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Showing papers by "University of Cagliari published in 2013"


Journal ArticleDOI
TL;DR: In addition to the APOE locus (encoding apolipoprotein E), 19 loci reached genome-wide significance (P < 5 × 10−8) in the combined stage 1 and stage 2 analysis, of which 11 are newly associated with Alzheimer's disease.
Abstract: Eleven susceptibility loci for late-onset Alzheimer's disease (LOAD) were identified by previous studies; however, a large portion of the genetic risk for this disease remains unexplained. We conducted a large, two-stage meta-analysis of genome-wide association studies (GWAS) in individuals of European ancestry. In stage 1, we used genotyped and imputed data (7,055,881 SNPs) to perform meta-analysis on 4 previously published GWAS data sets consisting of 17,008 Alzheimer's disease cases and 37,154 controls. In stage 2, 11,632 SNPs were genotyped and tested for association in an independent set of 8,572 Alzheimer's disease cases and 11,312 controls. In addition to the APOE locus (encoding apolipoprotein E), 19 loci reached genome-wide significance (P < 5 × 10−8) in the combined stage 1 and stage 2 analysis, of which 11 are newly associated with Alzheimer's disease.

3,726 citations


Book ChapterDOI
23 Sep 2013
TL;DR: This work presents a simple but effective gradient-based approach that can be exploited to systematically assess the security of several, widely-used classification algorithms against evasion attacks.
Abstract: In security-sensitive applications, the success of machine learning depends on a thorough vetting of their resistance to adversarial data. In one pertinent, well-motivated attack scenario, an adversary may attempt to evade a deployed system at test time by carefully manipulating attack samples. In this work, we present a simple but effective gradient-based approach that can be exploited to systematically assess the security of several, widely-used classification algorithms against evasion attacks. Following a recently proposed framework for security evaluation, we simulate attack scenarios that exhibit different risk levels for the classifier by increasing the attacker's knowledge of the system and her ability to manipulate attack samples. This gives the classifier designer a better picture of the classifier performance under evasion attacks, and allows him to perform a more informed model selection (or parameter setting). We evaluate our approach on the relevant security task of malware detection in PDF files, and show that such systems can be easily evaded. We also sketch some countermeasures suggested by our analysis.

1,667 citations


Journal ArticleDOI
TL;DR: ATRA plus arsenic trioxide is at least not inferior and may be superior to ATRA plus chemotherapy in the treatment of patients with low-to-intermediate-risk APL.
Abstract: Background All-trans retinoic acid (ATRA) with chemotherapy is the standard of care for acute promyelocytic leukemia (APL), resulting in cure rates exceeding 80%. Pilot studies of treatment with arsenic trioxide with or without ATRA have shown high efficacy and reduced hematologic toxicity. Methods

1,184 citations


Journal ArticleDOI
05 Jul 2013-Science
TL;DR: The detection of four nonrepeating radio transient events with millisecond duration in data from the 64-meter Parkes radio telescope in Australia indicates that these radio bursts had their origin outside the authors' galaxy, but it is not possible to tell what caused them.
Abstract: Searches for transient astrophysical sources often reveal unexpected classes of objects that are useful physical laboratories. In a recent survey for pulsars and fast transients, we have uncovered four millisecond-duration radio transients all more than 40° from the Galactic plane. The bursts' properties indicate that they are of celestial rather than terrestrial origin. Host galaxy and intergalactic medium models suggest that they have cosmological redshifts of 0.5 to 1 and distances of up to 3 gigaparsecs. No temporally coincident x- or gamma-ray signature was identified in association with the bursts. Characterization of the source population and identification of host galaxies offers an opportunity to determine the baryonic content of the universe.

1,093 citations


Journal ArticleDOI
TL;DR: The aim of this review article is to provide a comprehensive overview of advances achieved in the field of atomistic processes, phase transformations, simple and multicomponent nanosystems and peculiarities of mechanochemistry.
Abstract: The aim of this review article on recent developments of mechanochemistry (nowadays established as a part of chemistry) is to provide a comprehensive overview of advances achieved in the field of atomistic processes, phase transformations, simple and multicomponent nanosystems and peculiarities of mechanochemical reactions. Industrial aspects with successful penetration into fields like materials engineering, heterogeneous catalysis and extractive metallurgy are also reviewed. The hallmarks of mechanochemistry include influencing reactivity of solids by the presence of solid-state defects, interphases and relaxation phenomena, enabling processes to take place under non-equilibrium conditions, creating a well-crystallized core of nanoparticles with disordered near-surface shell regions and performing simple dry time-convenient one-step syntheses. Underlying these hallmarks are technological consequences like preparing new nanomaterials with the desired properties or producing these materials in a reproducible way with high yield and under simple and easy operating conditions. The last but not least hallmark is enabling work under environmentally friendly and essentially waste-free conditions (822 references).

908 citations


Journal ArticleDOI
Betty Abelev1, Jaroslav Adam2, Dagmar Adamová3, Andrew Marshall Adare4  +1002 moreInstitutions (89)
04 Mar 2013
TL;DR: In this paper, the authors measured the transverse-momentum (p(T)) distributions and yields of pi, K, and p in Pb-Pb collisions at root s(NN) = 2.76 TeV.
Abstract: In this paper measurements are presented of pi(+/-), K-+/-, p, and (p) over bar production at midrapidity (vertical bar y vertical bar < 0.5), in Pb-Pb collisions at root s(NN) = 2.76 TeV as a function of centrality. The measurement covers the transverse-momentum (p(T)) range from 100, 200, and 300 MeV/c up to 3, 3, and 4.6 GeV/c for pi, K, and p, respectively. The measured p(T) distributions and yields are compared to expectations based on hydrodynamic, thermal and recombination models. The spectral shapes of central collisions show a stronger radial flow than measured at lower energies, which can be described in hydrodynamic models. In peripheral collisions, the p(T) distributions are not well reproduced by hydrodynamic models. Ratios of integrated particle yields are found to be nearly independent of centrality. The yield of protons normalized to pions is a factor similar to 1.5 lower than the expectation from thermal models.

485 citations


Journal ArticleDOI
26 Sep 2013-Nature
TL;DR: Observations of accretion-powered, millisecond X-ray pulsations from a neutron star previously seen as a rotation- powered radio pulsar show the evolutionary link between accretion and rotation-powered millisecond pulsars, but also that some systems can swing between the two states on very short timescales.
Abstract: We present the discovery of IGR J18245-2452, the first millisecond pulsar ob- served to swing between a rotation-powered, radio pulsar state, and an accretion-powered X-ray pulsar state (31). This transitional source represents the most convincing proof of the evolutionary link shared by accreting neutron stars in low mass X-ray binaries, and ra- dio millisecond pulsars. It demonstrates that swings between these two states take place on the same time-scales of luminosity variations of X-ray transients, and are therefore most easily interpreted in terms of changes in the rate of mass in-flow. While accreting mass, the X-ray emission of IGR J18245-2452 varies dramatically on time-scales ranging from a second to a few hours. We interpret a state characterised by a lower flux and pulsed fraction, and by sudden increases of the hardness of the X-ray emission, in terms of the onset of a magnetospheric centrifugal inhibition of the accretion flow. Prospects of finding new members of the newly established class of transitional pulsars are also briefly discussed.

466 citations


Journal ArticleDOI
Mirko Manchia1, Mazda Adli2, Nirmala Akula3, Raffaella Ardau, Jean-Michel Aubry4, Lena Backlund5, Claudio E. M. Banzato6, Bernhard T. Baune7, Frank Bellivier8, Susanne Bengesser9, Joanna M. Biernacka10, Clara Brichant-Petitjean8, Elise Bui3, Cynthia V. Calkin1, Andrew T. A. Cheng11, Caterina Chillotti, Sven Cichon12, Scott R. Clark7, Piotr M. Czerski, Clarissa de Rosalmeida Dantas6, Maria Del Zompo13, J. Raymond DePaulo14, Sevilla D. Detera-Wadleigh3, Bruno Etain15, Peter Falkai16, Louise Frisén5, Mark A. Frye10, Janice M. Fullerton17, Sébastien Gard, Julie Garnham1, Fernando S. Goes14, Paul Grof18, Oliver Gruber19, Ryota Hashimoto20, Joanna Hauser, Urs Heilbronner19, Rebecca Hoban21, Rebecca Hoban22, Liping Hou3, Stéphane Jamain15, Jean-Pierre Kahn, Layla Kassem3, Tadafumi Kato, John R. Kelsoe22, John R. Kelsoe21, Sarah Kittel-Schneider23, Sebastian Kliwicki, Po-Hsiu Kuo24, Ichiro Kusumi25, Gonzalo Laje3, Catharina Lavebratt5, Marion Leboyer15, Susan G. Leckband22, Susan G. Leckband21, Carlos Jaramillo26, Mario Maj27, Alain Malafosse4, Lina Martinsson5, Takuya Masui25, Philip B. Mitchell28, Frank Mondimore14, Palmiero Monteleone27, Audrey Nallet4, Maria Neuner23, Tomas Novak3, Claire O'Donovan1, Urban Ösby5, Norio Ozaki29, Norio Ozaki30, Roy H. Perlis31, Andrea Pfennig32, James B. Potash33, James B. Potash14, Daniela Reich-Erkelenz19, Andreas Reif23, Eva Z. Reininghaus9, Sara Richardson3, Guy A. Rouleau34, Janusz K. Rybakowski, Martin Schalling5, Peter R. Schofield17, O. Schubert7, Barbara W. Schweizer14, Florian Seemüller16, Maria Grigoroiu-Serbanescu, Giovanni Severino13, Lisa R. Seymour10, Claire Slaney1, Jordan W. Smoller31, Alessio Squassina13, Thomas Stamm2, Jo Steele3, Pavla Stopkova3, Sarah K. Tighe14, Alfonso Tortorella27, Gustavo Turecki, Naomi R. Wray35, Adam Wright28, Peter P. Zandi14, David Zilles19, Michael Bauer32, Marcella Rietschel36, Francis J. McMahon3, Thomas G. Schulze, Martin Alda1 
19 Jun 2013
TL;DR: The key phenotypic measures of the “Retrospective Criteria of Long-Term Treatment Response in Research Subjects with Bipolar Disorder” scale currently used in the Consortium on lithium Genetics (ConLiGen) study are reported.
Abstract: OBJECTIVE: The assessment of response to lithium maintenance treatment in bipolar disorder (BD) is complicated by variable length of treatment, unpredictable clinical course, and often inconsistent compliance. Prospective and retrospective methods of assessment of lithium response have been proposed in the literature. In this study we report the key phenotypic measures of the "Retrospective Criteria of Long-Term Treatment Response in Research Subjects with Bipolar Disorder" scale currently used in the Consortium on Lithium Genetics (ConLiGen) study. MATERIALS AND METHODS: Twenty-nine ConLiGen sites took part in a two-stage case-vignette rating procedure to examine inter-rater agreement [Kappa (κ)] and reliability [intra-class correlation coefficient (ICC)] of lithium response. Annotated first-round vignettes and rating guidelines were circulated to expert research clinicians for training purposes between the two stages. Further, we analyzed the distributional properties of the treatment response scores available for 1,308 patients using mixture modeling. RESULTS: Substantial and moderate agreement was shown across sites in the first and second sets of vignettes (κ = 0.66 and κ = 0.54, respectively), without significant improvement from training. However, definition of response using the A score as a quantitative trait and selecting cases with B criteria of 4 or less showed an improvement between the two stages (ICC1 = 0.71 and ICC2 = 0.75, respectively). Mixture modeling of score distribution indicated three subpopulations (full responders, partial responders, non responders). CONCLUSIONS: We identified two definitions of lithium response, one dichotomous and the other continuous, with moderate to substantial inter-rater agreement and reliability. Accurate phenotypic measurement of lithium response is crucial for the ongoing ConLiGen pharmacogenomic study.

407 citations


Journal ArticleDOI
Betty Abelev1, Jaroslav Adam2, Dagmar Adamová3, Andrew Marshall Adare4  +997 moreInstitutions (89)
18 Jan 2013
TL;DR: In this article, the authors measured the centrality of inelastic Pb-Pb collisions at a center-of-mass energy of 2.76 TeV per colliding nucleon pair with ALICE.
Abstract: This publication describes the methods used to measure the centrality of inelastic Pb-Pb collisions at a center-of-mass energy of 2.76 TeV per colliding nucleon pair with ALICE. The centrality is a key parameter in the study of the properties of QCD matter at extreme temperature and energy density, because it is directly related to the initial overlap region of the colliding nuclei. Geometrical properties of the collision, such as the number of participating nucleons and the number of binary nucleon-nucleon collisions, are deduced from a Glauber model with a sharp impact parameter selection and shown to be consistent with those extracted from the data. The centrality determination provides a tool to compare ALICE measurements with those of other experiments and with theoretical calculations.

388 citations


Journal ArticleDOI
TL;DR: The possible role of circulating miRNAs as biomarkers, a field that needs urgent improvement in the clinical surveillance of HCC, and the fascinating possibility of using them as therapeutic targets or drugs themselves are discussed.

328 citations


Journal ArticleDOI
TL;DR: Both internal consistency and test–retest stability were good for the Italian version of the Eyes test, and scores were not related to social desirability.
Abstract: Introduction. The “Reading the Mind in the Eyes” test (henceforth, Eyes test) is a simple but advanced Theory of Mind test, and it is widely used across different cultures. This study assessed the reliability and construct (convergent and discriminant) validity of the Eyes test in Italy. Methods. A sample of 18- to 32-year-old undergraduate students of both sexes (N=200, males=46%) were invited to fill in the Italian version of the Eyes test, the Empathy Quotient (EQ), the Toronto Alexithymia Scale (TAS), and the Marlowe-Crowne Social Desirability Scale (SDS). Results. Internal consistency (Cronbach's alpha) was .605. Confirmatory factor analysis provided evidence for a unidimensional model, with maximal weighted internal consistency reliability=.719. Test–retest reliability for the Eyes test, as measured by intraclass correlation coefficient, was .833 (95% confidence interval=.745 to .902). Females scored significantly higher than males on both the Eyes test and the EQ, replicating earlier work. Those pa...


Journal ArticleDOI
TL;DR: Numerical applications to a Medium Voltage test Smart Grid show the advantages of using storage systems related to different options in terms of incentives and services to be provided.
Abstract: Energy storage is traditionally well established in the form of large scale pumped-hydro systems, but nowadays is finding increased attraction in medium and smaller scale systems. Such expansion is entirely complementary to the forecasted wider integration of intermittent renewable resources in future electrical distribution systems (Smart Grids). This paper is intended to offer a useful tool for analyzing potential advantages of distributed energy storages in Smart Grids with reference to both different possible conceivable regulatory schemes and services to be provided. The Smart Grid Operator is assumed to have the ownership and operation of the energy storage systems, and a new cost-based optimization strategy for their optimal placement, sizing and control is proposed. The need to quantify benefits of both the Smart Grid where the energy storage devices are included and the external interconnected grid is explored. Numerical applications to a Medium Voltage test Smart Grid show the advantages of using storage systems related to different options in terms of incentives and services to be provided.

Journal ArticleDOI
TL;DR: In this article, the performance of the LHCb Muon system and its stability across the full 2010 data taking with LHC running at root s = 7 TeV energy is studied.
Abstract: The performance of the LHCb Muon system and its stability across the full 2010 data taking with LHC running at root s = 7 TeV energy is studied. The optimization of the detector setting and the time calibration performed with the first collisions delivered by LHC is described. Particle rates, measured for the wide range of luminosities and beam operation conditions experienced during the run, are compared with the values expected from simulation. The space and time alignment of the detectors, chamber efficiency, time resolution and cluster size are evaluated. The detector performance is found to be as expected from specifications or better. Notably the overall efficiency is well above the design requirements.

Journal ArticleDOI
Betty Abelev1, Jaroslav Adam2, Dagmar Adamová3, Andrew Marshall Adare4  +963 moreInstitutions (95)
TL;DR: In this paper, the ALICE measurement of K^0_S and Lambda production at midrapidity in Pb-Pb collisions at sqrt(sNN) = 2.76 TeV is presented.
Abstract: The ALICE measurement of K^0_S and {\Lambda} production at mid-rapidity in Pb-Pb collisions at sqrt(sNN) = 2.76 TeV is presented. The transverse momentum (pT) spectra are shown for several collision centrality intervals and in the pT range from 0.4 GeV/c (0.6 GeV/c for {\Lambda}) to 12 GeV/c. The pT dependence of the {\Lambda}/K^0_S ratios exhibits maxima in the vicinity of 3 GeV/c, and the positions of the maxima shift towards higher pT with increasing collision centrality. The magnitude of these maxima increases by almost a factor of three between most peripheral and most central Pb-Pb collisions. This baryon excess at intermediate pT is not observed in pp interactions at sqrt(s) = 0.9 TeV and at sqrt(s) = 7 TeV. Qualitatively, the baryon enhancement in heavy-ion collisions is expected from radial flow. However, the measured pT spectra above 2 GeV/c progressively decouple from hydrodynamical-model calculations. For higher values of pT, models that incorporate the influence of the medium on the fragmentation and hadronization processes describe qualitatively the pT dependence of the {\Lambda}/K^0_S ratio.

Journal ArticleDOI
TL;DR: In this article, the authors examine how IT enables value co-creation in tourism and why some players appear to appropriate the value created in the partnership more successfully compared to others, and suggest that operators that achieve superior performance in terms of appropriating value do so because of superior strategic fit with the objectives of the value-creation initiative, synergy with other members of the network, and IT readiness to conduct business electronically.

Journal ArticleDOI
Betty Abelev1, Jaroslav Adam2, Dagmar Adamová3, Andrew Marshall Adare4  +999 moreInstitutions (81)
02 Jan 2013
TL;DR: Measurements of charge-dependent azimuthal correlations with the ALICE detector at the LHC show a clear signal compatible with a charge- dependent separation relative to the reaction plane, which shows little or no collision energy dependence when compared to measurements at RHIC energies.
Abstract: Measurements of charge-dependent azimuthal correlations with the ALICE detector at the LHC are reported for Pb-Pb collisions at root s(NN) = 2.76 TeV. Two- and three-particle charge-dependent azimuthal correlations in the pseudorapidity range vertical bar eta vertical bar < 0.8 are presented as a function of the collision centrality, particle separation in pseudorapidity, and transverse momentum. A clear signal compatible with a charge-dependent separation relative to the reaction plane is observed, which shows little or no collision energy dependence when compared to measurements at RHIC energies. This provides a new insight for understanding the nature of the charge-dependent azimuthal correlations observed at RHIC and LHC energies. DOI: 10.1103/PhysRevLett.110.012301

Journal ArticleDOI
TL;DR: Two new composite measures to assess disease activity in PsA have been developed by multiple linear regression and empirically, utilising physician-defined cut-offs for disease activity, and area under the receiver operating curves (AUC) were generally smaller.
Abstract: Objective To develop new composite disease activity indices for psoriatic arthritis (PsA). Methods Data from routine clinic visits at multiple centres were collected in a systematic manner. Data included all domains identified as important in randomised controlled trials in PsA. Decisions to change treatment were used as surrogates for high disease activity. New indices were developed by multiple linear regression (psoriatic arthritis disease activity score: PASDAS) and empirically, utilising physician-defined cut-offs for disease activity (arithmetic mean of desirability functions: AMDF). These were compared with existing composite measures: Composite Psoriatic arthritis Disease Activity Index (CPDAI), Disease Activity for PSoriatic Arthritis (DAPSA), and Disease Activity Score for rheumatoid arthritis (DAS28). Results 161/503 (32%) subjects had treatment changes. Although all measures performed well, compared with existing indices, PASDAS was better able to discriminate between high and low disease activity (area under receiver operating curves (ROC)) curve with 95% CI: PASDAS 0.773 (0.723, 0.822); AMDF 0.730 (0.680, 0.780); CPDAI 0.719 (0.668, 0.770); DAPSA 0.710 (0.654, 0.766); DAS28 0.736 (0.680, 0.792). All measures were able to discriminate between disease activity states in patients with oligoarthritis, although area under the receiver operating curves (AUC) were generally smaller. In patients with severe skin disease (psoriasis area and severity index >10) both nonparametric and AUC curve statistics were nonsignificant for all measures. Conclusions Two new composite measures to assess disease activity in PsA have been developed. Further testing in other datasets, including comparison with existing measures, is required to validate these instruments.

Journal ArticleDOI
TL;DR: For reliable predictive models of fermentative hydrogen production to be derived, a high level of consistency between data is strictly required, claiming for more systematic and comprehensive studies on the subject.

Journal ArticleDOI
TL;DR: An efficient branch-current-based distribution systems state estimation that allows synchronized phasor measurements provided by PMUs to be included and the knowledge of the voltage profile is significantly improved.
Abstract: Deregulation and privatization actions are creating new problems of control, management and reliability, because of new players and new technologies spreading in distribution systems. Such new scenarios require more comprehensive and accurate knowledge of the system to make control actions efficient and reliable. In particular, attention must be paid to phase angles estimation to avoid critical situations. In this context, the use of phasor measurement units (PMUs) looks promising. This paper presents an efficient branch-current-based distribution systems state estimation. The estimator allows synchronized phasor measurements provided by PMUs to be included. In addition, the branch current state model is extended so that the knowledge of the voltage profile is significantly improved. The estimator is expressed both in polar and rectangular coordinates and a comparison between the obtainable accuracy and computational efficiency is presented. Furthermore, the possibility to treat radial and weakly meshed topology, also in presence of dispersed generation, is analyzed. The results obtained on different distribution networks are presented and discussed.

Journal ArticleDOI
Sonja I. Berndt1, Christine F. Skibola2, Christine F. Skibola3, Vijai Joseph4, Nicola J. Camp5, Alexandra Nieters6, Zhaoming Wang1, Wendy Cozen7, Alain Monnereau8, Sophia S. Wang9, Rachel S. Kelly10, Qing Lan1, Lauren R. Teras11, Nilanjan Chatterjee1, Charles C. Chung1, Meredith Yeager1, Angela Brooks-Wilson12, Angela Brooks-Wilson13, Patricia Hartge1, Mark P. Purdue1, Brenda M. Birmann14, Bruce K. Armstrong15, Pierluigi Cocco16, Yawei Zhang17, Gianluca Severi18, Anne Zeleniuch-Jacquotte19, Charles E. Lawrence, Laurie Burdette1, Jeffrey Yuenger1, Amy Hutchinson1, Kevin B. Jacobs1, Timothy G. Call20, Tait D. Shanafelt20, Anne J. Novak20, Neil E. Kay20, Mark Liebow20, Alice H. Wang20, Karin E. Smedby21, Hans-Olov Adami14, Hans-Olov Adami21, Mads Melbye22, Bengt Glimelius23, Bengt Glimelius21, Ellen T. Chang24, Ellen T. Chang25, Martha Glenn5, Karen Curtin5, Lisa A. Cannon-Albright5, Lisa A. Cannon-Albright26, Brandt Jones5, W. Ryan Diver11, Brian K. Link27, George J. Weiner27, Lucia Conde2, Lucia Conde3, Paige M. Bracci28, Jacques Riby2, Elizabeth A. Holly28, Martyn T. Smith2, Rebecca D. Jackson29, Lesley F. Tinker30, Yolanda Benavente, Nikolaus Becker31, Paolo Boffetta32, Paul Brennan33, Lenka Foretova, Marc Maynadié34, James McKay33, Anthony Staines35, Kari G. Rabe20, Sara J. Achenbach20, Celine M. Vachon20, Lynn R. Goldin1, Sara S. Strom36, Mark C. Lanasa37, Logan G. Spector38, Jose F. Leis20, Julie M. Cunningham20, J. Brice Weinberg37, Vicki A. Morrison26, Neil E. Caporaso1, Aaron D. Norman20, Martha S. Linet1, Anneclaire J. De Roos30, Lindsay M. Morton1, Richard K. Severson39, Elio Riboli10, Paolo Vineis10, Rudolf Kaaks31, Dimitrios Trichopoulos14, Dimitrios Trichopoulos40, Giovanna Masala, Elisabete Weiderpass, María Dolores Chirlaque, Roel Vermeulen41, Ruth C. Travis42, Graham G. Giles18, Demetrius Albanes1, Jarmo Virtamo43, Stephanie J. Weinstein1, Jacqueline Clavel8, Tongzhang Zheng17, Theodore R. Holford17, Kenneth Offit4, Andrew D. Zelenetz4, Robert J. Klein4, John J. Spinelli13, Kimberly A. Bertrand14, Francine Laden14, Edward Giovannucci14, Peter Kraft14, Anne Kricker15, Jenny Turner44, Claire M. Vajdic45, Maria Grazia Ennas16, Giovanni Maria Ferri46, Lucia Miligi, Liming Liang14, Joshua N. Sampson1, Simon Crouch47, Ju-Hyun Park48, Kari E. North49, Angela Cox50, John A. Snowden50, Josh Wright, Angel Carracedo51, Carlos López-Otín52, Sílvia Beà53, Itziar Salaverria53, David Martín-García53, Elias Campo53, Joseph F. Fraumeni1, Silvia de Sanjosé, Henrik Hjalgrim22, James R. Cerhan20, Stephen J. Chanock1, Nathaniel Rothman1, Susan L. Slager20 
National Institutes of Health1, University of California, Berkeley2, University of Alabama3, Memorial Sloan Kettering Cancer Center4, University of Utah5, University of Freiburg6, University of Southern California7, French Institute of Health and Medical Research8, City of Hope National Medical Center9, Imperial College London10, American Cancer Society11, Simon Fraser University12, University of British Columbia13, Harvard University14, University of Sydney15, University of Cagliari16, Yale University17, Cancer Council Victoria18, New York University19, Mayo Clinic20, Karolinska Institutet21, Statens Serum Institut22, Uppsala University23, Stanford University24, Exponent25, Veterans Health Administration26, University of Iowa27, University of California, San Francisco28, Ohio State University29, Fred Hutchinson Cancer Research Center30, German Cancer Research Center31, Icahn School of Medicine at Mount Sinai32, International Agency for Research on Cancer33, University of Burgundy34, Dublin City University35, University of Texas MD Anderson Cancer Center36, Duke University37, University of Minnesota38, Wayne State University39, Academy of Athens40, Utrecht University41, University of Oxford42, National Institute for Health and Welfare43, Macquarie University44, University of New South Wales45, University of Bari46, University of York47, Dongguk University48, University of North Carolina at Chapel Hill49, University of Sheffield50, University of Santiago de Compostela51, University of Oviedo52, University of Barcelona53
TL;DR: The largest meta-analysis for CLL thus far, including four GWAS with a total of 3,100 individuals with CLL (cases) and 7,667 controls, identified ten independent associated SNPs in nine new loci and found evidence for two additional promising loci below genome-wide significance.
Abstract: Genome-wide association studies (GWAS) have previously identified 13 loci associated with risk of chronic lymphocytic leukemia or small lymphocytic lymphoma (CLL). To identify additional CLL susceptibility loci, we conducted the largest meta-analysis for CLL thus far, including four GWAS with a total of 3,100 individuals with CLL (cases) and 7,667 controls. In the meta-analysis, we identified ten independent associated SNPs in nine new loci at 10q23.31 (ACTA2 or FAS (ACTA2/FAS), P=1.22×10(-14)), 18q21.33 (BCL2, P=7.76×10(-11)), 11p15.5 (C11orf21, P=2.15×10(-10)), 4q25 (LEF1, P=4.24×10(-10)), 2q33.1 (CASP10 or CASP8 (CASP10/CASP8), P=2.50×10(-9)), 9p21.3 (CDKN2B-AS1, P=1.27×10(-8)), 18q21.32 (PMAIP1, P=2.51×10(-8)), 15q15.1 (BMF, P=2.71×10(-10)) and 2p22.2 (QPCT, P=1.68×10(-8)), as well as an independent signal at an established locus (2q13, ACOXL, P=2.08×10(-18)). We also found evidence for two additional promising loci below genome-wide significance at 8q22.3 (ODF1, P=5.40×10(-8)) and 5p15.33 (TERT, P=1.92×10(-7)). Although further studies are required, the proximity of several of these loci to genes involved in apoptosis suggests a plausible underlying biological mechanism.

Journal ArticleDOI
TL;DR: In this article, a type of locally resonant structure involving arrays of structured coated inclusions is proposed, which can be used as a design tool to tune stop band changing relative inclinations, number, and cross section of the beams.
Abstract: We propose a type of locally resonant structure involving arrays of structured coated inclusions. The coating consists of a structural interface with beams inclined at a certain angle. Such an elastic metamaterial supports tunable low-frequency stop bands associated with localized rotational modes that can be used in the design of filtering, reflecting, and focusing devices. Asymptotic estimates for resonant frequencies are in good agreement with finite element computations and can be used as a design tool to tune stop band changing relative inclinations, number, and cross section of the beams. Inertial resonators with inclined ligaments allow for anomalous dispersion (negative group velocity) to occur in the pressure acoustic band and this leads to the physics of negative refraction, whereby a point force located above a finite array of resonators is imaged underneath for a given polarization. We finally observe that for a periodic macrocell of the former inertial resonators with one defect in the middle, an elastic trapped mode exists within a high-frequency stop band. The latter design could be used in the enhancement of light and sound interactions in photonic crystal fiber preforms.

Journal ArticleDOI
Roel Aaij, C. Abellan Beteta1, C. Abellan Beteta2, A. Adametz3  +657 moreInstitutions (56)
TL;DR: In this article, the relative production rate of B0s and B 0 mesons is determined with the hadronic decays B 0s→D−sπ+ and B0 → D − K +.
Abstract: The relative production rate of B0s and B 0 mesons is determined with the hadronic decays B0s→D−sπ+ and B 0 → D − K +. The measurement uses data corresponding to 1.0 fb−1 of pp collisions at a centre-of-mass energy of s√=7 TeV recorded in the forward region with the LHCb experiment. The ratio of production rates, f s /f d , is measured to be 0.238 ± 0.004 ± 0.015 ± 0.021, where the first uncertainty is statistical, the second systematic, and the third theoretical. This is combined with a previous LHCb measurement to obtain f s /f d = 0.256 ± 0.020. The dependence of f s /f d on the transverse momentum and pseudorapidity of the B meson is determined using the decays B0s→D−sπ+ and B 0 → D −π+. There is evidence for a decrease with increasing transverse momentum, whereas the ratio remains constant as a function of pseudorapidity. In addition, the ratio of branching fractions of the decays B 0 → D − K + and B 0 → D −π+ is measured to be 0.0822 ± 0.0011 (stat) ± 0.0025 (syst).

Journal ArticleDOI
TL;DR: In this article, the authors report results from an econometric study of tourism flows for the 107 Italian provinces based on origin-destination (OD) spatial interaction models, which includes both pull and push characteristics to assess their relative roles in determining the attractiveness of the provinces to tourists.

Journal ArticleDOI
Eleonora Porcu, Marco Medici1, Giorgio Pistis2, Claudia B. Volpato3, Scott Wilson4, Anne R. Cappola5, Steffan D. Bos, Joris Deelen, Martin den Heijer6, Rachel M. Freathy7, Jari Lahti8, Chunyu Liu, Lorna M. Lopez9, Ilja M. Nolte, Jeffrey R. O'Connell10, Toshiko Tanaka11, Stella Trompet12, Alice M. Arnold13, Stefania Bandinelli, Marian Beekman, Stefan Böhringer12, Suzanne J. Brown14, Brendan M. Buckley15, Clara Camaschella16, Anton J. M. de Craen12, Gail Davies9, Marieke de Visser17, Ian Ford18, Tom Forsén, Timothy M. Frayling7, Laura Fugazzola19, Martin Gögele3, Andrew T. Hattersley7, Ad R. M. M. Hermus17, Albert Hofman, Jeanine J. Houwing-Duistermaat12, Richard A. Jensen13, Eero Kajantie8, Margreet Kloppenburg12, Ee Mun Lim, Corrado Masciullo, Stefano Mariotti20, Cosetta Minelli3, Braxton D. Mitchell10, Ramaiah Nagaraja11, Romana T. Netea-Maier17, Aarno Palotie8, Luca Persani19, Maria Grazia Piras, Bruce M. Psaty21, Katri Räikkönen8, J. Brent Richards22, Fernando Rivadeneira, Cinzia Sala, Mona M. Sabra23, Naveed Sattar, Beverley M. Shields7, Nicole Soranzo24, John M. Starr9, David J. Stott18, Fred C.G.J. Sweep17, Gianluca Usala, Melanie M. van der Klauw25, Diana van Heemst12, Alies A. van Mullem1, Sita H. Vermeulen17, W. Edward Visser1, John P. Walsh4, Rudi G. J. Westendorp12, Elisabeth Widen8, Guangju Zhai26, Francesco Cucca2, Ian J. Deary9, Johan G. Eriksson, Luigi Ferrucci11, Caroline S. Fox27, J. Wouter Jukema, Lambertus A. Kiemeney17, Peter P. Pramstaller3, David Schlessinger11, Alan R. Shuldiner28, Eline Slagboom, André G. Uitterlinden, Bijay Vaidya, Theo J. Visser1, Bruce H. R. Wolffenbuttel, Ingrid Meulenbelt, Jerome I. Rotter29, Tim D. Spector30, Andrew A. Hicks3, Daniela Toniolo, Serena Sanna, Robin P. Peeters1, Silvia Naitza 
TL;DR: A large meta-analysis of genome-wide association studies for serum levels of the highly heritable thyroid function markers TSH and FT4 improves the current knowledge of the regulation of hypothalamic-pituitary-thyroid axis function and the consequences of genetic variation for hypo- or hyperthyroidism.
Abstract: Thyroid hormone is essential for normal metabolism and development, and overt abnormalities in thyroid function lead to common endocrine disorders affecting approximately 10% of individuals over their life span. In addition, even mild alterations in thyroid function are associated with weight changes, atrial fibrillation, osteoporosis, and psychiatric disorders. To identify novel variants underlying thyroid function, we performed a large meta-analysis of genome-wide association studies for serum levels of the highly heritable thyroid function markers TSH and FT4, in up to 26,420 and 17,520 euthyroid subjects, respectively. Here we report 26 independent associations, including several novel loci for TSH (PDE10A, VEGFA, IGFBP5, NFIA, SOX9, PRDM11, FGF7, INSR, ABO, MIR1179, NRG1, MBIP, ITPK1, SASH1, GLIS3) and FT4 (LHX3, FOXE1, AADAT, NETO1/FBXO15, LPCAT2/CAPNS2). Notably, only limited overlap was detected between TSH and FT4 associated signals, in spite of the feedback regulation of their circulating levels by the hypothalamic-pituitary-thyroid axis. Five of the reported loci (PDE8B, PDE10A, MAF/LOC440389, NETO1/FBXO15, and LPCAT2/CAPNS2) show strong gender-specific differences, which offer clues for the known sexual dimorphism in thyroid function and related pathologies. Importantly, the TSH-associated loci contribute not only to variation within the normal range, but also to TSH values outside the reference range, suggesting that they may be involved in thyroid dysfunction. Overall, our findings explain, respectively, 5.64% and 2.30% of total TSH and FT4 trait variance, and they improve the current knowledge of the regulation of hypothalamic-pituitary-thyroid axis function and the consequences of genetic variation for hypo- or hyperthyroidism.

Proceedings ArticleDOI
04 Jun 2013
TL;DR: The Fingerprint Liveness Detection Competition (LivDet) goal is to compare both software-based and hardware-based fingerprint liveness detection methodologies and is open to all academic and industrial institutions.
Abstract: A spoof or fake is a counterfeit biometric that is used in an attempt to circumvent a biometric sensor Liveness detection distinguishes between live and fake biometric traits. Liveness detection is based on the principle that additional information can be garnered above and beyond the data procured by a standard verification system, and this additional data can be used to verify if a biometric measure is authentic. The Fingerprint Liveness Detection Competition (LivDet) goal is to compare both software-based (Part 1) and hardware-based (Part 2) fingerprint liveness detection methodologies and is open to all academic and industrial institutions. Submissions for the third edition were much more than in the previous editions of LivDet demonstrating a growing interest in the area. We had nine participants (with eleven algorithms) for Part 1 and two submissions for Part 2.

Journal ArticleDOI
TL;DR: The recent successful studies of fetal DNA in maternal plasma may allow future prenatal diagnosis that is noninvasive for the fetus, and the major prevention programs that are set up in many countries in Europe, Asia, and Australia are discussed.
Abstract: The thalassemias are among the most common inherited diseases worldwide, affecting individuals originating from the Mediterranean area, Middle East, Transcaucasia, Central Asia, Indian subcontinent, and Southeast Asia. As the diseases require long-term care, prevention of the homozygous state constitutes a major armament in the management. This article discusses the major prevention programs that are set up in many countries in Europe, Asia, and Australia, often drawing from the experience in Sardinia. These comprehensive programs involve carrier detections, molecular diagnostics, genetic counseling, and prenatal diagnosis. Variability of clinical severity can be attributable to interactions with α-thalassemia and mutations that increase fetal productions. Special methods that are currently quite expensive and not widely applicable are preimplantation and preconception diagnosis. The recent successful studies of fetal DNA in maternal plasma may allow future prenatal diagnosis that is noninvasive for the fetus.

Journal ArticleDOI
TL;DR: In this paper, a global re-analysis of the most recent experimental data on azimuthal asymmetries in semi-inclusive deep inelastic scattering, from the HERMES and COMPASS Collaborations, was presented.
Abstract: We present a global re-analysis of the most recent experimental data on azimuthal asymmetries in semi-inclusive deep inelastic scattering, from the HERMES and COMPASS Collaborations, and in e{sup +}e{sup -} {yields} h{sub 1} h{sub 2} X processes, from the Belle Collaboration. The transversity and the Collins functions are extracted simultaneously, in the framework of a revised global analysis in which a new parameterisation of the unknown functions is also tested.

Journal ArticleDOI
TL;DR: This paper will provide a general taxonomy of attack tactics against IDSs, an extensive description of how such attacks can be implemented by exploiting IDS weaknesses at different abstraction levels, and highlight the most promising research directions for the design of adversary-aware, harder-to-defeat IDS solutions.

Journal ArticleDOI
TL;DR: A characterization of complex Laplacians that preserve a specific planar formation as an equilibrium solution for both single integrator kinematics and double integrator dynamics is presented.