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)

P D Walsh; Value Education in a Pluralist Society, Journal of Philosophy of Education, Volume 10, Issue 1, 30 May 2006, Pages 24–33, https://doi.org/10.1111/j.1.

Een wijsgerig-methodologische studie welke zich alleen bezighoudt met het van de ervaring afhankelijke karakter van het empirisch onderzoek.

Building on a well-developed philosophy of language, Shibles proposes a theory of metaphor. Whereas one philosophy of language may regard metaphor as an inadequate or fallacious form of reasoning, another may consider it to be the very foundation of language. Shibles’ views lie in the latter direction, and he employs Wilbur Urban’s philosophy of language, presented in his Language and Reality, to develop his theory. Urban’s importance lies in his avoidance of reducing the philosophy of language to symbolic logic and (...) recognition of the importance of metaphor, symbol, and analogy. Also significant for a theory of metaphor is the fact that Urban saw a "high evaluation" of language as being more adequate than a "low evaluation" of language. (shrink)

In his last major work, the posthumously published Crisis of European Sciences, Husserl presented what he described as a new path into transcendental phenomenology: the path through the "life-world" on which objective science is founded. To make objective science intelligible, Husserl held, we must inquire back into the world of everyday involvement and experience from which it emerges; this inquiry leads in turn to a thematization of the subjective structures through which the always "pre-given" life-world is itself constituted. Husserl’s demand (...) for a return to the life-world has been the subject of much discussion in the twenty-five years since the publication of the Crisis. Yet debate over the precise sense and ultimate significance of the demand continues. In this most recent contribution, E. Ströker has gathered ten essays originally presented at a 1978 conference of prominent German and American scholars. At least some of the essays should prove helpful to Husserl specialists and others interested in Husserl’s concept of the life-world. (shrink)

Background: The factors influencing parents’ willingness to enroll their children in biobanks are poorly understood. This study sought to assess parents’ willingness to enroll their children, and their perceived benefits, concerns, and information needs under different consent and data-sharing scenarios, and to identify factors associated with willingness. Methods: This large, experimental survey of patients at the 11 eMERGE Network sites used a disproportionate stratified sampling scheme to enrich the sample with historically underrepresented groups. Participants were randomized to receive one of (...) three consent and data-sharing scenarios. Results: In total, 90,000 surveys were mailed and 13,000 individuals responded (15.8% response rate). 5737 respondents were parents of minor children. Overall, 55% (95% confidence interval 50–59%) of parents were willing to enroll their youngest minor child in a hypothetical biobank; willingness did not differ between consent and data-sharing scenarios. Lower educational attainment, higher religiosity, lower trust, worries about privacy, and attitudes about benefits, concerns, and information needs were independently associated with less willingness to allow their child to participate. Of parents who were willing to participate themselves, 25% were not willing to allow their child to participate. Being willing to participate but not willing to allow one’s child to participate was independently associated with multiple factors, including race, lower educational attainment, lower annual household income, public health care insurance, and higher religiosity. Conclusions: Fifty-five percent of parents were willing to allow their youngest minor child to participate in a hypothetical biobank. Building trust, protecting privacy, and addressing attitudes may increase enrollment and diversity in pediatric biobanks. (shrink)

Activists’ investigations of animal cruelty expose the public to suffering that they may otherwise be unaware of, via an increasingly broad-ranging media. This may result in ethical dilemmas and a wide range of emotions and reactions. Our hypothesis was that media broadcasts of cruelty to cattle in Indonesian abattoirs would result in an emotional response by the public that would drive their actions towards live animal export. A survey of the public in Australia was undertaken to investigate their reactions and (...) responses to. The most common immediate reaction was feeling pity for the cattle. Women were more likely than men to feel sad or angry. Most people discussed the media coverage with others afterwards but fewer than 10 % contacted politicians or wrote to newspapers. We conclude that the public were emotionally affected by the media coverage of cruelty to cattle but that this did not translate into significant behavioral change. We recommend that future broadcasts of animal cruelty should advise the public of contact details for counseling and that mental health support contacts, and information should be included on the websites of animal advocacy groups to acknowledge the disturbing effect animal cruelty exposes can have on the public. (shrink)

In order to model any macroscopic system, it is necessary to aggregate both spatially and taxonomically. If average processes are assumed, then kinetic equations of “population dynamics” can be derived. Much effort has gone into showing the important effects introduced by non-average effects (fluctuations) in generating symmetry-breaking transitions and creating structure and form. However, the effects of microscopic diversity have been largely neglected. We show that evolution will select for populations which retain “variability,” even though this is, at any given (...) time, loss-making, predicting that we shall not observe populations with “optimal behavior,” but populations which can “learn.” This lesser short-term efficiency may be why natural diversity is so great. Evolution is seen to be “driven” by the noise to which it leads. (shrink)

Collection of essays around the work of H.L.A. Hart.