Fragile X syndrome is the most common cause of inherited mental retardation in humans. The fragile X gene (FMR1) has been cloned and the mutation causing the disease is known. The molecular basis of the disease is an expansion of a trinucleotide repeat sequence (CGG) present in the first exon within the 5′ untranslated region of the FMR1 gene. Affected individuals have repeat CGG sequences of above 200. As a result the gene is not producing protein. It has been shown (...) that the FMR1 protein has RNA binding activity, but the function of this RNA binding activity is not known. The timing and mechanism of repeat amplification are not yet understood. An animal model for fragile X syndrome has been generated, which can be used to study the clinical and biochemical abnormalities caused by absence of FMR1 protein product. (shrink)

Over 20 unstable microsatellite repeats have been identified as the cause of neurological disease in humans. The repeat nucleotide sequences, their location within the genes, the ranges of normal and disease‐causing repeat length and the clinical outcomes differ. Unstable repeats can be located in the coding or the non‐coding region of a gene. Different pathogenic mechanisms that are hypothesised to underlie the diseases are discussed. Evidence is given both from studies in simple model systems and from studies on human material (...) and in animal models. Since somatic instability might affect the clinical outcome, this is briefly touched on. Available data and theories on the timing and mechanisms of the repeat instability itself are discussed, along with factors that have been observed to affect instability. Finally, the question of why the often harmful unstable repeats have been maintained throughout evolution is addressed. (shrink)

Providing a bold and original rethinking of environmental ethics, Ben Minteer's Refounding Environmental Ethics will help ethicists and their allies resolve critical debates in environmental policy and conservation practice. Minteer considers the implications of John Dewey's pragmatist philosophy for environmental ethics, politics, and practice. He provides a new and compelling intellectual foundation for the field - one that supports a more activist, collaborative, and problem-solving philosophical enterprise. Combining environmental ethics, democratic theory, philosophical pragmatism, and the environmental social sciences, Minteer makes (...) the case for a more experimental, interdisciplinary, and democratic style of environmental ethics - one that stands as an alternative to the field's historically dominant "nature-centred" outlook. Minteer also provides examples of his pragmatic approach in action, considering a wide range of application and issues, including invasive species, ecological research, biodiversity loss, protected area management, and conservation under global climate change. (shrink)

Many nonanthropocentric environmental ethicists subscribe to a ``principle-ist'''' approach to moral argument, whereby specific natural resource and environmental policy judgments are deduced from the prior articulation of a general moral principle. More often than not, this principle is one requiring the promotion of the intrinsic value of nonhuman nature. Yet there are several problems with this method of moral reasoning, including the short-circuiting of reflective inquiry and the disregard of the complex nature of specific environmental problems and policy arguments. In (...) the present paper, we advance an alternative, pragmatic contextualist approach to environmental ethics, one grounded in the moral theory of John Dewey. We present the results of an empirical study of public environmental ethics and natural resource management attitudes to support our position, and we conclude with a few recommendations for future inquiry in the field of environmental ethics. (shrink)

Conventional wisdom suggests that environmental pragmatists balk at the mere mention of intrinsic value. Indeed, the leading expositor of the pragmatic position in environmental philosophy, Bryan Norton, has delivered withering criticisms of the concept as it has been employed by nonanthropocentrists in the field. Nevertheless, I believe that Norton has left an opening for a recognition of intrinsic value in his arguments, albeit a version that bears little resemblance to most of its traditional incarnations. Drawing from John Dewey’s contextual approach (...) toward moral inquiry, I offer a reconstructed notion of intrinsic value that avoids the metaphysical pitfalls identified by Norton. I argue that this contextual understanding of noninstrumental claims has the advantage of turning our attention toward, and not away from, the critical realm of practice and policy, and that it is especially compatible with the norms of democratic deliberation. By way of example and in defense of my position, I conclude with a rejoinder to Holmes Rolston’s claims about the role of foundational intrinsic value commitments in settling the human-nature dilemma at Royal Chitwan National Park in Nepal. (shrink)

This book provides a richly interdisciplinary assessment of the thought and work of Bryan Norton, one of most innovative and influential environmental philosophers of the past thirty years. In landmark works such as Toward Unity Among Environmentalists and Sustainability: A Philosophy of Adaptive Ecosystem Management, Norton charted a new and highly productive course for an applied environmental philosophy, one fully engaged with the natural and social sciences as well as the management professions. A Sustainable Philosophy gathers together a distinguished group (...) of scholars and professionals from a wide array of fields to engage Norton’s work and its legacy for our shared environmental future. A study in the power of intellectual legacy and the real-world influence of philosophy, the book will be of great interest scholars and students in environmental philosophy, public policy and management, and environmental and sustainability studies. By considering the value and impact of Norton’s body of work it will also chart a course for the next generation of pragmatic environmental philosophers and sustainability scholars grappling with questions of environmental value, knowledge, and practice in a rapidly changing world. (shrink)

Ecological research and conservation practice frequently raise difficult and varied ethical questions for scientific investigators and managers, including duties to public welfare, nonhuman individuals (i.e., animals and plants), populations, and ecosystems. The field of environmental ethics has contributed much to the understanding of general duties and values to nature, but it has not developed the resources to address the diverse and often unique practical concerns of ecological researchers and managers in the field, lab, and conservation facility. The emerging field of (...) “ecological ethics” is a practical or scientific ethics that offers a superior approach to the ethical dilemmas of the ecologist and conservation manager. Even though ecological ethics necessarily draws from the principles and commitments of mainstream environmental ethics, it is normatively pluralistic, including as well the frameworks of animal, research, and professional ethics. It is also methodologically pragmatic, focused on the practical problems of researchers and managers and informed by these problems in turn. The ecological ethics model offers environmental scientists and practitioners a useful analytical tool for identifying, clarifying, and harmonizing values and positions in challenging ecological research and management situations. Just as bioethics provides a critical intellectual and problem-solving service to the biomedical community, ecological ethics can help inform and improve ethical decision making in the ecology and conservation communities. (shrink)

Objectives To conduct an independent evaluation of the first phase of the Health Foundation’s Safer Patients Initiative (SPI), and to identify the net additional effect of SPI and any differences in changes in participating and non-participating NHS hospitals. Design Mixed method evaluation involving five substudies, before and after design. Setting NHS hospitals in the United Kingdom. Participants Four hospitals (one in each country in the UK) participating in the first phase of the SPI (SPI1); 18 control hospitals. Intervention The SPI1 (...) was a compound (multi-component) organisational intervention delivered over 18 months that focused on improving the reliability of specific frontline care processes in designated clinical specialties and promoting organisational and cultural change. Results Senior staff members were knowledgeable and enthusiastic about SPI1. There was a small (0.08 points on a 5 point scale) but significant (P<0.01) effect in favour of the SPI1 hospitals in one of 11 dimensions of the staff questionnaire (organisational climate). Qualitative evidence showed only modest penetration of SPI1 at medical ward level. Although SPI1 was designed to engage staff from the bottom up, it did not usually feel like this to those working on the wards, and questions about legitimacy of some aspects of SPI1 were raised. Of the five components to identify patients at risk of deterioration—monitoring of vital signs (14 items); routine tests (three items); evidence based standards specific to certain diseases (three items); prescribing errors (multiple items from the British National Formulary); and medical history taking (11 items)—there was little net difference between control and SPI1 hospitals, except in relation to quality of monitoring of acute medical patients, which improved on average over time across all hospitals. Recording of respiratory rate increased to a greater degree in SPI1 than in control hospitals; in the second six hours after admission recording increased from 40% (93) to 69% (165) in control hospitals and from 37% (141) to 78% (296) in SPI1 hospitals (odds ratio for “difference in difference” 2.1, 99% confidence interval 1.0 to 4.3; P=0.008). Use of a formal scoring system for patients with pneumonia also increased over time (from 2% (102) to 23% (111) in control hospitals and from 2% (170) to 9% (189) in SPI1 hospitals), which favoured controls and was not significant (0.3, 0.02 to 3.4; P=0.173). There were no improvements in the proportion of prescription errors and no effects that could be attributed to SPI1 in non-targeted generic areas (such as enhanced safety culture). On some measures, the lack of effect could be because compliance was already high at baseline (such as use of steroids in over 85% of cases where indicated), but even when there was more room for improvement (such as in quality of medical history taking), there was no significant additional net effect of SPI1. There were no changes over time or between control and SPI1 hospitals in errors or rates of adverse events in patients in medical wards. Mortality increased from 11% (27) to 16% (39) among controls and decreased from 17% (63) to 13% (49) among SPI1 hospitals, but the risk adjusted difference was not significant (0.5, 0.2 to 1.4; P=0.085). Poor care was a contributing factor in four of the 178 deaths identified by review of case notes. The survey of patients showed no significant differences apart from an increase in perception of cleanliness in favour of SPI1 hospitals. Conclusions The introduction of SPI1 was associated with improvements in one of the types of clinical process studied (monitoring of vital signs) and one measure of staff perceptions of organisational climate. There was no additional effect of SPI1 on other targeted issues nor on other measures of generic organisational strengthening. (shrink)

Bryan Norton 's convergence hypothesis, which predicts that nonanthropocentric and human-based philosophical positions will actually converge on long-sighted, multi-value environmental policy, has drawn a number of criticisms from within environmental philosophy. In particular, nonanthropocentric theorists like J. Baird Callicott and Laura Westra have rejected the accuracy of Norton 's thesis, refusing to believe that his model's contextual appeals to a plurality of human and environmental values will be able adequately to provide for the protection of ecological integrity. These theoretical criticisms (...) of convergence, however, have made no real attempt to engage the empirical validity of the hypothesis, the dimension that Norton clearly takes to be the centerpiece of his project. Accordingly, the present paper attempts to provide an empirical analysis of the convergence argument, by means of a study of the Vermont public's environmental commitments and their attitudes toward national forest policy. Our findings support a generalized version of Norton 's thesis, and lead us to suggest that environmental philosophers should try to be more inclusive and empirically minded in their discussions about public moral claims regarding nature. (shrink)

The concept of person is integral to bioethical discourse because persons are the proper subject of the moral domain. Nevertheless, the concept of person has played no role in the prevailing formulation of human death because of a purported lack of consensus concerning the essential attributes of a person. Beginning with John Locke's fundamental proposition that person is a ‘forensic term’, I argue that in Western society we do have a consensus on at least one necessary condition for personhood, and (...) that is the capacity for conscious experience. When we consider the whole brain formulation of death, and the most prominent defense of it by the President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research, we can readily identify the flaws that grow out of the failure to define human death as the permanent loss of the capacity for conscious experience. Most fundamental among these flaws is a definition of human death that reduces persons to the capacity of the brain to regulate purely physiological functioning. Such a formulation would, in theory, apply to any member of the animal kingdom. I suggest that an appropriate concept of death should capture what it is about a particular living being that is so essential to it that the permanent loss of that thing constitutes death. What is essential to being a human being is living the life of a person, which derives from the capacity for conscious experience. (shrink)

Abstract:Recently the scope of protections afforded those healthcare professionals and institutions that refuse to provide certain interventions on the grounds of conscience have expanded, in some instances insulating providers (institutional and individual) from any liability or sanction for harms that patients experience as a result. With the exponential increase in the penetration of Catholic-affiliated healthcare across the country, physicians and nurses who are not practicing Catholics are nevertheless required to execute documents pledging to conform their patient care to the Ethical (...) and Religious Directives for Health Care Services as a condition of employment or medical staff privileges. In some instances, doing so may result in patient morbidity or mortality or violate professional standards for respecting advance directives or surrogate decisionmaking. This article challenges the ethical propriety of such institutional mandates and argues that legal protections for conscientious refusal must provide redress for patients who are harmed by care that falls below the prevailing clinical standards. (shrink)

Prognostication, the process offormulating and communicating a prognosis, isno longer considered by most physicians to bean essential task in caring for patients withserious illness. Because of this fact, it isnot surprising to find that when physiciansattempt to engage in prognostication, they doit poorly. What may be surprising to thoseoutside the medical community is the extent towhich professional norms have developed whichactively discourage physicians from engaging inprognostication. This article explores thecauses of this state of affairs and thejustifications offered for it. The (...) conclusionis reached that physicians have a professionalresponsibility to competently engage inprognostication based upon the doctrine ofinformed consent, and that a failure or refusalto do so has not only potential legalramifications, but serious negativeimplications for many of the core issues inbioethics, such as the use of advancedirectives, palliative medicine, and medicalfutility. (shrink)

Few disputes in the annals of US environmentalism enjoy the pedigree of the conservation-preservation debate. Yet, although many scholars have written extensively on the meaning and history of conservation and preservation in American environmental thought and practice, the resonance of these concepts outside the academic literature has not been sufficiently examined. Given the significance of the ideals of conservation and preservation in the justification of environmental policy and management, however, we believe that a more detailed analysis of the real-world use (...) and understanding of these ideas is needed. In this paper, we describe the results of a qualitative, semantic study of the concepts of conservation and preservation undertaken in the context of the Chattahoochee National Forest (CNF), located in northern Georgia (USA). Thirty in-depth interviews were conducted with scientists and north Georgia residents either interested or involved in the future management of the forest. Respondents were asked to define conservation and preservation in their own words and to indicate which approach they felt was more appropriate for the management of the CNF. Qualitative content analysis was used to elicit a set of recurring themes for each foundational concept. Taken together, these themes help to flesh out the meaning of conservation and preservation for citizens and scientists today, and illustrate the evolving nature of two of the more significant and venerable ideas animating US environmental policy and management. (shrink)

The American Journal of Bioethics, Volume 11, Issue 6, Page 52-53, June 2011.

Most environmental ethicists adhere to a standard intellectual history of the field, one that explains and justifies the dominant commitments to nonanthropocentrism, moral dualism, and wilderness/wildlife preservation. Yet this narrative—which finds strong support in the work of first generation environmental historians—is at best incomplete. It has tended to ignore those philosophical projects and thinkers in the American environmental tradition that challenge the received history and the established conceptual categories and arguments of environmental ethics. One such figure is the agrarian thinker, (...) conservationist, and rural reformer, Liberty Hyde Bailey. A writer whose environmental philosophy combined biocentric attitudes toward nature with more humanistic concerns about intergenerational fairness and civic responsibility, Bailey remains an invisible figure in environmental ethics, despite his clear influence on the later work of such conservation luminaries as Aldo Leopold, Wendell Berry, Wes Jackson, and others. We would benefit from a recovery of Bailey’s environmental philosophy, especially his articulation of a pluralistic ethical outlook defined by the melding of anthropocentric moral and civic concerns with biocentric commitments regarding the beauty and resilience of the properly cultivated landscape. (shrink)

Two important assumptions of behavioral momentum theory are contradicted by existing data. Resistance to change is not due simply to the Pavlovian contingency between a discriminative stimulus and the rate of reinforcement in its presence, because variations in the response-reinforcer contingency, independent of the stimulus-reinforcer contingency, produce differential resistance to change. Resistance to change is also not clearly related to measures of preference, in that several experiments show the two measures to dissociate.

Until quite recently bioethicists have had little of depth and probity to say about the duty of healthcare professionals in general and physicians in particular to relieve pain and suffering associated with disease and/or its treatment.

Abstract:Recent contributions to the medical literature have raised yet again the issue of whether the term “terminal” is an intelligible one and whether there is a consensus view of its meaning that is sufficient to justify or even require its use in discussing end-of-life care and treatment options with patients. Following a review of the history and development of informed consent, persistent problems with the communication of prognosis and the breaking of bad news are analyzed. The author argues that candid (...) but compassionate communication between physicians and patients about prognosis is essential to informed decisions about both disease-directed (curative) and palliative therapies. (shrink)

Abstract:The specialty of psychiatry has a long-standing, virtually monolithic view that a desire to die, even a desire for a hastened death among the terminally ill, is a manifestation of mental illness. Recently, psychiatry has made significant inroads into hospice and palliative care, and in doing so brings with it the conviction that dying patients who seek to end their suffering by asserting control over the time and manner of their inevitable death should be provided with psychotherapeutic measures rather than (...) having their expressed wishes respected as though their desire for an earlier death were the rational choice of someone with decisional capacity. This article reviews and critiques this approach from the perspective of recent clinical data indicating that patients who secure and utilize a lethal prescription are generally exercising an autonomous choice unencumbered by clinical depression or other forms of incapacitating mental illness. (shrink)

(2013). Distinguishing Difficult Patients From Difficult Maladies. The American Journal of Bioethics: Vol. 13, No. 4, pp. 24-26. doi: 10.1080/15265161.2013.767957.

Benton MacKaye's name is rarely evoked in the fields of environmental history and philosophy. The author of the Appalachian Trail in the early 1920s and a co-founder of the Wilderness Society with Aldo Leopold and Bob Marshall in the 1930s, MacKaye's unique contribution to American environmental thought is seldom recognized. This neglect is particularly egregious in the current debate over the intellectual foundations of the American wilderness idea, a discussion to which I believe MacKaye has much to contribute. Specifically, I (...) believe that his pragmatic vision for wilderness conservation, a project supported through an appeal to the values of a reconstructed "indigenous" communal environment, owes much to the social philosophy of Josiah Royce, MacKaye's former teacher at Harvard. While the Appalachian Trail never delivered on MacKaye's goals of progressive reform and failed to unite the regional planning and conservation communities of the time, his vision remains highly relevant to our present-day deliberations about the relationship between wild nature and society at the dawn of the 21st century. (shrink)

A decision by the Supreme Court of California in the case Conservatorship of Wendland, issued in August 2001, forces us once again to confront the all-too-common situation in which an individual has, on multiple occasions, expressed strongly held personal convictions about life-sustaining interventions but failed to incorporate those convictions into a formal advance directive. Many courts have recognized that lay citizens do not consistently resort to written legal formalities in their day-to-day lives, and reasonable accommodation must be made to this (...) fundamental fact about human nature. However, a small but apparently growing minority of courts adamantly insist on either formal written directives or prescience and prophetic precision on the part of the patient before a surrogate can direct the withdrawal of life-sustaining treatment. The chronology of cases that comprise this minority position in American medical jurisprudence raise important ethical issues. (shrink)

A growing number of contributors to environmental philosophy are beginning to rethink the field’s mission and practice. Noting that the emphasis of protracted conceptual battles over axiology may not get us very far in solving environmental problems, many environmental ethicists have begun to advocate a more pragmatic, pluralistic, and policy-based approach in philosophical discussions abouthuman-nature relationships. In this paper, we argue for the legitimacy of this approach, stressing that public deliberation and debate over alternative environmental ethics is necessary for a (...) culture of democracy to be upheld in decision making and policy formulation. Then we argue for a democratically tempered environmental ethics that is grounded in a practical understanding of the character of moral claims regarding the natural world. We offer the results of an empirical study of environmental ethics held by the public to illustrate the diversity in their moral commitments to nature. Finally, we conclude with a discussion of the implications of this ethical pluralism for policy discussions about the management of American public lands. (shrink)

Bryan Norton's convergence hypothesis, which predicts that nonan‐thropocentric and human‐based philosophical positions will actually converge on long‐sighted, multi‐value environmental policy, has drawn a number of criticisms from within environmental philosophy. In particular, nonanthropocentric theorists like J. Baird Callicott and Laura Westra have rejected the accuracy of Norton's thesis, refusing to believe that his model's contextual appeals to a plurality of human and environmental values will be able adequately to provide for the protection of ecological integrity. These theoretical criticisms of convergence, (...) however, have made no real attempt to engage the empirical validity of the hypothesis, the dimension that Norton clearly takes to be the centerpiece of his project. Accordingly, the present paper attempts to provide an empirical analysis of the convergence argument, by means of a study of the Vermont public's environmental commitments and their attitudes toward national forest policy. Our findings support a generalized version of Norton's thesis, and lead us to suggest that environmental philosophers should try to be more inclusive and empirically minded in their discussions about public moral claims regarding nature. (shrink)

In the mid to late 1980s a debate arose over the moral and legal authority of advance medical directives. At the center of this debate were two point-counterpoint law journal articles by Rebecca Dresser and Nancy Rhoden. What appeared to have the makings of an ongoing critical dialogue ended with the untimely death of Nancy Rhoden. Rebecca Dresser, however, has continued her challenge of advance directives in numerous publications, most recently in a critique of Ronald Dworkin's Life's Dominion. Like Rhoden, (...) Dworkin has been a staunch advocate of advance directives as an exercise of what has come to be referred to as prospective or precedent autonomy. In this paper I will consider a number of the issues that Dresser has repeatedly raised about the infirmities of advance directives, and suggest that it is from an understanding of and appreciation for the narrative dimension of the life of a person that advanced directives draw one of their most powerful justifications. (shrink)

In Democracy and the Claims of Nature, the leading thinkers in the fields of environmental, political, and social theory come together to discuss the tensions and sympathies of democratic ideals and environmental values. The prominent contributors reflect upon where we stand in our understanding of the relationship between democracy and the claims of nature. Democracy and the Claims of Nature bridges the gap between the often competing ideals of the two fields, leading to a greater understanding of each for the (...) other. (shrink)