We report the identification of a recurrent, 520-kb 16p12.1 microdeletion associated with childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases compared with 2 of 8,540 controls and replicated in a second series of 22 of 9,254 cases compared with 6 of 6,299 controls. Most deletions were inherited, with carrier parents likely to manifest neuropsychiatric phenotypes compared to non-carrier parents. Probands were more likely to carry an additional large copy-number variant when compared to matched controls. The clinical (...) features of individuals with two mutations were distinct from and/or more severe than those of individuals carrying only the co-occurring mutation. Our data support a two-hit model in which the 16p12.1 microdeletion both predisposes to neuropsychiatric phenotypes as a single event and exacerbates neurodevelopmental phenotypes in association with other large deletions or duplications. Analysis of other microdeletions with variable expressivity indicates that this two-hit model might be more generally applicable to neuropsychiatric disease. © 2010 Nature America, Inc. All rights reserved. (shrink)

This paper argues that there exists a collective epistemic state of ‘Broad Medical Uncertainty’ regarding the effectiveness of many medical interventions. We outline the features of BMU, and describe some of the main contributing factors. These include flaws in medical research methodologies, bias in publication practices, financial and other conflicts of interest, and features of how evidence is translated into practice. These result in a significant degree of uncertainty regarding the effectiveness of many medical treatments and unduly optimistic beliefs about (...) the benefit/harm profiles of such treatments. We argue for an ethical presumption in favour of openness regarding BMU as part of a ‘Corrective Response’. We then consider some objections to this position, including concerns that public honesty about flaws in medical research could undermine trust in healthcare institutions. We suggest that, as it stands, the Anti-Corrective Response is unconvincing. (shrink)

1 Evidence-based policy requires researchers to provide the answers to ecological questions that are of interest to policy makers. To find out what those questions are in the UK, representatives from 28 organizations involved in policy, together with scientists from 10 academic institutions, were asked to generate a list of questions from their organizations. 2 During a 2-day workshop the initial list of 1003 questions generated from consulting at least 654 policy makers and academics was used as a basis for (...) generating a short list of 100 questions of significant policy relevance. Short-listing was decided on the basis of the preferences of the representatives from the policy-led organizations. 3 The areas covered included most major issues of environmental concern in the UK, including agriculture, marine fisheries, climate change, ecosystem function and land management. 4 The most striking outcome was the preference for general questions rather than narrow ones. The reason is that policy is driven by broad issues rather than specific ones. In contrast, scientists are frequently best equipped to answer specific questions. This means that it may be necessary to extract the underpinning specific question before researchers can proceed. 5 Synthesis and applications. Greater communication between policy makers and scientists is required in order to ensure that applied ecologists are dealing with issues in a way that can feed into policy. It is particularly important that applied ecologists emphasize the generic value of their work wherever possible. (shrink)

From David Hume's famous puzzle about 'the missing shade of blue' to current research into the science of colour, the topic of colour is an incredibly fertile region of study and debate, cutting across philosophy of mind, epistemology, metaphysics and aesthetics as well as psychology. Debates about the nature of our experience of colour and the nature of colour itself are central to contemporary discussion and argument in philosophy of mind and psychology, and philosophy of perception. This outstanding Handbook contains (...) twenty-nine specially commissioned contributions by leading philosophers and examines the most important aspects of philosophy of colour. It is organised into six parts: The Importance of Colour to Philosophy The Science and Spaces of Colour Colour Phenomena Colour Ontology Colour Experience and Epistemology Language, Categories and Thought. The Routledge Handbook of Philosophy of Colour is essential reading for students and researchers in philosophy of mind and psychology, epistemology, metaphysics and aesthetics, as well as for those interested in conceptual issues in the psychology of colour. (shrink)

The Cambridge Quarterly has a history of presenting multidisciplinary perspectives in bioethics, welcoming a lively dialogue between clinicians, philosophers, theologians, social scientists, lawyers, and others on a range of bioethics concerns. This special issue of the journal focuses explicitly on contributions from anthropologists to the field.

A concept for teaching business ethics and its relationship with business law is developed. Legal regulations form the essential boundaries of the business game. Many students do not realize the degree to which law is dependent upon ethical actors to achieve its objectives. At least three examples are insightful in this regard: First, the interpretive requirements of legal rules often rely on the ethical character of the interpreting business actor to achieve their objectives. Second, law does not prohibit harms from (...) occurring, it only associates costs with behaviors. Third, law cannot compensate society for non-fungible harms. Legal regulations do not sustain the orderly function of society without ethical business actors. (shrink)

A concept for teaching business ethics and its relationship with business law is developed. Legal regulations form the essential boundaries of the business game. Many students do not realize the degree to which law is dependent upon ethical actors to achieve its objectives. At least three examples are insightful in this regard: First, the interpretive requirements of legal rules often rely on the ethical character of the interpreting business actor to achieve their objectives. Second, law does not prohibit harms from (...) occurring, it only associates costs with behaviors. Third, law cannot compensate society for non-fungible harms. Legal regulations do not sustain the orderly function of society without ethical business actors. (shrink)

This article takes two events in the ongoing story of a predicted UK avian flu epidemic—“the dead parrot” (October 2005) and “the dying swan” (April 2006)—and examines the role and use of three interconnected metaphor scenarios (related to the notions of “journey,” “war,” and “house”) in the UK press coverage about avian influenza in 2005 and 2006. These represent fundamental descriptive and explanatory structures that derive from culturally or phenomenologically salient objects or experiences, and which allow journalists, scientists, and policymakers (...) to reduce the complexity of the threat posed by a disease and to promote risk-management strategies for the disease that appear to make instinctive or intuitive sense to experts and the public. Although similar metaphor scenarios may be used over time, the kinds of reporting they are associated with and the policy scenarios that result from these framings differ depending on the perceived proximity of the disease threat. (shrink)

Pierluigi Chiassoni’s wonderful book, Interpretation without Truth,1 is an important and welcome addition to the ongoing conversations about interpretation, legal realism, and legal truth. Chiasson...

It should surprise no one familiar with the problems in rural healthcare that 87% of a randomly selected sample of Nebraskans recently called for either fundamental or complete change of the healthcare system. Rural communities in the United, States have been hard hit by the rising cost of healthcare at a time of economic and demographic decline. Unable to sustain operating costs and personnel needs, rural hospitals and medical, practices have been forced to close their doors at an, alarming rate.Furthermore, (...) rural patients are decreasingly able to afford what services are available to them. Most must purchase insurance privately because they are unlikely to be insured through employment. Therefore, they pay dearly because they are not eligible for corporate rates and because insurance companies use experience instead of community rating to assess risk. (shrink)

In lieu of an abstract, here is a brief excerpt of the content:Philosophy and Rhetoric 33.1 (2000) v [Access article in PDF] Editorial Announcement The editors wish to announce the departure of Pierre Kerszberg, who has joined the Departement de Philosophie, Universite de Toulouse-Le Mirail. We wish him the very best and are grateful for his editorial services. We are pleased to announce the appointment of Professor Richard A. Lee Jr., a specialist in the history of philosophy, as co-editor of (...) Philosophy and Rhetoric.Stephen H. Browne... (shrink)

One standard criterion for there being objectivity in an area of discourse is that there is conceptual space between what someone thinks to be the case and what actually is the case. That is, participants can be mistaken. This article explores one aspect of the objectivity debate as regards law: does it make sense to say that all legal officials or practitioners in a jurisdiction are mistaken (over a significant period of time) about some legal proposition? The possibility of legal (...) error is important to discourse within and about the law. In contrast to the views of some American legal realists, it is important to deny that law is only what the officials declare it to be. However, as this article argues, claims of long-term global error in law are more problematic. The truth of legal propositions seems to be a complex function of official actions and the meaning of the terms used in authoritative legal texts. Because of the conventional nature of law, there are problems with claiming global error regarding propositions of (within) law, the existence of legal norms, and structural priorities among types of legal norms. At times, the law may in fact simply be what officials (collectively) say it is, over the long term. However, the article also notes areas where claims of long-term global error are more sustainable: where the law incorporates a term from another discourse, or where the law purports to interpret an authoritative text. (shrink)

Despite Augustine's reputation as the father of Christian intolerance, one finds in his thought the surprising claim that within non-Christian writings there are 'some truths in regard even to the worship of the One God.' The essays here uncover provocative points of comparison and similarity between Christianity and other religions to further such an Augustinian dialogue.

Four Testaments brings together four foundational texts from world religions--the Tao Te Ching, Dhammapada, Analects of Confucius, and Bhagavad Gita--inviting readers to experience them in full, to explore possible points of connection and divergence, and to better understand people who practice these traditions.

"Nietzsche is infuriatingly difficult to comprehend as he sets to tearing down every scaffold left from the old world. Beyond Good and Evil represents Nietzsche in his maturity, being written later in life. It is also some of his clearest writing since it is intentionally polemical. None of his writing is known particularly for its moderation, but Beyond Good and Evil is written as an assault on half-hearted philosophers who are still playing about with the old world. But he is (...) a particularly infuriating read for those who see the world as made and ruled by God. He is difficult to understand since he seeks to remove everything that makes such a world comprehensible. But to say this is simply to describe our age, and for this reason Nietzsche is valuable. But be warned, he will not be trifled with. Sit with him and listen as he seeks to remove every vestige of God from the world." The Worldview Guides from the Canon Classics Literature Series provide an aesthetic and thematic Christian perspective on the most definitive and daunting works of Western Literature. Each Worldview Guide presents the big picture (both the good and the bad) without neglecting the details. Each Worldview Guide is a friendly literary coach--and a treasure map, and a compass, and a key--to help teachers, parents, and students appreciate, critique, and begin to master the classics. The bite-size WGs are divided into these ten sections (with some variation due to genre): Introduction, The World Around, About the Author, What Other Notables Said, Structure and Audience, Worldview Analysis, Quotables, 21 Significant Questions & Answers, and Further Discussion & Review. (shrink)

A number of important legal theorists have recently argued for metaphysically realist approaches to legal determinacy grounded in particular semantic theories or theories of reference, in particular, views of meaning and reference based on the works of Putnam and Kripke. The basic position of these theorists is that questions of legal interpretation and legal determinacy should be approached through semantic meaning. However, the role of authority (in the form of lawmaker choice) in law in general, and democratic systems in particular, (...) require that these realist solutions to the problem of legal determinacy be rejected, or at least significantly revised. (shrink)

This chapter contains section titled: History and Context Clarifications Alternative Legal Positivisms The Rule of Recognition and the Basic Norm The Divisions Within Contemporary Legal Positivism Debates and Distinctive Views Critiques of Legal Positivism Two Critics: Ronald Dworkin and John Finnis Methodological Questions and the Way Forward Conclusion Note References Further Reading.

There are a growing number of general theories of contract law and of other doctrinal areas. These theories are vastly ambitious in their aims. This article explores the nature of these claims, and the motivations for offering such theories, while considering the challenges to success. It is in the nature of theorizing to seek general categories, including doctrinal categories, and to try to discover insights that hold across those categories. However, differences both within a doctrinal area and across legal systems (...) undermine the case for universal and general theories. Also, unjustifiably general theories may distract us from developing properly contextual legal rules, and might even have the unintended effect of legitimating unjust rules. (shrink)

I defend the thesis that most or all perceptual experiences are infused with imaginative contributions. While the idea is not new, it has few supporters. I begin by developing a framework for the underlying debate. Central to that framework is the claim that a perceptual experience is infused with imagination if and only if there are self-generated contributions to that experience that have ampliative effect on its phenomenal and directed elements. Self-generated ingredients to experience are produced by the subject as (...) opposed to being received from the world. Some form of stored content is an obvious starting point. Ampliative effects are aspects of perceptual experience that outstrip the content the senses get from the world. This conceptual framework is applied to three case studies: object-sameness and object-kind recognition (section 2), memory colour (section 3), and perceptual constancy and amodal completion (section 4). If the three cases and my overall analysis are accepted (a substantive if), then we have a forceful inductive argument for perception being infused with imagination. (shrink)

The essays in this special issue of HEC Forum provide reflections that make explicit the implicit anthropology that our current pandemic has brought but which in the medical ethics literature around COVID-19 has to a great extent ignored. Three of the essays are clearly “journalistic” as a literary genre: one by a hospital chaplain, one by a medical student in her pre-clinical years, and one by a fourth-year medical student who reports her experience as she completed her undergraduate clerkships and (...) applied for positions in graduate medical education. Other essays explore the pandemic from historical, sociological, and economic perspectives, particularly how triage policies have been found to be largely blind to structural healthcare disparities, while simultaneously unable to appropriately address those disparities. Central issues that need to be addressed in triage are not just whether a utilitarian response is the most just response, but what exactly is the greatest good for the greatest number? Together, the essays in this special issue of HEC Forum create a call for a more anthropological approach to understanding health and healthcare. The narrow approach of viewing health as resulting primarily from healthcare will continue to hinder advances and perpetuate disparities. Health outcomes result from a complex interaction of various social, economic, cultural, historical, and political factors. Advancing healthcare requires contextualizing the health of populations amongst these factors. The COVID-19 pandemic has made us keenly aware of how interdependent our health as a society can be. (shrink)