Deletion 5q12: Delineation of a Phenotype Including Mental Retardation and Ocular Defects

Array-CGH enables the detection of submicroscopic chromosomal deletions and duplications and leads to an accurate delineation of the imbalances, raising the possibility of correlating genotype to phenotype and mapping minimal critical regions associated with particular patterns of clinical features. We report here on four patients sharing common clinical features (psychomotor retardation, coarse facies and ocular anomalies), with proximal 5q deletions identified by oligo array-CGH. The deletions range from 5.75 to 17.26-Mb in size and occurred de novo. A common 2.63-Mb region between the deletions described here can be defined in 5q12.1 (59,390,122-62,021,754 bp bp from 5pter, hg18) and includes 12 genes. Among them, KIF2A, which encodes a kinesin superfamily protein, is a particularly interesting candidate for the phenotype, as it suppresses the growth of axonal collateral branches and is involved in normal brain development. Ocular defects, albeit unspecific, seem to be common in the 5q12.1 deletion. Identification of additional cases of deletions involving the 5q12.1 region will allow more accurate genotype-phenotype correlations. (C) 2011 Wiley-Liss, Inc.

Taking advantage of contextualized interactions while users watch TV

While watching TV, viewers use the remote control to turn the TV set on and off, change channel and volume, to adjust the image and audio settings, etc. Worldwide, research institutes collect information about audience measurement, which can also be used to provide personalization and recommendation services, among others. The interactive digital TV offers viewers the opportunity to interact with interactive applications associated with the broadcast program. Interactive TV infrastructure supports the capture of the user-TV interaction at fine-grained levels. In this paper we propose the capture of all the user interaction with a TV remote control-including short term and instant interactions: we argue that the corresponding captured information can be used to create content pervasively and automatically, and that this content can be used by a wide variety of services, such as audience measurement, personalization and recommendation services. The capture of fine grained data about instant and interval-based interactions also allows the underlying infrastructure to offer services at the same scale, such as annotation services and adaptative applications. We present the main modules of an infrastructure for TV-based services, along with a detailed example of a document used to record the user-remote control interaction. Our approach is evaluated by means of a proof-of-concept prototype which uses the Brazilian Digital TV System, the Ginga-NCL middleware.