Europe 1992: implications for U.S. firms

European Economic Community

Exome sequencing identifies a missense variant in EFEMP1 co-segregating in a family with autosomal dominant primary open-angle glaucoma

Primary open-angle glaucoma (POAG) is a clinically important and genetically heterogeneous cause of progressive vision loss as a result of retinal ganglion cell death. Here we have utilized trio-based, whole-exome sequencing to identify the genetic defect underlying an autosomal dominant form of adult-onset POAG segregating in an African-American family. Exome sequencing identified a novel missense variant (c.418C>T, p.Arg140Trp) in exon-5 of the gene coding for epidermal growth factor (EGF) containing fibulin-like extracellular matrix protein 1 (EFEMP1) that co-segregated with disease in the family. Linkage and haplotype analyses with microsatellite markers indicated that the disease interval overlapped a known POAG locus (GLC1H) on chromosome 2p. The p.Arg140Trp substitution was predicted in silico to have damaging effects on protein function and transient expression studies in cultured cells revealed that the Trp140-mutant protein exhibited increased intracellular accumulation compared with wild-type EFEMP1. In situ hybridization of the mouse eye with oligonucleotide probes detected the highest levels of EFEMP1 transcripts in the ciliary body, cornea, inner nuclear layer of the retina, and the optic nerve head. The recent finding that a common variant near EFEMP1 was associated with optic nerve-head morphology supports the possibility that the EFEMP1 variant identified in this POAG family may be pathogenic

Surface and interstitial Ti diffusion at the rutile TiO2(110) surface

Diffusion of Ti through the TiO2 (110) rutile surface plays a key role in the growth and reactivity of TiO2. To understand the fundamental aspects of this important process, we present an analysis of the diffusion of Ti adspecies at the stoichiometric TiO2(110) surface using complementary computational methodologies of density functional theory corrected for on-site Coulomb interactions (DFT+U) and a charge equilibration (QEq) atomistic potential to identify minimum energy pathways. We find that diffusion of Ti from the surface to subsurface (and vice versa) follows an intersticialcy exchange mechanism, involving exchange of surface Ti with the 6-fold coordinated Ti below the bridging oxygen rows. Diffusion in the subsurface between layers also follows an interstitialcy mechanism. The diffusion of Ti is discussed in light of continued attempts to understand the re-oxidation of non-stoichiometric TiO2(110) surfaces

Perceptual and performance consequences of flight in virtual worlds

There are two primary purposes for head-mounted systems in aeronautical settings. One is for helmet-mounted sights and teleoperated (head-slaved) weapons systems. Bennett, Johnson, Perrone, and Phatak (1988) evaluated head tracking performance during passive and controlled flight. In that study, comparisons were also made of head tracking performance in sterile and relatively complex virtual worlds. That study confirmed the robustness of head tracking performance across a wide variety of visual scenes. A second use of virtual world displays is for aircraft control. Aircraft controllability using head-mounted, panel-mounted, or simulated out-the-window scenes has been systematically examined. Those studies reported the range of rotorcraft flight tasks in which head-mounted virtual worlds provided some advantages. Two studies will be reported that examine the perceptual/performance effects of virtual worlds. The first examines head tracking performance with roll-stabilized versus non-roll stabilized virtual worlds. The purpose of the study was to (1) examine display strategies used in current display systems and (2) study the adaptability of observers to estimated glide slope angles using head-slaved versus head-stabilized imagery. The purpose of this study was to examine the usefulness of wide field-of-regards during final approaches to a runway

Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract

BACKGROUND: Inherited cataract is a clinically important and genetically heterogeneous cause of visual impairment. Typically, it presents at an early age with or without other ocular/systemic signs and lacks clear phenotype-genotype correlation rendering both clinical classification and molecular diagnosis challenging. Here we have utilized trio-based whole exome sequencing to discover mutations in candidate genes underlying autosomal dominant cataract segregating in three nuclear families. RESULTS: In family A, we identified a recurrent heterozygous mutation in exon-2 of the gene encoding γD-crystallin (CRYGD; c.70C > A, p.Pro24Thr) that co-segregated with ‘coralliform’ lens opacities. Families B and C were found to harbor different novel variants in exon-2 of the gene coding for gap-junction protein α8 (GJA8; c.20T > C, p.Leu7Pro and c.293A > C, p.His98Pro). Each novel variant co-segregated with disease and was predicted in silico to have damaging effects on protein function. CONCLUSIONS: Exome sequencing facilitates concurrent mutation-profiling of the burgeoning list of candidate genes for inherited cataract, and the results can provide enhanced clinical diagnosis and genetic counseling for affected families. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s40246-014-0019-6) contains supplementary material, which is available to authorized users

Robotic ultrasonic testing of AGR fuel cladding

The purpose of the presented work was to undertake experimental trials to demonstrate the potential capabilities of an in-situ robotic ultrasonic scanning technique for measuring and monitoring loss of the cladding wall thickness in fuel pins of Advanced Gas-cooled Reactors (AGR) using inactive (i.e. non-radioactive) samples. AGR fuel pins are stainless steel cylindrical ribbed pipes of length circa of 1000 mm, inner diameter of the rod being circa 15 mm and wall thickness of circa 300µm. Spent AGR fuel pins are stored in a water pond and thus may be prone to corrosion and stresscorrosion cracking under adverse conditions. An ultrasonic immersion transducer with central frequency of 25MHz was used to measure wall thickness of the AGR fuel cladding using a frequency domain technique. Cylindrical ultrasonic scan of the samples 2 was performed using industrial robotic arm KUKA KR 5 arc HW. Also, very short (2.5mm long) and shallow (100µm in depth) crack-like defects were detected using time-domain technique

Mutual information--based approach to adaptive homodyne detection of quantum optical states

I propose an approach to adaptive homodyne detection of digitally modulated quantum optical pulses in which the phase of the local oscillator is chosen to maximize the average information gain, i.e., the mutual information, at each step of the measurement. I study the properties of this adaptive detection scheme by considering the problem of classical information content of ensembles of coherent states. Using simulations of quantum trajectories and visualizations of corresponding measurement operators, I show that the proposed measurement scheme adapts itself to the features of each ensemble. For all considered ensembles of coherent states, it consistently outperforms heterodyne detection and Wiseman's adaptive scheme for phase measurements [H.M. Wiseman, Phys. Rev. Lett. 75, 4587 (1995)].Comment: Submutted to Phys. Rev.

The effectiveness of quantum operations for eavesdropping on sealed messages

A quantum protocol is described which enables a user to send sealed messages and that allows for the detection of active eavesdroppers. We examine a class of eavesdropping strategies, those that make use of quantum operations, and we determine the information gain versus disturbance caused by these strategies. We demonstrate this tradeoff with an example and we compare this protocol to quantum key distribution, quantum direct communication, and quantum seal protocols.Comment: 10 pages, 2 figures. Third Feynman Festival, 25 -- 29 August 2006, University of Maryland, College Park, Maryland, U.S.