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)

Interactivity has been linked to better performance in problem solving, due in part to a more efficient allocation of attentional resources, a better distribution of cognitive load, but perhaps more important by enabling the reasoner to shape and reshape the physical problem presentation to promote the development of the problem solution. Interactivity in solving quotidian arithmetic problems involves gestures, pointing, and the recruitment of artefacts to facilitate computation and augment efficiency. In the experiment reported here, different types of interactivity were (...) examined with a series of mental arithmetic problems. Using a repeated-measures design, participants solved series of five 11-digit sums in four conditions that varied in the type of interactivity: no interactivity, pointing, pen and paper, and tokens. Performance in the four conditions was measured in terms of accuracy, calculation error, and efficiency. These quantitative analyses were supplemented by a detailed qualitative examination of a participant’s actions in the different conditions. The integration of artefacts, such as tokens or a pen, offered reasoners the opportunity to reconfigure the physical presentation of the problem, enacting different arithmetic strategies: the affordance landscape shifts as the problem trajectory is enacted through interactivity, and this generally produced better “mental” arithmetic performance. Participants also felt more positive about and better engaged with the task when they could reconfigure the problem presentation through interactivity. These findings underscore the importance of engineering task environments in the laboratory that offer a window on how problem solving unfolds through a coalition of mental and physical resources. (shrink)

In this paper we construct an extension, ℒ, of Anderson and Belnap's relevance logic R that is classical in the sense that it contains p&p → q as a theorem, and we prove that ℒ is pretabular in the sense that while it does not have a finite characteristic matrix, every proper normal extension of it does. We end the paper by commenting on the possibility of finding other classical relevance logics that are also pretabular.

Synthetic genomics is a new field of research in which small DNA pieces are assembled in a series of steps into whole genomes. The highly reduced genomes of host‐associated bacteria are now being used as models for de novo synthesis of small genomes in the laboratory. Bacteria with the smallest genomes identified in nature provide nutrients to their hosts, such as amino acids, co‐factors and vitamins. Comparative genomics of these bacteria enables predictions to be made about the gene sets required (...) for core cellular functions and the associated metabolic network for the biosynthesis of host‐selected compounds. Synthetic biology may ultimately enable researchers to make customized cell‐specific organelles for the production and delivery of drugs to humans and domestic animals. Synthetic genomics may also become the method of choice for functional analyses of genes and genomes from bacteria that cannot be cultivated in the laboratory. (shrink)

Different types of consent are used to obtain human biospecimens for future research. This variation has resulted in confusion regarding what research is permitted, inadvertent constraints on future research, and research proceeding without consent. The National Institutes of Health Clinical Center's Department of Bioethics held a workshop to consider the ethical acceptability of addressing these concerns by using broad consent for future research on stored biospecimens. Multiple bioethics scholars, who have written on these issues, discussed the reasons for consent, the (...) range of consent strategies, and gaps in our understanding, and concluded with a proposal for broad initial consent coupled with oversight and, when feasible, ongoing provision of information to donors. This article describes areas of agreement and areas that need more research and dialogue. Given recent proposed changes to the Common Rule, and new guidance regarding storing and sharing data and samples, this is an important and tim.. (shrink)

This is a book review. Summary: I'm not a fan.

We use probability-matching variations on Ellsberg’s single-urn experiment to assess three questions: (1) How sensitive are ambiguity attitudes to changes from a gain to a loss frame? (2) How sensitive are ambiguity attitudes to making ambiguity easier to recognize? (3) What is the relation between subjects’ consistency of choice and the ambiguity attitudes their choices display? Contrary to most other studies, we find that a switch from a gain to a loss frame does not lead to a switch from ambiguity (...) aversion to ambiguity neutrality and/or ambiguity seeking. We also find that making ambiguity easier to recognize has little effect. Finally, we find that while ambiguity aversion does not depend on consistency, other attitudes do: consistent choosers are much more likely to be ambiguity neutral, while ambiguity seeking is much more frequent among highly inconsistent choosers. (shrink)

COVID-19 has been called “a disaster for feminism” for numerous reasons. In this short piece, we make sense of this claim, drawing on intersectional feminism to understand why an analysis that considers gender alone is inadequate to address both the risks and consequences of COVID-19.

This study empirically analyses the exclusion of companies from investors’ investment universe due to a company’s business model or due to a company’s violations of international norms. We conduct a time-series analysis of the performance implications of the exclusion decisions of two leading Nordic investors, Norway’s Government Pension Fund-Global and Sweden’s AP-funds. We find that their portfolios of excluded companies do not generate an abnormal return relative to the funds’ benchmark index. While the exclusion portfolios show higher risk than the (...) respective benchmark, this difference is only statistically significant for the case of GPFG. These findings suggest that the exclusion of the companies generally does not harm funds’ performance. We interpret these findings as indicative that with exclusionary screening, as practiced by the sample funds, asset owners can meet the ethical objectives of their beneficiaries without compromising financial returns. (shrink)

This study explores the underlying drivers of US public pension funds’ tendency to tilt their portfolios towards companies with stronger corporate social responsibility. Studying the equity holdings of large, internally managed US state pension funds, we find evidence that the political leaning of their beneficiaries and political pressures by state politicians affect funds’ investment decisions. State pension funds from states with Democratic-leaning beneficiaries tilt their portfolios more strongly towards companies that perform well on CSR issues, and this tendency is intensified (...) when the state government is dominated by Democratic state politicians. Moreover, we find that funds which tilt their portfolios towards companies with superior CSR scores generate a slightly higher return compared with their counterparts. Overall, our findings indicate that funds align their investment choices with the financial and non-financial interests of their beneficiaries when deciding whether to incorporate CSR into their equity allocations. (shrink)

The use of remember–know judgments to assess subjective experience associated with memory retrieval, or as measures of recollection and familiarity processes, has been controversial. In the current study we had participants think aloud during study and provide verbal reports at test for remember–know and confidence judgments. Results indicated that the vast majority of remember judgments for studied items were associated with recollection from study , but this correspondence was less likely for high-confidence judgments . Instead, high-confidence judgments were more likely (...) than remember judgments to be associated with incorrect recollection and a lack of recollection. Know judgments were typically associated with a lack of recollection , but still included recollection from the study context . Thus, although remember judgments provided fairly accurate assessments of retrieval including contextual details, know judgments did not provide accurate assessments of retrieval lacking contextual details. (shrink)

Ethical maturity is a great concern to all educators, firms, and investors across the globe. This research surveyed 448 citizens, managers and employees in Iran to measure their Personal Business Ethics Scores (PBES) to see if age, education, management experience, and government work experience make a difference in making more ethical decisions. This study contributes to the theory of moral development across the Iranian culture as it is the first known study using this method. The results suggest that education and (...) more years of government work experience make a difference in the moral maturity of respondents. This study confirms that the ethical maturity of respondents is enhanced either through the authoritarian regime or socialization with Islamic values. Kohlberg’s moral development theory regarding ethical maturity is partially supported since those with more years of experience in government and more formal education have higher business ethics scores. Implications are discussed. (shrink)

BackgroundMulti-centre studies generally cost more than single-centre studies because of larger sample sizes and the need for multiple ethical approvals. Multi-centre studies include clinical trials, clinical quality registries, observational studies and implementation studies. We examined the costs of two large Australian multi-centre studies in obtaining ethical and site-specific approvals.MethodsWe collected data on staff time spent on approvals and expressed the overall cost as a percent of the total budget.ResultsThe total costs of gaining approval were 38 % of the budget for (...) a study of 50 centres (mean cost AUD $6960 per site) and 2 % for a study of 11 centres (mean cost AUD $2300 per site). Seventy-five and 90 % of time was spent on repeated tasks, respectively, and many time-consuming tasks, such as reformatting documents, did nothing to improve the study design or participant safety.ConclusionsImprovements have been made to the ethical approval application system, but more gains could be made without increasing risks of harm to research participants. We propose that ethical review bodies and individual sites publish statistics on how long they take to process approvals which could then be nationally benchmarked. (shrink)

It was an afternoon in the early stages of the pandemic when Lisa Richardson and I ran into each other at the hospital coffee line. Standing six feet apart and decked out in masks, scrub caps, and face shields, we were almost unrecognizable to one another and to ourselves. The pandemic was of course top of mind, but our conversation quickly turned to what was being articulated about the pandemic and why it was being heralded as a "disaster for (...) feminism". As Audre Lorde reminds us, "There is no such thing as a single-issue struggle because we do not live single issue lives," and we were beginning to see how many issues intersected in the pandemic moment. The United Nations was calling... (shrink)

In 1959, Neal Miller made the bold claim that the Stimulus–Response, Behaviorist models of that era were describing the way in which stimuli lead to the entry of contents into consciousness. Today, researchers have begun to investigate the link between external stimuli and involuntary entry, using paradigms such as the reflexive imagery task, the focus of our review. The RIT has revealed that stimuli can elicit insuppressible entry of high-level cognitions. Knowledge of the boundary conditions of the RIT effect illuminates (...) the limitations of involuntary processes and the role of consciousness in the regulation of behavior. We review the boundary conditions of this paradigm as well as its systematic effects. Systematic effects are unlikely to be due to experimental demand. While reviewing each effect, we consider its theoretical implications. In addition, throughout our review, we discuss future directions for the study of insuppressible entry using the RIT. Last, we discuss a theoretical development that stems from the RIT and illuminates how involuntary entry and encapsulation, though at times disadvantageous for the actor, are essential for adaptive action selection during the course of ontogeny. (shrink)

The neologism ‘extremism’ indicates a nexus of ideas intrinsic to the way in which contemporary culture imagines the figure of the violent woman. First, it identifies the sexism visible in react...

In this article, we propose the Fair Priority Model for COVID-19 vaccine distribution, and emphasize three fundamental values we believe should be considered when distributing a COVID-19 vaccine among countries: Benefiting people and limiting harm, prioritizing the disadvantaged, and equal moral concern for all individuals. The Priority Model addresses these values by focusing on mitigating three types of harms caused by COVID-19: death and permanent organ damage, indirect health consequences, such as health care system strain and stress, as well as (...) economic destruction. It proposes proceeding in three phases: the first addresses premature death, the second long-term health issues and economic harms, and the third aims to contain viral transmission fully and restore pre-pandemic activity. -/- To those who may deem an ethical framework irrelevant because of the belief that many countries will pursue "vaccine nationalism," we argue such a framework still has broad relevance. Reasonable national partiality would permit countries to focus on vaccine distribution within their borders up until the rate of transmission is below 1, at which point there would not be sufficient vaccine-preventable harm to justify retaining a vaccine. When a government reaches the limit of national partiality, it should release vaccines for other countries. -/- We also argue against two other recent proposals. Distributing a vaccine proportional to a country's population mistakenly assumes that equality requires treating differently situated countries identically. Prioritizing countries according to the number of front-line health care workers, the proportion of the population over 65, and the number of people with comorbidities within each country may exacerbate disadvantage and end up giving the vaccine in large part to wealthy nations. (shrink)

No consensus yet exists on how to handle incidental fnd-ings in human subjects research. Yet empirical studies document IFs in a wide range of research studies, where IFs are fndings beyond the aims of the study that are of potential health or reproductive importance to the individual research participant. This paper reports recommendations of a two-year project group funded by NIH to study how to manage IFs in genetic and genomic research, as well as imaging research. We conclude that researchers (...) have an obligation to address the possibility of discovering IFs in their protocol and communications with the IRB, and in their consent forms and communications with research participants. Researchers should establish a pathway for handling IFs and communicate that to the IRB and research participants. We recommend a pathway and categorize IFs into those that must be disclosed to research participants, those that may be disclosed, and those that should not be disclosed. (shrink)

Lisa A. Eckenwiler and Felicia G. Cohn, The ethics of bioethics: Mapping the moral landscape, Baltimore: The Johns Hopkins University Press, 2009, reviewed by Carolyn Ells.