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)

Several problems that pertain to certain arithmetically well-behaved countable subsemirings of Λ, the semiring of isols, are discussed. This is relevant to the present volume memorializing the late John Myhill, in that Myhill was an early co-developer of the theory of Λ.

I. Wesen und entwicklung des humanitätsgedankens.--II. Der socialismus.--III. Der individualismus.--IV. Der utilitarianismus.--V. Der pessimismus.--VI. Der evolutionismus.--VII. Der positivismus.--VIII. Nietzsches uebermensch.--IX. Die hauptgrundsätze einer modernen humanitätsethik.

At all times, the book was understood not only as a means of preserving and transforming knowledge, but also as a means of knowing the world around us. At the same time, from ancient times it was a subject of knowledge. Gradually its theoretical phenomenon was formed. The book essentially is the most important form of consolidation and transfer of information in space and time. From the point of view of the theory of communication, the book serves as one of (...) the forms of existence and dissemination of semantic information, a means of organizing the work of individual consciousness into a sign system for the perception of its social consciousness. After all, the evolution of the book is inextricably linked with the history of mankind. She is the foundation on which the culture of peoples is built. It helps society to grow and improve, borrow and use all the mass of knowledge accumulated by mankind. The book is the most complete and comprehensive expression of the spiritual culture of mankind, since its origin and development are inextricably linked with it. (shrink)

The study of the formation of the literary culture of the words of the "peoples of the nations" is impossible without analyzing the role of libraries of monasteries and cathedrals as centers of documentary memory of the Christian past. After all, the library, as a social institution, has always played an important role in the development of education, science, culture, and religious thought on a long path to its development.

While ante rem structuralism offers a promising account of mathematical truth and mathematical ontology, several of the most prominent formulations of the view seem to be subject to significant difficulties involving the identity conditions of the objects they posit. In this paper I argue that those difficulties can be overcome by adopting encoding structuralism, a version of realism about mathematical objects developed by Bernard Linsky, Uri Nodelman and Edward Zalta.