Magnetic field effects on liquid metal free convection

International audienceWe provide a numerical analysis of three-dimensional free convection of a liquid in a Rayleigh-Bénard configuration,subject to a steady and uniform magnetic field, using the finite volume code Jadim. The influence of the Hartmann andRayleigh numbers are studied. We compare our results to several experimental works. As suggested by previousexperiments, the magnetic field tends to lower the heat transfer at the walls. This is caused by a significant alteration ofthe flow structures, due to the Lorentz force. For slightly overcritical Rayleigh numbers, two-dimensional rolls appearbut the flow structure rapidly becomes three-dimensional as we increase the Rayleigh number. The magnetic field tendsto destroy those structures and the transition to a 3D flow is delayed to higher values of the Rayleigh number, when theHartmann number is increased. We show that the averaged heat transfer at the walls decreases, although it remains ofthe same order of magnitude. However the local structure of heat transfer is altered

Lack of replication of genetic associations with human longevity

The exceptional longevity of centenarians is due in part to inherited genetic factors, as deduced from data that show that first degree relatives of centenarians live longer and have reduced overall mortality. In recent years, a number of groups have performed genetic association studies on long-living individuals (LLI) and young controls to identify alleles that are either positively or negatively selected in the centenarian population as consequence of a demographic pressure. Many of the reported studies have shown genetic loci associated with longevity. Of these, with the exception of APOE, none have been convincingly reproduced. We validated our populations by typing the APOE locus. In addition, we used 749 American Caucasian LLI, organized in two independent tiers and 355 American Caucasian controls in the attempt to replicate previously published findings. We tested Klotho (KL)-VS variant (rs952706), Cholesteryl Ester Transfer Protein (CETP) I405V (rs5882), Paraoxonase 1 (PON1) Q192R (rs662), Apolipoprotein C-III (APOC3) -641C/A (rs2542052), Microsomal Transfer Protein (MTP) -493G/T (rs2866164) and apolipoprotein E (APOE) epsilon2 and epsilon4 isoforms, (rs7412 and rs429358) haplotypes respectively. Our results show that, at present, except for APOE, none of the selected genes show association with longevity if carefully tested in a large cohort of LLI and their controls, pointing to the need of larger populations for case-control studies in extreme longevity

Starspots on the fastest rotators in the Beta Pic moving group

Aims: We carried out high-resolution spectroscopy and BV(I)_C photometric monitoring of the two fastest late-type rotators in the nearby Beta Pictoris moving group, HD199143 (F7V) and CD-641208 (K7V). The motivation for this work is to investigate the rotation periods and photospheric spot patterns of these very young stars, with a longer term view to probing the evolution of rotation and magnetic activity during the early phases of main-sequence evolution. We also aim to derive information on key physical parameters, such as rotational velocity and rotation period. Methods: We applied maximum entropy (ME) and Tikhonov regularizing (TR) criteria to derive the surface spot map distributions of the optical modulation observed in HD199143 (F7 V) and CD-641208 (K7V). We also used cross-correlation techniques to determine stellar parameters such as radial velocities and rotational velocities. Lomb-Scargle periodograms were used to obtain the rotational periods from differential magnitude time series. Results: We find periods and inclinations of 0.356 days and 21.5deg for HD199143, and 0.355 days and 50.1deg for CD-641208. The spot maps of HD199143 obtained from the ME and TR methods are very similar, although the latter gives a smoother distribution of the filling factor. Maps obtained at two different epochs three weeks apart show a remarkable increase in spot coverage amounting to ~7% of the surface of the photosphere over a time period of only ~20 days. The spot maps of CD-641208 from the two methods show good longitudinal agreement, whereas the latitude range of the spots is extended to cover the whole visible hemisphere in the TR map. The distributions obtained from the first light curve of HD199143 show the presence of an extended and asymmetric active longitude with the maximum filling factor at longitude ~325degree.Comment: Accepted by A&A. 13 pages, 13 figures (4 online included), 5 Table

Mirror system of the RICH detector of the NA62 experiment

A large RICH detector is used in NA62 to suppress the muon contamination in the charged pion selection by a factor 100 in the momentum range between 15 and 35 GeV/c. The detector consists of a 17 m long tank (vessel), filled with neon gas at atmospheric pressure. Cherenkov light is reflected by a mosaic of 20 spherical mirrors with 17 m focal length, placed at the downstream end, and collected by 1952 photomultipliers (PMTs) placed at the upstream end. In this paper the characterization of the mirrors before installation and the mirror support system are described. The mirror installation procedure and the laser alignment are also illustrated

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield of patients with rare diseases. However, the cost and efforts required for reanalysis prevent its routine implementation in research and clinical environments. The Solve-RD project aims to reveal the molecular causes underlying undiagnosed rare diseases. One of the goals is to implement innovative approaches to reanalyse the exomes and genomes from thousands of well-studied undiagnosed cases. The raw genomic data is submitted to Solve-RD through the RD-Connect Genome-Phenome Analysis Platform (GPAP) together with standardised phenotypic and pedigree data. We have developed a programmatic workflow to reanalyse genome-phenome data. It uses the RD-Connect GPAP’s Application Programming Interface (API) and relies on the big-data technologies upon which the system is built. We have applied the workflow to prioritise rare known pathogenic variants from 4411 undiagnosed cases. The queries returned an average of 1.45 variants per case, which first were evaluated in bulk by a panel of disease experts and afterwards specifically by the submitter of each case. A total of 120 index cases (21.2% of prioritised cases, 2.7% of all exome/genome-negative samples) have already been solved, with others being under investigation. The implementation of solutions as the one described here provide the technical framework to enable periodic case-level data re-evaluation in clinical settings, as recommended by the American College of Medical Genetics

Performance of the CMS Cathode Strip Chambers with Cosmic Rays

The Cathode Strip Chambers (CSCs) constitute the primary muon tracking device in the CMS endcaps. Their performance has been evaluated using data taken during a cosmic ray run in fall 2008. Measured noise levels are low, with the number of noisy channels well below 1%. Coordinate resolution was measured for all types of chambers, and fall in the range 47 microns to 243 microns. The efficiencies for local charged track triggers, for hit and for segments reconstruction were measured, and are above 99%. The timing resolution per layer is approximately 5 ns

Performance and Operation of the CMS Electromagnetic Calorimeter

The operation and general performance of the CMS electromagnetic calorimeter using cosmic-ray muons are described. These muons were recorded after the closure of the CMS detector in late 2008. The calorimeter is made of lead tungstate crystals and the overall status of the 75848 channels corresponding to the barrel and endcap detectors is reported. The stability of crucial operational parameters, such as high voltage, temperature and electronic noise, is summarised and the performance of the light monitoring system is presented

Role of MicroRNA Profile Modifications in Hepatitis C Virus-Related Mixed Cryoglobulinemia

Hepatitis C virus infection is closely related to lymphoproliferative disorders (LPDs), including mixed cryoglobulinemia (MC) and some lymphomas. Modification of the expression of specific microRNAs (miRNAs) has been associated with different autoimmune diseases and/or LPDs. No data exist about the modifications in miRNA expression in HCV-associated LPDs. The aim of this study was to analyze the expression levels of a panel of miRNAs previously associated with autoimmune/LPDs in a large population of HCV patients with and without MC or non-Hodgkin’s lymphoma (NHL), to identify potential markers of evolution of HCV infection. PBMC expression of miR-Let-7d, miR-16, miR-21, miR-26b, miR-146a and miR-155 was evaluated by real-time PCR in 167 HCV patients (75 with MC [MC-HCV], 11 with HCV-associated NHL [NHL-HCV], 81 without LPD [HCV]) and in 35 healthy subjects (HS). A significant increase in miR-21 (p<0.001), miR-16 (p<0.01) and miR-155 (p<0.01) expression was detected in PBMCs from only NHL patients whereas a significant decrease in miR-26b was detected in both MC and NHL subjects (p<0.01) when compared to HS and HCV groups. A restoration of miR-26b levels was observed in the post-treatment PBMCs of 35 HCV-MC patients experiencing complete virological and clinical response following antiviral therapy. This study, for the first time, shows that specific microRNAs in PBMC from HCV patients who developed MC and/or NHL are modulated differently. The specific, reversible downregulation of miR-26b strongly suggests the key role it plays in the pathogenesis of HCV-related LPDs and its usefulness as a biomarker of the evolution of HCV infection to these disorders

Worsening of Cardiomyopathy Using Deflazacort in an Animal Model Rescued by Gene Therapy

We have previously demonstrated that gene therapy can rescue the phenotype and extend lifespan in the delta-sarcoglycan deficient cardiomyopathic hamster. In patients with similar genetic defects, steroids have been largely used to slow down disease progression. Aim of our study was to evaluate the combined effects of steroid treatment and gene therapy on cardiac function. We injected the human delta-sarcoglycan cDNA by adeno-associated virus (AAV) 2/8 by a single intraperitoneal injection into BIO14.6 Syrian hamsters at ten days of age to rescue the phenotype. We then treated the hamsters with deflazacort. Treatment was administered to half of the hamsters that had received the AAV and the other hamsters without AAV, as well as to normal hamsters. Both horizontal and vertical activities were greatly enhanced by deflazacort in all groups. As in previous experiments, the AAV treatment alone was able to preserve the ejection fraction (70±7% EF). However, the EF value declined (52±14%) with a combination of AAV and deflazacort. This was similar with all the other groups of affected animals. We confirm that gene therapy improves cardiac function in the BIO14.6 hamsters. Our results suggest that deflazacort is ineffective and may also have a negative impact on the cardiomyopathy rescue, possibly by boosting motor activity. This is unexpected and may have significance in terms of the lifestyle recommendations for patients

The RICH detector of the NA62 experiment at CERN

The NA62 experiment at CERN aims to measure the branching ratio of the ultra-rare charged kaon decay K+→π+νν¯ with a 10% accuracy and with a background contamination at the 10% level. Since the branching ratio of this decay is O (10 −10 ), to fulfill such request one of the main backgrounds, the decay K+→μ+ν (BR ~63% ), must be suppressed by a rejection factor of 4×10 −13 (assuming 10% signal acceptance). This can be partially accomplished using a combination of kinematical cuts (8×10 −6 ) and the different power of penetration through matter of pions and muons (10 −5 ). A further 5×10 −3 suppression factor will be provided by a RICH detector, in a momentum range between 15 and 35 GeV/c. The details of the RICH project as well as the results from test runs performed on a RICH prototype of the same length of the final detector will be presented. The current status of the construction and the description of the final readout and trigger electronics will also be reviewed