2,887 research outputs found
Genetic landscape of autism spectrum disorder in Vietnamese children
Autism spectrum disorder (ASD) is a complex disorder with an unclear aetiology and an estimated global prevalence of 1%. However, studies of ASD in the Vietnamese population are limited. Here, we first conducted whole exome sequencing (WES) of 100 children with ASD and their unaffected parents. Our stringent analysis pipeline was able to detect 18 unique variants (8 de novo and 10 ×-linked, all validated), including 12 newly discovered variants. Interestingly, a notable number of X-linked variants were detected (56%), and all of them were found in affected males but not in affected females. We uncovered 17 genes from our ASD cohort in which CHD8, DYRK1A, GRIN2B, SCN2A, OFD1 and MDB5 have been previously identified as ASD risk genes, suggesting the universal aetiology of ASD for these genes. In addition, we identified six genes that have not been previously reported in any autism database: CHM, ENPP1, IGF1, LAS1L, SYP and TBX22. Gene ontology and phenotype-genotype analysis suggested that variants in IGF1, SYP and LAS1L could plausibly confer risk for ASD. Taken together, this study adds to the genetic heterogeneity of ASD and is the first report elucidating the genetic landscape of ASD in Vietnamese children
Exoplanet Terra Incognita
Exoplanet surface imaging, cartography and the search for exolife are the
next frontiers of planetology and astrophysics. Here we present an over-view of
ideas and techniques to resolve albedo features on exoplanetary surfaces.
Albedo maps obtained in various spectral bands (similar to true-colour images)
may reveal exoplanet terrains, geological history, life colonies, and even
artificial structures of advanced civilizations.Comment: 16 pages, 6 figures, Planetary Cartograph
Neutron Stars in Teleparallel Gravity
In this paper we deal with neutron stars, which are described by a perfect
fluid model, in the context of the teleparallel equivalent of general
relativity. We use numerical simulations to find the relationship between the
angular momentum of the field and the angular momentum of the source. Such a
relation was established for each stable star reached by the numerical
simulation once the code is fed with an equation of state, the central energy
density and the ratio between polar and equatorial radii. We also find a regime
where linear relation between gravitational angular momentum and moment of
inertia (as well as angular velocity of the fluid) is valid. We give the
spatial distribution of the gravitational energy and show that it has a linear
dependence with the squared angular velocity of the source.Comment: 19 pages, 14 figures. arXiv admin note: text overlap with
arXiv:1206.331
Multiplicity Distributions and Charged-neutral Fluctuations
Results from the multiplicity distributions of inclusive photons and charged
particles, scaling of particle multiplicities, event-by-event multiplicity
fluctuations, and charged-neutral fluctuations in 158 GeV Pb+Pb
collisions are presented and discussed. A scaling of charged particle
multiplicity as and photons as have been observed, indicating violation of naive wounded nucleon model.
The analysis of localized charged-neutral fluctuation indicates a
model-independent demonstration of non-statistical fluctuations in both charged
particles and photons in limited azimuthal regions. However, no correlated
charged-neutral fluctuations are observed.Comment: Talk given at the International Symposium on Nuclear Physics
(ISNP-2000), Mumbai, India, 18-22 Dec 2000, Proceedings to be published in
Pramana, Journal of Physic
Nekrasov Functions and Exact Bohr-Sommerfeld Integrals
In the case of SU(2), associated by the AGT relation to the 2d Liouville
theory, the Seiberg-Witten prepotential is constructed from the Bohr-Sommerfeld
periods of 1d sine-Gordon model. If the same construction is literally applied
to monodromies of exact wave functions, the prepotential turns into the
one-parametric Nekrasov prepotential F(a,\epsilon_1) with the other epsilon
parameter vanishing, \epsilon_2=0, and \epsilon_1 playing the role of the
Planck constant in the sine-Gordon Shroedinger equation, \hbar=\epsilon_1. This
seems to be in accordance with the recent claim in arXiv:0908.4052 and poses a
problem of describing the full Nekrasov function as a seemingly straightforward
double-parametric quantization of sine-Gordon model. This also provides a new
link between the Liouville and sine-Gordon theories.Comment: 10 page
Search For Heavy Pointlike Dirac Monopoles
We have searched for central production of a pair of photons with high
transverse energies in collisions at TeV using of data collected with the D\O detector at the Fermilab Tevatron in
1994--1996. If they exist, virtual heavy pointlike Dirac monopoles could
rescatter pairs of nearly real photons into this final state via a box diagram.
We observe no excess of events above background, and set lower 95% C.L. limits
of on the mass of a spin 0, 1/2, or 1 Dirac
monopole.Comment: 12 pages, 4 figure
Search for High Mass Photon Pairs in p-pbar --> gamma-gamma-jet-jet Events at sqrt(s)=1.8 TeV
A search has been carried out for events in the channel p-barp --> gamma
gamma jet jet. Such a signature can characterize the production of a
non-standard Higgs boson together with a W or Z boson. We refer to this
non-standard Higgs, having standard model couplings to vector bosons but no
coupling to fermions, as a "bosonic Higgs." With the requirement of two high
transverse energy photons and two jets, the diphoton mass (m(gamma gamma))
distribution is consistent with expected background. A 90(95)% C.L. upper limit
on the cross section as a function of mass is calculated, ranging from
0.60(0.80) pb for m(gamma gamma) = 65 GeV/c^2 to 0.26(0.34) pb for m(gamma
gamma) = 150 GeV/c^2, corresponding to a 95% C.L. lower limit on the mass of a
bosonic Higgs of 78.5 GeV/c^2.Comment: 9 pages, 3 figures. Replacement has new H->gamma gamma branching
ratios and corresponding new mass limit
Ratio of the Isolated Photon Cross Sections at \sqrt{s} = 630 and 1800 GeV
The inclusive cross section for production of isolated photons has been
measured in \pbarp collisions at GeV with the \D0 detector at
the Fermilab Tevatron Collider. The photons span a transverse energy ()
range from 7-49 GeV and have pseudorapidity . This measurement is
combined with to previous \D0 result at GeV to form a ratio
of the cross sections. Comparison of next-to-leading order QCD with the
measured cross section at 630 GeV and ratio of cross sections show satisfactory
agreement in most of the range.Comment: 7 pages. Published in Phys. Rev. Lett. 87, 251805, (2001
Circumstellar disks and planets. Science cases for next-generation optical/infrared long-baseline interferometers
We present a review of the interplay between the evolution of circumstellar
disks and the formation of planets, both from the perspective of theoretical
models and dedicated observations. Based on this, we identify and discuss
fundamental questions concerning the formation and evolution of circumstellar
disks and planets which can be addressed in the near future with optical and
infrared long-baseline interferometers. Furthermore, the importance of
complementary observations with long-baseline (sub)millimeter interferometers
and high-sensitivity infrared observatories is outlined.Comment: 83 pages; Accepted for publication in "Astronomy and Astrophysics
Review"; The final publication is available at http://www.springerlink.co
Search for new phenomena in final states with an energetic jet and large missing transverse momentum in pp collisions at √ s = 8 TeV with the ATLAS detector
Results of a search for new phenomena in final states with an energetic jet and large missing transverse momentum are reported. The search uses 20.3 fb−1 of √ s = 8 TeV data collected in 2012 with the ATLAS detector at the LHC. Events are required to have at least one jet with pT > 120 GeV and no leptons. Nine signal regions are considered with increasing missing transverse momentum requirements between Emiss T > 150 GeV and Emiss T > 700 GeV. Good agreement is observed between the number of events in data and Standard Model expectations. The results are translated into exclusion limits on models with either large extra spatial dimensions, pair production of weakly interacting dark matter candidates, or production of very light gravitinos in a gauge-mediated supersymmetric model. In addition, limits on the production of an invisibly decaying Higgs-like boson leading to similar topologies in the final state are presente
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