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)

Artificial social intelligence (ASI) agents have great potential to aid the success of individuals, human–human teams, and human–artificial intelligence teams. To develop helpful ASI agents, we created an urban search and rescue task environment in Minecraft to evaluate ASI agents’ ability to infer participants’ knowledge training conditions and predict participants’ next victim type to be rescued. We evaluated ASI agents’ capabilities in three ways: (a) comparison to ground truth—the actual knowledge training condition and participant actions; (b) comparison among different ASI (...) agents; and (c) comparison to a human observer criterion, whose accuracy served as a reference point. The human observers and the ASI agents used video data and timestamped event messages from the testbed, respectively, to make inferences about the same participants and topic (knowledge training condition) and the same instances of participant actions (rescue of victims). Overall, ASI agents performed better than human observers in inferring knowledge training conditions and predicting actions. Refining the human criterion can guide the design and evaluation of ASI agents for complex task environments and team composition. (shrink)

Le philosophe canadien Charles Taylor est un des penseurs contemporains qui jouit d’une reconnaissance mondiale : il a initié et participé à plusieurs débats relatifs au libéralisme, au communautarisme et au multiculturalisme. Son œuvre est pluridimensionnelle puisque ses travaux portant, entre autres, sur la théorie de science, la théorie du langage, la théorie de l’action et de la personne, la théorie de la modernité.La pensée de Charles Taylor s’est élaborée non seulement en se nourrissant des traditions aussi bien phénoménologique qu’analytique, (...) mais, très concrètement, en prise directe avec les problèmes soulevés dans la société canadienne par la très grande diversité des immigrations. Sa pensée mérite d’autant plus à être méditée que les tentations de repli communautaire, si ce n’est de purification ethnique, semblent aujourd’hui croissantes. Les contributions – pour moitié en anglais – de ce colloque organisé à Budapest en 2012 en l’honneur et en présence de Charles Taylor invitent au contraire à interroger et à poursuivre son analyse des conditions qui permettraient l’avènement d’un monde véritablement pluriel. (shrink)

I argue that a particle ontology naturally emerges from the basic dynamical equations of non-relativistic quantum mechanics, when the quantum continuity equation is realistically interpreted. This was recognized by J.J. Sakurai in his famous textbook “Modern Quantum Mechanics”, and then dismissed on the basis of the Heisenberg position–momentum uncertainty principle. In this paper, I show that the reasons of this rejection are based on a misunderstanding of the physical import of the uncertainty principle. As a consequence, a particle ontology can (...) be derived from the quantum formalism without the need of additional ad hoc assumptions, and therefore it cannot be regarded as “extra-structure”. (shrink)

The governance of human (germline) genome modification at the international and transnational level -- The regulation of human germline genome modification in Canada (E Kleiderman) -- The regulation of human germline genome modification in the United States (Kerry Macintosh) -- The regulation of human germline genome modification in Mexico (M Medina Arellano) -- The regulation of human germline genome modification in Europe (J Almqvist, C Romano) -- The regulation of human germline genome modification in the United Kingdom (J Lawford (...) Davies) -- The regulation of human germline genome modification in Germany (T Faltus). (shrink)

Tras el estudio inicial de R. Bultmann, y pasando por los significativos aportes de S. K. Stowers y C. Song, el extenso reconocimiento por parte de los exégetas paulinos relativo a la presencia del género diatriba en Romanos, no se corresponde con los comentarios generalizantes de los cuales es objeto μὴ γένοιτο en dicha epístola. En este marco, al momento de determinar el sentido de μὴ γένοιτο en Romanos los exégetas paulinos se limitan a: constatar la relación entre μὴ γένοιτο (...) y el género diatriba; mencionar las similitudes entre el uso paulino de μὴ γένοιτο en Romanos y el uso de μὴ γένοιτο por parte de Epicteto en su Disertaciones; proveer una lista de los pasajes en los que se encuentra μὴ γένοιτο en Romanos ; conjeturar, en algunos casos, un ; semítico trasfondo posible destacar que μὴ γένοιτο siempre es antecedido por una pregunta; subrayar la naturaleza enfática de μὴ γένοιτο. (shrink)

En este artículo se analiza una recreación quijotesca en la novela de Graham Greene Monseñor Quijote. Para ello se utilizan dos términos procedentes del Derecho romano: los conceptos de autoridad y poder. En esta obra de Greene, la autoridad surge de los libros o de autores de libros, cuya lectura permite que la vida siga teniendo sentido. En Greene encontramos la estrategia de lectura conocida como las sortes virgilianae que permite a los personajes orientarse en las dificultades diarias. Sin (...) embargo, el poder está caracterizado por su condición iletrada, la ausencia de libros y su ignorancia. In this article a novel by Graham Greene entitled Monsignor Quixote is analysed, a book that involves a recreation of the novel by Cervantes. The author of this article employs two concepts from Roman law: authority and power in his analysis. In this work by Greene, authority arises from the books or the book writers, whose reading allows life to keep making sense. In Greene, a strategy of reading known as the sortes virgilianae is found and this allows the characters to get their bearings in the daily difficulties. However, power is described as illiterate, the absence of books and ignorance. (shrink)

Visual cultures are being increasingly discussed in the history of science literature, although relatively very little of that work concerns the nuclear age. In addition, within the discrete yet bourgeoning literature on global nuclear art and culture, Oceania is often overlooked despite its central role in the development of the American, British, and French nuclear weapon capabilities, as well as their associated colonial legacies. This article serves to redress both concerns by examining the visual politics of Maralinga in relation to (...) settler-colonial and Aboriginal experiences, vulnerabilities and presentations. I do so by surveying artworks with a connection to the Australian experience of nuclear colonialism and find that the figure of biological life has been conspicuously left absent from contemporary non-Indigenous Australian depictions of British nuclear testing in Australia. (shrink)

The author deals with the meaning of metamerism. Two contrary points of view may serve to clear the problem. From the morphological point of view probably outgrowth of the organism in longitudinal direction has led to the development of metameres. So the first segmentation is due to a functional differentiation. In Phylogeny this segmentation has been maintained and the originally developed metameres remain the primary morphotic units of the organisms. Further specialising of function and organ-concentration destroyed the original absolute metamerism (...) and only left a rest of the original.The functional point of view renounces an original absolute metamerism for the present moment. It only asks for the functional meaning of the segmentation in organisms, showing this segmentation. From the functional point of view it is possible that metamerism may be the morphological expression of quite different functional requirements and that in one organism the metamerism starts from another system of organs than in another.Es wird gefragt welche Bedeutung die Metamerie haben kann. Zur Erläuterung des Problems werden zwei extremen Betrachtungsweisen einander gegenübergestellt. Nach der morphologischen Betrachtungsweise hat Wachstum der Organismen in die Länge wahrscheinlich zur Ausbildung der Metamerie geführt. Diese erste Metamerie ist wahrscheinlich ein funktioneller Differenzierungsprozess gewesen.In der Phylogenese hat sich diese Metamerie behauptet und die ursprünglich entstandene Metamere sind die primären morphotischen Einheiten der Organismen geblieben. Weitergehende Funktionsspezialisierung und Organkonzentration hat die ursprüngliche absolute Metamerie vernichtet. Was davon übrig blieb sind die Reste der ursprünglichen.Die funktioneile Betrachtungsweise verzichtet vorläufig auf eine ursprüngliche absolute Metamerie. Sie fragt bloss nach der funktionellen Bedeutung, welche die Metamerie besitzt bei denjenigen Organismen, wo diese gefunden wird. Sie achtet es möglich, dass Metamerie der Ausdruck sein kann von ganz verschiedenen funktionellen Anforderungen und dass somit die Metamerie bei der einen Tiergruppe von einem ganz anderen Organsystem ausgeht wei bei einer anderen. (shrink)

Filosofische ponering van de subjectiviteit van elke interpretatie.

We prove linear and polynomial growth properties of sets and functions that are existentially definable in the ordered group of integers with divisibility. We determine the laws of addition with order and divisibility.

This book focuses on two central debates:how to introduce higher ethical standardshow to regulate business activity and prosecute offenders The authors bring ...

Rationale, aims and objectives To compare the pharmacotherapeutic approaches to diabetic hypertension of family physicians (FPs) and general practitioners (GPs). Methods A retrospective prescription-based study was conducted in 15 out of a total of 20 health centres, involving 115 primary care physicians – 77 FPs and 38 GPs, representing 74% of the primary care physicians of Bahrain. Prescriptions were collected during May and June 2000 to comprise a study population of 1266 diabetic-hypertensive patients. Results As monotherapy, angiotensin-converting enzyme (ACE) inhibitors (...) (37.9%) and β-blockers (38.3%) were the most commonly prescribed classes of antihypertensives by FPs and GPs, respectively. Calcium channel blockers (CCBs) were ranked third by both categories of physicians. For two-drug combinations, a β-blocker and an ACE inhibitor was the combination of choice for both physician categories. Patients managed by the FPs were more likely to receive a β-blocker–CCB combination (17.4 vs. 14.9%) or a diuretic–ACE inhibitor combination (16.7 vs. 11.4%) and less likely to receive a β-blocker–diuretic combination (11.8 vs. 16.7%) than those managed by the GPs. The proportion of patients receiving antihypertensive combinations was 40.6 and 38.5% for FPs and GPs, respectively. While the GPs prescribed CCB as a monotherapy to the elderly most often, the FPs choice was a β-blocker. Diuretics were less preferred by both FPs and GPs. β-Blocker–ACE inhibitor was again the most preferred combination of both FPs and GPs. FPs prescribed CCB–β-blocker combinations more often than GPs (P = 0.01), whereas CCB–ACE inhibitor combinations were less preferred (P = 0.09). A trend towards excessive use of short-acting nifedipine as monotherapy for elderly patients, both by FPs and by GPs, was noticed. Glibenclamide, alone or in combination with metformin, was the foremost antidiabetic drug prescribed by FPs and GPs. Middle-aged (45–64 years) patients seen by GPs were more likely to receive glibenclamide than those treated by FPs (P = 0.001) and less likely to receive gliclazide (P = 0.01). Combinations of a β-blocker with either glibenclamide or insulin were prescribed considerably more often by GPs.Conclusions Within the same practice setting, a substantial difference was observed between FPs and GPs in terms of preference for different classes of drugs in the management of diabetic hypertension. The compliance of both FPs and GPs was suboptimal; overall, the compliance of the FPs was closer to the recommended guidelines, however. Educational programmes should specifically address these inadequacies in order to improve the quality of health care. (shrink)

This paper reports the introduction of electronic handsets, like those used on the television show 'Who Wants To Be A Millionaire?' into the teaching of philosophical logic. Logic lectures can provide quite a formidable challenge for many students, occasionally to the point of making them ill. Our rationale for introducing handsets was threefold: to get the students thinking and talking about the subject in a public environment; to make them feel secure enough to answer questions in the lectures because the (...) system enabled them to do this anonymously; and to build their confidence about their learning by their being able to see how they were progressing in relation to the rest of the students in the class. We have achieved all of these and more. Our experience has revealed that the use of handsets encourages a more dynamic form of student interaction in an environment - the lecture - that can, in the wrong hands, be utterly enervating, but they also provide an opportunity for the lecturer to respond to students' difficulties at the time when they really matter. In this paper, we discuss our case of rapid adoption, our grounds for judging it a success, and what that success seems to have depended on. (shrink)

Marion Lee Sanders,1 Anthony James Langone2 1Department of Medicine, Division of Nephrology and Hypertension, University of Iowa, Iowa City, IA, 2Department of Medicine, Division of Nephrology and Hypertension, Vanderbilt University Medical Center, Nashville, TN, USA: Transplantation is the preferred treatment option for individuals with end-stage renal disease. Individuals who undergo transplantation must chronically be maintained on an immunosuppression regimen for rejection prophylaxis to help ensure graft survival. Current rejection prophylaxis consists of using a combination of calcineurin inhibitors, mTOR inhibitors, antimetabolite (...) agents, and/or corticosteroids. These agents have collectively improved the short-term outcomes of renal transplantation, but improvements in late/chronic graft loss and recipient survival have lagged significantly behind challenging the field of transplantation to develop novel prophylactic agents. There have been several clinical trials conducted within the last 5 years in an attempt to bring such novel agents to the commercial market. These trials have resulted in the US Food and Drug Administration approval of extended-release tacrolimus, as well as belatacept, which has the potential to replace calcineurin inhibitors for rejection prophylaxis. Other trials have focused on the development of novel calcineurin inhibitors, costimulation blockade, kinase inhibitors, and inhibitors of leukocyte migration. While these later agents have not been FDA-approved for use in transplantation, they remain noteworthy, as these agents explore pathways not previously targeted for allograft-rejection prophylaxis. The purpose of this review was to consolidate available clinical trial data with regard to the recent developments in rejection prophylaxis in kidney transplantation. Keywords: rejection, prophylaxis, immunosuppression, transplantation. (shrink)