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)

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.

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)

: 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 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)

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)

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)

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)

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)

In lieu of an abstract, here is a brief excerpt of the content:Aesthetic Experience and Education:Themes and QuestionsDeborah Kerdeman"Being with" music. Attentive responsiveness in teaching. Scholarly learning as engagement with beauty. Three evocative images of aesthetic experience come to light in the essays by Custodero, Hansen, and Neumann. From the musical play of children conducting imaginary orchestras to the vocational aspirations of adults who gaze through telescopes or study paintings at Chicago's Art Institute, aesthetic experience spans a range of activities (...) and ages. No matter the setting or moment, aesthetic experience vitalizes our lives with meaning and joy. Why this is so and what difference this makes for education emerge as overarching concerns in this set of papers. Addressing these issues, the authors articulate a number of commonthemes and reach similar conclusions about the nature and value of aesthetic experience.I want to identify and analyze key ideas that run throughout these essays. Doing so deepens our appreciation of the authors' insights and underscores the importance of the project they undertake. I also want to examine three questions that the essays suggest but do not develop. Exploring these questions, I hope to further enrich our understanding of aesthetic experience and its place in education.First and foremost, aesthetic experience for all three authors integrates multiple ways of knowing and enables individuals to perceive connections that they might otherwise overlook. According to Custodero, aesthetic experience harmonizes imagination, physicality, and "thinking-in-action." [End Page 88] Thinking-in-action, Custodero says, while "critical and consequential," is nonverbal and nonjudgmental — unifying rather than analytic. Synthesizing bodily movement, imagination, and thought, aesthetic experience reveals "surprise relationships between seemingly disparate phenomena." The theme of integration is echoed in Neumann's description of scholarly learning as aesthetic experience. Scholarly learning does not shun feeling or lived experience, Neumann writes. This way of knowing instead is "deeply emotional and personal." Insight fuses with emotion, enabling scholars to "feel the whole picture," as David the astronomer puts it in his interview with Neumann. For Hansen, aesthetic experience connotes heightened perception, a way of being that attends to nuances of gesture that would otherwise remain invisible. "The aesthetic highlights aspects of wonder and of beauty that emerge, spontaneously and unrehearsed," Hansen explains. A form of creativity, aesthetic perception combines with moral and intellectual understanding to fully embrace "the living dynamic gestalt" of teaching and learning.Aesthetic experience thus integrates mind, body, and emotion. Hansen links aesthetic experience to moral judgment as well. Integrating various ways of knowing, aesthetic experience enables individuals to perceive and understand relationships that pulse throughout the social and natural world. Such understanding is pleasurable, the authors agree.Aesthetic experience not only is integrative. It also is interactive. Custodero's musicians interact with instruments, musical scores, and other individuals. Neumann's scholars interact with ideas and scholarly materials. Hansen's preservice teachers interact with works of art, subject matter, students, and one another. Interacting with people and things, individuals become absorbed in what they are doing. "Being with" music is howCustodero puts it. Carmen, the professor of music in Neumann's essay, says that playing music well "is like a complete focus of oneness."Being absorbed in aesthetic interaction does not discount or dissolve the ability to make decisions or direct action. Aesthetic experience rather presumes and promotes "aesthetic agency," to borrow a phrase from Custodero. "To 'be in the moment,'" Custodero writes, "is to encounter the aesthetic — fully engaged in an activity for which one's individual contributions are perceived as vital." Hansen's description of aesthetic perception combines attentiveness and responsiveness in a "dynamic combination of patience, listening, and initiative." Neumann states that scholarly learning is an experience of "deep engrossment." Such engrossment does not extinguish the self, however. In the words of David the astronomer, feeling "the whole picture... is a combination of both what you see, sort of an instinctive or primal thing, and also your knowledge of what, you know, you put together." [End Page 89]The interactive nature of aesthetic experience thus signifies a kind of "agency-in-situ." Aesthetic experience is shaped or directed by the contribution and initiative of individuals. But individuals cannot act in advance of experience or know what to do, unless they are... (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 _Politics with Beauvoir_ Lori Jo Marso treats Simone de Beauvoir's feminist theory and practice as part of her political theory, arguing that freedom is Beauvoir's central concern and that this is best apprehended through Marso's notion of the encounter. Starting with Beauvoir's political encounters with several of her key contemporaries including Hannah Arendt, Robert Brasillach, Richard Wright, Frantz Fanon, and Violette Leduc, Marso also moves beyond historical context to stage encounters between Beauvoir and others such as Chantal Akerman, (...) Lars von Trier, Rahel Varnhagen, Alison Bechdel, the Marquis de Sade, and Margarethe von Trotta. From intimate to historical, always affective though often fraught and divisive, Beauvoir's encounters, Marso shows, exemplify freedom as a shared, relational, collective practice. _Politics with Beauvoir_ gives us a new Beauvoir and a new way of thinking about politics—as embodied and coalitional. (shrink)

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.

Bioethics has made remarkable progress as a scholarly and applied field. A mere fledgling in the 1960s, it is now firmly established in hospitals, medical schools, and government agencies and boasts a number of professional associations and a handsome collection of journals.