Williams-Beuren syndrome (WBS), a neurodevelopmental genetic disorder whose manifestations include visuospatial impairment, provides a unique model to link genetically determined loss of neural cell populations at different levels of the nervous system with neural circuits and visual behavior. Given that several of the genes deleted in WBS are also involved in eye development and the differentiation of retinal layers, we examined the retinal phenotype in WBS patients and its functional relation to global motion perception. We discovered a low-level visual phenotype characterized by decreased retinal thickness, abnormal optic disk concavity, and impaired visual responses in WBS patients compared with age-matched controls by using electrophysiology, confocal and coherence in vivo imaging with cellular resolution, and psychophysics. These mechanisms of impairment are related to the magnocellular pathway, which is involved in the detection of temporal changes in the visual scene. Low-level magnocellular performance did not predict high-level deficits in the integration of motion and 3D information at higher levels, thereby demonstrating independent mechanisms of dysfunction in WBS that will require remediation strategies different from those used in other visuospatial disorders. These findings challenge neurodevelopmental theories that explain cortical deficits based on low-level magnocellular impairment, such as regarding dyslexia.

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Confl itos de interesse: nada a declarar. ResumoObjetivo: Avaliar o nível de conhecimentos dos agentes educativos sobre os fatores de risco para a saúde mental de crianças e adolescentes e analisar a sua associação com variáveis sociodemográfi cas.Métodos: Estudo quantitativo, com recurso a uma amostra não probabilística de 136 agentes educativos (62,5% professores, 32,4% enfermeiros e 5,1% polícias), na sua maioria mulheres (70,6%) e média de idades de 48,34 anos. A colheita de dados, com recurso a um questionário de auto-preenchimento, realizouse no ano lectivo de 2018 em quatro escolas do concelho de Viseu -Região centro de Portugal. Testes estatísticos utilizados: Qui-Quadrado e Análise de Regressão Múltipla.Resultados: Na generalidade os agentes educativos revelaram possuir conhecimentos sobre os fatores de risco para a saúde mental, destacando-se 39,71% que chegam mesmo a evidenciar excelentes conhecimentos. Em termos comparativos, os enfermeiros são os que evidenciam melhores níveis de conhecimentos ( =15,546), seguindo-se os professores ( =13,318) e, por fi m, os polícias ( =8,571), diferenças estas signifi cativas (x 2 =14,725; p= 0,004). O estudo multivariado inferiu ser o género a única variável a se revelar preditora do nível de conhecimentos, explicando 11,5% da sua variabilidade (p=0,002), evidenciando as mulheres maior nível de conhecimentos. Já o efeito preditivo da variável categoria profi ssional (p=0,051) e tempo de experiência profi ssional (p=0,0179) não se revelou signifi cativo.Conclusão: O facto do género ter sido a única variável que se revelou preditiva do nível de conhecimentos, faz-nos ponderar da necessidade de se adoptarem estratégias diferenciadas em programas de formação, onde as características e vulnerabilidade dos dois sexos sejam salvaguardadas.

Disulfiram has been widely used for over six decades in the treatment of alcohol dependence, as an aversive therapeutic agent. Despite having very few side effects when taken without concurrent alcohol consumption, some of these may underlie serious clinical complications. Epileptic seizure induction is a rare adverse effect of disulfiram and its aetiological mechanism is unknown. We present a hospitalised 47-year-old male patient with two episodes of generalised tonic-clonic seizures during treatment with disulfiram while abstinent from alcohol.

Life-supporting ecosystems are facing impending destruction. The human–computer interaction (HCI) community must rethink how to design technological interventions that reconcile concepts and theories for ecological computing. Proponents of sustainable HCI have pushed for tools and systems that aim to decenter the human in a shift toward posthuman design—a theoretical approach that challenges the assumption that only humans are stakeholders of technology as it increasingly shapes the future. Building on the iconic value of whales and the economic impact of whale watching as a form of ecotourism, we developed Aqua, a digital tool that leverages the potential of citizen science to engage tourists in marine-biodiversity awareness and conservation. This manuscript is advancing the field of sustainable HCI and tourism applications in two ways: first, we deliver an artifact contribution by designing and implementing a digital tool to enhance whale-watching activities. Second, we offer an empirical research contribution through observation and data gathering while comparing participants’ experiences of a whale-watching trip with and without the digital tool. Finally, preliminary insights are provided to inform the design of future digital tools aimed at promoting environmental conservation and citizen-science approaches among tourists. This work presents progression in understanding and informs the design of digital tools to engage tourists in novel and sustainable experiences.

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