies in patient-derived cell lines and mice were used to determine mechanisms of pathology.RESULTS: Twelve missense variants showed strong evidence of pathogenicity. We define a characteristic phenotype of the central nervous system (white matter disturbances, thin corpus callosum, and widened ventricles); global delay with significant alteration of speech, language, and behavior; hypotonia; joint hypermobility; visual system defects; and other common congenital and dysmorphic features. Comparison of in silico and phenotypical features align additional variants of unknown significance with likely pathogenicity. In support of partial loss-of-function mechanisms, using patient-derived cell lines, we show loss of only specific USP9X substrates that regulate neurodevelopmental signaling pathways and a united defect in transforming growth factor signaling. In addition, we find correlates of the male phenotype in Usp9x brain-specific knockout mice, and further resolve loss of hippocannpal-dependent learning and memory.CONCLUSIONS: Our data demonstrate the involvement of USP9X variants in a distinctive neurodevelopmental and behavioral syndrome in male subjects and identify plausible mechanisms of pathogenesis centered on disrupted transforming growth factor beta signaling and hippocampal function.Genetics of disease, diagnosis and treatmen