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

Peer reviewe

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

Optimal Economic Growth Using Fiscal and Monetary Policies

The literature on growth theory is rich with models attempting to explain growth differences among countries. Several variables have been proposed many of which were found to be positively related to growth. However, a major problem with these models is that the factors explaining growth are endogenously determined by their environment so that a slow-growing or a poor country will find itself helpless because all the crucial variables it has `inherited' are either deficient or inexistent. We propose policyoriented model that empowers (poor or slow-growing) countries in the sense that they can use economic policies to achieve high growth and eliminate the gap of unused productive capacity of society. We demonstrate that such objectives are possible by manipulating some key control variables, namely the rate of interest and the net government spending

A Class of Solvable Optimal Stopping Problems of Spectrally Negative Jump Diffusions

We consider the optimal stopping of a class of spectrally negative jump diffusions. We state a set of conditions under which the value is shown to have a representation in terms of an ordinary nonlinear programming problem. We establish a connection between the considered problem and a stopping problem of an associated continuous diffusion process and demonstrate how this connection may be applied for characterizing the stopping policy and its value. We also establish a set of typically satisfied conditions under which increased volatility as well as higher jump-intensity decelerates rational exercise by increasing the value and expanding the continuation region

Optimal Dividend Control in Presence of Downside Risk

We analyze the determination of a value maximizing dividend policy for a broad class of cash flow processes modelled as spectrally negative jump diffusions. We extend previous results based on continuous diffusion models and characterize the value of the optimal dividend policy explicitly. Utilizing this result, we also characterize explicitly the values as well as the optimal dividend thresholds for a class of associated optimal stopping and sequential impulse control problems. Our results indicate that both the value as well as the marginal value of the optimal policy are increasing functions of policy flexibility in the discontinuous setting as well