A clinical and molecular genetic investigation of X-linked Congenital Stationary Night Blindness.

Aims: This study examines the clinical and molecular genetic features of X-linked Congenital Stationary Night Blindness (XLCSNB). The aims are to accurately document the phenotype of affected subjects by investigating functional visual deficit, to evaluate possible disease mechanisms and to confirm or refute the veracity of the "complete" and "incomplete" descriptions of phenotype in common clinical usage. In addition, by identifying causative gene mutations in the pedigrees studied, the study investigates the possibility of a genotype-phenotype correlation.;Methods: Members of fifteen families previously diagnosed as having XLCSNB underwent standardised clinical, psychophysical and electrophysiological phenotypic testing. Comprehensive mutation screening of the genes ATX and CACNAlFwas performed for each pedigree.;Results: Seven different loss-of-function mutations in the NYX gene were identified in 11 families and three mutations in the CACNA1F gene were identified in another three pedigrees. No mutations were detected in members of the remaining pedigree and this family was excluded from further study. Electrophysiological and psychophysical evidence of a functioning but impaired rod system was present in subjects from each genotype group, although scotopic responses tended to be more severely affected in subjects with NYX gene mutations. Scotopic oscillator potentials were absent in all subjects with AYXgene mutations whilst subnormal OFF responses were specific to subjects with CACNA IF gene mutations.;Conclusions: NYX gent mutations were a more frequent cause of XLCSNB than CACNA IF gene mutations in the 15 British families studied. Since evidence of a functioning rod system was identified in the majority of subjects tested, the clinical phenotypes "complete" and "incomplete" do not correlate with genotype. Instead, electrophysiological indicators of inner retinal function, specifically the characteristics of scotopic oscillatory potentials, 30Hz flicker and the OFF response may prove more discriminatory

From Molecular Cores to Planet-forming Disks: An SIRTF Legacy Program

Wetensch. publicatieFaculteit der Wiskunde en Natuurwetenschappe

A grid-enabled problem solving environment for parallel computational engineering design

This paper describes the development and application of a piece of engineering software that provides a problem solving environment (PSE) capable of launching, and interfacing with, computational jobs executing on remote resources on a computational grid. In particular it is demonstrated how a complex, serial, engineering optimisation code may be efficiently parallelised, grid-enabled and embedded within a PSE. The environment is highly flexible, allowing remote users from different sites to collaborate, and permitting computational tasks to be executed in parallel across multiple grid resources, each of which may be a parallel architecture. A full working prototype has been built and successfully applied to a computationally demanding engineering optimisation problem. This particular problem stems from elastohydrodynamic lubrication and involves optimising the computational model for a lubricant based on the match between simulation results and experimentally observed data

The luminosities of protostars in the spitzer c2d and gould belt legacy clouds

Journal ArticlePublished version available online at the Astronomical Journal, Volume 145, Number 4, Article 94; doi: doi: 10.1088/0004-6256/145/4/94Motivated by the long-standing "luminosity problem" in low-mass star formation whereby protostars are underluminous compared to theoretical expectations, we identify 230 protostars in 18 molecular clouds observed by two Spitzer Space Telescope Legacy surveys of nearby star-forming regions. We compile complete spectral energy distributions, calculate L bol for each source, and study the protostellar luminosity distribution. This distribution extends over three orders of magnitude, from 0.01 L ȯ to 69 L ȯ, and has a mean and median of 4.3 L ȯ and 1.3 L ȯ, respectively. The distributions are very similar for Class 0 and Class I sources except for an excess of low luminosity (L bol ≲ 0.5 L) Class I sources compared to Class 0. 100 out of the 230 protostars (43%) lack any available data in the far-infrared and submillimeter (70 μm <λ < 850 μm) and have L bol underestimated by factors of 2.5 on average, and up to factors of 8-10 in extreme cases. Correcting these underestimates for each source individually once additional data becomes available will likely increase both the mean and median of the sample by 35%-40%. We discuss and compare our results to several recent theoretical studies of protostellar luminosities and show that our new results do not invalidate the conclusions of any of these studies. As these studies demonstrate that there is more than one plausible accretion scenario that can match observations, future attention is clearly needed. The better statistics provided by our increased data set should aid such future work. © 2013. The American Astronomical Society. All rights reserved..National Science FoundationNational Aeronautics and Space AdministrationJet Propulsion Laboratory, California Institute of Technolog

Combined local and equilateral non-Gaussianities from multifield DBI inflation

We study multifield aspects of Dirac-Born-Infeld (DBI) inflation. More specifically, we consider an inflationary phase driven by the radial motion of a D-brane in a conical throat and determine how the D-brane fluctuations in the angular directions can be converted into curvature perturbations when the tachyonic instability arises at the end of inflation. The simultaneous presence of multiple fields and non-standard kinetic terms gives both local and equilateral shapes for non-Gaussianities in the bispectrum. We also study the trispectrum, pointing out that it acquires a particular momentum dependent component whose amplitude is given by $f_{NL}^{loc} f_{NL}^{eq}$. We show that this relation is valid in every multifield DBI model, in particular for any brane trajectory, and thus constitutes an interesting observational signature of such scenarios.Comment: 38 pages, 11 figures. Typos corrected; references added. This version matches the one in press by JCA

How generic is cosmic string formation in SUSY GUTs

We study cosmic string formation within supersymmetric grand unified theories. We consider gauge groups having a rank between 4 and 8. We examine all possible spontaneous symmetry breaking patterns from the GUT down to the standard model gauge group. Assuming standard hybrid inflation, we select all the models which can solve the GUT monopole problem, lead to baryogenesis after inflation and are consistent with proton lifetime measurements. We conclude that in all acceptable spontaneous symmetry breaking schemes, cosmic string formation is unavoidable. The strings which form at the end of inflation have a mass which is proportional to the inflationary scale. Sometimes, a second network of strings form at a lower scale. Models based on gauge groups which have rank greater than 6 can lead to more than one inflationary era; they all end by cosmic string formation.Comment: 31 pages, Latex, submitted to PR

Grain Surface Models and Data for Astrochemistry

AbstractThe cross-disciplinary field of astrochemistry exists to understand the formation, destruction, and survival of molecules in astrophysical environments. Molecules in space are synthesized via a large variety of gas-phase reactions, and reactions on dust-grain surfaces, where the surface acts as a catalyst. A broad consensus has been reached in the astrochemistry community on how to suitably treat gas-phase processes in models, and also on how to present the necessary reaction data in databases; however, no such consensus has yet been reached for grain-surface processes. A team of ∼25 experts covering observational, laboratory and theoretical (astro)chemistry met in summer of 2014 at the Lorentz Center in Leiden with the aim to provide solutions for this problem and to review the current state-of-the-art of grain surface models, both in terms of technical implementation into models as well as the most up-to-date information available from experiments and chemical computations. This review builds on the results of this workshop and gives an outlook for future directions

Marking gender studies:the (Radical) value of creative-critical assessment

Feminist pedagogies have established the need to query power structures in terms of curriculum content and teaching praxis. However, the topic of student assessment poses difficulties: it is a means through which students’ performance is evaluated and quantified according to set institutionalised criteria that values particular forms of hegemonic knowledge. The following article presents a self-reflexive exploration of assessment within a Gender Studies module taught in the Autumn semesters of the 2017/18 and 2018/19 academic years at a UK university. The module was a core component of the institution’s MA in Gender Studies. This was an exciting opportunity to experiment with assessment styles corresponding to feminist pedagogies to help develop students’ and instructors’ disciplinary scope and explore the radical potential for creative-critical approaches to assessment. This article outlines some the challenges of employing alternative modes of learning and teaching from a feminist perspective and suggests some strategies to address these

Yersinia effectors target mammalian signalling pathways

Animals have an immune system to fight off challenges from both viruses and bacteria. The first line of defence is innate immunity, which is composed of cells that engulf pathogens as well as cells that release potent signalling molecules to activate an inflammatory response and the adaptive immune system. Pathogenic bacteria have evolved a set of weapons, or effectors, to ensure survival in the host. Yersinia spp. use a type III secretion system to translocate these effector proteins, called Yops, into the host. This report outlines how Yops thwart the signalling machinery of the host immune system.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/73466/1/j.1462-5822.2002.00182.x.pd