7 research outputs found

    Gossip in organisations: Contexts, consequences and controversies

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    This article examines the key themes surrounding gossip including its contexts, the various outcomes (positive and negative) of gossip as well as a selection of challenges and controversies. The challenges which are highlighted revolve around definitional issues, methodological approaches, and ethical considerations. Our analysis suggests that the characteristics and features of gossip lend itself to a process-oriented approach whereby the beginning and, particularly, end points of gossip are not always easily identified. Gossip about a subject or person can temporarily disappear only for it to re-surface at some later stage. In addition, questions pertaining to the effects of gossip and ethical-based arguments depend on the nature of the relationships within the gossip triad (gossiper, listener/respondent and target)

    Development, behaviour and autism in individuals with SMC1A variants

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    Introduction Development and behaviour in Cornelia de Lange Syndrome (CdLS), including autism characteristics, have been described infrequently stratified to genetic cause and only a few studies have considered behavioural characteristics in relation to developmental level. Here, we describe the behavioural phenotype in individuals with CdLS with SMC1A variants. Methods We performed an international, interdisciplinary study on 51 individuals with SMC1A variants. Results of questionnaire studies are compared to those in individuals with Down Syndrome and with Autism Spectrum Disorder. Results on cognition and self-injurious behaviour (SIB) are compared to those in individuals with CdLS caused by NIPBL variants. For Dutch participants with SMC1A variants we performed direct in-person assessments of cognition, autism, and added an interview and questionnaire on adaptive behaviour and sensory processing. Results Individuals with SMC1A variants show a higher cognitive level and less SIB than individuals with NIPBL variants. Individuals with SMC1A variants without classic CdLS phenotype but with a Rett-like phenotype show more severe intellectual disability and more SIB compared to those with a CdLS phenotype. Autism is less present if outcomes in direct in-person assessments are evaluated taking developmental level into account compared to results based on a questionnaire. Conclusions Behaviour in individuals with CdLS should be evaluated taking genetic cause into account. Detailed interdisciplinary approaches are of clinical importance to inform tailored care and may eventually improve quality of life of patients and families.Genetics of disease, diagnosis and treatmen

    From numbers to ecosystems and biodiversity: A mechanistic approach to monitoring

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    Diverse political, cultural and biological needs epitomise the contrasting demands impacting on the mandate of the South African National Parks (SANParks) to maintain biological diversity. Systems-based approaches and strategic adaptive management (learn by doing) enable SANParks to accommodate these demands. However, such a management strategy creates new information needs, which require an appropriate analytical approach. We use conceptual links between objectives, indicators, mechanisms and modulators to identify key concerns in the context of and related to management objectives. Although our suggested monitoring designs are based mostly on defined or predicted underlying mechanisms of a concern, SANParks requires inventory monitoring to evaluate its key mandate. We therefore propose a predictive inventory approach based on species assemblages related to habitat preferences. Inventories alone may not always adequately serve unpacking of mechanisms: in some cases population size needs to be estimated to meet the information needs of management strategies, but actual population sizes may indirectly affect how the species impact on other values. In addition, ecosystem objectives require multivariate assessments of key communities, which can be used in trend analysis. SANParks therefore needs to know how to detect and define trends efficiently, which, in turn, requires precision of measures of variables. Conservation implications: Current research needs with regard to monitoring should focus on defining designs to yield optimal precision whilst taking methodology, survey trade-offs and analytical approaches into account. Use of these directives and research will guide monitoring during evaluation of SANParks objectives at various scales

    HRM as a Pluralistic Forum: Assumptions and Prospects for developing a distinctive research capability

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    In this paper, the dilemmas facing HRM on how to establish itself as a distinct area and yet avoid a particular disciplinary allegiance and level of analysis are assessed. HRM is seen, like business strategy, as a meeting ground between established disciplines. HRM research to date is then assessed in this light and problems of the potential limitation ofcontributions of other relevant disciplines are assessed. The established findings in organizational development (OD) have, it is argued, been particularly neglected in HRM analyses of organization change. The importance of developing pluralistic HRM research is re-affirmed

    Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

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    Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder with distinct facies, growth failure, intellectual disability, distal limb anomalies, gastrointestinal and neurological disease. Mutations in NIPBL, encoding a cohesin regulatory protein, account for >80% of cases with typical facies. Mutations in the core cohesin complex proteins, encoded by the SMC1A, SMC3 and RAD21 genes, together account for approximately 5% of subjects, often with atypical CdLS features. Recently, we identified mutations in the X-linked gene HDAC8 as the cause of a small number of CdLS cases. Here, we report a cohort of 38 individuals with an emerging spectrum of features caused by HDAC8 mutations. For several individuals, the diagnosis of CdLS was not considered prior to genomic testing. Most mutations identified are missense and de novo. Many cases are heterozygous females, each with marked skewing of X-inactivation in peripheral blood DNA. We also identified eight hemizygous males who are more severely affected. The craniofacial appearance caused by HDAC8 mutations overlaps that of typical CdLS but often displays delayed anterior fontanelle closure, ocular hypertelorism, hooding of the eyelids, a broader nose and dental anomalies, which may be useful discriminating features. HDAC8 encodes the lysine deacetylase for the cohesin subunit SMC3 and analysis of the functional consequences of the missense mutations indicates that all cause a loss of enzymatic function. These data demonstrate that loss-of-function mutations in HDAC8 cause a range of overlapping human developmental phenotypes, including a phenotypically distinct subgroup of CdLS
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