18 research outputs found

    Diagnosis and management of Cornelia de Lange syndrome:first international consensus statement

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    Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning

    Online Learning Systems: Highlights of the TechCast Project

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    Knowledge management systems, Learning systems, Online learning systems, Collective intelligence, Delphi method, Technology Revolution,

    Zur Objektivierung strategischer Entscheidungen

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    Illicit Drug Markets, Consumer Capitalism and the Rise of Social Media: A Toxic Trap for Young People

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    This article explores young people’s involvement in illicit drug markets in England. It focuses in particular on why young people become involved in illicit drug distribution, the extent to which their involvement is predicated on adults’ use of threats and violence, and how young people frame the morality of drug dealing. The article’s findings are based on a unique dataset generated by a six-month period of online social media platform analysis, alongside additional data drawn from periods of observation, focus groups and interviews with young people and professionals. In short, I argue that drug prohibition, consumer capitalism, severe levels of inequality, and emerging problems associated with the rise of online social media are combining to produce a toxic trap that is dragging tens of thousands of young people into streetlevel drug dealing. Considered in this context, the inadequacy of the United Kingdom government’s response to some of the main harms associated with illicit drug markets is clear: children and young people will continue to be coerced and exploited until either drug markets are legalized and regulated, or they have realistic opportunities to pursue lives that offer genuine meaning, decent levels of income, and levels of status and respect that are comparable to those provided by drug distributio
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