3,673 research outputs found

    Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome

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    Treacher Collins syndrome (TCS) is an autosomal dominant disorder of facial development, which results from mutations in TCOF1. TCS comprises conductive hearing loss, hypoplasia of the mandible and maxilla, downward sloping palpebral fissures and cleft palate. Although, there is usually a reasonable degree of bilateral symmetry, a high degree of both inter- and intrafamilial variability is characteristic of TCS. The wide variation in the clinical presentation of different patients, together with the fact that more than 60% of cases arise de novo, can complicate the diagnosis of mild cases and genetic counselling. In the current study, we describe how molecular techniques have been used to facilitate pre- and postnatal disease diagnoses in 13 TCS families

    James Bond: international man of gastronomy

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    This article is concerned with the representation of food and drink in Ian Fleming’s James Bond novels. In particular, it examines how the author uses Bond’s culinary knowledge and habits of consumption as an important constituent of his hero’s character. Similarly, the food choices of other characters, notably villains, are shown to be linked, by Fleming, to core aspects of their identity − principally their ethnicity. Bond’s impulse to observe and classify, very much in evidence in the novels’ food sequences, is examined in terms of the texts’ construction of Bond as a skilled identifier of signs

    The Transterpreter: A Transputer Interpreter

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    We have written the Transterpreter, a virtual machine for executing the transputer instruction set. This interpreter is a small, portable, and extensible run-time, intended to be easily ported to handheld computers, mobile phones, and other embedded contexts. In striving for this level of portability, occam programs compiled to Transputer byte-code can currently be run on desktop computers, handhelds, and even the LEGO Mindstorms robotics kit

    REIT capital structure : an examination of the use of unsecured debt over traditional equity and changes in dividend policy

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    Thesis (M.S.)--Massachusetts Institute of Technology, Dept. of Urban Studies and Planning, 1997 (first author), and Thesis (M.S.)--Massachusetts Institute of Technology, Dept. of Architecture, 1997 (second author).Includes bibliographical references (leaves 97-98).by Joshua T. Anderson and Ian R. Ponniah.M.S

    Transforming Power Relationships: Leadership, Risk, and Hope. IHS Political Science Series No. 135, May 2013

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    Chronic communal conflicts resemble the prisoner’s dilemma. Both communities prefer peace to war. But neither trusts the other, viewing the other’s gain as its own loss, so potentially shared interests often go unrealized. Achieving positive-sum outcomes from apparently zero-sum struggles requires a kind of riskembracing leadership. To succeed leaders must: a) see power relations as potentially positive-sum; b) strengthen negotiating adversaries instead of weakening them; and c) demonstrate hope for a positive future and take great personal risks to achieve it. Such leadership is exemplified by Nelson Mandela and F.W. de Klerk in the South African democratic transition. To illuminate the strategic dilemmas Mandela and de Klerk faced, we examine the work of Robert Axelrod, Thomas Schelling, and Josep Colomer, who highlight important dimensions of the problem but underplay the role of risk-embracing leadership. Finally we discuss leadership successes and failures in the Northern Ireland settlement and the Israeli-Palestinian conflict

    URI Disambiguation in the Context of Linked Data

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    The Linked Data initiative has given rise to an increasing number of RDF datasets, many of which are freely accessible online. These resources often arise as a result of database exports; however sufficient consideration may not be given to the unseen implications caused when they are used in the wider context of the Semantic Web. This paper investigates two popular resources, DBLP and DBpedia, and discusses whether the issues regarding identity management and co-reference resolution have been suitably addressed. We find that a large percentage of authors in DBLP have been conflated, and that disambiguation pages have been incorrectly linked using owl:sameAs within DBpedia. Systems for dealing with these issues are presented, and directions are given for future research

    Translation of evidence-based Assistive Technologies into stroke rehabilitation: Users' perceptions of the barriers and opportunities

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    Background: Assistive Technologies (ATs), defined as "electrical or mechanical devices designed to help people recover movement", demonstrate clinical benefits in upper limb stroke rehabilitation; however translation into clinical practice is poor. Uptake is dependent on a complex relationship between all stakeholders. Our aim was to understand patients', carers' (P&Cs) and healthcare professionals' (HCPs) experience and views of upper limb rehabilitation and ATs, to identify barriers and opportunities critical to the effective translation of ATs into clinical practice. This work was conducted in the UK, which has a state funded healthcare system, but the findings have relevance to all healthcare systems. Methods. Two structurally comparable questionnaires, one for P&Cs and one for HCPs, were designed, piloted and completed anonymously. Wide distribution of the questionnaires provided data from HCPs with experience of stroke rehabilitation and P&Cs who had experience of stroke. Questionnaires were designed based on themes identified from four focus groups held with HCPs and P&Cs and piloted with a sample of HCPs (N = 24) and P&Cs (N = 8). Eight of whom (four HCPs and four P&Cs) had been involved in the development. Results: 292 HCPs and 123 P&Cs questionnaires were analysed. 120 (41%) of HCP and 79 (64%) of P&C respondents had never used ATs. Most views were common to both groups, citing lack of information and access to ATs as the main reasons for not using them. Both HCPs (N = 53 [34%]) and P&C (N = 21 [47%]) cited Functional Electrical Stimulation (FES) as the most frequently used AT. Research evidence was rated by HCPs as the most important factor in the design of an ideal technology, yet ATs they used or prescribed were not supported by research evidence. P&Cs rated ease of set-up and comfort more highly. Conclusion: Key barriers to translation of ATs into clinical practice are lack of knowledge, education, awareness and access. Perceptions about arm rehabilitation post-stroke are similar between HCPs and P&Cs. Based on our findings, improvements in AT design, pragmatic clinical evaluation, better knowledge and awareness and improvement in provision of services will contribute to better and cost-effective upper limb stroke rehabilitation. © 2014 Hughes et al.; licensee BioMed Central Ltd

    Forward to the Past: la sfida della Storia in Machines Like Me di Ian McEwan

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    In his novel, Machines Like Me (2019), Ian McEwan offers an interesting example of “alternate history” while dealing with crucial ethical issues connected with the development of Artificial Intelligence. Instead of setting his story in the future, the author chooses to set it in the past, but he radically changes the contours of the latter. Hence, the England of the early 1980s is turned into a technologically advanced society, well ahead of the scientific progress of the early 21st century. Thus, the future casts its light on the past in what appears as a typically postmodernist mélange: besides mingling genres (from speculative fiction to uchronia), McEwan also performs an intriguing hybridization of fact and fiction. The paper intends to explore the rich historical dimension of the novel, which betrays the author’s interest in the reflection on history and on its narrativization – as well as its manipulation and/or contamination – within the literary text

    Food and eating in fiction since 1950 with particular reference to the writing of Angela Carter, Doris Lessing, Michele Roberts and Alice Thomas Ellis.

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    PhDEating is a fundamental activity. What people eat, how and with whom, what they feel about food, what they do or do not want to eat and why - even who they eat - are of crucial significance in any reading of human behaviour. In this thesis, I consider the diverse and complex uses of food and eating in fiction since 1950, especially that written by women. I argue both that food and eating carry much of the meaning of a novel or story and that the acts of cooking, feeding and eating depicted are inseparable from issues of power and control: individually, interpersonally, culturally, politically. My discussion centres on the writing of Angela Carter, Doris Lessing, Michele Roberts and Alice Thomas Ellis. Drawing on psychoanalytic theory, sociology, anthropology, Foucault, Bakhtin and others, the thesis aims to construct an interdisciplinary perspective which both resists reductive interpretations and emphasises the centrality, complexity and diversity of food and eating in literature in our culture. I begin with an examination of the ambiguities of maternal feeding and nurturing, moving on to explore the links between appetite, eating and sexuality. I explore cannibalism and vampirism as manifestations of oppression, but also as indicating insatiable emptiness and transgressive appetite. The body itself is crucial, and my argument considers the paradox of not eating as control/enslavement, also tracing self-starvation as a positive route towards wholeness and connection. The last part of my argument focuses on social eating, examining conventions, rituals and food itself in connection with power relations, and finally considers how we might truly speak of food and eating in the context of society as a whole
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