699 research outputs found

    Diagnostic approach to paediatric movement disorders:a clinical practice guide

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    Paediatric movement disorders (PMDs) comprise a large group of disorders (tics, myoclonus, tremor, dystonia, chorea, Parkinsonism, ataxia), often with mixed phenotypes. Determination of the underlying aetiology can be difficult given the broad differential diagnosis and the complexity of the genotype-phenotype relationships. This can make the diagnostic process time-consuming and difficult. In this overview, we present a diagnostic approach for PMDs, with emphasis on genetic causes. This approach can serve as a framework to lead the clinician through the diagnostic process in eight consecutive steps, including recognition of the different movement disorders, identification of a clinical syndrome, consideration of acquired causes, genetic testing including next-generation sequencing, post-sequencing phenotyping, and interpretation of test results. The aim of this approach is to increase the recognition and diagnostic yield in PMDs.</p

    New developments in diagnostics and treatment of adult-onset focal dystonia

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    Purpose of reviewThe aim of this review is to showcase the recent developments in the field of diagnosis and treatment of adult-onset focal dystonia.Recent findingsAccurate phenotyping of focal dystonia is essential in the process of finding an underlying cause, including acquired, genetic, and idiopathic causes. Motor symptoms as well as the associated nonmotor symptoms and their detrimental impact on quality of life have received increased interest over the last years. The diagnostic process is complicated by the steadily increasing numbers of newly discovered genes associated with dystonia. Recent efforts have been aimed at further developing recommendations and algorithms to aid in diagnosis and in navigating the use of diagnostic tools. In terms of treatment, research on DBS is advancing towards a better understanding of the most effective stimulation locations within the globus pallidus. Moreover, with the introduction of the LFP-recording devices, the search continues for an accurate electrophysiological biomarker for dystonia.SummaryAccurate phenotyping and (sub)classification of patients with dystonia is important for improving diagnosis, subsequent treatment effect and population-based study outcomes in research. Medical practitioners should be attentive to the presence of nonmotor symptoms in dystonia.</p

    New developments in diagnostics and treatment of adult-onset focal dystonia

    Get PDF
    Purpose of reviewThe aim of this review is to showcase the recent developments in the field of diagnosis and treatment of adult-onset focal dystonia.Recent findingsAccurate phenotyping of focal dystonia is essential in the process of finding an underlying cause, including acquired, genetic, and idiopathic causes. Motor symptoms as well as the associated nonmotor symptoms and their detrimental impact on quality of life have received increased interest over the last years. The diagnostic process is complicated by the steadily increasing numbers of newly discovered genes associated with dystonia. Recent efforts have been aimed at further developing recommendations and algorithms to aid in diagnosis and in navigating the use of diagnostic tools. In terms of treatment, research on DBS is advancing towards a better understanding of the most effective stimulation locations within the globus pallidus. Moreover, with the introduction of the LFP-recording devices, the search continues for an accurate electrophysiological biomarker for dystonia.SummaryAccurate phenotyping and (sub)classification of patients with dystonia is important for improving diagnosis, subsequent treatment effect and population-based study outcomes in research. Medical practitioners should be attentive to the presence of nonmotor symptoms in dystonia.</p

    The effect of social network sites on international students' acculturation, adaptation, and wellbeing

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    Introduction: A growing body of literature focuses on the impact of social media on well-being of international students. What remains understudied, is how these effects may be explained through acculturation and adaptation processes. This paper examines the mediating roles of acculturation dimensions (cultural maintenance and host country participation) and (psychological and sociocultural) adaptation, on the relationship between host and home Social Network Site (SNS) use and well-being, among two populations. Methods: Hypotheses were tested using surveys distributed among a diverse group of international students in the Netherlands (n = 147) and a sample of Chinese students in Germany (n = 102). Results and discussion: The results of both studies show that international students use SNS to initiate contact with the host society, which relates positively to adaptation. However, using SNS to stay in contact with the home culture appears to inhibit the adaptation process, which relates to lower well-being. Our work suggests that these processes are similar across different contexts.</p

    Beleidsboodschappen Natuurverkenning 2010-2040

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    Het natuurbeleid bevindt zich in een overgangsfase. Zowel rijk als provincies, maatschappelijke organisaties en het bedrijfsleven zijn op zoek naar verbetering van het bestaande natuurbeleid en hun positie daarbinnen. Het gaat daarbij niet alleen om natuurbeleid in de strikte zin, maar onder meer ook om het landschaps-, ruimtelijk, energie- en voedselbeleid. Dit artikel draagt bouwstenen voor die zoektocht aan op basis van vier kijkrichtingen die zijn ontwikkeld in de Natuurverkenning 2010-2040
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