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)

El libro está constituido por un conjunto de ensayos de carácter multidisciplinario sobre diferentes visiones del concepto de calidad de vida, presentados en una conferencia realizada en Helsinski durante el mes de julio de 1988 organizada por Martha Nussbaum y Amartya Sen. La obra probablemente constituye el resultado de un primer gran esfuerzo de carácter internacional por confrontar ideas entre filósofos, sociólogos, médicos y economistas con el objeto de replantear el concepto de desarrol..

The notion that our society, its education system and its intellectual life, is characterised by a split between two cultures – the arts or humanities on one hand, and the sciences on the other – has a long history. But it was C. P. Snow's Rede lecture of 1959 that brought it to prominence and began a public debate that is still raging in the media today. This 50th anniversary printing of The Two Cultures and its successor piece, A Second (...) Look features an introduction by Stefan Collini, charting the history and context of the debate, its implications and its afterlife. The importance of science and technology in policy run largely by non-scientists, the future for education and research, and the problem of fragmentation threatening hopes for a common culture are just some of the subjects discussed. (shrink)

The notion that our society, its education system and its intellectual life, is characterised by a split between two cultures – the arts or humanities on one hand and the sciences on the other – has a long history. But it was C. P. Snow's Rede lecture of 1959 that brought it to prominence and began a public debate that is still raging in the media today. This fiftieth anniversary printing of The Two Cultures and its successor piece, A Second (...) Look features an introduction by Stefan Collini, charting the history and context of the debate, its implications and its afterlife. The importance of science and technology in policy run largely by non-scientists, the future for education and research, and the problem of fragmentation threatening hopes for a common culture are just some of the subjects discussed. (shrink)

There have been many claims that quantum mechanics plays a key role in the origin and/or operation of biological organisms, beyond merely providing the basis for the shapes and sizes of biological molecules and their chemical affinities. These range from Schr¨odinger’s suggestion that quantum fluctuations produce mutations, to Hameroff and Penrose’s conjecture that quantum coherence in microtubules is linked to consciousness. I review some of these claims in this paper, and discuss the serious problem of decoherence. I advance some further (...) conjectures about quantum information processing in bio-systems. Some possible experiments are suggested. © 2004 Elsevier Ireland Ltd. All rights reserved. (shrink)

Institute of Theoretical Astronomy, University of Cambridge, Cambridge, UK 3fS. received 28th August 1970, in final revised form 1st July 1971..

An inquiry into the nature of the universe draws out the implications of the quantum theory and argues that our universe is only one among many possible universes and that other universes may exist.

Offering an original perspective on the central project of Descartes' Meditations, this book argues that Descartes' free will theodicy is crucial to his refutation of skepticism. A common thread runs through Descartes' radical First Meditation doubts, his Fourth Meditation discussion of error, and his pious reconciliation of providence and freedom: each involves a clash of perspectives-thinking of God seems to force conclusions diametrically opposed to those we reach when thinking only of ourselves. Descartes fears that a skeptic could exploit this (...) clash of perspectives to argue that Reason is not trustworthy because self-contradictory. To refute the skeptic and vindicate the consistency of Reason, it is not enough for Descartes to demonstrate that our Creator is perfect; he must also show that our errors cannot prove God's imperfection. To do this, Descartes invokes the idea that we err freely. However, prospects initially seem dim for this free will theodicy, because Descartes appears to lack any consistent or coherent understanding of human freedom. In an extremely in-depth analysis spanning four chapters, Ragland argues that despite initial appearances, Descartes consistently offered a coherent understanding of human freedom: for Descartes, freedom is most fundamentally the ability to do the right thing. Since we often do wrong, actual humans must therefore be able to do otherwise-our actions cannot be causally determined by God or our psychology. But freedom is in principle compatible with determinism: while leaving us free, God could have determined us to always do the good. Though this conception of freedom is both consistent and suitable to Descartes' purposes, when he attempts to reconcile it with divine providence, Descartes's strategy fails, running afoul of his infamous doctrine that God created the eternal truths. (shrink)