Recent findings emphasize the complexity, both genetic and functional, of the manifold genes and mutations causing inherited retinal degeneration in humans. Knowledge of the genetic bases of these diseases can contribute to design of rational therapy, as well as elucidating the function of each gene product in normal visual processes.

Diseases causing inherited retinal degeneration in humans, such as retinitis pigmentosa and macular dystrophy, are genetically heterogeneous and clinically diverse. More than 40 genes causing retinal degeneration have been mapped to specific chromosomal sites; of these, at least 10 have been cloned and characterized. Mutations in two proteins, rhodopsin and peripherin/RDS, account for approximately 35% of all cases of autosomal dominant retinitis pigmentosa and a lesser fraction of other retinal conditions. This target article reviews the genes and mutations causing retinal (...) degeneration and proposes mechanisms whereby specific mutations lead to particular clinical consequences, that is, the relationship between genotype and phenotype. Retinitis pigmentosa and macular dystrophy are genetically heterogeneous diseases that cause retinal degeneration in humans and often result in severe visual impairment or blindness. Although many of the genes causing these diseases have not been identified, three photoreceptor-specific proteins have been implicated: rhodopsin, peripherin/RDS, and the P-subunit of rod phosphodiesterase. Mutations in the genes for these three proteins can cause either dominant retinitis pigmentosa, recessive retinitis pigmentosa, dominant congenital stationary night blindness, or dominant macular degeneration. Why this multiplicity of clinical phenotypes? Our target article summarizes the genetic and biochemical background to this question and proposes a number of possible explanations. Discussion focuses mainly on 73 distinct disease-causing mutations of rhodopsin. We feel that rhodopsin and other photoreceptor proteins can serve as model systems for unraveling the connection between genotype and phenotype, not only for inherited retinal diseases but for other degenerative disorders as well. (shrink)

This article aims to focus on how signatories versus nonsignatories in the U.S. pharmaceutical sector compare with respect to the internal and external stakeholders and principles of the United Nations Global Compact (UNGC). We seek to answer the question: Do signatories to the UNGC walk the talk better than nonsignatories as determined by a variety of published rankings and data? This research presents an innovative approach to the evaluation of UNGC signatories. It uses several objective and independent data sources to (...) assess a matched group of signatories versus nonsignatories in the U.S. pharmaceutical sector. Signatory organizations in the same sector as determined by SIC codes were matched with nonsignatories on variables such as size and number of employees in U.S. pharmaceutical companies. Then both types of organizations were compared on the following data sources: Coalition for Environmentally Responsible Economies ratings, ratings by external stakeholders, ratings by employees, unionization data, financial measures, and annual reports to shareholders. Using nonparametric testing the research found there are differences between signatories and nonsignatories in the U.S. pharmaceutical sector for some of the external stakeholder measures and no differences were found for the internal stakeholder measures. (shrink)

This study examines the theory of planned behavior and the multidimensional ethics scale. Variables from both are included to determine which ones significantly correlate with student ethical behavioral intention in an academic setting. Using a survey, responses are collected from undergraduate business students from two southwestern universities in the United States using a scenario-based approach, looking at individual situations and group situations. SmartPLS was used to assess the results for four scenarios. From the theory of planned behavior, attitude was a (...) significant predictor of behavioral intention across all four scenarios while subjective norm was significant in one scenario. From the multidimensional ethics scale, moral equity and relativism were significant in one group scenario while moral equity and utilitarianism were each significant in an individual scenario. The findings indicate support for the use of the TPB and the MES when exploring ethics in an academic setting and for the need to study both individual and group situations. A discussion of the findings and implications is given. (shrink)

"This book is a succinct, pedagogically designed introduction. As classroom text, Sullivan's work is heady with vibrant debate and slim heuristics; her intellectual clarity is stunning." - Choice A Critical Introduction to Queer Theory explores the ways in which sexuality, subjectivity and sociality have been discursively produced in various historical and cultural contexts. The book begins by putting gay and lesbian sexuality and politics in historical context and demonstrates how and why queer theory emerged in the West in the (...) late twentieth century. Sullivan goes on to provide a detailed overview of the complex ways in which queer theory has been employed, covering a diversity of key topics including: race, sadomasochism, straight sex, fetishism, community, popular culture, transgender, and performativity. Each chapter focuses on a distinct issue or topic, provides a critical analysis of the specific ways in which it has been responded to by critics (including Freud, Foucault, Derrida, Judith Butler, Jean-Luc Nancy, Adrienne Rich and Laura Mulvey), introduces key terms, and uses contemporary cinematic texts as examples. (shrink)

The effects of religion, population sub-division and geography on the prevalence of deaf-mutism were investigated using information collected in the 1921 Census of Punjab. The total sample size was 9·36 million, and comprised data on thirteen Hindu castes, seventeen Muslim biraderis and two Sikh castes. A two-way analysis of variance comparing males in Hindu castes in which consanguineous marriage was prohibited, with males in Muslim biraderis which favoured first cousin marriage, indicated major differences with respect to the patterns of deaf-mutism (...) within each religion. In the Muslim population 9·1% of the relative variation in the prevalence of deaf-mutism was inter-biraderi, 36·8% between geographical regions, and 48·8% an interaction between biraderi and region, whereas among Hindus 46·8% of the observed variation was inter-caste, 12·8% inter-region and 33·6% due to caste–region interaction. From a wider disease perspective the results obtained with the Hindu community indicate the significant genetic differentiation associated with caste endogamy. As the overwhelming majority of Hindu marriages continue to be within-caste, it can be predicted that similar levels of inter-caste differences in disease frequency currently exist. By comparison, the lower level of inter-biraderi variation among Muslims is probably indicative of the dissolution of pre-existing caste boundaries and the resultant gene pool mixing that followed the large-scale conversion of Hindus to Islam during Muslim rule in North India from the 13th to the 19th centuries. (shrink)

: Because an influenza pandemic would create the most serious hardships for those who already face most serious hardships, countries should take special measures to mitigate the effect of a pandemic on existing social inequalities. Unfortunately, there is little evidence that anybody is thinking about that.

This study examines business students’ ethical awareness for two virtues needed to maintain academic integrity, respect, and responsibility. Using the multidimensional ethics survey, five dimensions were measured for six scenarios representing student behaviors using Information Technology . The results indicate that students are ethically aware in respect situations, but are more neutral in responsibility situations. Of the five ethical dimensions, moral equity and relativism appear to be the strongest influences in academic integrity scenarios utilizing IT. This study provides guidance for (...) business professors in their pursuit of ethical excellence in the classroom and for researchers in search of greater understanding of ethical judgments of students. (shrink)

This study aimed to understand the preserved elements of self-identity in persons with moderate to severe dementia attributable to Alzheimer’s disease. A semi-structured interview was developed to explore the narrative self among residents with dementia in a residential care facility and residents without dementia in an independent living setting. The interviews were transcribed verbatim from audio recordings and analyzed for common themes, while being sensitive to possible differences between the groups. The participants with dementia showed evidence of self-reference even though (...) losses in explicit memory were evident. The most noticeable difference between the two groups was time frame reference. Nonetheless, all participants showed understanding of their role in relationships and exhibited concrete preferences. Our findings suggest that memory loss and other cognitive deficits associated with moderate to severe dementia do not necessarily lead to a loss of “self.”. (shrink)

One might be inclined to assume, given the mouse donning its cover, that the behavior of interest in Nicole Nelson's book Model Behavior (2018) is that of organisms like mice that are widely used as “stand-ins” for investigating the causes of human behavior. Instead, Nelson's ethnographic study focuses on the strategies adopted by a community of rodent behavioral researchers to identify and respond to epistemic challenges they face in using mice as models to understand the causes of disordered human behaviors (...) associated with mental illness. Although Nelson never explicitly describes the knowledge production activities in which her behavioral geneticist research subjects engage as “exemplary”, the question of whether or not these activities constitute “model behavior(s)”—generalizable norms for engaging in scientific research—is one of the many thought-provoking questions raised by her book. As a philosopher of science interested in this question, I take it up here. (shrink)

Consciousness, understood as an awareness of what is going on that helps shape one’s experiences, is one of the ways that scholars have distinguished animal life from the rest of the natural world. Beings that have interests in having good experiences and avoiding bad ones deserve our moral attention, and this quality is an important feature of ethical engagement with other sentient beings, both human and nonhuman. What interests matter and why they matter is a subject of disagreement that has (...) affected what we judge to be permissible or impermissible treatment of other animals. Empathy toward and respect for other animals takes us beyond attention to their suffering and has us focus on what counts as well-being for others, by their own lights. (shrink)

Agitation is one of the most common behavioural and psychological symptoms in people living with dementia. This behaviour can cause tremendous stress and anxiety on family caregivers and healthcare providers. Direct observation of PLwD is the traditional way to measure episodes of agitation. However, this method is subjective, bias-prone and timeconsuming. Importantly, it does not predict the onset of the agitation. Therefore, there is a need to develop a continuous monitoring system that can detect and/or predict the onset of agitation. (...) In this study, a multi-modal sensor platform with video cameras, motion and door sensors, wristbands and pressure mats were set up in a hospital-based dementia behavioural care unit to develop a predictive system to identify the onset of agitation. The research team faced several barriers in the development and initiation of the study, namely addressing concerns about the study ethics, logistics and costs of study activities, device design for PLwD and limitations of its use in the hospital. In this paper, the strategies and methodologies that were implemented to address these challenges are discussed for consideration by future researchers who will conduct similar studies in a hospital setting. (shrink)

Machiavelli's ambiguous treatment of religion has fueled a contentios and long-standing debate among scholars. Whereas some insist that Machiavelli is a Christian, others maintain he is a pagan. Sullivan mediates between these divergent views by arguing that he is neither but that he utilizes elements of both understandings arrayed in a wholly new way. She develops her argument by distinguishing among the three Romes that can be understood as existing in Machiavelli's political thought: the first is the Rome of (...) the Christian era, dominated by the pope; the second is the republican Rome of pagan times, which Machiavelli praises; and the third is an idealized Rome that is neither entirely pagan nor entirely Christian. Sullivan draws primarily from the Florentine Histories, The Prince, and the Discourses to offer a unique study of Machiavelli's political thought. Her examination of Machiavelli's three Romes will engage readers concerned with political thought, philosophy of the state, and Machiavelli. (shrink)

I characterize Nishida Kitarō’s metaethical perspective throughout his work but focus especially on his later papers, most notably his writings on kōiteki chokkan, or active intuition. These include Kōiteki Chokkan no Tachiba (published in 1935), Kōiteki Chokkan (published in 1937), as well as Nothingness and the Religious Worldview (Bashoteki Ronri to Shūkyōteki Sekaikan, published in 1945, and widely available in translation). I explore affinities between Nishida’s approach to ethics and metaethical intuitionism and sensibility theory. I then use this analysis to (...) identify a lesson that Nishida offers to contemporary metaethicists. (shrink)

Dōgen has been described as a social reformer based on his more “enlightened” attitude towards women, inviting women students into his sangha and advocating for more egalitarian views of gender (Eido Frances Carney, Receiving the Marrow: Teachings on Dōgen by Soto Zen Women Priests (2012), p. xi). In this chapter, I describe how contemporary Western Zen women and their allies have understood Dōgen’s texts as a tool of personal and social transformation through examination of work by Zen practitioners such as (...) Greenwood’s Bow First (2018), Carney’s Receiving the Marrow (2012), Schireson’s Zen Women (2009), and Glassman and Fields’ Instructions to the Cook (1996). In particular, I posit that Zen women have expressed the practical nature of Dōgen’s philosophy for contemporary non-monastics, showing how to de-center oneself through full participation in the activity of the world. This is in contrast to self-centered preoccupation with individual enlightenment or spiritual attainment. Paradoxically, it is the fact that women have often been confined to social roles that prevent their separation from the minutiae of everyday life that allows them to embody Dōgen’s dictum to “forget the self and be actualized by myriad things.”. (shrink)

Ian Hacking instigated a revolution in 20th century philosophy of science by putting experiments (“interventions”) at the top of a philosophical agenda that historically had focused nearly exclusively on representations (“theories”). In this paper, I focus on a set of conceptual tools Hacking (1992) put forward to understand how laboratory sciences become stable and to explain what such stability meant for the prospects of unity of science and kind discovery in experimental science. I first use Hacking’s tools to understand sources (...) of instability and disunity in rodent behavioral neuroscience. I then use them to understand recent grass-roots collaborative open science initiatives aimed at establishing stability in this research area and tease out some implications for unity of science and kind creation and discovery in cognitive neuroscience. -/- . (shrink)

Personal Versus Political Affairs in Churchill's This is a Chair There are plenty of issues in the world to petition and fight for, yet each individual also has "battles" at home to contend with. Which is of more importance? We often separate the two indefinitely. In studying Caryl Churchill's work This Is a Chair, however, I would suggest the personal and political to be intimately related and possibly each even a causation of the other. To take care of one may (...) be eliminating the problem of the other as well. Might political problems stem from petty, personal qualms? Even more specifically might jeopardizing moral norms affect the greater social order? If so, this would be a revelation and fresh pursuit in solving many of the monumental political issues which are faced today. (shrink)

Capability approach pioneers Amartya Sen and Martha Nussbaum both recognize empowerment as an important aspect of human development. They seem to disagree, however, about how empowerment should be represented within the capability approach (CA). This essay is concerned with the analysis of the foundational concepts at work within Sen and Nussbaum’s CAs. Part One concerns the key concepts of empowerment at work in Sen’s CA and has three goals. 1) Clarify Sen’s various empowerment concepts. 2) Argue that Sen’s concept of (...) Realize Agency Success is flawed. 3) Make clear that empowerment in Sen’s approach can be helpfully understood in terms of agency and capability set expansion. Part Two considers Nussbaum’s CA and the debate over whether it can account for empowerment. I conclude that not only can Nussbaum’s CA account for empowerment, but that the role of empowerment in both Sen’s and Nussbaum’s CAs can be understood in terms of agency and capability set expansion. In other words, Sen and Nussbaum actually agree about empowerment at the foundational level. (shrink)

As the frequency of internet-based research has increased, it is important for researchers to consider how the conditions in which data are collected may influence the risks to participants. In particular, because internet-based data collection often occurs outside a clinical or research setting, there may be unintentional disclosures of a participant's involvement in a research study of which the researcher is unaware. The current analysis examined the responses of men who have sex with men participating in an internet-based HIV behavioural (...) risk study when queried about the possible disclosure of their participation in the study. Fewer than 2% of participants indicated that their participation in the research study was disclosed, and all but one indicated no negative outcomes associated with the disclosure. As the field of online research continues to expand, it is important to consider risks that are unique to internet-based research, and to monitor these risks to ensure that the confidentiality of research subjects is maintained. (shrink)

In the context of the worsening economic crisis analogies tend to be drawn between the economic and political crisis in Europe of the 1920s and 1930s and the current situation. Now as then, it is argued, there is the risk that a systemic economic crisis and the crisis of representative politics will in turn lead to authoritarian outcomes. Rarer, however, is the idea that the current political and economic crisis may lead to a “progressive” outcome. This article examines both options (...) under the light of the thinking of one of the most important interpreters of political crisis and change in the 1920s and 1930s: Antonio Gramsci. One of the central arguments in Gramsci’s Prison Notebooks is the crisis of parliamentarism and democratic politics. Gramsci did not limit his analysis to the crisis however. His theoretical undertaking also consisted in the attempt to imagine the conditions for moving beyond the democratic crisis in a progressive manner. What emerges is an existing continuity between the Gramscian categories of Cesarism-Bonapartism, economic-corporative State, hegemonic crisis and contemporary politics, particularly with reference to phenomena such as populism, technocracy and neo-liberalism; the utility of the conceptual category of Passive Revolution to comprehend the current forms of exerting power and building social consent; the potential fruitfulness of Gramsci’s schemata on counter-hegemonies, to understand the changes in the party-organization and the possibilities of building counter-hegemonies. (shrink)

0. My aims in this paper are largely expository: I am more interested in presenting the picture theory than deciding its truth. Even so, I hope that the arguments by which I develop the theory will do something to support it, since I believe that what I will present as Wittgenstein's view is indeed the truth. This is not an admission of insanity, though some things that have been thought intrinsic to the picture theory are things it would be insane (...) to believe. So clearly the view I will present, when compared to the most embracing interpretations, is a partial and selective one. It would be another kind of madness, one I am just as eagre to disown, to suppose that my own favoured selection is the only possible one. That is pretty well the last remark in this paper about other commentators. I trust my reticence entitles me to be presumed catholic until proven nonconformist. (shrink)

Last year marked the 20th anniversary of the Foreign Corrupt Practices Act (FCPA) of 1977. The FCPA is the first and only statute prohibiting bribery and other corrupt business practices by U.S. citizens and companies conducting business overseas. This paper provides an overview of the FCPA during the two decades of its existence. More specifically, the objectives of this paper are four-fold. First, the paper provides background information about the FCPA of 1977 and subsequent amendments in 1988. Second, the paper (...) discusses the enforcement of the FCPA since its passage by examining the number of cases prosecuted under the FCPA and the respective penalties imposed. Third, the paper discusses the economic impact of the FCPA by addressing whether the FCPA places U.S. firms at a competitive disadvantage. Fourth, the paper provides public policy recommendations to expand the reach and scope of the FCPA. It covers efforts to criminalize bribery through multilateral organizations, such as the Organization for Economic Cooperation and Development (OECD), the World Trade Organization (WTO), and the Organization of American States (OAS). It also covers bilateral arrangements and efforts by non-governmental organizations such as Transparency International. (shrink)

Why are we here? What is the meaning of life? How can we feel happy and free? The answers to these and other life questions are gathered in Tiny Buddha, Simple Wisdom for Life's Hard Questions. Tiny Buddha began as a quote-a-day Twitter account, @tinybuddha, in 2008. Lori Deschene's daily wisdom posts about mindfulness, non-attachment, and happiness became so popular that she now has more than 200,000 twitter followers who share quotes and stories about inspiration in their daily lives.Deschene (...) asked her Twitter followers to contribute their thoughts and perspectives on the difficult questions that influence how we live our everyday lives: thoughts about the meaning of life, pain, happiness, fate, and more.Tiny Buddha, Simple Wisdom for Life's Hard Questions is a combination of the amazing responses that she received along with her own insightful essays, and insights from wise teachers around the world and throughout time. Deschene explores how these issues have played out in her own life and offers action-oriented suggestions to help people empower themselves, even in a world with so much uncertainty. The result is a guide that helps readers discover the endless possibilities for a life lived mindfully in the present, and connected to others. (shrink)

BackgroundMedical aid in dying was introduced in Quebec in 2015. Quebec clinical guidelines recommend that MAiD be approached as a last resort when other care options are insufficient; however, the law sets no such requirement. To date, little is known about when and how requests for MAiD are situated in the broader context of decision-making in end-of-life care; the timing of MAiD raises potential ethical issues.MethodsA retrospective chart review of all MAiD requests between December 2015 and June 2017 at two (...) Quebec hospitals and one long-term care centre was conducted to explore the relationship between routine end-of-life care practices and the timing of MAiD requests.ResultsOf 80 patients requesting MAiD, 54% received the intervention. The median number of days between the request for MAiD and the patient’s death was 6 days. The majority of palliative care consults came less than 7 days prior to the MAiD request and in another 25% of cases occurred the day of or after MAiD was requested. 35% of patients had no level of intervention form, or it was documented as 1 or 2 at the time of the MAiD request and 19% were receiving life-prolonging interventions.InterpretationWe highlight ethical considerations relating to the timing of MAiD requests within the broader context of end-of-life care. Whether or not MAiD is conceptualised as morally distinct from other end-of-life options is likely to influence clinicians’ approach to requests for MAiD as well as the ethical importance of our findings. We suggest that in the wake of the 2015 legislation, requests for MAiD have not always appeared to come after an exploration of other options as professional practice guidelines recommend. (shrink)

In the Italian national elections in 2013, the Movimento Cinque Stelle, founded just four years earlier, gained 25 percent of votes, more than any other party. Analyses and interpretations are divided between those who consider M5S a member of the family of European populism and those who see M5S’s propositions as akin to the values of the left and social movements. The debate on M5S fits into the context of important ongoing trends in European politics: the growth of populist political (...) movements; the emergence of outsider parties able to challenge stable political systems; changing relationships between parties and social movements; changes in the forms of political organizing. This article investigates the political and cultural nature of this party by analyzing its discourse on democracy, its organizational choices and its main issues; comparing these elements with populism and the left; and linking its fundamental characteristics to contemporary economic processes usually termed “digital capitalism.”. (shrink)

Merleau-Ponty's claim in Phenomenology of Perception (1962) that the anonymous body guarantees an intersubjective world is problematic because it omits the particularities of bodies. This omission produces an account of "dialogue" with another in which I solipsistically hear only myself and dominate others with my intentionality. This essay develops an alternative to projective intentionality called "hypothetical construction," in which meaning is socially constructed through an appreciation of the differences of others.

Evolutionary theories of schizophrenia must account for the maintenance of putative alleles in past and present populations despite reduced fitness among the affected. Such models must also account for extant intersex and population-level variability in the expression of schizophrenia. We argue that genetic balanced-polymorphism hypotheses remain the most robust in terms of modeling and testing these processes in populations.

Due to COVID-19’s strain on health systems across the globe, triage protocols determine how to allocate scarce medical resources with the worthy goal of maximising the number of lives saved. However, due to racial biases and long-standing health inequities, the common method of ranking patients based on impersonal numeric representations of their morbidity is associated with disproportionately pronounced racial disparities. In response, policymakers have issued statements of solidarity. However, translating support into responsive COVID-19 policy is rife with complexity. Triage does (...) not easily lend itself to race-based exceptions. Reordering triage queues based on an individual patient’s racial affiliation has been considered but may be divisive and difficult to implement. And while COVID-19 hospital policies may be presented as rigidly focused on saving the most lives, many make exceptions for those deemed worthy by policymakers such as front-line healthcare workers, older physicians, pregnant women and patients with disabilities. These exceptions demonstrate creativity and ingenuity—hallmarks of policymakers’ abilities to flexibly respond to urgent societal concerns—which should also be extended to patients of colour. This paper dismantles common arguments against the confrontation of racial inequity within COVID-19 triage protocols, highlights concerns related to existing proposals and proposes a new paradigm to increase equity when allocating scarce COVID-19 resources. (shrink)

Working in and around the ‘chain of command’: power relations among nursing staff in an urban nursing homeBy most accounts, the discipline of nursing enjoys considerable hegemony in US nursing homes. Not surprisingly, the ethos of this setting is influenced, in large part, by nursing’s value system. This ethos powerfully impacts both the residents who live in nursing homes and the staff who work there. Using ethnographic methods, this project explored power relations among nursing assistants and nurses in an urban (...) nursing home in the United States. Factors contributing to tensions among nursing staff were the stigma attached to nursing homes and those who work in them, as well as the long history of class conflict and power struggles within the discipline of nursing. The latter struggles, in turn, reflected nursing’s quest for professional status in the face of medicine’s hegemony over health‐care. Ultimately, these factors coalesced to produce a local work environment characterized by conflict — and by aides’ resistance to nurses’ domination. (shrink)