Background Families whose child has unexplained intellectual or developmental differences often hope that a genetic diagnosis will lower barriers to community-based therapeutic and support services. However, there is little known about efforts to mobilize genetic information outside the clinic or how socioeconomic disadvantage shapes and constrains outcomes.Methods We conducted an ethnographic study with predominantly socioeconomically disadvantaged families enrolled in a multi-year genomics research study, including clinic observations and in-depth interviews in English and Spanish at multiple time points. Coding and thematic (...) development were used to collaboratively interpret fieldnotes and transcripts.Results Thirty-two families participated. Themes included familial expectations that a genetic diagnosis could be translated into information, understanding, and assistance to improve the quality of a child’s day-to-day life. After sequencing, however, genetic information was not readily converted into improved access to services beyond the clinic, with families often struggling to use a genetic diagnosis to advocate for their child.Conclusion Families’ ability to use a genetic diagnosis as an effective advocacy tool beyond the clinic was limited by the knowledge and resources available to them, and by the eligibility criteria used by therapeutic service providers’ – which focused on clinical diagnosis and functional criteria more than etiologic information. All families undertaking genomic testing, particularly those who are disadvantaged, need additional support to understand the limits and potential benefits of genetic information beyond the clinic. (shrink)

The two target articles in this issue bring into focus the struggle for governance over biomedical interventions that may offer some families more agency—the capacity to act—in the context of many...

This volume is a collection of papers from the Third Consultation on Hermeneutics at Drew University. The goal of this conference was, in Hopper's words, to "question what kind of language, or thinking, is appropriate to a fundamental ontology, to a language that does not commit objectification, or reification, upon its subject matter in the very mode of its utterance." The first essay in the volume was not read at the conference, but is reprinted from a 1961 Harper's magazine, namely, (...) Norman O. Brown's "Apocalypse: the Place of Mystery in the Life of the Mind." It is unfortunate that Brown is given the place of honor in this collection, since his essay is somewhat offensive and irresponsible. Consider, for example: "Truth is what any fool can see. This is what is meant by so-called scientific method. So-called science is that attempt to democratize knowledge—the attempt to substitute method for insight, mediocrity for genius, by getting a standard operating procedure," or "Vacancy is not the worst condition of mind." Of the remaining papers in this book, the high-points are Kenneth Burke's "Theory of Terminology," a reader's key to his many fine writings on figurative language, Beda Allemann's "Metaphor and Antimetaphor," an interesting analysis of Kafka's prose style, and Owen Barfield's "Imagination and Inspiration," an essay on the difficulties of talking about spiritual experiences in understandable language. In fact, Barfield levels the most relevant criticism at this symposium when he cautions that "very different considerations apply to the exercise of the imagination on the one hand, and, on the other, any attempt to investigate its nature."—E. H. W. (shrink)

Russell articulates compelling reasons that bioethicists and health care professionals should take individual responsibility for deconstructing structural injustices in healthcare through in...

Next SectionIn an online study conducted separately in the UK and the US, participants rated the acceptability and fairness of four interventions: two types of financial incentives and two types of medical interventions. These were stated to be equally effective in improving outcomes in five contexts: weight loss and smoking cessation programmes, and adherence in treatment programmes for drug addiction, serious mental illness and physiotherapy after surgery. Financial incentives were judged less acceptable and to be less fair than medical interventions (...) across all five contexts. Context moderated the relative preference between rewards and penalties: participants from both countries favoured rewards over penalties in weight loss and treatment for serious mental illness. Only among US participants was this relative preference moderated by perceived responsibility of the target group. Overall, participants supported funding more strongly for interventions when they judged members of the target group to be less responsible for their condition, and vice versa. These results reveal a striking similarity in negative attitudes towards the use of financial incentives, rewards as well as penalties, in improving outcomes across a range of contexts, in the UK and the USA. The basis for such negative attitudes awaits further study. (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)

Brock Macdonald1, Evi Vakiani2, Rhonda K Yantiss3, Jun Lee4, Robert S Brown Jr5, Samuel H Sigal61Division of Gastroenterology, Department of Medicine, University of California-San Francisco, San Francisco, CA, 2Department of Pathology, Memorial Sloan–Kettering Cancer Center, New York, NY, 3Department of Pathology and Laboratory Medicine, New York Weill Cornell Medical College, New York, NY, 4Division of Nephrology, Department of Medicine, Weill Cornell Medical College, New York, NY, 5Division of Gastroenterology, Department of Medicine, Columbia University College of Physicians and Surgeons, New (...) York, NY, 6Division of Gastroenterology and Hepatology, Department of Medicine, New York University, New York, NY, USA: The use of sirolimus as an alternative to calcineurin inhibitors for posttransplant immunosuppression is associated with a variety of inflammatory conditions. In this report, we describe the case of a 34-year-old man who developed abnormal liver tests 6 years after live-donor kidney transplantation and 5 years after initiation of sirolimus-based immunosuppression. Elevated aminotransferase levels persisted after withdrawal of potentially hepatotoxic medications, and serologic evaluation for viral hepatitis, autoimmune disease, and genetic disorders was unrevealing. Liver biopsy revealed prominent hepatocellular injury associated with a mixed inflammatory infiltrate and liver tests normalized within 2 weeks of discontinuation of sirolimus. In this report, we review previous reports of sirolimus hepatotoxicity and propose a unifying hypothesis for the various inflammatory conditions that have been attributed to sirolimus.Keywords: sirolimus, immunosuppression, transplant, inflammatory conditions, hepatotoxicity. (shrink)

In this article, we outline a novel approach to understanding the role of responsibility in health promotion. Efforts to tackle chronic disease have led to an emphasis on personal responsibility and the identification of ways in which people can ‘take responsibility’ for their health by avoiding risk factors such as smoking and over-eating. We argue that the extent to which agents can be considered responsible for their health-related behaviour is limited, and as such, state health promotion which assumes certain forms (...) of moral responsibility should be avoided. This indicates that some approaches to health promotion ought not to be employed. We suggest, however, that another form of responsibility might be more appropriately identified. This is based on the claim that agents have prudential reasons to maintain their health, in order to pursue those things which make their lives go well—i.e. that maintenance of a certain level of health is rational for many agents, given their pleasures and plans. On this basis, we propose that agents have a self-regarding prudential responsibility to maintain their health. We outline the implications of a prudential responsibility approach to health promotion. (shrink)

Properties sometimes attributed to the “particle” aspect of a neutron, e.g., mass and magnetic moment, cannot straightforwardly be regarded in the Bohm interpretation of quantum mechanics as localized at the hypothetical position of the particle. This is shown by examining a series of effects in neutron interferometry. A related thought-experiment also provides a variation of a recent demonstration that which-way detectors can appear to behave anomolously in the Bohm theory.

This chapter describes the potential far‐reaching consequences of contemplative higher education for the fields of science and medicine.

In recent years, we have seen a new concern with ethics training for research and development professionals. Although ethics training has become more common, the effectiveness of the training being provided is open to question. In the present effort, a new ethics training course was developed that stresses the importance of the strategies people apply to make sense of ethical problems. The effectiveness of this training was assessed in a sample of 59 doctoral students working in the biological and social (...) sciences using a pre–post design with follow-up and a series of ethical decision-making measures serving as the outcome variable. Results showed not only that this training led to sizable gains in ethical decision making but also that these gains were maintained over time. The implications of these findings for ethics training in the sciences are discussed. (shrink)

Loosely put, colour constancy for example occurs when you experience a partly shadowed wall to be uniformly coloured, or experience your favourite shirt to be the same colour both with and without sunglasses on. Controversy ensues when one seeks to interpret ‘experience’ in these contexts, for evidence of a constant colour may be indicative a constant colour in the objective world, a judgement that a constant colour would be present were things thus and so, et cetera. My primary aim is (...) to articulate a viable conception of Present Constancy, of what occurs when a constant colour is present in experience, despite the additional presence of some experienced colour variation (e.g., correlating to a change in illumination). My proposed conception involves experienced colour layering – experiencing one opaque colour through another transparent one – and in particular requires one of those experienced layers to remain constant while the other changes. The aim is not to propose this layering conception of colour constancy as the correct interpretation of all constancy cases, but rather to develop the conception enough to demonstrate how it could and plausibly should be applied to various cases, and the virtues it has over rivals. Its virtues include a seamless application to constancy cases involving variations in filters (e.g., sunglasses) and illuminants; its ability to accommodate experiences of partial colours and error-free interpretations of difficult cases; and its broad theoretical-neutrality, allowing it to be incorporated into numerous perceptual epistemologies and ontologies. If layered constancy is prevalent, as I suspect it is, then our experiential access to colours is critically nuanced: we have been plunged into a world of colour without being told that we will rarely, if ever, look to a location and experience just one of them. (shrink)

This research applies the impression management theory of exemplification in an accounting study by identifying and measuring differences in both auditor and public perceptions of exemplary behaviors. The auditors were divided into two groups, one of which reported self-perceptions (A-S) while the other group reported their perceptions of a typical auditor (A-O). There were two separate public groups, which gave their perceptions of a typical auditor and were divided based on their levels of accounting sophistication. The more sophisticated public group (...) was comprised of bank loan officers (LO) while the less sophisticated public group consisted of investment club members (IC). Comparisons were made on 30 behaviors contained in the AICPA Code of Professional Conduct, which served as the basis for the research instrument. Profile analysis, a special form of MANOVA technique, was used to analyze the results. A-S perceptions were the highest of the four treatment levels and were significantly higher (i.e., more exemplary) than the perceptions of both the A-O and LO groups. The more sophisticated user group (LO) provided the lowest perceptions of the four treatment levels. For at least four of the six measures, the LO treatment group perceived the typical auditor to be less exemplary than both the IC and A-O treatments. There were no differences in perceptions between the A-O group and IC. Additional analysis revealed that auditors overrated the degree to which the public relied on financial statements. However, both public groups reported a reasonably high level of reliance on financial statements when making decisions. (shrink)

Evolutionary developmental biology (evo-devo) has undergone dramatic transformations since its emergence as a distinct discipline. This paper aims to highlight the scope, power, and future promise of evo-devo to transform and unify diverse aspects of biology. We articulate key questions at the core of eleven biological disciplines—from Evolution, Development, Paleontology, and Neurobiology to Cellular and Molecular Biology, Quantitative Genetics, Human Diseases, Ecology, Agriculture and Science Education, and lastly, Evolutionary Developmental Biology itself—and discuss why evo-devo is uniquely situated to substantially improve (...) our ability to find meaningful answers to these fundamental questions. We posit that the tools, concepts, and ways of thinking developed by evo-devo have profound potential to advance, integrate, and unify biological sciences as well as inform policy decisions and illuminate science education. We look to the next generation of evolutionary developmental biologists to help shape this process as we confront the scientific challenges of the 21st century. (shrink)

This is a review of Athanassios Raftopoulos "Cognition and perception: How do psychology and neuroscience inform philosophy?" (MIT Press, 2009). Raftopoulos defends the modularity of vision, i.e. early vision not penetrable by other processes. He maintains that early vision forms and outputs a kind of nonconceptual content to subsequent stages of vision and cognition. The work is heavily informed by visual neuroscience and embedded in familiar debates about scientific realism. It is also an important contribution to the now-popular debates about (...) the cognitive penetration of perception. (shrink)

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)

Just Ecological Integrity presents a collection of revised and expanded essays originating from the international conference "Connecting Environmental Ethics, Ecological Integrity, and Health in the New Millennium" held in San Jose, Costa Rica in June 2000. It is a cooperative venture of the Global Ecological Integrity Project and the Earth Charter Initiative.

Sensory substitution devices (SSDs) are most familiar from their use with subjects who are deficient in a target modality (e.g. congenitally blind subjects), but there is no doubt that the use and potential value of SSDs extend to persons without such deficits. Recent work by Amedi and his team (in particular Levy-Tzedek et al. 2012) has begun to explore this. Their idea is that SSDs may facilitate behavioural transference (BT) across sense modalities. In this case, a motor skill learned through (...) visual perception might be subsequently employed in response to auditory perception, using an SSD as a mediator. They infer from the existence of such BT that the learned skill is amodally represented. After a brief overview I identify ways to more fully test for BT within this experimental paradigm and argue that their conclusion about amodal representation is premature. Additionally, I argue that their preferred SSD (Eyemusic) is of limited value for the project. While my remarks are critical, my intention is to be constructive, particularly in light of the fact that Levy-Tzedek et al. (2012), is, I believe, the first output from Amedi's lab concerning this line of research. (shrink)

Science fiction is often held up as a particularly philosophical genre. For, beyond actualising mind-experiment-like fantasies, science fiction films also commonly toy with speculative ideas, or else engineer encounters with the strange and unknown. Denis Villeneuve's Arrival is a contemporary science fiction film that does exactly this, by introducing Lovecraft-esque tentacular aliens whose arrival on Earth heralds in a novel, but ultimately paralysing, inhuman perspective on the nature of time and reality. This article shows how this cerebral film invites viewers (...) to confront a counterintuitive model of time that at once recalls and reposes what Gilles Deleuze called a “third synthesis” of time, and that which J. M. E. McTaggart named the a-temporal “C series” of “unreal” time. We finally suggest that Arrival's a-temporal conception of the future as having already happened can function as a key to understanding the fate of humanity as a whole as we pass from the anthropocene, in which humans have... (shrink)