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)

First published in 1982. Routledge is an imprint of Taylor & Francis, an informa company.

In order to summarize a story, it is necessary to access a high level analysis of the story that highlights its central concepts. A technique of memory representation based on plot units appears to provide a rich foundation for such an analysis. Plot units are conceptual structures that overlap with each other when a narrative is cohesive. When overlapping intersections between plot units are interpreted as arcs in a graph of plot units, the resulting graph encodes the plot of the (...) story. Structural features of the graph then reveal which concepts are central to the story, and which concepts are peripheral. Plot unit analysis is currently being investigated as a processing strategy for narrative summarization by both computer simulation and psychological experiments. (shrink)

RationaleSurrogates of critically ill patients often have inaccurate expectations about prognosis. Yet there is little research on how intensive care unit clinicians should discuss prognosis, and existing expert opinion-based recommendations give only general guidance that has not been validated with surrogate decision makers.ObjectiveTo determine the perspectives of key stakeholders regarding how prognostic information should be conveyed in critical illness.MethodsThis was a multicenter study at three academic medical centers in California, Pennsylvania, and Washington. One hundred eighteen key stakeholders completed in-depth semistructured (...) interviews. Participants included 47 surrogates of adult patients with acute respiratory distress syndrome; 45 clinicians working in study ICUs, including physicians, nurses, social workers, and spiritual care providers; and 26 experts in health communication, decision science, ethics, family-centered care, geriatrics, healthcare disparities, palliative care, psychology, psychiatry, and critical care.Measurements and main resultsThere was broad support among surrogates for existing expert recommendations, including truthful prognostic disclosure, emotional support, tailoring the disclosure strategy to each family's needs, and checking for understanding. In addition, stakeholders offered suggestions that add specificity to existing recommendations, including: In addition to conveying prognostic estimates, clinicians should help families "see the prognosis for themselves" by showing families radiographic images and explaining the clinical significance of physical manifestations of severe disease at the bedside. Many physicians did not support using numeric estimates to convey prognosis to families, whereas many surrogates, clinicians from other disciplines, and experts believed numbers could be helpful. Clinicians should conceptualize prognostic communication as an iterative process that begins with a preliminary mention of the possibility of death early in the ICU stay and becomes more detailed as the clinical situation develops. Although prognostic information should be initially disclosed by physicians, other members of the multidisciplinary team-nurses, social workers, and spiritual care providers-should be given explicit role responsibilities to reinforce physicians' prognostications and help families process a poor prognosis emotionally.ConclusionsFamily members, clinicians, and experts identified specific communication behaviors that clinicians should use to discuss prognosis in the critical care setting. These findings extend existing opinion-based recommendations and should guide interventions to improve communication about prognosis in ICUs. (shrink)

This book offers 32 texts and case studies from across a wide range of business sectors around a managerial framework for Sustainable Business. The case studies are developed for and tested in executive education programmes at leading business schools. The book is based on the premise that the key for managing the sustainable business is finding the right balance over time between managing competitiveness and profitability AND managing the context of the business with its political, social and ecological risks and (...) opportunities. In that way, a sustainable business is highly responsive to the demands and challenges from both markets and societies and managers embrace the complexity, ambivalence and uncertainty that goes along with this approach. The book presents a framework that facilitates the adoption of best business practice. This framework leads executives through a systematic approach of strategic analysis and business planning in risk management, issues management, stakeholder management, sustainable business development and strategic differentiation, business model innovation and developing dynamic capabilities. The approach helps broaden the understanding of what sustainable performance means, by protecting business value against sustainability risks and creating business value from sustainability opportunities. (shrink)

A repository of clinically associated Staphylococcus aureus (Sa) isolates is used to semi‐automatically generate a set of application ontologies for specific subfamilies of Sa‐related disease. Each such application ontology is compatible with the Infectious Disease Ontology (IDO) and uses resources from the Open Biomedical Ontology (OBO) Foundry. The set of application ontologies forms a lattice structure beneath the IDO‐Core and IDO‐extension reference ontologies. We show how this lattice can be used to define a strategy for the construction of a new (...) taxonomy of infectious disease incorporating genetic, molecular, and clinical data. We also outline how faceted browsing and query of annotated data is supported using a lattice application ontology. (shrink)

Introduction, W G Runciman Social Evolution in Primates: The Role of Ecological Factors and Male Behaviour, Carel P van Schaik Determinants of Group Size in Primates: A General Model, R I M Dunbar Function and Intention in the Calls of Non-Human Primates, Dorothy L Cheney & Robert M Seyfarth Why Culture is Common, but Cultural Evolution is Rare, Robert Boyd & Peter J Richerson An Evolutionary and Chronological Framework for Human Social Behaviour, Robert A Foley Friendship and the Banker?s Paradox: (...) Other Pathways to the Evolution of Adaptations for Altruism, John Tooby & Leda Cosmides The Early Prehistory of Human Social Behaviour: Issues of Archaeological Inference and Cognitive Evolution, Steven Mithen The Emergence of Biologically Modern Populations in Europe: A Social and Cognitive ?Revolution??, Paul Mellars Responses to Environmental Novelty: Changes in Men?s Marriage Strategies in a Rural Kenyan Community, Monique Borgerhoff Mulder Genetic Language Impairment: Unruly Grammars, M Gopnik, J Dalalakis, S E Fukuda, S Fukuda & E Kehayia The Emergence of Cultures among Wild Chimpanzees, Christophe Boesch Terrestriality, Bipedalism and the Origin of Language, Leslie C Aiello Conclusions, John Maynard Smith. (shrink)

The issue of the theory-ladenness of observation has long troubled philosophers of science, largely because it seems to threaten the objectivity of science. However, the way in which prior beliefs influence the perception of data is in part an empirical issue that can be investigated by cognitive psychology. This point is illustrated through an experimental analogue of scientific data-interpretation tasks in which subjects judging the covariation between personality variables based their judgments on pure data, their theoretical intuitions about the variables, (...) or both data and prior theoretical beliefs. Results showed that the perceived magnitude of correlations was greatest when subjects relied solely on theoretical intuitions; that data-based judgments were drawn in the direction of those prior beliefs; but that exposure to data nonetheless moderated the strength of the prior theories. In addition, prior beliefs were found to influence judgments only after a brief priming interval, suggesting that subjects needed time to retrieve their theoretical intuitions from memory. These results suggest ways to investigate the processes mediating theory-laden observation, and, contrary to the fears of positivist philosophers, imply that the theory-ladenness of observation does not entail that theoretical beliefs are immune to data. (shrink)

The embodied simulation of smiles involves motor activity that often changes the perceivers' own emotional experience (e.g., smiling can make us feel happy). Although Niedenthal et al. mention this possibility, the psychological processes by which embodiment changes emotions and their consequences for processing other emotions are not discussed in the target article's review. We argue that understanding the processes initiated by embodiment is important for a complete understanding of the effects of embodiment on emotion perception.

How can we take history seriously as real and relevant? Despite the hazards of politically dangerous or misleading accounts of the past, we live our lives in a great network of cooperation with other actors; past, present, and future. We study and reflect on the past as a way of exercising a responsibility for shared action. In each of the chapters of Full History Smith poses a key question about history as a concern for conscious participants in the sharing (...) of action, starting with “What Is Historical Meaningfulness?” and ending with “How Can History Have an Aim?” Constructing new models of historical meaning while engaging critically with perspectives offered by Ranke, Dilthey, Rickert, Heidegger, Eliade, Sartre, Foucault, and Arendt, Smith develops a philosophical account of thinking about history that moves beyond postmodernist skepticism. Full History seeks to expand the cast of significant actors, establishing an inclusive version of the historical that recognizes large-scale cumulative actions but also encourages critical revision and expansion of any paradigm of shared action. (shrink)

Explores the basic forms of responsibility that we willingly assume and the collaborative fulfillment that we find in each.

ObjectiveCo-morbid insomnia and sleep apnea is a common and debilitating condition that is more difficult to treat compared to insomnia or sleep apnea-alone. Emerging evidence suggests that cognitive behavioral therapy for insomnia is effective in patients with COMISA, however, those with more severe sleep apnea and evidence of greater objective sleep disturbance may be less responsive to CBTi. Polysomnographic sleep study data has been used to predict treatment response to CBTi in patients with insomnia-alone, but not in patients with COMISA. (...) We used randomized controlled trial data to investigate polysomnographic predictors of insomnia improvement following CBTi, versus control in participants with COMISA.MethodsOne hundred and forty five participants with insomnia and sleep apnea [apnea-hypopnea index ≥ 15] were randomized to CBTi or no-treatment control. Mixed models were used to investigate the effect of pre-treatment AHI, sleep duration, and other traditional, and novel [quantitative electroencephalography ] polysomnographic predictors of between-group changes in Insomnia Severity Index scores from pre-treatment to post-treatment.ResultsCompared to control, CBTi was associated with greater ISI improvement among participants with; higher AHI, less wake after sleep onset, and less N3 sleep. No quantitative electroencephalographic, or other traditional polysomnographic variables predicted between-group ISI change.DiscussionAmong participants with COMISA, higher OSA severity predicted a greater treatment-response to CBTi, versus control. People with COMISA should be treated with CBTi, which is effective even in the presence of severe OSA and objective sleep disturbance. (shrink)

How can we take history seriously as real and relevant? Despite the hazards of politically dangerous or misleading accounts of the past, we live our lives in a great network of cooperation with other actors; past, present, and future. We study and reflect on the past as a way of exercising a responsibility for shared action. In each of the chapters of Full History Smith poses a key question about history as a concern for conscious participants in the sharing (...) of action, starting with “What Is Historical Meaningfulness?” and ending with “How Can History Have an Aim?” Constructing new models of historical meaning while engaging critically with perspectives offered by Ranke, Dilthey, Rickert, Heidegger, Eliade, Sartre, Foucault, and Arendt, Smith develops a philosophical account of thinking about history that moves beyond postmodernist skepticism. Full History seeks to expand the cast of significant actors, establishing an inclusive version of the historical that recognizes large-scale cumulative actions but also encourages critical revision and expansion of any paradigm of shared action. (shrink)

While valuable work has been done addressing clinical ethics within established healthcare systems, we anticipate that the projected growth in acquisitions of community hospitals and facilities by large tertiary hospitals will impact the field of clinical ethics and the day-to-day responsibilities of clinical ethicists in ways that have yet to be explored. Toward the goal of providing clinical ethicists guidance on a range of issues that they may encounter in the systematization process, we discuss key considerations and potential challenges in (...) implementing system-wide ethics consultation services. Specifically, we identify four models for organizing, developing, and enhancing ethics consultation activities within a system created through acquisitions: train-the-trainer, local capacity-building, circuit-riding, and consolidated accountability. We note each model’s benefits and challenges. To our knowledge, this is the first paper to consider the broader landscape of issues affected by consolidation. We anticipate that clinical ethicists, volunteer consultants, and hospital administrators will benefit from our recommendations. (shrink)

Moral distress (MD) is well-documented within the nursing literature and occurs when constraints prevent a correct course of action from being implemented. The measured frequency of MD has increased among nurses over recent years, especially since the COVID-19 Pandemic. MD is less understood among nurse leaders than other populations of nurses. A qualitative systematic review was conducted with the aim to synthesize the experiences of MD among nurse leaders. This review involved a search of three databases (Medline, CINAHL, and APA (...) PsychINFO) which resulted in the retrieval of 303 articles. PRISMA review criteria guided authors during the article review and selection process. Following the review, six articles were identified meeting review criteria and quality was assessed using the Critical Appraisal Skills Programme (CASP) Checklist for qualitative studies. No ethical review was required for this systematic review. The six studies included in this review originated from the United States, Brazil, Turkey, and Iran. Leadership roles ranged from unit-based leadership to executive leadership. Assigned quality scores based upon CASP criteria ranged from 6 to 9 (moderate to high quality). Three analytical themes emerged from the synthesis: (1) moral distress is consuming; (2) constrained by the system; and (3) adapt to overcome. The unique contributors of MD among nurse leaders include the leadership role itself and challenges navigating moral situations as they arise. The nurse leader perspective should be considered in the development of future MD interventions. (shrink)

ABSTRACT:In a world filled with poverty, environmental degradation, and moral injustice, social enterprises offer a ray of hope. These organizations seek to achieve social missions through business ventures. Yet social missions and business ventures are associated with divergent goals, values, norms, and identities. Attending to them simultaneously creates tensions, competing demands, and ethical dilemmas. Effectively understanding social enterprises therefore depends on insight into the nature and management of these tensions. While existing research recognizes tensions between social missions and business ventures, (...) we lack any systematic analysis. Our paper addresses this issue. We first categorize the types of tensions that arise between social missions and business ventures, emphasizing their prevalence and variety. We then explore how four different organizational theories offer insight into these tensions, and we develop an agenda for future research. We end by arguing that a focus on social-business tensions not only expands insight into social enterprises, but also provides an opportunity for research on social enterprises to inform traditional organizational theories. Taken together, our analysis of tensions in social enterprises integrates and seeks to energize research on this expanding phenomenon. (shrink)

ABSTRACT:In a world filled with poverty, environmental degradation, and moral injustice, social enterprises offer a ray of hope. These organizations seek to achieve social missions through business ventures. Yet social missions and business ventures are associated with divergent goals, values, norms, and identities. Attending to them simultaneously creates tensions, competing demands, and ethical dilemmas. Effectively understanding social enterprises therefore depends on insight into the nature and management of these tensions. While existing research recognizes tensions between social missions and business ventures, (...) we lack any systematic analysis. Our paper addresses this issue. We first categorize the types of tensions that arise between social missions and business ventures, emphasizing their prevalence and variety. We then explore how four different organizational theories offer insight into these tensions, and we develop an agenda for future research. We end by arguing that a focus on social-business tensions not only expands insight into social enterprises, but also provides an opportunity for research on social enterprises to inform traditional organizational theories. Taken together, our analysis of tensions in social enterprises integrates and seeks to energize research on this expanding phenomenon. (shrink)

Ethics and Education, Volume 6, Issue 3, Page 213-215, October 2011.