Magnetohydrodynamic waves in a non-uniform current-carrying plasma column

An effect of an axial current on the propagation of low-frequency axisymmetric magnetohydroclynamic waves in a radially non-uniform plasma column was investigated theoretically and experimentally. It was found that the axial current and the density gradient cause a coupling between the torsional and compressional wave

Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31

Purpose: Missense mutations in the splicing factor gene PRPF31 cause a dominant form of retinitis pigmentosa (RP11) with reduced penetrance. Missense mutations in PRPF31 have previously been shown to cause reduced protein solubility, suggesting insufficiency of functional protein as the disease mechanism. Here we examine in further detail the effect of the A216P mutation on splicing function. Methods: Splicing activity was assayed using an in vivo assay in transfected mammalian cells with rhodopsin (RHO) and transducin (GNAT1) splicing templates. Pull-down assays were used to study the interaction between PRPF31 and one of its cognate partners in the spliceosome, PRPF6. Results: Splicing of RHO intron 3 and GNAT1 introns 3-5 mini-gene templates was inefficient with both spliced and unspliced products clearly detected. Assays using the RHO minigene template revealed a direct negative effect on splicing efficiency of the mutant. However, no effect of the mutation on splicing efficiency could be detected using the longer GNAT1 minigene template or using a full-length RHO transcript, splicing of which had an efficiency of 100%. No unspliced RHO transcripts could be detected in RNA from human retina. Pull-down assays between PRPF31 and PRPF6 proteins showed a stronger interaction for the mutant than wild type, suggesting a mechanism for the negative effect. Conclusions: Splicing of full-length RHO is more efficient than splicing of the minigene, and assays using a full-length template more accurately mimic splicing in photoreceptors. The RP11 missense mutations exert their pathology mainly via a mechanism based on protein insufficiency due to protein insolubility, but there is also a minor direct negative effect on function

Local and global Fokker-Planck neoclassical calculations showing flow and bootstrap current modification in a pedestal

In transport barriers, particularly H-mode edge pedestals, radial scale lengths can become comparable to the ion orbit width, causing neoclassical physics to become radially nonlocal. In this work, the resulting changes to neoclassical flow and current are examined both analytically and numerically. Steep density gradients are considered, with scale lengths comparable to the poloidal ion gyroradius, together with strong radial electric fields sufficient to electrostatically confine the ions. Attention is restricted to relatively weak ion temperature gradients (but permitting arbitrary electron temperature gradients), since in this limit a delta-f (small departures from a Maxwellian distribution) rather than full-f approach is justified. This assumption is in fact consistent with measured inter-ELM H-Mode edge pedestal density and ion temperature profiles in many present experiments, and is expected to be increasingly valid in future lower collisionality experiments. In the numerical analysis, the distribution function and Rosenbluth potentials are solved for simultaneously, allowing use of the exact field term in the linearized Fokker-Planck collision operator. In the pedestal, the parallel and poloidal flows are found to deviate strongly from the best available conventional neoclassical prediction, with large poloidal variation of a different form than in the local theory. These predicted effects may be observable experimentally. In the local limit, the Sauter bootstrap current formulae appear accurate at low collisionality, but they can overestimate the bootstrap current near the plateau regime. In the pedestal ordering, ion contributions to the bootstrap and Pfirsch-Schluter currents are also modified

A drift-kinetic Semi-Lagrangian 4D code for ion turbulence simulation

A new code is presented here, named Gyrokinetic SEmi-LAgragian (GYSELA) code, which solves 4D drift-kinetic equations for ion temperature gradient driven turbulence in a cylinder (r, theta, z). The code validation is performed with the slab ITG mode that only depends on the parallel velocity. This code uses a semi-Lagrangian numerical scheme, which exhibits good properties of energy conservation in non-linear regime as well as an accurate description of fine spatial scales. The code has been validated in the linear and non-linear regimes. The GYSELA code is found to be stable over long simulation times (more than 20 times the linear growth rate of the most unstable mode), including for cases with a high resolution mesh (delta r similar to 0.1 Larmor radius, delta z similar to 10 Larmor radius). (c) 2006 Elsevier Inc. All rights reserved

Ion radial transport induced by ICRF waves in tokamaks

The wave-induced fluxes of energetic-trapped ions during ICRF heating of tokamak plasmas are calculated using quasilinear equations. A simple single particle model of this transport mechanism is also given. Both a convective flux proportional to k/sub phi/vertical bar E/sub +/vertical bar/sup 2/ and a diffusive flux proportional to k/sub phi//sup 2/vertical bar E/sub +/vertical bar/sup 2/ are found. Here, k/sub phi/ is the toroidal wave number and E/sub +/ is the left-hand polarized wave field. The convective flux may become significant for large k/sub phi/ if the wave spectrum is asymmetric in k/sub phi/. But for the conditions of most previous experiments, these calculations indicate that radial transport driven directly by the ICRF wave is unimportant

On-Orbit Performance of the Far Ultraviolet Spectroscopic Explorer (FUSE) Satellite

Launch of the Far Ultraviolet Spectroscopic Explorer (FUSE) has been followed by an extensive period of calibration and characterization as part of the preparation for normal satellite operations. Major tasks carried out during this period include initial coalignment, focusing and characterization of the four instrument channels, and a preliminary measurement of the resolution and throughput performance of the instrument. We describe the results from this test program, and present preliminary estimates of the on-orbit performance of the FUSE satellite based on a combination of this data and prelaunch laboratory measurements.Comment: 8 pages, including 3 figures. This paper will appear in the FUSE special issue of ApJ Letter

Morphologic and Kinematic Characteristics of Elite Sprinters

The purpose of the study was to ascertain the basic morphologic and kinematic characteristics of elite sprinters. The sample included 24 sprinters, with times over a 100 m distance between 10.21 s and 11.19 s. Morphologic characteristics of the sprinters were measured with a test battery of 17 measures, obtained according to the methodology prescribed by the International Biologic Programme (IBP). The kinematic variables were obtained from a flying start 20 m run and a 20 m run with a low start, with the technology of a contact carpet (ERGO TESTER – Bosco). Stride frequency and length, duration of contact and flight phases were registered. Time parameters were measured with a system of infrared photocells (BROWER Timing System). T-test showed that elite sprinters do not differ significantly in morphologic characteristics (p > 0.05) from the 100 m results point of view. However, statistically significant differences were obtained in starting acceleration and maximal velocity. The most important kinematic parameters for generating differences between the elite sprinters are contact time and stride frequency

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs is challenging since >280 genes are associated with these conditions. While whole exome sequencing (WES) is commonly used by diagnostic facilities, the costs and required infrastructure prevent its global applicability. Previous studies have shown the cost-effectiveness of sequence analysis using single molecule Molecular Inversion Probes (smMIPs) in a cohort of patients diagnosed with Stargardt disease and other maculopathies. Methods: Here, we introduce a smMIPs panel that targets the exons and splice sites of all currently known genes associated with RP and LCA, the entire RPE65 gene, known causative deep-intronic variants leading to pseudo-exons, and part of the RP17 region associated with autosomal dominant RP, by using a total of 16,812 smMIPs. The RP-LCA smMIPs panel was used to screen 1,192 probands from an international cohort of predominantly RP and LCA cases. Results and discussion: After genetic analysis, a diagnostic yield of 56% was obtained which is on par with results from WES analysis. The effectiveness and the reduced costs compared to WES renders the RP-LCA smMIPs panel a competitive approach to provide IRD patients with a genetic diagnosis, especially in countries with restricted access to genetic testing.This study received funding from Novartis. The funder was not involved in the study design, collection, analysis, interpretation of data, the writing of this article or the decision to submit it for publication. This work was supported by grants from Foundation Fighting Blindness Career Development Award CDGE-0621-0809-RAD (SR), Foundation Fighting Blindness project program award PPA-0123-0841-UCL (SR and SdB), Retinitis Pigmentosa Fighting Blindness, Fight for Sight UK (RP Genome Project GR586), Ghent University Special Research Fund (BOF20/GOA/023) (EDB and BL); EJP RD Solve-RET EJPRD19-234 (EDB, BL, SB, CR, FC, and SR). EDB (1802220N) and BL (1803816N) are FWO Senior Clinical Investigators of the Research Foundation Flanders (FWO). EDB, BL, SB, FC, and SR are members of ERN-EYE (Framework Partnership Agreement No. 739534)

A Metabolomic Approach to the Study of Wine Micro-Oxygenation

Wine micro-oxygenation is a globally used treatment and its effects were studied here by analysing by untargeted LC-MS the wine metabolomic fingerprint. Eight different procedural variations, marked by the addition of oxygen (four levels) and iron (two levels) were applied to Sangiovese wine, before and after malolactic fermentation