70 research outputs found

    Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

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    Purpose By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS). Methods We used a multistep process, beginning with a Delphi method involving global experts and subsequently involving non-NF experts, patients, and foundations/patient advocacy groups. Results We reached consensus on the minimal clinical and genetic criteria for diagnosing and differentiating NF1 and LGSS, which have phenotypic overlap in young patients with pigmentary findings. Criteria for the mosaic forms of these conditions are also recommended. Conclusion The revised criteria for NF1 incorporate new clinical features and genetic testing, whereas the criteria for LGSS were created to differentiate the two conditions. It is likely that continued refinement of these new criteria will be necessary as investigators (1) study the diagnostic properties of the revised criteria, (2) reconsider criteria not included in this process, and (3) identify new clinical and other features of these conditions. For this reason, we propose an initiative to update periodically the diagnostic criteria for NF1 and LGSS

    Swept Under the Rug? A Historiography of Gender and Black Colleges

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    Institutional change in regional organizations : the emergence and evolution of ASEAN norms

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    In November 2007, the member states of the Association of Southeast Asian Nations (ASEAN) signed their first Charter, and hailed it as a ‘milestone’ for regional cooperation. The Charter was designed to provide the ‘legal and institutional framework’ for ASEAN, and to give it a ‘legal personality’. It refers to ‘strengthening’ the principle of democracy and to ‘promoting and protecting’ human rights. It also states that ASEAN ‘shall establish an ASEAN human rights body’. The Charter raises an empirical puzzle given the ASEAN norms of sovereignty and ‘non-interference in the internal affairs of one another’, which are reiterated in ASEAN declarations and agreements (including the Charter). Moreover, the significant political, ethnic and cultural diversity among member states traditionally underpins the understanding that regime type and human rights are ‘off the table’ in (official) ASEAN dialogue. Thus, why did ASEAN member states adopt text in the Charter referring to democracy and human rights? Further, why was the debate about the references to human rights far more contentious than that about the references to democracy? This dissertation traces the negotiations leading to the ASEAN Charter, and explores the processes through which member states accepted the references to democracy and human rights, and agreed to establish an ASEAN human rights body. I argue that perceptions of legitimacy influence states’ positions on regional ‘normative statements’. The emergence and evolution of regional norms are shaped by political elites’ perceptions of how members of a regional organization view the legitimacy of the organization and its norms (which I call ‘internal regional legitimacy’). These are in turn shaped by elites’ perceptions of how their societies regard the legitimacy of their national governments (‘domestic political legitimacy’). Regional norms are also shaped by elites’ perceptions of how those outside the region view the legitimacy of the regional organization and its norms (‘external regional legitimacy’). The dissertation’s exploration of various actors’ perceptions of legitimacy in the adoption of the Charter helps to explain the diverse understandings of norms by member states. Moreover, it contributes to theoretical understandings of the emergence and evolution of norms in an environment of ‘normative contestation’.Arts, Faculty ofPolitical Science, Department ofGraduat

    Cooperation in contention : the evolution of ASEAN norms

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    There are a number of methods commonly used to estimate metabolic rate in animals, one of which is the Heart Rate Method. Heart rate (f[sub H]) can theoretically be used as a direct proxy for O₂ consumption (V[sub O]) according to Fick's equation (V[sub O] = f[sub H] x O₂ pulse) as long as the O₂ pulse varies in a predictable manner. The benefit of this method is that heart rate is easily monitored both in the lab and in the field, is sensitive to short-term changes in activity, and can be monitored continuously on the order of weeks or months. Studies have confirmed that in some birds, mammals, and at least one species of reptile, the accuracy of this method is at least as great as that of the doubly-labelled water method. My goal was to determine if heart rate can be used as a reliable estimate of metabolic rate in tegu lizards. To this end, f[sub H] and V[sub O] were measured simultaneously in fasting lizards at 17°C, 27°C and 37°C, and in digesting lizards at 37°C. Regression analysis showed that, at any given temperature or digestive state, the relationship between f[sub H] and V[sub O] was highly variable between individuals (as indicated by different slopes and intercepts) as well as within individuals (as indicated by low r² values). Regression analysis on data pooled within each treatment failed to account for this variability. However, regression analysis of the dataset in its entirety accounted for 740/0 of the variability. The equation which best described the relationship in unstressed animals was lnsV[sub O] = —3.441 + 0.679 InF[sub R]. Predictions of total metabolic rate calculated from this general calibration equation were typically more accurate than predictions based on the Time Energy Budget method.Arts, Faculty ofPolitical Science, Department ofGraduat

    Theories of world affairs

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    This chapter demonstrates the importance of theory in the study of International Relations. The suggestion is that that the nature of the international system – how and why it came to be – cannot be fully understood without first understanding the system’s conceptual building blocks. Thus, we challenge the commonplace dichotomy that is thought to exist between ‘theory’ and ‘practice’ in International Relations. This chapter looks broadly at some of the most prominent theories of International Relations that have gone on to not only alter the debates within the discipline, but also fundamentally impact the course of twentieth-century world affairs. First, we develop this discussion by saying a few words about the role and significance of theory. We argue that theory helps us to interpret facts and make sense of reality; it helps us to categorize, give significance to and predict phenomena that may otherwise seem unintelligible. Second, we review the so-called Great Debates that have influenced the theoretical trajectory of International Relations since the discipline’s establishment in the wake of World War I. Third, we explore some of the more prominent theoretical perspectives which have influenced International Relations scholars and practitioners. We focus on familiarizing students with the two mainstream theories of Liberalism and Realism, and their so-called ‘neo’ variants. We also consider Constructivism and Feminism – theoretical perspectives which have set out to critique many of the liberal and realist assumptions entrenched within contemporary International Relations
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