The rapid rise of international collaborative science has enabled access to genomic data. In this article, it is argued that to move beyond mapping genomic variation to understanding its role in complex disease aetiology and treatment will require extending data sharing for the purposes of clinical research translation and implementation.

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)

Francis J. Ambrosiso begins with sentence that is either self-effacing or alarming “Truly, I do not know why I must write this book, so I must begin by asking for your forgiveness for having done son without knowing why and therefore, necessarily, without knowing how.” An Associate Professor of Philosophy at Georgetown University, Ambrosio believes “the difference the book makes is this: it traces and remarks in the texts of Dante and Derrida two episodes in the history of forgiveness” (p. (...) xi). (shrink)

Hud Hudson offers a fascinating examination of philosophical reasons to believe in hyperspace. He explores non-theistic reasons in the first chapter and theistic ones towards the end; in the intervening sections he inquires into a variety of puzzles in the metaphysics of material objects that are either generated by the hypothesis of hyperspace or else informed by it, with discussions of receptacles, boundaries, contact, occupation, and superluminal motion. Anyone engaged with contemporary metaphysics, and many philosophers of religion, will find (...) much to stimulate them here. (shrink)

So a frenzied matron cries out to Phoebus as she rushes through an appalled Rome. In CQ 34 , 454f. I pointed out that the words primos in ortus could not here bear their normal sense ‘to the far east’ , which in view of the next line would be geographically absurd, and, distraught as the lady was, even so highly improbable. I did, however, then think R. J. Getty right in taking the expression primos ortus as simply = ‘the (...) east’, and adding ‘the epithet primos appears to be otiose’. But I now feel very doubtful about the epithet being viewed as otiose in order that the words may denote Egypt; quite different are the passages noted in OLD primus 6 ‘belonging to the rising sun, eastern’, as Stat. Silv. 1.4.73 ‘occidiias primasque domos’ in the cited Sen. Oed. 116 ‘miles… ausus Eois equitare campis / figere et mundo tua signa primo’ the literal meaning is no doubt ‘on the world's first edge’ , but its development into ‘eastern’ is readily seen. Egypt, however, as viewed by Rome, is but the bare beginning of the east, and that is what primos must indicate above : see OLD primus 10 b ‘the nearest part of, the entrance, threshold, or sim., of, noting e.g. Ov. Fast. 1.717 ‘horreat Aeneadas et primus et ultimus orbis’, Cic. Fam. 3.6.2. ‘te in prima prouincia uelle esse, ut quam primum decederes’. In a characteristic departure from their stock meaning Lucan's words primos in ortus must then mean ‘to the threshold of the east’, i.e. the delta of the Nile, as explained in the next line : contrast 7.360 primo gentes oriente = ‘the nations of the far east’ . For Egypt viewed as the beginning of the east, cf. Mela 1.9 ‘Asiae prima pars Aegyptus’, Plin. Nat. 5.47 ‘[Africae] adhaeret Asia, quam patere a Canopico ostio [Nili] ad Ponti ostium Timosthenes…tradidit’, Mart. Cap. 6.675 ‘Aegyptus… Asiae caput, 3 quae una ab ostio Canopi ad ostium Ponti habet… milia passuum’; cf. the close association of Egypt with the east in Virg. Aen. 8.687 ‘Aegyptum uiresque Orientis’. For the varied use of the word primus should be noted too Luc. 9.413f. ‘nee… plus litora Nili / quam Scythicus Tanais primis a Gadibus absunt’, ‘from Gades in the far west’ , ‘Gades the first place in the west’ , i.e. the threshold of the Mediterranean. (shrink)

This discussion is grounded in Aristotelian–Thomistic realism and takes the position that nursing is a practical science. As an exposition of the title statement, distinctions are made between opinion and truth, and the speculative, productive and practical sciences. Sources of opinion and truth are described and a discussion follows that truth can be achieved through knowing principles and causes of the natural kind behind phenomena. It is proposed that humans are the natural kind behind nursing phenomena. Thus, human nature provides (...) proper principles (the truth) of nursing practice. (shrink)

The remarks I wish to make upon the Thucydides scholia in Bâle University MS. no. E III 4 will be clearer if prefaced by an outline history of the scholia to Thucydides in general.The editio princeps contained no scholia. They made their first appearance in the following year as an appendix to the Aldine Gemistius and Herodian. The same scholia were then reprinted in the Juntine edition as a frame to the text. In the Hervagian edition of Camerarius they were (...) relegated to the end, and Camerarius claims in his prefatory epistle to have expended some trouble in emending them. Henceforward the same corpus of scholia, unchanged save for occasional emendation, passes on from edition to edition, either framing the text, as in Stephanus, or beneath it, as in Stephanus, Hudson, Duker, Gottleber-Bauer-Beck. (shrink)

The text quoted above each note is that of the edition of Seneca's tragedies by Otto Zwierlein , OCT 1986; numerous passages are discussed in his Kritischer Kommentar zu den Tragüdien Senecas , Stuttgart, 1986; various textual suggestions were made in a correspondence with Zw. by B. Axelson . Other works on Seneca's tragedies, referred to by the scholar's name only, are: Text and translation: F. J. Miller, Loeb, 1917; L. Herrmann, Budé, 1924–6. Text with commentary: R. J. Tarrant, Agamemnon (...) , and Thyestes ; J. G. Fitch, Hercules Furens . Text with commentary and translation: Elaine Fantham, Troades ; A. J.Boyle, Phaedra. (shrink)

This volume consists of 21 essays on Marsilio Ficino (1433-99), the Florentine scholar-philosopher-magus-priest who was the architect of Renaissance Platonism.

Whether or not it is coherent to place hope in a future life beyond the grave has become a central question in the larger debate about whether a materialist view of human persons can accommodate Christian belief. Hud Hudson defends a four-dimensional account of resurrection in order to avoid persistent difficulties experienced by three-dimensionalist animalism. I present two difficulties unique to Hudson’s view. The first problem of counterpart hope is a manifestation of a general weakness of four-dimensional views (...) to accommodate adequately prudential concern about one’s future self. More significantly, the second problem of quasi hope demonstrates that even if a temporal parts view can accommodate the possibility of future resurrection it necessarily leaves human beings in the dark about their individual futures and thus incapable of hope. I conclude that whatever its merits in demonstrating the possibility of resurrection, four-dimensionalist materialism cannot accommodate veridical Christian hope. (shrink)

A universal Horn sentence in the language of polynomial-time computable combinatorial functions of natural numbers is true for the natural numbers if, and only if, it is true for PETs of p-time p-isolated sets with functions induced by fully p-time combinatorial operators.