scispace - formally typeset
Search or ask a question

Showing papers by "Sapienza University of Rome published in 2013"


Journal ArticleDOI
TL;DR: This study enhances the catalog of multiple sclerosis risk variants and illustrates the value of fine mapping in the resolution of GWAS signals.
Abstract: Using the ImmunoChip custom genotyping array, we analyzed 14,498 subjects with multiple sclerosis and 24,091 healthy controls for 161,311 autosomal variants and identified 135 potentially associated regions (P < 10 × 10(-4)) In a replication phase, we combined these data with previous genome-wide association study (GWAS) data from an independent 14,802 subjects with multiple sclerosis and 26,703 healthy controls In these 80,094 individuals of European ancestry, we identified 48 new susceptibility variants (P < 50 × 10(-8)), 3 of which we found after conditioning on previously identified variants Thus, there are now 110 established multiple sclerosis risk variants at 103 discrete loci outside of the major histocompatibility complex With high-resolution Bayesian fine mapping, we identified five regions where one variant accounted for more than 50% of the posterior probability of association This study enhances the catalog of multiple sclerosis risk variants and illustrates the value of fine mapping in the resolution of GWAS signals

1,197 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
M. Aguilar1, G Alberti2, Behcet Alpat, A. Alvino2  +344 moreInstitutions (39)
TL;DR: The very accurate data show that the positron fraction is steadily increasing from 10 to ∼ 250 GeV, but, from 20 to 250 GeV, the slope decreases by an order of magnitude, showing the existence of new physical phenomena.
Abstract: A precision measurement by the Alpha Magnetic Spectrometer on the International Space Station of the positron fraction in primary cosmic rays in the energy range from 0.5 to 350 GeV based on 6.8 × 10(6) positron and electron events is presented. The very accurate data show that the positron fraction is steadily increasing from 10 to ∼ 250 GeV, but, from 20 to 250 GeV, the slope decreases by an order of magnitude. The positron fraction spectrum shows no fine structure, and the positron to electron ratio shows no observable anisotropy. Together, these features show the existence of new physical phenomena.

1,100 citations


Journal ArticleDOI
TL;DR: Significant ambiguities still plague the field regarding the nature, identity, function, mode of isolation and experimental handling of MSCs, which have a major impact on their envisioned therapeutic use.
Abstract: Mesenchymal stem cells (MSCs) are the focus of intensive efforts worldwide directed not only at elucidating their nature and unique properties but also developing cell-based therapies for a diverse range of diseases. More than three decades have passed since the original formulation of the concept, revolutionary at the time, that multiple connective tissues could emanate from a common progenitor or stem cell retained in the postnatal bone marrow. Despite the many important advances made since that time, substantial ambiguities still plague the field regarding the nature, identity, function, mode of isolation and experimental handling of MSCs. These uncertainties have a major impact on their envisioned therapeutic use.

1,044 citations


Journal ArticleDOI
TL;DR: This review will focus on the most current advances in the pathophysiological mechanisms of vascular disease: emerging role of endothelium in obesity-induced insulin resistance, hyperglycemia-dependent microRNAs deregulation and impairment of vascular repair capacities, and alterations of coagulation, platelet reactivity, and microparticle release.
Abstract: In part II of this review, we describe the epidemiology and clinical consequences of vascular disease in patients with diabetes, and discuss the efficacy of risk factor modification and antiplatelet treatment. Specifically, evidence-based cardiovascular therapies are discussed through novel clinical insights on management of hyperglycaemia, hypertension, dyslipidaemia as well as platelet dysfunction. Recent trends in the incidence and outcomes of vascular disease in diabetes suggest that timely and effective implementation of therapies is making a favourable impact.

1,013 citations


Journal ArticleDOI
TL;DR: These revised Porto criteria for the diagnosis of P IBD have been developed to meet present challenges and developments in PIBD and provide up-to-date guidelines for the definition and diagnosis of the IBD spectrum.
Abstract: Background: The diagnosis of pediatric-onset inflammatory bowel disease (PIBD) can be challenging in choosing the most informative diagnostic tests and correctly classifying PIBD into its different subtypes. Recent advances in our understanding of the natural history and phenotype of PIBD, increasing availability of serological and fecal biomarkers, and the emergence of novel endoscopic and imaging technologies taken together have made the previous Porto criteria for the diagnosis of PIBD obsolete. Methods: We aimed to revise the original Porto criteria using an evidencebased approach and consensus process to yield specific practice recommendations for the diagnosis of PIBD. These revised criteria are based on the Paris classification of PIBD and the original Porto criteria while incorporating novel data, such as for serum and fecal biomarkers. A consensus of at least 80% of participants was achieved for all recommendations and the summary algorithm. Results: The revised criteria depart from existing criteria by defining 2 categories of ulcerative colitis (UC, typical and atypical); atypical phenotypes of UC should be treated as UC. A novel approach based on multiple criteria for diagnosing IBD-unclassified (IBD-U) is proposed. Specifically, these revised criteria recommend upper gastrointestinal endoscopy and ileocolonscopy for all suspected patients with PIBD, with small bowel imaging (unless typical UC after endoscopy and histology) by magnetic resonance enterography or wireless capsule endoscopy.

929 citations


Journal ArticleDOI
S. Schael1, R. Barate2, R. Brunelière2, D. Buskulic2  +1672 moreInstitutions (143)
TL;DR: In this paper, the results of the four LEP experiments were combined to determine fundamental properties of the W boson and the electroweak theory, including the branching fraction of W and the trilinear gauge-boson self-couplings.

684 citations


Journal ArticleDOI
TL;DR: In this article, a five-mode integrated interferometer containing three-dimensional S-bent waveguides was used to sample three single photons and the probability ratios of all events were measured.
Abstract: The boson-sampling problem was demonstrated by studying three-photon interference in a five-mode integrated interferometer containing three-dimensional S-bent waveguides. Three single photons were input into the interferometer and the probability ratios of all events were measured. The results agree with quantum mechanical predictions for three-photon interference.

668 citations


Journal ArticleDOI
TL;DR: In this article, a detailed description of the analysis used by the CMS Collaboration in the search for the standard model Higgs boson in pp collisions at the LHC, which led to the observation of a new boson.
Abstract: A detailed description is reported of the analysis used by the CMS Collaboration in the search for the standard model Higgs boson in pp collisions at the LHC, which led to the observation of a new boson. The data sample corresponds to integrated luminosities up to 5.1 inverse femtobarns at sqrt(s) = 7 TeV, and up to 5.3 inverse femtobarns at sqrt(s) = 8 TeV. The results for five Higgs boson decay modes gamma gamma, ZZ, WW, tau tau, and bb, which show a combined local significance of 5 standard deviations near 125 GeV, are reviewed. A fit to the invariant mass of the two high resolution channels, gamma gamma and ZZ to 4 ell, gives a mass estimate of 125.3 +/- 0.4 (stat) +/- 0.5 (syst) GeV. The measurements are interpreted in the context of the standard model Lagrangian for the scalar Higgs field interacting with fermions and vector bosons. The measured values of the corresponding couplings are compared to the standard model predictions. The hypothesis of custodial symmetry is tested through the measurement of the ratio of the couplings to the W and Z bosons. All the results are consistent, within their uncertainties, with the expectations for a standard model Higgs boson.

643 citations


Journal ArticleDOI
TL;DR: This work reviews the current status of phenomenological programs inspired by quantum-spacetime research and stresses the significance of results establishing that certain data analyses provide sensitivity to effects introduced genuinely at the Planck scale.
Abstract: I review the current status of phenomenological programs inspired by quantum-spacetime research. I stress in particular the significance of results establishing that certain data analyses provide sensitivity to effects introduced genuinely at the Planck scale. My main focus is on phenomenological programs that affect the directions taken by studies of quantum-spacetime theories.

642 citations


Journal ArticleDOI
TL;DR: In patients with polycythemia vera, those with a hematocrit target of less than 45% had a significantly lower rate of cardiovascular death and major thrombosis than did those with an intended target of 45 to 50%.
Abstract: A b s t r ac t Background Current treatment recommendations for patients with polycythemia vera call for maintaining a hematocrit of less than 45%, but this therapeutic strategy has not been tested in a randomized clinical trial. Methods We randomly assigned 365 adults with JAK2-positive polycythemia vera who were being treated with phlebotomy, hydroxyurea, or both to receive either more intensive treatment (target hematocrit, <45%) (low-hematocrit group) or less intensive treatment (target hematocrit, 45 to 50%) (high-hematocrit group). The primary composite end point was the time until death from cardiovascular causes or major thrombotic events. The secondary end points were cardiovascular events, cardiovascular hospitalizations, incidence of cancer, progression to myelofibrosis, myelodysplasia or leukemic transformation, and hemorrhage. An intention-to-treat analysis was performed. Results After a median follow-up of 31 months, the primary end point was recorded in 5 of 182 patients in the low-hematocrit group (2.7%) and 18 of 183 patients in the highhematocrit group (9.8%) (hazard ratio in the high-hematocrit group, 3.91; 95% confidence interval [CI], 1.45 to 10.53; P = 0.007). The primary end point plus superficial-vein thrombosis occurred in 4.4% of patients in the low-hematocrit group, as compared with 10.9% in the high-hematocrit group (hazard ratio, 2.69; 95% CI, 1.19 to 6.12; P = 0.02). Progression to myelofibrosis, myelodysplasia or leukemic transformation, and bleeding were observed in 6, 2, and 2 patients, respectively, in the low-hematocrit group, as compared with 2, 1, and 5 patients, respectively, in the high-hematocrit group. There was no significant between-group difference in the rate of adverse events. Conclusions In patients with polycythemia vera, those with a hematocrit target of less than 45% had a significantly lower rate of cardiovascular death and major thrombosis than did those with a hematocrit target of 45 to 50%. (Funded by the Italian Medicines Agency and others; ClinicalTrials.gov number, NCT01645124, and EudraCT number, 2007–006694-91.)

Journal ArticleDOI
Georges Aad1, T. Abajyan2, Brad Abbott3, Jalal Abdallah  +2942 moreInstitutions (201)
TL;DR: In this paper, the spin and parity quantum numbers of the Higgs boson were studied based on the collision data collected by the ATLAS experiment at the LHC, and the results showed that the standard model spin-parity J(...

Journal ArticleDOI
J. P. Lees1, V. Poireau1, V. Tisserand1, E. Grauges2  +337 moreInstitutions (73)
TL;DR: The concept for this analysis is to a large degree based on earlier BABAR work and we acknowledge the guidance provided by M. Mazur as discussed by the authors, who consulted with theorists A. Datta, S. Westhoff,S. Fajfer, J. Kamenik, and I. Nisandzic on the calculations of the charged Higgs contributions to the decay rates.
Abstract: The concept for this analysis is to a large degree based on earlier BABAR work and we acknowledge the guidance provided by M. Mazur. The authors consulted with theorists A. Datta, S. Westhoff, S. Fajfer, J. Kamenik, and I. Nisandzic on the calculations of the charged Higgs contributions to the decay rates. We are grateful for the extraordinary contributions of our PEP-II colleagues in achieving the excellent luminosity and machine conditions that have made this work possible. The success of this project also relied critically on the expertise and dedication of the computing organizations that support BABAR. The collaborating institutions wish to thank SLAC for its support and the kind hospitality extended to them. This work is supported by the U.S. Department of Energy and National Science Foundation, the Natural Sciences and Engineering Research Council (Canada), the Commissariat a l'Energie Atomique and Institut National de Physique Nucleaire et de Physique des Particules (France), the Bundesministerium fur Bildung und Forschung and Deutsche Forschungsgemeinschaft (Germany), the Istituto Nazionale di Fisica Nucleare (Italy), the Foundation for Fundamental Research on Matter (Netherlands), the Research Council of Norway, the Ministry of Education and Science of the Russian Federation, Ministerio de Economia y Competitividad (Spain), and the Science and Technology Facilities Council (United Kingdom). Individuals have received support from the Marie-Curie IEF program (European Union) and the A. P. Sloan Foundation (USA).

Journal ArticleDOI
TL;DR: The data collected by the MEG experiment at the Paul Scherrer Institut show no excess of events compared to background expectations and yield a new upper limit on the branching ratio of this decay of 5.7 × 10(-13) (90% confidence level).
Abstract: The analysis of a combined data set, totaling $3.6\ifmmode\times\else\texttimes\fi{}{10}^{14}$ stopped muons on target, in the search for the lepton flavor violating decay ${\ensuremath{\mu}}^{+}\ensuremath{\rightarrow}{e}^{+}\ensuremath{\gamma}$ is presented. The data collected by the MEG experiment at the Paul Scherrer Institut show no excess of events compared to background expectations and yield a new upper limit on the branching ratio of this decay of $5.7\ifmmode\times\else\texttimes\fi{}{10}^{\ensuremath{-}13}$ (90% confidence level). This represents a four times more stringent limit than the previous world best limit set by MEG.

Journal ArticleDOI
TL;DR: This review focuses on what is currently known regarding the role of commensal Clostridia in the maintenance of overall gut function, as well as touch on their potential contribution in the unfavorable alteration of microbiota composition (dysbiosis) that has been implicated in several gastrointestinal disorders.
Abstract: The gastrointestinal tract is a complex and dynamic network where an intricate and mutualistic symbiosis modulates the relationship between the host and the microbiota in order to establish and ensure gut homeostasis. Commensal Clostridia consist of gram-positive, rod-shaped bacteria in the phylum Firmicutes and make up a substantial part of the total bacteria in the gut microbiota. They start to colonize the intestine of breastfed infants during the first month of life and populate a specific region in the intestinal mucosa in close relationship with intestinal cells. This position allows them to participate as crucial factors in modulating physiologic, metabolic and immune processes in the gut during the entire lifespan, by interacting with the other resident microbe populations, but also by providing specific and essential functions. This review focus on what is currently known regarding the role of commensal Clostridia in the maintenance of overall gut function, as well as touch on their potential contribution in the unfavorable alteration of microbiota composition (dysbiosis) that has been implicated in several gastrointestinal disorders. Commensal Clostridia are strongly involved in the maintenance of overall gut function. This leads to important translational implications in regard to the prevention and treatment of dysbiosis, to drug efficacy and toxicity, and to the development of therapies that may modulate the composition of the microflora, capitalizing on the key role of commensal Clostridia, with the end goal of promoting gut health.

Journal ArticleDOI
TL;DR: The present report provides the first definition of a “Cognitive Frailty” condition in older adults and proposes the use of multidomain interventions focused on the physical, nutritional, cognitive and psychological domains for improving the well-being and quality of life in the elderly.
Abstract: The frailty syndrome has recently attracted attention of the scientific community and public health organizations as precursor and contributor of age-related conditions (particularly disability) in older persons. In parallel, dementia and cognitive disorders also represent major healthcare and social priorities. Although physical frailty and cognitive impairment have shown to be related in epidemiological studies, their pathophysiological mechanisms have been usually studied separately. An International Consensus Group on "Cognitive Frailty" was organized by the International Academy on Nutrition and Aging (I.A.N.A) and the International Association of Gerontology and Geriatrics (I.A.G.G) on April 16th, 2013 in Toulouse (France). The present report describes the results of the Consensus Group and provides the first definition of a "Cognitive Frailty" condition in older adults. Specific aim of this approach was to facilitate the design of future personalized preventive interventions in older persons. Finally, the Group discussed the use of multidomain interventions focused on the physical, nutritional, cognitive and psychological domains for improving the well-being and quality of life in the elderly. The consensus panel proposed the identification of the so-called "cognitive frailty" as an heterogeneous clinical manifestation characterized by the simultaneous presence of both physical frailty and cognitive impairment. In particular, the key factors defining such a condition include: 1) presence of physical frailty and cognitive impairment (CDR=0.5); and 2) exclusion of concurrent AD dementia or other dementias. Under different circumstances, cognitive frailty may represent a precursor of neurodegenerative processes. A potential for reversibility may also characterize this entity. A psychological component of the condition is evident and concurs at increasing the vulnerability of the individual to stressors.


Journal ArticleDOI
TL;DR: This Progress Report highlights four different strategies which have been used to achieve giant chiroptical effects in chiral nanostructures, and presents two examples of chiral switches, where switching the chirality of incoming light causes a reversal of the handedness in the nanostructure.
Abstract: Strong chiroptical effects recently reported result from the interaction of light with chiral plasmonic nanostructures. Such nanostructures can be used to enhance the chiroptical response of chiral molecules and could also significantly increase the enantiomeric excess of direct asymmetric synthesis and catalysis. Moreover, in optical metamaterials, chirality leads to negative refractive index and all the promising applications thereof. In this Progress Report, we highlight four different strategies which have been used to achieve giant chiroptical effects in chiral nanostructures. These strategies consecutively highlight the importance of chirality in the nanostructures (for linear and nonlinear chiroptical effects), in the experimental setup and in the light itself. Because, in the future, manipulating chirality will play an important role, we present two examples of chiral switches. Whereas in the first one, switching the chirality of incoming light causes a reversal of the handedness in the nanostructures, in the second one, switching the handedness of the nanostructures causes a reversal in the chirality of outgoing light.

Journal ArticleDOI
TL;DR: In this paper, two-particle angular correlations for charged particles emitted in pPb collisions at a nucleon-nucleon center-of-mass energy of 5.02 TeV are presented.

Journal ArticleDOI
TL;DR: ECCO and ESGAR scientific societies jointly elaborated a consensus to establish standards for imaging in IBD using magnetic resonance imaging, computed tomography, ultrasonography, and including also other radiologic procedures such as conventional radiology or nuclear medicine examinations for different clinical situations.

Journal ArticleDOI
23 Oct 2013-JAMA
TL;DR: Targeted heart rates were achieved in all patients in the esmolol group compared with those in the control group and no clinically relevant differences between groups in other cardiopulmonary variables nor in rescue therapy requirements were found.
Abstract: RESULTS Targeted heart rates were achieved in all patients in the esmolol group compared with those in the control group. The median AUC for heart rate during the first 96 hours was −28/min (IQR, −37 to −21) for the esmolol group vs −6/min (95% CI, −14 to 0) for the control group with a mean reduction of 18/min (P < .001). For stroke volume index, the median AUC for esmolol was 4 mL/m 2 (IQR, −1 to 10) vs 1 mL/m 2 for the control group (IQR, −3 to 5; P = .02), whereas the left ventricular stroke work index for esmolol was 3 mL/m 2 (IQR, 0 to 8) vs 1 mL/m 2 for the control group (IQR, −2 to 5; P = .03). For arterial lactatemia, median AUC for esmolol was −0.1 mmol/L (IQR, −0.6 to 0.2) vs 0.1 mmol/L for the control group (IQR, −0.3 for 0.6; P = .007); for norepinephrine, −0.11 μg/kg/min (IQR, −0.46 to 0.02) for the esmolol group vs −0.01 μg/kg/min (IQR, −0.2 to 0.44) for the control group (P = .003). Fluid requirements were reduced in the esmolol group: median AUC was 3975 mL/24 h (IQR, 3663 to 4200) vs 4425 mL/24 h (IQR, 4038 to 4775) for the control group (P < .001). We found no clinically relevant differences between groups in other cardiopulmonary variables nor in rescue therapy requirements. Twenty-eight day mortality was 49.4% in the esmolol group vs 80.5% in the control group (adjusted hazard ratio, 0.39; 95% CI, 0.26 to 0.59; P < .001).

Journal ArticleDOI
TL;DR: In this paper, the authors presented a catalog of 68 galaxy clusters, of which 19 are new discoveries, detected via the Sunyaev-Zel'dovich effect (SZ) at 148 GHz in the Atacama Cosmology Telescope (ACT) survey on the celestial equator.
Abstract: We present a catalog of 68 galaxy clusters, of which 19 are new discoveries, detected via the Sunyaev-Zel'dovich effect (SZ) at 148 GHz in the Atacama Cosmology Telescope (ACT) survey on the celestial equator. With this addition, the ACT collaboration has reported a total of 91 optically confirmed, SZ detected clusters. The 504 square degree survey region includes 270 square degrees of overlap with SDSS Stripe 82, permitting the confirmation of SZ cluster candidates in deep archival optical data. The subsample of 48 clusters within Stripe 82 is estimated to be 90% complete for M{sub 500c} > 4.5 × 10{sup 14}M{sub s}un and redshifts 0.15 < z < 0.8. While a full suite of matched filters is used to detect the clusters, the sample is studied further through a ''Profile Based Amplitude Analysis'' using a statistic derived from a single filter at a fixed θ{sub 500} = 5.'9 angular scale. This new approach incorporates the cluster redshift along with prior information on the cluster pressure profile to fix the relationship between the cluster characteristic size (R{sub 500}) and the integrated Compton parameter (Y{sub 500}). We adopt a one-parameter family of ''Universal Pressure Profiles'' (UPP) with associated scaling laws, derived frommore » X-ray measurements of nearby clusters, as a baseline model. Three additional models of cluster physics are used to investigate a range of scaling relations beyond the UPP prescription. Assuming a concordance cosmology, the UPP scalings are found to be nearly identical to an adiabatic model, while a model incorporating non-thermal pressure better matches dynamical mass measurements and masses from the South Pole Telescope. A high signal to noise ratio subsample of 15 ACT clusters with complete optical follow-up is used to obtain cosmological constraints. We demonstrate, using fixed scaling relations, how the constraints depend on the assumed gas model if only SZ measurements are used, and show that constraints from SZ data are limited by uncertainty in the scaling relation parameters rather than sample size or measurement uncertainty. We next add in seven clusters from the ACT Southern survey, including their dynamical mass measurements, which are based on galaxy velocity dispersions and thus are independent of the gas physics. In combination with WMAP7 these data simultaneously constrain the scaling relation and cosmological parameters, yielding 68% confidence ranges described by σ{sub 8} = 0.829 ± 0.024 and Ω{sub m} = 0.292 ± 0.025.. We consider these results in the context of constraints from CMB and other cluster studies. The constraints arise mainly due to the inclusion of the dynamical mass information and do not require strong priors on the SZ scaling relation parameters. The results include marginalization over a 15% bias in dynamical masses relative to the true halo mass. In an extension to ΛCDM that incorporates non-zero neutrino mass density, we combine our data with WMAP7, Baryon Acoustic Oscillation data, and Hubble constant measurements to constrain the sum of the neutrino mass species to be Σ{sub ν}m{sub ν} < 0.29 eV (95% confidence limit)« less

Journal ArticleDOI
Stig E. Bojesen1, Stig E. Bojesen2, Karen A. Pooley3, Sharon E. Johnatty4  +452 moreInstitutions (129)
TL;DR: Using the Illumina custom genotyping array iCOGs, SNPs at the TERT locus in breast, ovarian and BRCA1 mutation carrier cancer cases and controls and leukocyte telomere measurements are analyzed to find associations cluster into three independent peaks.
Abstract: TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOG, we analyzed similar to 480 SNPs at the TERT locus in breast (n = 103,991), ovarian (n = 39,774) and BRCA1 mutation carrier (n = 11,705) cancer cases and controls. Leukocyte telomere measurements were also available for 53,724 participants. Most associations cluster into three independent peaks. The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 x 10(-7)), lower risks for estrogen receptor (ER)-negative (P = 1.0 x 10(-8)) and BRCA1 mutation carrier (P = 1.1 x 10(-5)) breast cancers and altered promoter assay signal. The minor allele at the peak 2 SNP rs7705526 associates with longer telomeres (P = 2.3 x 10(-14)), higher risk of low-malignant-potential ovarian cancer (P = 1.3 x 10(-15)) and greater promoter activity. The minor alleles at the peak 3 SNPs rs10069690 and rs2242652 increase ER-negative (P = 1.2 x 10(-12)) and BRCA1 mutation carrier (P = 1.6 x 10-14) breast and invasive ovarian (P = 1.3 x 10(-11)) cancer risks but not via altered telomere length. The cancer risk alleles of rs2242652 and rs10069690, respectively, increase silencing and generate a truncated TERT splice variant.

Journal ArticleDOI
16 May 2013-PLOS ONE
TL;DR: The interaction between genotype and Epstein Barr virus emerges as relevant for multiple sclerosis etiology, and also other viruses have a similar potential, though probably less relevant in epidemiological terms.
Abstract: Though difficult, the study of gene-environment interactions in multifactorial diseases is crucial for interpreting the relevance of non-heritable factors and prevents from overlooking genetic associations with small but measurable effects. We propose a "candidate interactome" (i.e. a group of genes whose products are known to physically interact with environmental factors that may be relevant for disease pathogenesis) analysis of genome-wide association data in multiple sclerosis. We looked for statistical enrichment of associations among interactomes that, at the current state of knowledge, may be representative of gene-environment interactions of potential, uncertain or unlikely relevance for multiple sclerosis pathogenesis: Epstein-Barr virus, human immunodeficiency virus, hepatitis B virus, hepatitis C virus, cytomegalovirus, HHV8-Kaposi sarcoma, H1N1-influenza, JC virus, human innate immunity interactome for type I interferon, autoimmune regulator, vitamin D receptor, aryl hydrocarbon receptor and a panel of proteins targeted by 70 innate immune-modulating viral open reading frames from 30 viral species. Interactomes were either obtained from the literature or were manually curated. The P values of all single nucleotide polymorphism mapping to a given interactome were obtained from the last genome-wide association study of the International Multiple Sclerosis Genetics Consortium & the Wellcome Trust Case Control Consortium, 2. The interaction between genotype and Epstein Barr virus emerges as relevant for multiple sclerosis etiology. However, in line with recent data on the coexistence of common and unique strategies used by viruses to perturb the human molecular system, also other viruses have a similar potential, though probably less relevant in epidemiological terms.

Journal ArticleDOI
Georges Aad1, T. Abajyan2, Brad Abbott3, Jalal Abdallah4  +2942 moreInstitutions (200)
TL;DR: In this article, the production properties and couplings of the recently discovered Higgs boson using the decays into boson pairs were measured using the complete pp collision data sample recorded by the ATLAS experiment at the CERN Large Hadron Collider at centre-of-mass energies of 7 TeV and 8 TeV, corresponding to an integrated luminosity of about 25/fb.

Journal ArticleDOI
Georges Aad1, T. Abajyan2, Brad Abbott3, J. Abdallah4  +2897 moreInstitutions (184)
TL;DR: In this article, the luminosity calibration for the ATLAS detector at the LHC during pp collisions at root s = 7 TeV in 2010 and 2011 is presented, and a luminosity uncertainty of delta L/L = +/- 3.5 % is obtained.
Abstract: The luminosity calibration for the ATLAS detector at the LHC during pp collisions at root s = 7 TeV in 2010 and 2011 is presented. Evaluation of the luminosity scale is performed using several luminosity-sensitive detectors, and comparisons are made of the long-term stability and accuracy of this calibration applied to the pp collisions at root s = 7 TeV. A luminosity uncertainty of delta L/L = +/- 3.5 % is obtained for the 47 pb(-1) of data delivered to ATLAS in 2010, and an uncertainty of delta L/L = +/- 1.8 % is obtained for the 5.5 fb(-1) delivered in 2011.

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.

Journal ArticleDOI
28 Feb 2013-Zootaxa
TL;DR: Two new species within the Anopheles gambiae complex are here described and named, based on molecular and bionomical evidence.
Abstract: Two new species within the Anopheles gambiae complex are here described and named. Based on molecular and bionomical evidence, the An. gambiae molecular "M form" is named Anopheles coluzzii Coetzee & Wilkerson sp. n., while the "S form" retains the nominotypical name Anopheles gambiae Giles. Anopheles quadriannulatus is retained for the southern African populations of this species, while the Ethiopian species is named Anopheles amharicus Hunt, Wilkerson & Coetzee sp. n., based on chromosomal, cross-mating and molecular evidence.

Journal ArticleDOI
Jonathan Sievers1, Jonathan Sievers2, Renée Hlozek2, Michael R. Nolta1, Viviana Acquaviva3, Graeme E. Addison4, Graeme E. Addison5, Peter A. R. Ade6, Paula Aguirre7, Mandana Amiri5, John W. Appel2, L. Felipe Barrientos7, Elia S. Battistelli5, Elia S. Battistelli8, Nick Battaglia1, Nick Battaglia9, J. Richard Bond1, Ben Brown10, B. Burger5, Erminia Calabrese4, Jay Chervenak11, Devin Crichton12, Sudeep Das13, Sudeep Das14, Mark J. Devlin15, Simon Dicker15, W. Bertrand Doriese16, Joanna Dunkley4, Rolando Dünner7, Thomas Essinger-Hileman2, David Faber2, R. P. Fisher2, Joseph W. Fowler2, Joseph W. Fowler16, Patricio A. Gallardo7, Michael S. Gordon2, Megan Gralla12, Amir Hajian1, Amir Hajian2, Mark Halpern5, Matthew Hasselfield2, Matthew Hasselfield5, Carlos Hernández-Monteagudo17, J. Colin Hill2, Gene C. Hilton16, Matt Hilton18, Matt Hilton19, Adam D. Hincks1, Adam D. Hincks2, Dave Holtz2, Kevin M. Huffenberger20, David H. Hughes21, John P. Hughes22, Leopoldo Infante7, Kent D. Irwin16, David Jacobson15, Brittany Johnstone23, Jean Baptiste Juin7, Madhuri Kaul15, Jeff Klein15, Arthur Kosowsky10, Judy M. Lau2, Michele Limon2, Michele Limon24, Michele Limon15, Yen-Ting Lin25, Yen-Ting Lin2, Yen-Ting Lin26, Thibaut Louis4, Robert H. Lupton2, Tobias A. Marriage12, Tobias A. Marriage2, Danica Marsden15, Danica Marsden27, Krista Martocci2, Philip Daniel Mauskopf6, Philip Daniel Mauskopf28, Michael R. McLaren15, Felipe Menanteau22, Kavilan Moodley18, Harvey Moseley11, Calvin B. Netterfield1, Michael D. Niemack29, Michael D. Niemack16, Michael D. Niemack2, Lyman A. Page2, William A. Page2, Lucas Parker2, Bruce Partridge30, Reed Plimpton15, Hernan Quintana7, Erik D. Reese15, Beth Reid2, Felipe Rojas7, Neelima Sehgal31, Neelima Sehgal2, Blake D. Sherwin2, Benjamin L. Schmitt15, David N. Spergel2, Suzanne T. Staggs2, O. R. Stryzak2, Daniel S. Swetz15, Daniel S. Swetz16, Eric R. Switzer2, Eric R. Switzer1, Robert Thornton15, Robert Thornton23, Hy Trac9, Carole Tucker6, Masao Uehara2, Katerina Visnjic2, Ryan Warne18, Grant W. Wilson32, Edward J. Wollack11, Yue Zhao2, Caroline Zunckel18 
TL;DR: In this article, a model of primary cosmological and secondary foreground parameters is fit to the map power spectra and lensing deflection power spectrum, including contributions from both the thermal Sunyaev-Zeldovich (tSZ) effect and the kinematic SZ effect, Poisson and correlated anisotropy from unresolved infrared sources, radio sources and the correlation between the tSZ effect and infrared sources.
Abstract: We present constraints on cosmological and astrophysical parameters from high-resolution microwave background maps at 148 GHz and 218 GHz made by the Atacama Cosmology Telescope (ACT) in three seasons of observations from 2008 to 2010. A model of primary cosmological and secondary foreground parameters is fit to the map power spectra and lensing deflection power spectrum, including contributions from both the thermal Sunyaev-Zeldovich (tSZ) effect and the kinematic Sunyaev-Zeldovich (kSZ) effect, Poisson and correlated anisotropy from unresolved infrared sources, radio sources, and the correlation between the tSZ effect and infrared sources. The power l2Cl/2π of the thermal SZ power spectrum at 148 GHz is measured to be 3.4±1.4 μK2 at l = 3000, while the corresponding amplitude of the kinematic SZ power spectrum has a 95% confidence level upper limit of 8.6 μK2. Combining ACT power spectra with the WMAP 7-year temperature and polarization power spectra, we find excellent consistency with the LCDM model. We constrain the number of effective relativistic degrees of freedom in the early universe to be Neff = 2.79±0.56, in agreement with the canonical value of Neff = 3.046 for three massless neutrinos. We constrain the sum of the neutrino masses to be Σmν < 0.39 eV at 95% confidence when combining ACT and WMAP 7-year data with BAO and Hubble constant measurements. We constrain the amount of primordial helium to be Yp = 0.225±0.034, and measure no variation in the fine structure constant α since recombination, with α/α0 = 1.004±0.005. We also find no evidence for any running of the scalar spectral index, dns/dln k = −0.004±0.012.

Journal ArticleDOI
TL;DR: In this article, the interplay between the Anderson localization mechanism and the bosonic/fermionic symmetry of the wave function was investigated for a discrete quantum walk affected by position-dependent disorder.
Abstract: Researchers observe Anderson localization for pairs of polarization-entangled photons in a discrete quantum walk affected by position-dependent disorder. By exploiting polarization entanglement of photons to simulate different quantum statistics, they experimentally investigate the interplay between the Anderson localization mechanism and the bosonic/fermionic symmetry of the wave function.