Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1

Peer reviewe

Towards disappearing user interfaces for ubiquitous computing: human enhancement from sixth sense to super senses

The enhancement of human senses electronically is possible when pervasive computers interact unnoticeably with humans in Ubiquitous Computing. The design of computer user interfaces towards “disappearing” forces the interaction with humans using a content rather than a menu driven approach, thus the emerging requirement for huge number of non-technical users interfacing intuitively with billions of computers in the Internet of Things is met. Learning to use particular applications in Ubiquitous Computing is either too slow or sometimes impossible so the design of user interfaces must be naturally enough to facilitate intuitive human behaviours. Although humans from different racial, cultural and ethnic backgrounds own the same physiological sensory system, the perception to the same stimuli outside the human bodies can be different. A novel taxonomy for Disappearing User Interfaces (DUIs) to stimulate human senses and to capture human responses is proposed. Furthermore, applications of DUIs are reviewed. DUIs with sensor and data fusion to simulate the Sixth Sense is explored. Enhancement of human senses through DUIs and Context Awareness is discussed as the groundwork enabling smarter wearable devices for interfacing with human emotional memories

Regional Selection Acting on the OFD1 Gene Family

The OFD1 (oral-facial-digital, type 1) gene is implicated in several developmental disorders in humans. The X-linked OFD1 (OFD1X) is conserved in Eutheria. Knowledge about the Y-linked paralog (OFD1Y) is limited. In this study, we identified an OFD1Y on the bovine Y chromosome, which is expressed differentially from the bovine OFD1X. Phylogenetic analysis indicated that: a) the eutherian OFD1X and OFD1Y were derived from the pair of ancestral autosomes during sex chromosome evolution; b) the autosomal OFD1 pseudogenes, present in Catarrhini and Murinae, were derived from retropositions of OFD1X after the divergence of primates and rodents; and c) the presence of OFD1Y in the ampliconic region of the primate Y chromosome is an indication that the expansion of the ampliconic region may initiate from the X-degenerated sequence. In addition, we found that different regions of OFD1/OFD1X/OFD1Y are under differential selection pressures. The C-terminal half of OFD1 is under relaxed selection with an elevated Ka/Ks ratio and clustered positively selected sites, whereas the N-terminal half is under stronger constraints. This study provides some insights into why the OFD1X gene causes OFD1 (male-lethal X-linked dominant) and SGBS2 & JSRDs (X-linked recessive) syndromes in humans, and reveals the origin and evolution of the OFD1 family, which will facilitate further clinical investigation of the OFD1-related syndromes

Technological competence is a precondition for effective implementation of virtual reality head mounted displays in human neuroscience:A technological review and meta-analysis

International audienceImmersive virtual reality (VR) emerges as a promising research and clinical tool. However, several studies suggest that VR induced adverse symptoms and effects (VRISE) may undermine the health and safety standards, and the reliability of the scientific results. In the current literature review, the technical reasons for the adverse symptomatology are investigated to provide suggestions and technological knowledge for the implementation of VR head-mounted display (HMD) systems in cognitive neuroscience. The technological systematic literature indicated features pertinent to display, sound, motion tracking, navigation, ergonomic interactions, user experience, and computer hardware that should be considered by the researchers. Subsequently, a meta-analysis of 44 neuroscientific or neuropsychological studies involving VR HMD systems was performed. The meta-analysis of the VR studies demonstrated that new generation HMDs induced significantly less VRISE and marginally fewer dropouts. Importantly, the commercial versions of the new generation HMDs with ergonomic interactions had zero incidents of adverse symptomatology and dropouts. HMDs equivalent to or greater than the commercial versions of contemporary HMDs accompanied with ergonomic interactions are suitable for implementation in cognitive neuroscience. In conclusion, researchers' technological competency, along with meticulous methods and reports pertinent to software, hardware, and VRISE, are paramount to ensure the health and safety standards and the reliability of neuroscientific results

MisTable: reach-through personal screens for tabletops

We present MisTable, a tabletop system that combines a conventional horizontal interactive surface with personal screens between the user and the tabletop surface. These personal screens, built using fog, are both see-through and reach-through. Being see-through provides direct line of sight of the personal screen and the elements behind it on the tabletop. Being reach-through allows the user to switch from interacting with the personal screen to reaching through it to interact with the tabletop or the space above it. The personal screen allows a range of customisations and novel interactions such as presenting 2D personal contents on the screen, 3D contents above the tabletop or augmenting and relighting tangible objects differently for each user. Besides, having a personal screen for each user allows us to customize the view of each of them according to their identity or preferences. Finally, the personal screens preserve all well-established tabletop interaction techniques like touch and tangible interactions. We explore the challenges in building such a reach-through system through a proof-of-concept implementation and discuss the possibilities afforded by the system