531 research outputs found

    Genetische Information und Prävention

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    Am J Med Genet A

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    We report on a girl with delayed mental and motor development, ophthalmological abnormalities, and peripheral neuropathy. Chromosome analysis suggested a deletion within chromosome 8p. Further investigation by array-based comparative genomic hybridization (array-CGH) delineated an 8 Mb interstitial deletion on the short arm of chromosome 8. The breakpoints are located at chromosome bands 8p12 and 8p21.2. Forty-two known genes including gonadotropin-releasing hormone 1 (GNRH1), transcription factor EBF2, exostosin-like 3 (EXTL3), glutathione reductase (GSR), and neuregulin 1 (NRG1), are located within the deleted region on chromosome 8p. A comparison of our patient with the cases described in the literature is presented, and we discuss the genotype-phenotype correlation in our patient. This is the first report of array-CGH analysis of an interstitial deletion at chromosome 8p

    Social trajectories or disrupted identities? : Changing and competing models of teacher professionalism under New Labour

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    Since the 1988 Education Reform Act, the teacher’s role in England has changed in many ways, a process which intensified under New Labour after 1997. Conceptions of teacher professionalism have become more structured and formalized, often heavily influenced by government policy objectives. Career paths have become more diverse and specialised. In this article, three post-1997 professional roles are given consideration as examples of these new specialised career paths: Higher Level Teaching Assistants, Teach First trainees and Advanced Skills Teachers. The article goes on to examine such developments within teaching, using Bourdieu’s concept of habitus to inform the analysis, as well as Bernstein’s theories of knowledge and identity. The article concludes that there has been considerable specialization and subsequent fragmentation of roles within the teaching profession, as part of workforce remodelling initiatives. However, there is still further scope for developing a greater sense of professional cohesion through social activism initiatives, such as the children's agenda. This may produce more stable professional identities in the future as the role of teachers within the wider children’s workforce is clarified

    Place attachment in deprived neighbourhoods: The impacts of population turnover and social mix

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    This paper examines the determinants of individual place attachment, focussing in particular on differences between deprived and others neighbourhoods, and on the impacts of population turnover and social mix. It uses a multi-level modelling approach to take account of both individual- and neighbourhood-level determinants. Data are drawn from a large sample government survey, the Citizenship Survey 2005, to which a variety of neighbourhood-level data have been attached. The paper argues that attachment is significantly lower in more deprived neighbourhoods primarily because these areas have weaker social cohesion but that, in other respects, the drivers of attachment are the same. Turnover has modest direct impacts on attachment through its effect on social cohesion. Social mix has very limited impacts on attachment and the effects vary between social groups. In general, higher status or more dominant groups appear less tolerant of social mix

    Scour protection design in highly morphodynamic environments

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    Offshore wind parks are often developed in areas with a highly morphodynamic seabed. In order to keep the pile fixation level within acceptable limits for pile design, sophisticated scour mitigation strategies are required. This paper discusses the scour protection strategy for the Nordergründe Offshore Wind Farm, where 10m seabed level drops are predicted at some monopile locations. Physical model tests were performed to validate the scour protection design, focussing on correct falling apron behaviour and the stability of the loose rock scour protection. The outcome of the tests showed good correlation with a modified relative mobility parameter. Using this parameter, the scour protection was optimised for the individual pile locations

    Citizens without nations

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    To broach the question of whether citizenship could exist without (or beyond) community, this paper discusses genealogies of citizenship as membership that binds an individual to the community of birth (of the self or a parent). It is birthright as fraternity that blurs the boundary between citizenship and nationality. After briefly discussing recent critical studies on birthright citizenship (whether it is civic or ethnic or blood or soil) by Ayelet Shachar and Jacqueline Stevens, the paper discusses three critical genealogies of the relationship between birthright and citizenship by Max Weber, Hannah Arendt, and Michel Foucault. Although each provides a critical perspective into the question, Weber reduces citizenship to fraternity with nation and Arendt reduces citizenship to fraternity with the state. It is Foucault who illustrates racialization of fraternity as the connection between citizenship and nationality. Yet, since Foucault limits his genealogical investigations to the 18th and 19th centuries, a genealogy of fraternity of what he calls an immense biblical and Greek tradition remains for Derrida to articulate as a question of citizenship

    Culture and personality revisited: Behavioral profiles and within‐person stability in interdependent (vs. independent) social orientation and holistic (vs. analytic) cognitive style

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    ObjectiveWe test the proposition that both social orientation and cognitive style are constructs consisting of loosely related attributes. Thus, measures of each construct should weakly correlate among themselves, forming intraindividually stable profiles across measures over time.MethodStudy 1 tested diverse samples of Americans (N = 233) and Japanese (N = 433) with a wide range of measures of social orientation and cognitive style to explore correlations among these measures in a cross‐cultural context, using demographically heterogeneous samples. Study 2 recruited a new sample of 485 Americans and Canadians and examined their profiles on measures of social orientation and cognitive style twice, one month apart, to assess the stability of individual profiles using these variables.ResultsDespite finding typical cross‐cultural differences, Study 1 demonstrated negligible correlations both among measures of social orientation and among measures of cognitive style. Study 2 demonstrated stable intraindividual behavioral profiles across measures capturing idiosyncratic patters of social orientation and cognitive style, despite negligible correlations among the same measures.ConclusionThe results provide support for the behavioral profile approach to conceptualizing social orientation and cognitive style, highlighting the need to assess intraindividual stability of psychological constructs in cross‐cultural research.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/162694/2/jopy12536_am.pdfhttp://deepblue.lib.umich.edu/bitstream/2027.42/162694/1/jopy12536.pd

    Mycobacterium tuberculosis Invasion of the Human Lung: First Contact

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    Early immune responses to Mycobacterium tuberculosis (Mtb) invasion of the human lung play a decisive role in the outcome of infection, leading to either rapid clearance of the pathogen or stable infection. Despite their critical impact on health and disease, these early host–pathogen interactions at the primary site of infection are still poorly understood. In vitro studies cannot fully reflect the complexity of the lung architecture and its impact on host–pathogen interactions, while animal models have their own limitations. In this study, we have investigated the initial responses in human lung tissue explants to Mtb infection, focusing primarily on gene expression patterns in different tissue-resident cell types. As first cell types confronted with pathogens invading the lung, alveolar macrophages, and epithelial cells displayed rapid proinflammatory chemokine and cytokine responses to Mtb infection. Other tissue-resident innate cells like gamma/delta T cells, mucosal associated invariant T cells, and natural killer cells showed partially similar but weaker responses, with a high degree of variability across different donors. Finally, we investigated the responses of tissue-resident innate lymphoid cells to the inflammatory milieu induced by Mtb infection. Our infection model provides a unique approach toward host–pathogen interactions at the natural port of Mtb entry and site of its implantation, i.e., the human lung. Our data provide a first detailed insight into the early responses of different relevant pulmonary cells in the alveolar microenvironment to contact with Mtb. These results can form the basis for the identification of host markers that orchestrate early host defense and provide resistance or susceptibility to stable Mtb infection
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