Frequency of 22q11 deletions in patients with conotruncal defects

AbstractObjectives. This study was designed to determine the frequency of 22q11 deletions in a large, prospectively ascertained sample of patients with conotruncal defects and to evaluate the deletion frequency when additional cardiac findings are also considered.Background. Chromosome 22q11 deletions are present in the majority of patients with DiGeorge, velocardiofacial and conotruncal anomaly face syndromes in which conotruncal defects are a cardinal feature. Previous studies suggest that a substantial number of patients with congenital heart disease have a 22q11 deletion.Methods. Two hundred fifty-one patients with conotruncal defects were prospectively enrolled into the study and screened for the presence of a 22q11 deletion.Results. Deletions were found in 50.0% with interrupted aortic arch (IAA), 34.5% of patients with truncus arteriosus (TA), and 15.9% with tetralogy of Fallot (TOF). Two of 6 patients with a posterior malalignment type ventricular septal defect (PMVSD) and only 1 of 20 patients with double outlet right ventricle were found to have a 22q11 deletion. None of the 45 patients with transposition of the great arteries had a deletion. The frequency of 22q11 deletions was higher in patients with anomalies of the pulmonary arteries, aortic arch or its major branches as compared to patients with a normal left aortic arch regardless of intracardiac anatomy.Conclusions. A substantial proportion of patients with IAA, TA, TOF and PMVSD have a deletion of chromosome 22q11. Deletions are more common in patients with aortic arch or vessel anomalies. These results begin to define guidelines for deletion screening of patients with conotruncal defects

The ALMA detection of CO rotational line emission in AGB stars in the Large Magellanic Cloud

Context. Low- and intermediate-mass stars lose most of their stellar mass at the end of their lives on the asymptotic giant branch (AGB). Determining gas and dust mass-loss rates (MLRs) is important in quantifying the contribution of evolved stars to the enrichment of the interstellar medium. Aims: This study attempts to spectrally resolve CO thermal line emission in a small sample of AGB stars in the Large Magellanic Cloud (LMC). Methods: The Atacama Large Millimeter Array was used to observe two OH/IR stars and four carbon stars in the LMC in the CO J = 2-1 line. Results: We present the first measurement of expansion velocities in extragalactic carbon stars. All four C stars are detected and wind expansion velocities and stellar velocities are directly measured. Mass-loss rates are derived from modelling the spectral energy distribution and Spitzer/IRS spectrum with the DUSTY code. The derived gas-to-dust ratios allow the predicted velocities to agree with the observed gas-to-dust ratios. The expansion velocities and MLRs are compared to a Galactic sample of well-studied relatively low MLRs stars supplemented with extreme C stars with properties that are more similar to the LMC targets. Gas MLRs derived from a simple formula are significantly smaller than those derived from dust modelling, indicating an order of magnitude underestimate of the estimated CO abundance, time-variable mass loss, or that the CO intensities in LMC stars are lower than predicted by the formula derived for Galactic objects. This could be related to a stronger interstellar radiation field in the LMC. Conclusions: Although the LMC sample is small and the comparison to Galactic stars is non-trivial because of uncertainties in their distances (hence luminosities), it appears that for C stars the wind expansion velocities in the LMC are lower than in the solar neighbourhood, while the MLRs appear to be similar. This is in agreement with dynamical dust-driven wind models

Thermodynamics of SU(3) gauge theory on anisotropic lattices

Finite temperature SU(3) gauge theory is studied on anisotropic lattices using the standard plaquette gauge action. The equation of state is calculated on $16^{3} \times 8$, $20^{3} \times 10$ and $24^{3} \times 12$ lattices with the anisotropy $\xi \equiv a_s / a_t = 2$, where $a_s$ and $a_t$ are the spatial and temporal lattice spacings. Unlike the case of the isotropic lattice on which $N_t=4$ data deviate significantly from the leading scaling behavior, the pressure and energy density on an anisotropic lattice are found to satisfy well the leading $1/N_t^2$ scaling from our coarsest lattice, $N_t/\xi=4$. With three data points at $N_t/\xi=4$, 5 and 6, we perform a well controlled continuum extrapolation of the equation of state. Our results in the continuum limit agree with a previous result from isotropic lattices using the same action, but have smaller and more reliable errors.Comment: RevTeX, 21 pages, 17 PS figures. A quantitative test about the benefit of anisotropic lattices added, minor errors corrected. Final version for PR

MRI characteristics are predictive for CDMS in monofocal, but not in multifocal patients with a clinically isolated syndrome

BACKGROUND: To diagnose multiple sclerosis (MS), evidence for dissemination in space and time is required. There is no clear definition on how symptoms and signs of a patient indicate clinical dissemination in space. To provide a uniform approach on this subject, a clinical classification system was described recently differentiating patients with mono- and multifocal clinical presentation. Here we assess the predictive value of clinically defined dissemination in space at first presentation for time to clinically definite MS (CDMS). METHODS: Four hundred and sixty-eight patients with a first episode suggestive of MS were classified as clinically mono- or multifocal by two neurologists blinded to magnetic resonance imaging (MRI) results. These patients were part of the BENEFIT study in which 292 patients were randomized to interferon beta-1b (IFNB-1b) and 176 to placebo. By using Kaplan-Meier statistics the risk for CDMS was studied in mono- and multifocal patients of the placebo group, both with and without taking into account MRI measures of potential prognostic relevance. RESULTS: Time to CDMS was similar in monofocal and multifocal patients. In monofocal patients, the risk for CDMS over 2 years was significantly higher when <or= 9 T2 lesions or at least one Gd-enhancing lesion were present at the first event or 3 or 6 months after the first event. In patients with multifocal presentation, these MRI measures had no significant added value in predicting time to CDMS. CONCLUSION: These data indicate that a carefully performed neurological assessment of symptoms and signs, combined with lesions on MRI, is important for defining the risk of conversion to CDMS. TRIAL REGISTRATION: The Benefit trial has been registered under NCT00185211 http://www.clinicaltrials.gov

Review of Issues Associated with Safe Operation and Management of the Space Shuttle Program

At the request of the President of the United States through the Office of Science and Technology Policy (OSTP), the NASA Administrator tasked the Aerospace Safety Advisory Panel with the responsibility to identify and review issues associated with the safe operation and management of the Space Shuttle program arising from ongoing efforts to improve and streamline operations. These efforts include the consolidation of operations under a single Space Flight Operations Contract (SFOC), downsizing the Space Shuttle workforce and reducing costs of operations and management. The Panel formed five teams to address the potentially significant safety impacts of the seven specific topic areas listed in the study Terms of Reference. These areas were (in the order in which they are presented in this report): Maintenance of independent safety oversight; implementation plan for the transition of Shuttle program management to the Lead Center; communications among NASA Centers and Headquarters; transition plan for downsizing to anticipated workforce levels; implementation of a phased transition to a prime contractor for operations; Shuttle flight rate for Space Station assembly; and planned safety and performance upgrades for Space Station assembly. The study teams collected information through briefings, interviews, telephone conversations and from reviewing applicable documentation. These inputs were distilled by each team into observations and recommendations which were then reviewed by the entire Panel

JWST observations of the Ring Nebula (NGC 6720): I. Imaging of the rings, globules, and arcs

We present JWST images of the well-known planetary nebula NGC 6720 (the Ring Nebula), covering wavelengths from 1.6$\mu$m to 25 $\mu$m. The bright shell is strongly fragmented with some 20 000 dense globules, bright in H$_2$, with a characteristic diameter of 0.2 arcsec and density $n_{\rm H} \sim 10^5$-$10^6$ cm$^{-3}$. The shell contains a thin ring of polycyclic aromatic hydrocarbon (PAH) emission. H$_2$ is found throughout the shell and in the halo. H$_2$ in the halo may be located on the swept-up walls of a biconal polar flow. The central cavity is shown to be filled with high ionization gas and shows two linear structures. The central star is located 2 arcsec from the emission centroid of the cavity and shell. Linear features (`spikes') extend outward from the ring, pointing away from the central star. Hydrodynamical simulations are shown which reproduce the clumping and possibly the spikes. Around ten low-contrast, regularly spaced concentric arc-like features are present; they suggest orbital modulation by a low-mass companion with a period of about 280 yr. A previously known much wider companion is located at a projected separation of about 15 000 au; we show that it is an M2-M4 dwarf. The system is therefore a triple star. These features, including the multiplicity, are similar to those seen in the Southern Ring Nebula (NGC 3132) and may be a common aspect of such nebulae.Comment: 25 pages, 23 figures. Submitted to Monthly Notices of the Royal Astronomical Society. Corrected typos in metadat

Measurement of the B0-anti-B0-Oscillation Frequency with Inclusive Dilepton Events

The $B^0$-$\bar B^0$ oscillation frequency has been measured with a sample of 23 million \B\bar B pairs collected with the BABAR detector at the PEP-II asymmetric B Factory at SLAC. In this sample, we select events in which both B mesons decay semileptonically and use the charge of the leptons to identify the flavor of each B meson. A simultaneous fit to the decay time difference distributions for opposite- and same-sign dilepton events gives $\Delta m_d = 0.493 \pm 0.012{(stat)}\pm 0.009{(syst)}$ ps$^{-1}$.Comment: 7 pages, 1 figure, submitted to Physical Review Letter

Measurement of D-s(+) and D-s(*+) production in B meson decays and from continuum e(+)e(-) annihilation at √s=10.6 GeV

This is the pre-print version of the Article. The official published version can be accessed from the links below. Copyright @ 2002 APSNew measurements of Ds+ and Ds*+ meson production rates from B decays and from qq̅ continuum events near the Υ(4S) resonance are presented. Using 20.8 fb-1 of data on the Υ(4S) resonance and 2.6 fb-1 off-resonance, we find the inclusive branching fractions B(B⃗Ds+X)=(10.93±0.19±0.58±2.73)% and B(B⃗Ds*+X)=(7.9±0.8±0.7±2.0)%, where the first error is statistical, the second is systematic, and the third is due to the Ds+→φπ+ branching fraction uncertainty. The production cross sections σ(e+e-→Ds+X)×B(Ds+→φπ+)=7.55±0.20±0.34pb and σ(e+e-→Ds*±X)×B(Ds+→φπ+)=5.8±0.7±0.5pb are measured at center-of-mass energies about 40 MeV below the Υ(4S) mass. The branching fractions ΣB(B⃗Ds(*)+D(*))=(5.07±0.14±0.30±1.27)% and ΣB(B⃗Ds*+D(*))=(4.1±0.2±0.4±1.0)% are determined from the Ds(*)+ momentum spectra. The mass difference m(Ds+)-m(D+)=98.4±0.1±0.3MeV/c2 is also measured.This work was supported by DOE and NSF (USA), NSERC (Canada), IHEP (China), CEA and CNRS-IN2P3 (France), BMBF (Germany), INFN (Italy), NFR (Norway), MIST (Russia), and PPARC (United Kingdom). Individuals have received support from the Swiss NSF, A. P. Sloan Foundation, Research Corporation, and Alexander von Humboldt Foundation

Measurement of the cross-section and charge asymmetry of WW bosons produced in proton-proton collisions at s=8\sqrt{s}=8 TeV with the ATLAS detector

This paper presents measurements of the $W^+ \rightarrow \mu^+\nu$ and $W^- \rightarrow \mu^-\nu$ cross-sections and the associated charge asymmetry as a function of the absolute pseudorapidity of the decay muon. The data were collected in proton--proton collisions at a centre-of-mass energy of 8 TeV with the ATLAS experiment at the LHC and correspond to a total integrated luminosity of 20.2~\mbox{fb^{-1}}. The precision of the cross-section measurements varies between 0.8% to 1.5% as a function of the pseudorapidity, excluding the 1.9% uncertainty on the integrated luminosity. The charge asymmetry is measured with an uncertainty between 0.002 and 0.003. The results are compared with predictions based on next-to-next-to-leading-order calculations with various parton distribution functions and have the sensitivity to discriminate between them.Comment: 38 pages in total, author list starting page 22, 5 figures, 4 tables, submitted to EPJC. All figures including auxiliary figures are available at https://atlas.web.cern.ch/Atlas/GROUPS/PHYSICS/PAPERS/STDM-2017-13

Search for chargino-neutralino production with mass splittings near the electroweak scale in three-lepton final states in √s=13 TeV pp collisions with the ATLAS detector

A search for supersymmetry through the pair production of electroweakinos with mass splittings near the electroweak scale and decaying via on-shell W and Z bosons is presented for a three-lepton final state. The analyzed proton-proton collision data taken at a center-of-mass energy of √s=13  TeV were collected between 2015 and 2018 by the ATLAS experiment at the Large Hadron Collider, corresponding to an integrated luminosity of 139  fb−1. A search, emulating the recursive jigsaw reconstruction technique with easily reproducible laboratory-frame variables, is performed. The two excesses observed in the 2015–2016 data recursive jigsaw analysis in the low-mass three-lepton phase space are reproduced. Results with the full data set are in agreement with the Standard Model expectations. They are interpreted to set exclusion limits at the 95% confidence level on simplified models of chargino-neutralino pair production for masses up to 345 GeV