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Sample records for large q2 electrodisintegration

  1. Deuteron threshold electrodisintegration at high momentum transfer

    International Nuclear Information System (INIS)

    Schmitt, W.M.; Turchinetz, W.; Williamson, C.F.

    1997-01-01

    Absolute differential cross sections for the threshold electrodisintegration of the deuteron with good resolution were measured at a laboratory scattering angle of 160 degree for five values of Q 2 ranging from 8.66 to 42.4 fm -2 . Comparisons of the data averaged over E np from 0--3 MeV and 0--10 MeV are made with nonrelativistic meson-exchange calculations. These calculations are sensitive to the nucleon electromagnetic form factors, nucleon-nucleon potential, and relativistic effects. The data are also compared with a hybrid quark-hadron model calculation that describes the deuteron as a six-quark cluster for the short range part of the interaction. Some of these calculations can describe the data reasonably well over certain ranges of Q 2 ; however, none of these calculations can accurately describe the data over the entire measured Q 2 range

  2. Deuteron threshold electrodisintegration at high momentum transfer

    International Nuclear Information System (INIS)

    Schmitt, W.M.; Turchinetz, W.; Williamson, C.F.; Yates, T.C.; Zumbro, J.D.; Lee, K.S.; Baghaei, H.; Churchwell, S.; Hicks, R.S.; Miskimen, R.; Peterson, G.A.; Wang, K.; Bosted, P.E.; Spengos, M.; Frois, B.; Martino, J.; Platchkov, S.; Hotta, A.

    1997-01-01

    Absolute differential cross sections for the threshold electrodisintegration of the deuteron with good resolution were measured at a laboratory scattering angle of 160 degree for five values of Q 2 ranging from 8.66 to 42.4fm -2 . Comparisons of the data averaged over E np from 0 to 3 MeV and from 0 to 10 MeV are made with nonrelativistic meson exchange calculations. These calculations are sensitive to the nucleon electromagnetic form factors, nucleon-nucleon potential, and relativistic effects. The data are also compared with a hybrid quark-hadron model calculation that describes the deuteron as a six-quark cluster for the short range part of the interaction. Some of these calculations can describe the data reasonably well over certain ranges of Q 2 ; however, none of these calculations can accurately describe the data over the entire measured Q 2 range. copyright 1997 The American Physical Society

  3. Total cross section results for deuterium electrodisintegration

    International Nuclear Information System (INIS)

    Skopik, D.M.; Murphy, J.J. II; Shin, Y.M.

    1976-01-01

    Theoretical total cross sections for deuterium electrodisintegration are presented as a function of incident electron energy. The cross section has been calculated using virtual photon theory with Partovi's photodisintegration calculation for E/subx/ > 10 MeV and effective range theory for E/subx/ 2 H(e, n) reaction in Tokamak reactors

  4. Scale dependence of deuteron electrodisintegration

    Science.gov (United States)

    More, S. N.; Bogner, S. K.; Furnstahl, R. J.

    2017-11-01

    Background: Isolating nuclear structure properties from knock-out reactions in a process-independent manner requires a controlled factorization, which is always to some degree scale and scheme dependent. Understanding this dependence is important for robust extractions from experiment, to correctly use the structure information in other processes, and to understand the impact of approximations for both. Purpose: We seek insight into scale dependence by exploring a model calculation of deuteron electrodisintegration, which provides a simple and clean theoretical laboratory. Methods: By considering various kinematic regions of the longitudinal structure function, we can examine how the components—the initial deuteron wave function, the current operator, and the final-state interactions (FSIs)—combine at different scales. We use the similarity renormalization group to evolve each component. Results: When evolved to different resolutions, the ingredients are all modified, but how they combine depends strongly on the kinematic region. In some regions, for example, the FSIs are largely unaffected by evolution, while elsewhere FSIs are greatly reduced. For certain kinematics, the impulse approximation at a high renormalization group resolution gives an intuitive picture in terms of a one-body current breaking up a short-range correlated neutron-proton pair, although FSIs distort this simple picture. With evolution to low resolution, however, the cross section is unchanged but a very different and arguably simpler intuitive picture emerges, with the evolved current efficiently represented at low momentum through derivative expansions or low-rank singular value decompositions. Conclusions: The underlying physics of deuteron electrodisintegration is scale dependent and not just kinematics dependent. As a result, intuition about physics such as the role of short-range correlations or D -state mixing in particular kinematic regimes can be strongly scale dependent

  5. Three-body calculation of two-body threshold electrodisintegration of 3He and 3H

    International Nuclear Information System (INIS)

    Heimbach, C.R.; Lehman, D.R.; O'Connell, J.S.

    1977-01-01

    Threshold two-body electrodisintegration of 3 He and 3 H is investigated within the context of exact three-body theory. The calculations performed are based on the formalism of Gibson and Lehman. Careful consideration is given to the singularities of the disintegration Born amplitude for this case, since the momentum transfer is not zero, to assure validity of the numerical methods. Calculated results are compared with all the latest threshold 3 He electrodisintegration data which samples a range of scattered-electron angles, 92.6 0 0 , and incident electron energies, 40 MeV 0 3 H electrodisintegration for some of the same kinematics. The mechanism for the sharp rise as a function of excitation energy in the (e,e') cross section for theta/sub e/ approx. 90 0 due to the 2 S → 2 S monopole transition from Coulomb scattering is singled out by examination of the contributions to the Coulomb doublet amplitude. A similar analysis is carried out for the doublet and quartet transverse amplitudes where the 2 S → 4 P magnetic quadrupole transition dominates for excitation energies less than 20 MeV

  6. Deuterium electrodisintegration at high recoil momentum

    International Nuclear Information System (INIS)

    Steenholen, G.

    1996-01-01

    The availability of continuous electron beams made it possible to carry out various deuterium electro-disintegration experiments in kinematical domains corresponding to a high recoil momentum. Three such experiments are discussed: 1) the left-right asymmetry with respect to the direction of the momentum transfer has been measured with good precision; 2) cross sections have been obtained in a kinematical region well above the quasi-elastic peak; 3) data have been taken in quasi-elastic kinematics that can be used to study high-momentum components in the deuterium wave function [ru

  7. The photon structure function at large Q2

    International Nuclear Information System (INIS)

    Cordier, A.

    1987-01-01

    LEP II offers the unique opportunity to measure the photon structure function over a large Q 2 range up to ∼ 2000 GeV 2 . Two crucial predictions of QCD can be tested in this experiment: the linear rise in log Q 2 as a consequence of asymptotic freedom, and the large renormalization O(1) of the shape of the structure function due to gluon bremsstrahlung, unperturbed by higher-twist effects

  8. Deuteron electrofission in forward direction at a four-momentum transfer of Q2=0.12 (GeV/c)2

    International Nuclear Information System (INIS)

    Boden, B.

    1990-12-01

    The deuteron electrodisintegration has been performed as the first experiment at the new Bonn 3.5 GeV high duty-cycle electron accelerator ELSA (Electron Stretcher and Accelerator). The cross section was measured in the region of the Δ(1232) resonance excitation at four-momentum-transfer of Q 2 = 0.12 (GeV/c) 2 . An enhancement of the cross section has been observed at the mass of the NΔ system(W = 2.19 GeV) at each of the three hadron spectrometer angles Θ p LAB = 44 0 , 56 0 , 68 0 ) which were set. The results are compared with theoretical calculations. (orig.) [de

  9. Electrodisintegration of the deuteron near threshold with allowance for meson exchange currents. Retardation effects

    International Nuclear Information System (INIS)

    Burov, V.V.; Sus'kov, S.Eh.

    1992-01-01

    The electrodisintegration of the deuteron near threshold with allowance for retardation effects in meson exchange currents (MEC) has been investigated depending on vertex form factors and cut-off parameters. It is shown that the retardation effects should be taken into account in MEC at large transfer momenta (t>12 fm -2 ). It is found for the differential cross section that the contribution of MEC is strongly dependent on the vertex form factors and cut-off parameters. The role of p-meson contribution in MEC with allowance for retardation effects has been investigated. It is shown that the inclusion of retardation effects leads to the decrease of the p-meson influence at large transfer momenta. The radial dependence of the matrix elements with allowance for retardation effects has been studied. It was shown that the inclusion of meson exchange currents is essentially important in the range of r=1-1.5 fm when t -2 . 34 refs.; 12 figs

  10. The electrodisintegration of the deuteron reaction at high four-momentum transfer

    Science.gov (United States)

    Ibrahim, Hassan F.

    This dissertation presents the highest four-momentum transfer, Q2, quasielastic (xBj = 1) results from Experiment E01-020 which systematically explored the 2H(e, e'p)n reaction ("Electro-disintegration" of the deuteron) at three different four-momentum transfers, Q 2 = 0.8, 2.1, and 3.5 GeV2 and missing momenta, pmiss = 0, 100, 200, 300, 400, and 500 GeV including separations of the longitudinal-transverse interference response function, RLT, and extraction of the longitudinal-transverse asymmetry, ALT. This systematic approach will help to understand the reaction mechanism and the deuteron structure down to the short range part of the nucleon-nucleon interaction which is one of the fundamental missions of nuclear physics. By studying the very short distance structure of the deuteron, one may also determine whether or to what extent the description of nuclei in terms of nucleon/meson degrees of freedom must be supplemented by inclusion of explicit quark effects. The unique combination of energy, current, duty factor, and control of systematics for Hall A at Jefferson Lab made Jefferson Lab the only facility in the world where these systematic studies of the deuteron can be undertaken. This is especially true when we want to understand the short range structure of the deuteron where high energies and high luminosity/duty factor are needed. All these features of Jefferson Lab allow us to examine large missing momenta (short range scales) at kinematics where the effects of final state interactions (FSI), meson exchange currents (MEC), and isobar currents (IC) are minimal, making the extraction of the deuteron structure less model-dependent. Jefferson Lab also provides the kinematical flexibility to perform the separation of RLT over a broad range of missing momenta and momentum transfers. Experiment E01-020 used the standard Hall A equipment in coincidence configuration in addition to the cryogenic target system. The low and middle Q2 kinematics were completed in June

  11. Hunting Down Interpretations of the HERA Large-$Q^{2}$ data

    CERN Document Server

    Ellis, John R.

    1999-01-01

    Possible interpretations of the HERA large-Q^2 data are reviewed briefly. The possibility of statistical fluctuations cannot be ruled out, and it seems premature to argue that the H1 and ZEUS anomalies are incompatible. The data cannot be explained away by modifications of parton distributions, nor do contact interactions help. A leptoquark interpretation would need a large tau-q branching ratio. Several R-violating squark interpretations are still viable despite all the constraints, and offer interesting experimental signatures, but please do not hold your breath.

  12. Higher twist contributions to the structure functions Fp2(x,Q2) and Fd2(x,Q2) at large x at higher orders

    International Nuclear Information System (INIS)

    Bluemlein, J.; Boettcher, H.

    2008-02-01

    The higher twist contributions to the deeply inelastic structure functions F p 2 (x,Q 2 ) and F d 2 (x,Q 2 ) for larger values of the Bjorken variable x are extracted extrapolating the twist-2 contributions measured in the large W 2 region to the region 4 GeV 2 ≤W 2 ≤12.5 GeV 2 applying target mass corrections. We compare the results for the NLO, NNLO and N 3 LO analyzes and include also the large x at N 4 LO to the Wilson coefficients. A gradual lowering of the higher twist contributions going from NLO to N 4 LO is observed, which stresses the importance of higher order corrections. (orig.)

  13. Electrodisintegration of relativistic nuclei by a periodic crystal field in channeling

    International Nuclear Information System (INIS)

    Pivovarov, Yu.L.; Vorob'ev, S.A.

    1981-01-01

    Processes on channeled relativistic nuclei with transition into a continuous spectrum (electrodisintegration of nuclei with emission of neutron, proton, photon and etc.) are considered. A case of plane channeling is considered. The equivalent photon method is used for calculating the disintegration cross section. The beryllium disintegration cross section in the system of tungsten crystal (100) planes is calculated. At the γ=10 2 Lorentz factor the cross section value is 5.27 mb. The process considered is of interest from the viewpoint of production of monoenergy neutrons of high energies and γ quanta of excited nuclei. The channeling effect gives the possibility to study electromagnetic interactions of relativistic nuclei under suppre--ssion conditions of the nuclear interaction channel [ru

  14. General formulae for polarization observables in deuteron electrodisintegration and linear relations

    International Nuclear Information System (INIS)

    Arenhoevel, H.; Leidemann, W.; Tomusiak, E.L.

    1993-01-01

    Formal expressions are derived for all possible polarization observables in deuteron electrodisintegration with longitudinally polarized incoming electrons, oriented deuteron targets and polarization analysis of outgoing nucleons. They are given in terms of general structure functions which can be determined experimentally. These structure functions are Hermitean forms of the T-matrix elements which, in principle, allow the determination of all T-matrix elements up to an arbitrary common phase. Since the set of structure functions is overcomplete, linear relations among various structure functions exist which are derived explicitly

  15. Electrodisintegration of 232Th by neutron emission

    International Nuclear Information System (INIS)

    Terremoto, L.A.A.

    1986-01-01

    The one neutron decay of the giant electric quadrupole resonance was studied by means of electrodisintegration and photodisintegration reactions. The separation of the multipole components of the photonuclear cross section σ γ,n (E) in 232 90 Th was also performed. The 232 Th(e,n) 231 Th cross section and the 232 Th(B,n) 231 Th bremsstrahlung yield were measured in the incident electron energy range 8-60 MeV and 25-60 MeV, respectively. These measurements have been performed using the electron beam of the Linear Accelerator of the IFUSP and the experimental technique of activation analysis. The virtual photon spectra corrected for nuclear finite size in the analysis of the experimental data obtained in order to separate the multipole components of the photonuclear cross section, was used. An electric dipole component σ EL γ,n (E) that exhausts (60+-7)% of the El sum rule (integrated uσ to 16,5 MeV) was shown. This result is in agreement with the one Obtained in experiments where monoenergetic photons were used. An electric quadrupole component σ E2 γ,n (E) whose value corresponds to (32+-6)% of the E2 sum rule, was also obtained. (author) [pt

  16. Clinical, Molecular, and Prognostic Significance of WHO Type inv(3)(q21q26.2)/t(3;3)(q21;q26.2) and Various Other 3q Abnormalities in Acute Myeloid Leukemia

    NARCIS (Netherlands)

    Lugthart, Sanne; Groschel, Stefan; Beverloo, H. Berna; Kayser, Sabine; Valk, Peter J. M.; van Zelderen-Bhola, Shama Lydia; Ossenkoppele, Gert Jan; Vellenga, Edo; van den Berg-de Ruiter, Eva; Schanz, Urs; Verhoef, Gregor; Vandenberghe, Peter; Ferrant, Augustin; Kohne, Claus-Henning; Pfreundschuh, Michael; Horst, Heinz A.; Koller, Elisabeth; von Lilienfeld-Toal, Marie; Bentz, Martin; Ganser, Arnold; Schlegelberger, Brigitte; Jotterand, Martine; Krauter, Jurgen; Pabst, Thomas; Theobald, Matthias; Schlenk, Richard F.; Delwel, Ruud; Dohner, Konstanze; Lowenberg, Bob; Doehner, Hartmut

    2010-01-01

    Purpose Acute myeloid leukemia (AML) with inv(3)(q21q26.2)/t(3; 3)(q21; q26.2) inv(3)/t(3; 3)] is recognized as a distinctive entity in the WHO classification. Risk assignment and clinical and genetic characterization of AML with chromosome 3q abnormalities other than inv(3)/t(3; 3) remain largely

  17. A Measurement of Nuclear Structure Functions in the Large $X$ Large $Q^{2}$ Kinematic Region in Neutrino Deep Inelastic Scattering

    Energy Technology Data Exchange (ETDEWEB)

    Vakili, Masoud [Cincinnati U.

    1997-01-01

    Data from the CCFR E770 Neutrino Deep Inelastic Scatter- ing (DIS) experiment at Fermilab contain large Bjorken x, high $Q^2$ events. A comparison of the data with a model, based on no nuclear effects at large $x$, shows an excess of events in the data. Addition of Fermi gas motion of the nucleons in the nucleus to the model does not explain the model's deficit. Adding higher momentum tail due to the formation of "quasi-deuterons" makes the agreement better. Certain models based on "multi- quark clusters" and "few-nucleon correlations" predict an exponentially falling behavior for $F_2$ as $F_2 \\sim e^{s(x -x_0)}$ at large $x$. We measure a $s$ = 8.3 $\\pm$ 0.8 for the best fit to our data. This corresponds to a value of $F_2$($x = 1, Q^2 > 50) \\approx 2$ x $10^{-3}$ in neutrino DIS. These values agree with results from theoretical models and the $SLAC$ $E133$ experiment but seem to be different from the result of the BCDMS experiment

  18. Photo- and electro-disintegration of the deuteron in the GeV range

    International Nuclear Information System (INIS)

    Kang, Y.

    1991-12-01

    The process γ (*) d→pn is investigated up to photon lab.-energies of 1.6 GeV in a relativistic covariant approach based on conventional quantum field theory. Using effective lagrangians for the hadron interactions we have applied consequently the method of Feynman graphs to approximate the dynamics of deuteron photo- and electro-disintegration. It is demonstrated that in the considered energy region the relativistic structure of the dNN-vertex, the usually neglected offshell effects and the contributions of the higher nucleon resonances play a significant role. A central point in our calculations is the treatment of Feynman box diagrams where the exchange of π-, ρ-, ω- and η-meson and all nucleon- and delta-resonances of the data booklet with mass m * [de

  19. Higher twist contributions to the structure functions F{sub 2}(x, Q{sup 2}) and g{sub 2}(x, Q{sup 2})

    Energy Technology Data Exchange (ETDEWEB)

    Bluemlein, Johannes; Boettcher, Helmut

    2012-07-15

    We report on recent results on higher twist contributions to the unpolarized structure functions F{sup p,d}{sub 2}(x,Q{sup 2}) at N{sup 3}LO in the large x region and constraints on the twist-3 contribution to polarized structure function g{sub 2}(x,Q{sup 2}).

  20. Topics in theoretical physics

    International Nuclear Information System (INIS)

    1990-01-01

    This report discusses: covariant, chirally symmetric, confining model of mesons; polarization observables in deuteron photo and electrodisintegration; undetermining the pion form factor at high Q 2 ; and model solutions of regularized relativistic transport equations

  1. Exclusive production of pion pairs in γ*γ collisions at Large Q2

    International Nuclear Information System (INIS)

    Diehl, M.

    2000-01-01

    The authors perform a QCD analysis of the exclusive production of two mesons in γ*γ collisions in the kinematical domain of large photon virtuality Q and small hadronic invariant mass W. This reaction is dominated by a scale invariant mechanism which factorizes into a perturbative subprocess, γ*γ -> q anti q or γ*γ -> gg, and a generalized two-meson distribution amplitude. The authors develop in detail the phenomenology of this process at e + e - colliders. Using a simple model for the two-pion distribution amplitude, based on its general properties, the authors estimate the cross section for the kinematics accessible at BABAR, BELLE, CLEO and LEP

  2. Exclusive production of pion pairs in {gamma}*{gamma} collisions at Large Q{sup 2}

    Energy Technology Data Exchange (ETDEWEB)

    Diehl, M.

    2000-03-15

    The authors perform a QCD analysis of the exclusive production of two mesons in {gamma}*{gamma} collisions in the kinematical domain of large photon virtuality Q and small hadronic invariant mass W. This reaction is dominated by a scale invariant mechanism which factorizes into a perturbative subprocess, {gamma}*{gamma} {r{underscore}arrow} q{anti q} or {gamma}*{gamma} {r{underscore}arrow} gg, and a generalized two-meson distribution amplitude. The authors develop in detail the phenomenology of this process at e{sup +}e{sup {minus}} colliders. Using a simple model for the two-pion distribution amplitude, based on its general properties, the authors estimate the cross section for the kinematics accessible at BABAR, BELLE, CLEO and LEP.

  3. Large-q correlations from a Hubble-type pion source

    International Nuclear Information System (INIS)

    Barghouty, A.F.; Miller, J.; Frankel, K.A.

    1993-01-01

    In two-pion correlation measurements from relativistic nuclear collisions, the correlation function, C 2 (q), appears to exhibit an oscillatory structure at large (q ≥100 MeV/c) relative momentum. If real, this structure may have consequences for the determination of the space-time extent of the pion source. A qualitatively similar feature is seen in cellular automaton simulations of a Lorentz gas. It has been argued phenomenologically that the q-dependent oscillations can arise from an interplay between successive scattering probabilities and density variations of an exploding pion source. To further illustrate this interplay we consider a Hubble-type free expansion model for the source in which the density is time-folded from an initial Gaussian. This allows the source expansion to enter as a dynamical variable in the source density p[r(t); t] and thus C 2 , along with any signature of the interplay between scattering and source density

  4. N*(1535) electroproduction at high Q2

    Energy Technology Data Exchange (ETDEWEB)

    G. Ramalho, M.T. Pena, K. Tsushima

    2012-04-01

    A covariant spectator quark model is applied to study the {gamma}N {yields} N*(1535) reaction in the large Q{sup 2} region. Starting from the relation between the nucleon and N*(1535) systems, the N*(1535) valence quark wave function is determined without the addition of any parameters. The model is then used to calculate the {gamma}N {yields} N*(1535) transition form factors. A very interesting, useful relation between the A{sub 1/2} and S{sub 1/2} helicity amplitudes for Q{sup 2} > GeV{sup 2}, is also derived.

  5. Two-dimensional Potts antiferromagnets with a phase transition at arbitrarily large q

    Czech Academy of Sciences Publication Activity Database

    Huang, Y.; Chen, K.; Deng, Y.; Jacobsen, J. L.; Kotecký, R.; Salas, J.; Sokal, Alan D.; Swart, Jan M.

    2013-01-01

    Roč. 87, Č. 1 (2013), 12136-1-12136-5 ISSN 1539-3755 R&D Projects: GA ČR GAP201/12/2613 Institutional support: RVO:67985556 Keywords : Monte Carlo simulation * two-dimensional lattices * q-state Potts Subject RIV: BE - Theoretical Physics Impact factor: 2.326, year: 2013 http://library.utia.cas.cz/separaty/2013/SI/swart-two-dimensional potts antiferromagnets with a phase transition at arbitrarily large q.pdf

  6. Analytic derivation of the leading-order gluon distribution function G(x,Q2)=xg(x,Q2) from the proton structure function F2p(x,Q2)

    International Nuclear Information System (INIS)

    Block, Martin M.; Durand, Loyal; McKay, Douglas W.

    2008-01-01

    We derive a second-order linear differential equation for the leading-order gluon distribution function G(x,Q 2 )=xg(x,Q 2 ) which determines G(x,Q 2 ) directly from the proton structure function F 2 p (x,Q 2 ). This equation is derived from the leading-order evolution equation for F 2 p (x,Q 2 ), and does not require knowledge of either the individual quark distributions or the gluon evolution equation. Given an analytic expression that successfully reproduces the known experimental data for F 2 p (x,Q 2 ) in a domain x min (Q 2 )≤x≤x max (Q 2 ), Q min 2Q 2Q max 2 of the Bjorken variable x and the virtuality Q 2 in deep inelastic scattering, G(x,Q 2 ) is uniquely determined in the same domain. We give the general solution and illustrate the method using the recently proposed Froissart-bound-type parametrization of F 2 p (x,Q 2 ) of E. L. Berger, M. M. Block and C.-I. Tan [Phys. Rev. Lett. 98, 242001 (2007)]. Existing leading-order gluon distributions based on power-law descriptions of individual parton distributions agree roughly with the new distributions for x > or approx. 10 -3 as they should, but are much larger for x -3 .

  7. Q2 anti Q2 states with relatively narrow widths

    International Nuclear Information System (INIS)

    Ono, Seiji.

    1978-09-01

    Using the mass formulas which correctly predict the mass of mesons and baryons the mass of diquark states is computed. From this mass spectrum the existance of the observed narrow baryonia and wide baryonia can be naturally understood. Other relatively narrow Q 2 anti Q 2 states are predicted to exist. (orig.) [de

  8. Influence of Alkali Metal Substitution on the Phase Transition Behavior of CsGaQ2 (Q = S, Se

    Directory of Open Access Journals (Sweden)

    Daniel Friedrich

    2017-12-01

    Full Text Available The formation of solid solution series Cs1−xMxGaQ2-mC64 (M = K, Rb; Q = S, Se; x = 0–1 was studied by X-ray diffraction and spectroscopic methods, revealing a complete miscibility of CsGaQ2-mC64 with RbGaQ2 and KGaSe2, and a large miscibility gap with KGaS2. All solid solution members exhibit similar Raman spectra, indicating the covalent Ga-Q bonding character. The similar optical band gaps likewise further contribute to this conclusion. Up to a certain degree of substitution, these solid solutions undergo a phase transition similar to CsGaQ2-mC64. The influence of the substitution parameter x on phase transition process was investigated in situ using high-temperature X-ray powder diffraction experiments. Phase-pure solid solutions of the high-temperature polymorphs Cs1−xMxGaQ2-mC16 were obtained up to xmax(K = 0.1 and xmax(Rb = 0.3. The crystal structures of these new CsGaQ2-mC16 analogous high-temperature phases were refined from synchrotron diffraction data by Rietveld-refinement.

  9. Replication the association of 2q32.2-q32.3 and 14q32.11 with hepatocellular carcinoma.

    Science.gov (United States)

    Chen, Wei; Wang, Mingquan; Zhang, Zhen; Tang, Huayang; Zuo, Xianbo; Meng, Xiangling; Xiong, Maoming; Zhou, Fusheng; Liang, Bo; Dai, Fen; Fang, Jun; Gao, Jinping; Zhu, Jun; Zhu, Yong; Wan, Hong; Wang, Miaofeng; Chan, Shixin; Sun, Liangdan

    2015-04-25

    Hepatocellular carcinoma (HCC) is a malignant tumor. The morbidity and mortality of HCC tend to ascend and become a serious threat to the population health. Genetic studies of HCC have identified several susceptibility loci of HCC. In this study, we aim to replicate the association of these loci in our samples from Chinese population and further investigate the genetic interaction. We selected 16 SNPs within 1p36.22, 2q32.2-q32.3, 3p21.33, 8p12, 14q32.11 and 21q21.3 and genotyped in 507 HCC patients and 3014 controls by using Sequenom MassARRAY system. Association analyses were performed by using PLINK 1.07. We observed that the STAT4 (2q32.2-q32.3) at rs7574865 (P=1.17×10(-3), OR=0.79) and EFCAB11 (14q32.11) at rs8013403 (P=1.54×10(-3), OR=0.80) were significantly associated with HCC in this study. In 3p21.33, genetic variant rs6795737 within GLB1 was also observed with suggestive evidence (P=9.98×10(-3), OR=0.84). In the interaction analysis, the pair of associated SNPs (rs7574865 within STAT4, rs8013403 within EFCAB11) generated evidence for interaction (P=4.10×10(-3)). In summary, our work first reported the association of 14q32.11 (EFCAB11) with HCC in Chinese Han population and revealed the genetic interaction between STAT4 (2q32.2-q32.3) and EFCAB11 (14q32.11) in HCC. Copyright © 2015 Elsevier B.V. All rights reserved.

  10. Siblings with opposite chromosome constitutions, dup(2q)/del(7q) and del(2q)/dup(7q).

    Science.gov (United States)

    Shim, Sung Han; Shim, Jae Sun; Min, Kyunghoon; Lee, Hee Song; Park, Ji Eun; Park, Sang Hee; Hwang, Euna; Kim, Minyoung

    2014-01-15

    Chromosome 7q36 microdeletion syndrome is a rare genomic disorder characterized by underdevelopment of the brain, microcephaly, anomalies of the sex organs, and language problems. Developmental delay, intellectual disability, autistic spectrum disorders, BDMR syndrome, and unusual facial morphology are the key features of the chromosome 2q37 microdeletion syndrome. A genetic screening for two brothers with global developmental delay using high-resolution chromosomal analysis and subtelomeric multiplex ligation-dependent probe amplification revealed subtelomeric rearrangements on the same sites of 2q37.2 and 7q35, with reversed deletion and duplication. Both of them showed dysmorphic facial features, severe disability of physical and intellectual development, and abnormal genitalia with differential abnormalities in their phenotypes. The family did not have abnormal genetic phenotypes. According to the genetic analysis of their parents, adjacent-1 segregation from their mother's was suggested as a mechanism of their gene mutation. By comparing the phenotypes of our patients with previous reports on similar patients, we tried to obtain the information of related genes and their chromosomal locations. © 2013.

  11. A Quantitative Electrophysiological Biomarker of Duplication 15q11.2-q13.1 Syndrome.

    Directory of Open Access Journals (Sweden)

    Joel Frohlich

    Full Text Available Duplications of 15q11.2-q13.1 (Dup15q syndrome are highly penetrant for autism spectrum disorder (ASD. A distinct electrophysiological (EEG pattern characterized by excessive activity in the beta band has been noted in clinical reports. We asked whether EEG power in the beta band, as well as in other frequency bands, distinguished children with Dup15q syndrome from those with non-syndromic ASD and then examined the clinical correlates of this electrophysiological biomarker in Dup15q syndrome.In the first study, we recorded spontaneous EEG from children with Dup15q syndrome (n = 11, age-and-IQ-matched children with ASD (n = 10 and age-matched typically developing (TD children (n = 9 and computed relative power in 6 frequency bands for 9 regions of interest (ROIs. Group comparisons were made using a repeated measures analysis of variance. In the second study, we recorded spontaneous EEG from a larger cohort of individuals with Dup15q syndrome (n = 27 across two sites and examined age, epilepsy, and duplication type as predictors of beta power using simple linear regressions.In the first study, spontaneous beta1 (12-20 Hz and beta2 (20-30 Hz power were significantly higher in Dup15q syndrome compared with both comparison groups, while delta (1-4 Hz was significantly lower than both comparison groups. Effect sizes in all three frequency bands were large (|d| > 1. In the second study, we found that beta2 power was significantly related to epilepsy diagnosis in Dup15q syndrome.Here, we have identified an electrophysiological biomarker of Dup15q syndrome that may facilitate clinical stratification, treatment monitoring, and measurement of target engagement for future clinical trials. Future work will investigate the genetic and neural underpinnings of this electrophysiological signature as well as the functional consequences of excessive beta oscillations in Dup15q syndrome.

  12. A characterization of the desarguesian planes of order q2 by SL(2,q

    Directory of Open Access Journals (Sweden)

    D. A. Foulser

    1983-01-01

    Full Text Available The main result is that if the translation complement of a translation plane of order q2 contains a group isomorphic to SL(2,q and if the subgroups of order q are elations (shears, then the plane is Desarguesian. This generalizes earlier work of Walker, who assumed that the kernel of the plane contained GF(q.

  13. Exit probability of the one-dimensional q-voter model: Analytical results and simulations for large networks

    Science.gov (United States)

    Timpanaro, André M.; Prado, Carmen P. C.

    2014-05-01

    We discuss the exit probability of the one-dimensional q-voter model and present tools to obtain estimates about this probability, both through simulations in large networks (around 107 sites) and analytically in the limit where the network is infinitely large. We argue that the result E(ρ )=ρq/ρq+(1-ρ)q, that was found in three previous works [F. Slanina, K. Sznajd-Weron, and P. Przybyła, Europhys. Lett. 82, 18006 (2008), 10.1209/0295-5075/82/18006; R. Lambiotte and S. Redner, Europhys. Lett. 82, 18007 (2008), 10.1209/0295-5075/82/18007, for the case q =2; and P. Przybyła, K. Sznajd-Weron, and M. Tabiszewski, Phys. Rev. E 84, 031117 (2011), 10.1103/PhysRevE.84.031117, for q >2] using small networks (around 103 sites), is a good approximation, but there are noticeable deviations that appear even for small systems and that do not disappear when the system size is increased (with the notable exception of the case q =2). We also show that, under some simple and intuitive hypotheses, the exit probability must obey the inequality ρq/ρq+(1-ρ)≤E(ρ)≤ρ/ρ +(1-ρ)q in the infinite size limit. We believe this settles in the negative the suggestion made [S. Galam and A. C. R. Martins, Europhys. Lett. 95, 48005 (2001), 10.1209/0295-5075/95/48005] that this result would be a finite size effect, with the exit probability actually being a step function. We also show how the result that the exit probability cannot be a step function can be reconciled with the Galam unified frame, which was also a source of controversy.

  14. Electroexcitation of the Roper resonance for 1.7 < Q**2 < 4.5 -GeV2 in vec-ep ---> en pi+

    Energy Technology Data Exchange (ETDEWEB)

    Aznauryan, Inna; Burkert, Volker; Kim, Wooyoung; Park, Kil; Adams, Gary; Amaryan, Moscov; Amaryan, Moskov; Ambrozewicz, Pawel; Anghinolfi, Marco; Asryan, Gegham; Avagyan, Harutyun; Bagdasaryan, H.; Baillie, Nathan; Ball, J.P.; Ball, Jacques; Baltzell, Nathan; Barrow, Steve; Batourine, V.; Battaglieri, Marco; Bedlinskiy, Ivan; Bektasoglu, Mehmet; Bellis, Matthew; Benmouna, Nawal; Berman, Barry; Biselli, Angela; Blaszczyk, Lukasz; Bonner, Billy; Bookwalter, Craig; Bouchigny, Sylvain; Boyarinov, Sergey; Bradford, Robert; Branford, Derek; Briscoe, Wilbert; Brooks, William; Bultmann, S.; Bueltmann, Stephen; Butuceanu, Cornel; Calarco, John; Careccia, Sharon; Carman, Daniel; Casey, Liam; Cazes, Antoine; Chen, Shifeng; Cheng, Lu; Cole, Philip; Collins, Patrick; Coltharp, Philip; Cords, Dieter; Corvisiero, Pietro; Crabb, Donald; Crede, Volker; Cummings, John; Dale, Daniel; Dashyan, Natalya; De Masi, Rita; De Vita, Raffaella; De Sanctis, Enzo; Degtiarenko, Pavel; Denizli, Haluk; Dennis, Lawrence; Deur, Alexandre; Dhamija, Seema; Dharmawardane, Kahanawita; Dhuga, Kalvir; Dickson, Richard; Djalali, Chaden; Dodge, Gail; Donnelly, J.; Doughty, David; Dugger, Michael; Dytman, Steven; Dzyubak, Oleksandr; Egiyan, Hovanes; Egiyan, Kim; Elfassi, Lamiaa; Elouadrhiri, Latifa; Eugenio, Paul; Fatemi, Renee; Fedotov, Gleb; Feldman, Gerald; Feuerbach, Robert; Forest, Tony; Fradi, Ahmed; Funsten, Herbert; Gabrielyan, Marianna; Garcon, Michel; Gavalian, Gagik; Gevorgyan, Nerses; Gilfoyle, Gerard; Giovanetti, Kevin; Girod, Francois-Xavier; Goetz, John; Gohn, Wesley; Golovach, Evgeny; Gonenc, Atilla; Gordon, Christopher; Gothe, Ralf; Graham, L.; Griffioen, Keith; Guidal, Michel; Guillo, Matthieu; Guler, Nevzat; Guo, Lei; Gyurjyan, Vardan; Hadjidakis, Cynthia; Hafidi, Kawtar; Hafnaoui, Khadija; Hakobyan, Hayk; Hakobyan, Rafael; Hanretty, Charles; Hardie, John; Hassall, Neil; Heddle, David; Hersman, F.; Hicks, Kenneth; Hleiqawi, Ishaq; Holtrop, Maurik; Hyde, Charles; Ilieva, Yordanka; Ireland, David; Ishkhanov, Boris; Isupov, Evgeny; Ito, Mark; Jenkins, David; Jo, Hyon-Suk; Johnstone, John; Joo, Kyungseon; Juengst, Henry; Kalantarians, Narbe; Keller, Dustin; Kellie, James; Khandaker, Mahbubul; Kim, Kui; Klein, Andreas; Klein, Andreas; Klimenko, Alexei; Kossov, Mikhail; Krahn, Zebulun; Kramer, Laird; Kubarovsky, Valery; Kuhn, Joachim; Kuhn, Sebastian; Kuleshov, Sergey; Kuznetsov, Viacheslav; Lachniet, Jeff; Laget, Jean; Langheinrich, Jorn; Lawrence, Dave; Lee, T.; Lima, Ana; Livingston, Kenneth; Lu, Haiyun; Lukashin, Konstantin; MacCormick, Marion; Markov, Nikolai; Mattione, Paul; McAleer, Simeon; McKinnon, Bryan; McNabb, John; Mecking, Bernhard; Mehrabyan, Surik; Melone, Joseph; Mestayer, Mac; Meyer, Curtis; Mibe, Tsutomu; Mikhaylov, Konstantin; Minehart, Ralph; Mirazita, Marco; Miskimen, Rory; Mokeev, Viktor; Morand, Ludyvine; Moreno, Brahim; Moriya, Kei; Morrow, Steven; Moteabbed, Maryam; Mueller, James; Munevar Espitia, Edwin; Mutchler, Gordon; Nadel-Turonski, Pawel; Nasseripour, Rakhsha; Niccolai, Silvia; Niculescu, Gabriel; Niculescu, Maria-Ioana; Niczyporuk, Bogdan; Niroula, Megh; Niyazov, Rustam; Nozar, Mina; O' Rielly, Grant; Osipenko, Mikhail; Ostrovidov, Alexander; Park, S.; Pasyuk, Evgueni; Paterson, Craig; Anefalos Pereira, S.; Philips, Sasha; Pierce, Jerome; Pivnyuk, Nikolay; Pocanic, Dinko; Pogorelko, Oleg; Polli, Ermanno; Popa, Iulian; Pozdnyakov, Sergey; Preedom, Barry; Price, John; Prok, Yelena; Protopopescu, Dan; Qin, Liming; Raue, Brian; Riccardi, Gregory; Ricco, Giovanni; Ripani, Marco; Ritchie, Barry; Rosner, Guenther; Rossi, Patrizia; Rowntree, David; Rubin, Philip; Sabatie, Franck; Saini, Mukesh; Salamanca, Julian; Salgado, Carlos; Santoro, Joseph; Sapunenko, Vladimir; Schott, Diane; Schumacher, Reinhard; Serov, Vladimir; Sharabian, Youri; Sharov, Dmitri; Shaw, J.; Shvedunov, Nikolay; Skabelin, Alexander; Smith, Elton; Smith, Lee; Sober, Daniel; Sokhan, Daria; Stavinskiy, Aleksey; Stepanyan, Samuel; Stepanyan, Stepan; Stokes, Burnham

    2008-10-01

    DOI: http://dx.doi.org/10.1103/PhysRevC.78.045209
    The helicity amplitudes of the electroexcitation of the Roper resonance are extracted for 1.7 < Q2 < 4.5 GeV2 from recent high precision JLab-CLAS cross section and longitudinally polarized beam asymmetry data for pi+ electroproduction on protons at W=1.15-1.69 GeV. The analysis is made using two approaches, dispersion relations and a unitary isobar model, which give consistent results. It is found that the transverse helicity amplitude A_{1/2} for the gamma* p -> N(1440)P11 transition, which is large and negative at Q2=0, becomes large and positive at Q2 ~ 2 GeV2, and then drops slowly with Q2. The longitudinal helicity amplitude S_{1/2}, which was previously found from CLAS ep -> eppi0,enpi+ data to be large and positive at Q2=0.4,0.65 GeV2, drops with Q2. Available model predictions for gamma* p -> N(1440)P11 allow us to conclude that these results provide strong evidence in favor of N(1440)P11 as a first radial excitation of

  15. LARG at chromosome 11q23 has functional characteristics of a tumor suppressor in human breast cancer

    Energy Technology Data Exchange (ETDEWEB)

    Ong, Danny C.T.; Rudduck, Christina; Chin, Koei; Kuo, Wen-Lin; Lie, Daniel K.H.; Chua, Constance L.M.; Wong, Chow Yin; Hong, Ga Sze; Gray, Joe; Lee, Ann S.G.

    2008-05-06

    Deletion of 11q23-q24 is frequent in a diverse variety of malignancies, including breast and colorectal carcinoma, implicating the presence of a tumor suppressor gene at that chromosomal region. We show here that LARG, from 11q23, has functional characteristics of a tumor suppressor. We examined a 6-Mb region on 11q23 by high-resolution deletion mapping, utilizing both loss of heterozygosity (LOH) analysis and microarray comparative genomic hybridization (CGH). LARG (also called ARHGEF12), identified from the analyzed region, was underexpressed in 34% of primary breast carcinomas and 80% of breast cancer cell lines including the MCF-7 line. Multiplex ligation-dependent probe amplification on 30 primary breast cancers and six breast cancer cell lines showed that LARG had the highest frequency of deletion compared to the BCSC-1 and TSLC1 genes, two known candidate tumor suppressor genes from 11q. In vitro analysis of breast cancer cell lines that underexpress LARG showed that LARG could be reactivated by trichostatin A, a histone deacetylase inhibitor, but not by 5-Aza-2{prime}-deoxycytidine, a demethylating agent. Bisulfite sequencing and quantitative high-throughput analysis of DNA methylation confirmed the lack of CpG island methylation in LARG in breast cancer. Restoration of LARG expression in MCF-7 cells by stable transfection resulted in reduced proliferation and colony formation, suggesting that LARG has functional characteristics of a tumor suppressor gene.

  16. Electron Scattering on deuterium

    International Nuclear Information System (INIS)

    Platchkov, S.

    1987-01-01

    Selected electron scattering experiments on the deuteron system are discussed. The main advantages of the electromagnetic probe are recalled. The deuteron A(q 2 ) structure function is analyzed and found to be very sensitive to the neutron electric form factor. Electrodisintegration of the deuteron near threshold is presented as evidence for the importance of meson exchange currents in nuclei [fr

  17. Trisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generations.

    Science.gov (United States)

    Glass, I A; Stormer, P; Oei, P T; Hacking, E; Cotter, P D

    1998-01-01

    In this communication, we describe two cases of proximal 2q trisomy (2q11.2--> q21.1) resulting from an interchromosomal insertion. The chromosomal origin of the insertion was confirmed by fluorescence in situ hybridisation. An unbalanced karyotype, 46,XX,der(8) ,ins(8;2) (p21.3; q21.1q11.2), was found in the proband and her mother, who both have mild mental retardation, short stature, dysmorphic features, insulin dependent diabetes mellitus, and a psychotic illness. This family is a rare example of direct transmission of a partial autosomal trisomy. Images PMID:9598728

  18. Search for the p1/2- resonance in 7He with the 7Li(d,2He) reaction and measurement of the deuteron electrodisintegration under 180 deg at the S-DALINAC

    International Nuclear Information System (INIS)

    Ryezayeva, N.

    2006-07-01

    The present work contains two parts, both devoted to the investigation of light nuclei. In the first part of the thesis the structure of the exotic 7 He nucleus is studied. The disappearance of the usual magic numbers in extremely neutron-rich nuclei implies a considerable modification in the spin-orbit interaction. Recent experiments yield contradictory results about a possible existence of the p 1/2 - spin-orbit partner of the 7 He ground state with a dominant p 3/2 - single-particle character. In order to clarify this question a study of the 7 Li(d, 2 He) 7 He reaction has been performed using a 171 MeV deuteron beam provided by the cyclotron at Kernfysisch Versneller Insituut (KVI) in Groningen. The experiment was carried out in April 2003. The setup at KVI offers a resolution ΔE ∼ 150 keV (FWHM) in the measured spectra, better than the line width of the ground state of 7 He. The unbound 2 He system was identified by detecting coincidences between two protons with small relative energy. The data were taken over the angular range Θ cm =0 -11.3 . A possible resonance at an excitation energy E x =(1.45 -0.5 +0.7 ) MeV with a width Γ=(2.0 -1.1 +1.0 ) MeV is suggested by a decomposition of the spectrum using known resonances, the breakup behaviour of 7 He and quasifree charge-exchange contributions, taking into account the cluster structure of 7 Li. Gamow-Teller strengths for transitions to the lowest states in 7 He are in remarkable agreement with results from ab initio Quantum Monte Carlo calculations. The neutron spectroscopic factor S n =0.64±0.09 of the 7 He ground state ( 7 He= 6 He x n) is extracted by an R-matrix analysis. In the second part of the thesis the deuteron breakup has been studied in the 2 H(e,e ' ) reaction at Θ=180 . The present measurements were performed in March and April 2006 at the superconducting Darmstadt electron linear accelerator S-DALINAC at an incident electron energy E 0 =27.8 MeV and 74 MeV. At low momentum transfer (q=0

  19. q-bosons and the q-analogue quantized field

    International Nuclear Information System (INIS)

    Nelson, C.A.

    1994-01-01

    The q-analogue coherent states |z > q are used to identify physical signatures for the presence of a q-analogue quantized radiation field in the | > q classical limit where |z| is large. In this quantum-optics-like limit, the fractional uncertainties of most physical quantities (momentum, position, amplitude, phase) which characterize the quantum field are O(1). They only vanish as O(1/|z|) when q = 1. However, for the number operator, N, and the N-Hamiltonian for a free q-boson gas, H N = ℎω(N + 1/2), the fractional uncertainties do still approach zero. A signature for q-boson counting statistics is that (ΔN) 2 / → 0 as |z| → ∞. Except for its O(1) fractional uncertainty, the q-generalization of the Hermitian phase operator of Pegg and Barnett, φ q , still exhibits normal classical behavior. The standard number-phase uncertainty-relation, ΔN Δφ q = 1/2, and the approximate commutation relation, [N,φ q ] = i, still hold for the single-mode q-analogue quantized field. So, N and φ q are almost canonically conjugate operators in the |z > q classical limit. The |z > q CS's minimize this uncertainty relation for moderate |z| 2

  20. Low Q2 kaon electroproduction

    International Nuclear Information System (INIS)

    Markowitz, P.; Acha, A.

    2010-01-01

    A measurement of the H(e, e′ K + ) reaction was performed at Hall A, TJNAF as part of the hypernuclear experiment E94-107. Data was taken at very low Q 2 (~ 0.07 (GeV/c) 2 ) and W = 2.2 GeV. Kaons were detected along the direction of q-vector, the momentum transferred by the incident electron (θ CM = 6°). These measurements provide data about the Σ 0 /Λ ratio which drops rapidly with Q 2 , the angular dependence of the cross sections as Q 2 → 0, and the dependence of the cross section with respect to Q 2 ,W and θ CM . The dependence of the cross section at very forward angles has been poorly known. Available models are inadequate to describe the results. The measurement of the elementary cross section will constrain models for the elementary reaction which are inadequate to describe these results. It is also a key ingredient in the hypernuclear spectroscopy studies performed at the same kinematics. Details of the calculations and results will be shown. (author)

  1. Two-body form factors at high Q2

    International Nuclear Information System (INIS)

    Gross, F.; Keister, B.D.

    1983-02-01

    The charge form factor of a scalar deuteron at high momentum transfer is examined in a model employing scalar nucleons and mesons. With an eye toward establishing consistency criteria for more realistic calculations, several aspects of the model are examined in detail: the role of nucleon and meson singularities in the one-loop impulse diagram, the role of positive-and negative-energy nucleons, and the relationship to time-ordered perturbation theory. It is found that at large Q 2 (1) the form factor is dominated by a term in which the spectator nucleon is on the mass shell, and (2) the meson singularity structure of the d-n-p vertex function is unimportant in determining the overall high-Q 2 behaviour of the form factor

  2. Q2/Q3 2017 Solar Industry Update

    Energy Technology Data Exchange (ETDEWEB)

    Feldman, David J. [National Renewable Energy Lab. (NREL), Golden, CO (United States); Hoskins, Jack [Dept. of Energy (DOE), Washington DC (United States); Margolis, Robert M. [National Renewable Energy Lab. (NREL), Golden, CO (United States)

    2017-10-24

    This technical presentation provides an update on the major trends that occurred in the solar industry in Q2 and Q3 of 2017. Major topics of focus include global and U.S. supply and demand, module and system price, investment trends and business models, and updates on U.S. government programs supporting the solar industry.

  3. Q2/Q3 2016 Solar Industry Update

    Energy Technology Data Exchange (ETDEWEB)

    Feldman, David; Boff, Daniel; Margolis, Robert

    2016-10-11

    This technical presentation provides an update on the major trends that occurred in the solar industry in the Q2 and Q3 of 2016. Major topics of focus include global and U.S. supply and demand, module and system price, investment trends and business models, and updates on U.S. government programs supporting the solar industry.

  4. Psychopathology and cognition in children with 22q11.2 deletion syndrome

    Science.gov (United States)

    Niarchou, Maria; Zammit, Stanley; van Goozen, Stephanie H. M.; Thapar, Anita; Tierling, Hayley M.; Owen, Michael J.; van den Bree, Marianne B. M.

    2014-01-01

    Background Children with 22q11.2 deletion syndrome (22q11.2DS) have been reported to have high rates of cognitive and psychiatric problems. Aims To establish the nature and prevalence of psychiatric disorder and neurocognitive impairment in children with 22q11.2DS and test whether risk of psychopathology is mediated by the children’s intellectual impairment. Method Neurocognition and psychopathology were assessed in 80 children with 22q11.2DS (mean age 10.2 years, s.d. = 2.1) and 39 sibling controls (mean age 10.9 years, s.d. = 2.0). Results More than half (54%) of children with 22q11.2DS met diagnostic criteria for one or more DSM-IV-TR psychiatric disorder. These children had lower IQ (mean 76.8, s.d. = 13.0) than controls (mean 108.6, s.d. = 15.2) (Ppsychopathology was not mediated by intellectual impairment. Conclusions 22q11.2DS is not related to a specific psychiatric phenotype in children. Moreover, the deletion has largely independent effects on IQ and risk of psychopathology, indicating that psychopathology in 22q11.2DS is not a non-specific consequence of generalised cognitive impairment. PMID:24115343

  5. QCD at low Q2 - a correspondence relation for moments of structure functions

    International Nuclear Information System (INIS)

    Schrempp, B.; Schrempp, F.

    1980-01-01

    The precocious validity of QCD predictions in deep inelastic lepton nucleon scattering and e + e - annihilation is interpreted as a signal for an underlying 'correspondence principle' relating perturbative and nonperturbative physics on the Q 2 average. Correspondence relations for nonsinglet moments of deep inelastic structure functions are formulated, discussed and successfully tested against experiment. The relations provide an independent determination of the QCD Λ-parameter from low Q 2 data in perfect agreement with results from large Q 2 analyses. (author)

  6. Hematological abnormalities and 22q11.2 deletion syndrome

    Directory of Open Access Journals (Sweden)

    Rafael Fabiano Machado Rosa

    2011-01-01

    Full Text Available The 22q11.2 deletion syndrome (22q11DS is a common genetic disease characterized by broad phenotypic variability. Despite the small number of studies describing hematological alterations in individuals with 22q11DS, it appears that these abnormalities are more frequent than previously imagined. Thus, the objective of our study was to report on a patient with 22q11DS presenting thrombocytopenia and large platelets and to review the literature. The patient, a 13-year-old boy, was originally evaluated due to craniofacial dysmorphia and speech delay. He also had a history of behavioral changes, neuropsychomotor delay and recurrent otitis/sinusitis. The identification of a 22q11.2 microdeletion by fluorescent in situ hybridization diagnosed the syndrome. Despite his hematological alterations, he only had a history of epistaxis and bruising of the upper and lower limbs. Assessments of the prothrombin time, thrombin time, partial thromboplastin time, bleeding time, fibrinogen levels and platelet aggregation (including the ristocetin induced platelet aggregation test were all normal. Hematological alterations observed in 22q11DS are directly related to the genetic disorder itself (especially in respect to deletion of the GPIb gene and secondary to some clinical findings, such as immunodeficiency. Macrothrombocytopenia is increasingly being considered a feature of the broad spectrum of 22q11DS and may potentially be a clinical marker for the syndrome.

  7. Chromosomal amplifications, 3q gain and deletions of 2q33-q37 are the frequent genetic changes in cervical carcinoma

    International Nuclear Information System (INIS)

    Rao, Pulivarthi H; Murty, Vundavalli VVS; Arias-Pulido, Hugo; Lu, Xin-Yan; Harris, Charles P; Vargas, Hernan; Zhang, Fang F; Narayan, Gopeshwar; Schneider, Achim; Terry, Mary Beth

    2004-01-01

    Carcinoma of uterine cervix is the second most common cancers among women worldwide. Combined radiation and chemotherapy is the choice of treatment for advanced stages of the disease. The prognosis is poor, with a five-year survival rate ranging from about 20–65%, depending on stage of the disease. Therefore, genetic characterization is essential for understanding the biology and clinical heterogeneity in cervical cancer (CC). We used a genome-wide screening method – comparative genomic hybridization (CGH) to identify DNA copy number changes in 77 patients with cervical cancer. We applied categorical and survival analyses to analyze whether chromosomal changes were related to clinico-pathologic characteristics and patients survival. The CGH analysis revealed a loss of 2q33-q37 (57.1%), gain of 3q (54.5%) and chromosomal amplifications (20.77%) as frequent genetic changes. A total of 15 amplified chromosomal sites were detected in 16 cases that include 1p31, 2q32, 7q22, 8q21.2-q24, 9p22, 10q21, 10q24, 11q13, 11q21, 12q15, 14q12, 17p11.2, 17q22, 18p11.2, and 19q13.1. Recurrent amplified sites were noted at 11q13, 11q21, and 19q13.1. The genomic alterations were further evaluated for prognostic significance in CC patients, and we did not find any correlation with a number of clinical or histological parameters. The tumors harboring HPV18 exhibited higher genomic instability compared to tumors with HPV 16. This study demonstrated that 2q33-q37 deletions, 3q gains and chromosomal amplifications as characteristic changes in invasive CC. These genetic alterations will aid in the identification of novel tumor suppressor gene(s) at 2q33-q37 and oncogenes at amplified chromosomal sites. Molecular characterization of these chromosomal changes utilizing the current genomic technologies will provide new insights into the biology and clinical behavior of CC

  8. Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism.

    Science.gov (United States)

    Devillard, Françoise; Guinchat, Vincent; Moreno-De-Luca, Daniel; Tabet, Anne-Claude; Gruchy, Nicolas; Guillem, Pascale; Nguyen Morel, Marie-Ange; Leporrier, Nathalie; Leboyer, Marion; Jouk, Pierre-Simon; Lespinasse, James; Betancur, Catalina

    2010-09-01

    We describe a patient with autism and a paracentric inversion of chromosome 2q14.2q37.3, with a concurrent duplication of the proximal breakpoint at 2q14.1q14.2 and a deletion of the distal breakpoint at 2q37.3. The abnormality was derived from his mother with a balanced paracentric inversion. The inversion in the child appeared to be cytogenetically balanced but subtelomere FISH revealed a cryptic deletion at the 2q37.3 breakpoint. High-resolution single nucleotide polymorphism array confirmed the presence of a 3.5 Mb deletion that extended to the telomere, and showed a 4.2 Mb duplication at 2q14.1q14.2. FISH studies using a 2q14.2 probe showed that the duplicated segment was located at the telomeric end of chromosome 2q. This recombinant probably resulted from breakage of a dicentric chromosome. The child had autism, mental retardation, speech and language delay, hyperactivity, growth retardation with growth hormone deficiency, insulin-dependent diabetes, and mild facial dysmorphism. Most of these features have been previously described in individuals with simple terminal deletion of 2q37. Pure duplications of the proximal chromosome 2q are rare and no specific syndrome has been defined yet, so the contribution of the 2q14.1q14.2 duplication to the phenotype of the patient is unknown. These findings underscore the need to explore apparently balanced chromosomal rearrangements inherited from a phenotypically normal parent in subjects with autism and/or developmental delay. In addition, they provide further evidence indicating that chromosome 2q terminal deletions are among the most frequently reported cytogenetic abnormalities in individuals with autism.

  9. Weyl q-coefficients for uq(3) and Racah q -coefficients for suq(2)

    International Nuclear Information System (INIS)

    Asherova, R.M.; Smirnov, Yu.F.; Tolstoy, V.N.

    1996-01-01

    With the aid of the projection-operator technique, the general analytic expression for the elements of the matrix that relates the U and T bases of an arbitrary finite-dimensional irreducible representation of the uq(3) quantum algebra (Weyl q-coefficients) is obtained for the case where the deformation parameter q is not equal to a square root of unity. The procedure for resummation of q-factorial expressions is used to prove that, modulo phase factors, these Weyl q-coefficients coincide with Racah q-coefficients for the suq(2) quantum algebra. It is also shown that, on the basis of one general formula, the q-analogs of all known general analytic expressions for the 6j symbols (and Racah coefficients) of the Lie algebras of the angular momentum can be obtained by using this resummation procedure. The symmetry properties of these q coefficients are discussed. The result is formulated in the following way: the general formulas for the q-6j symbols (Racah q-coefficients) of the suq(2) quantum algebra are obtained from the general formulas for the conventional 6j symbols (Racah coefficients) of the su(2) Lie algebra by replacing directly all factorials with q-factorials, the symmetry properties of the q-6j symbols being completely coincident with the symmetry properties of the conventional 6j symbols

  10. Q/sub 1/(1290) and Q/sub 2/(1400) decay rates and their SU(3) implications. [Rates

    Energy Technology Data Exchange (ETDEWEB)

    Carnegie, R K; Cashmore, R J; Dunwoodie, W M; Lasinski, T A; Leith, D W.G.S. [Stanford Linear Accelerator Center, Calif. (USA)

    1977-06-06

    The known information on the decay rates of the strangeness-one axial vector mesons, Q/sub 1/ and Q/sub 2/ is summarized and combined. From this information and the rate for B..--> omega pi.., the Qsub(A)-Qsub(B) mixing angle and the S-wave symmetric and antisymmetric octet couplings for vector-pseudoscalar decays of axial vector mesons are determined. If the D(1285) and the E(1420) belong to the fsup(PC)=1/sup + +/ nonet, the A/sub 1/ is found to have a mass of approximately 1.47 GeV and a large (>0.3 GeV) width.

  11. On QCD Q2-evolution of deuteron structure function F2D(xD, Q2) for xD>1

    International Nuclear Information System (INIS)

    Sidorov, A.V.; Tokarev, M.V.

    1995-01-01

    The deep-inelastic deuteron structure function (SF) F 2 D (x D ,Q 2 ) in the covariant approach in light-cone variables is considered. The x D and Q 2 -dependences of SF are calculated. The QCD analysis of generated data both for non-cumulative x D D >1 ranges was performed. It was shown that Q 2 -evolution of SF is valid for ranges 0.275 D D D -dependence of SF for the ranges is essentially different. 23 refs., 2 figs., 1 tab

  12. On q-power cycles in cubic graphs

    DEFF Research Database (Denmark)

    Bensmail, Julien

    2017-01-01

    In the context of a conjecture of Erdos and Gyárfás, we consider, for any q2, the existence of q-power cycles (i.e. with length a power of q) in cubic graphs. We exhibit constructions showing that, for every q ≥ 3, there exist arbitrarily large cubic graphs with no q-power cycles. Concerning...... the remaining case q = 2 (which corresponds to the conjecture of Erdos and Gyárfás), we show that there exist arbitrarily large cubic graphs whose only 2-power cycles have length 4 only, or 8 only....

  13. Double-hit lymphoma demonstrating t(6;14;18)(p25;q32;q21), suggesting two independent dual-hit translocations, MYC/BCL-2 and IRF4/BCL-2.

    Science.gov (United States)

    Tabata, Rie; Yasumizu, Ryoji; Tabata, Chiharu; Kojima, Masaru

    2013-01-01

    Here, we report a rare case of double-hit lymphoma, demonstrating t(6;14;18)(p25;q32;q21), suggesting two independent dual-translocations, c-MYC/BCL-2 and IRF4/BCL-2. The present case had a rare abnormal chromosome, t(6;14;18)(p25;q32;q21), independently, in addition to known dual-hit chromosomal abnormalities, t(14;18)(q32;q21) and t(8;22)(q24;q11.2). Lymph node was characterized by a follicular and diffuse growth pattern with variously sized neoplastic follicles. The intrafollicular area was composed of centrocytes with a few centroblasts and the interfollicular area was occupied by uniformly spread medium- to large-sized lymphocytes. CD23 immunostaining demonstrated a disrupted follicular dendritic cell meshwork. The intrafollicular tumor cells had a germinal center phenotype with the expression of surface IgM, CD10, Bcl-2, Bcl-6, and MUM1/IRF4. However, the interfollicular larger cells showed plasmacytic differentiation with diminished CD20, Bcl-2, Bcl-6, and positive intracytoplasmic IgM, and co-expression of MUM1/IRF4 and CD138 with increased Ki-67-positive cells (> 90%). MUM1/IRF4 has been found to induce c-MYC expression, and in turn, MYC transactivates MUM1/IRF4, creating a positive autoregulatory feedback loop. On the other hand, MUM1/IRF4 functions as a tumor suppressor in c-MYC-induced B-cell leukemia. The present rare case arouses interest in view of the possible "dual" activation of both c-MYC and MUM1/IRF4 through two independent dual-translocations, c-MYC/BCL-2 and IRF4/BCL-2.

  14. Improved double Q2 rescaling model

    International Nuclear Information System (INIS)

    Gao Yonghua

    2001-01-01

    The authors present an improved double Q 2 rescaling model. Based on this condition of the nuclear momentum conservation, the authors have found a Q 2 rescaling parameters' formula of the model, where authors have established the connection between the Q 2 rescaling parameter ζ i (i = v, s, g) and the mean binding energy in nucleus. By using this model, the authors coned explain the experimental data of the EMC effect in the whole x region, the nuclear Drell-Yan process and J/Ψ photoproduction process

  15. Q2 Dependence of Nuclear Transparency for Incoherent ρ0 Electroproduction

    International Nuclear Information System (INIS)

    John Arrington; Frank Dohrmann; Ahmed El Alaoui; Don Geesaman; Kawtar Hafidi; Roy Holt; Harold Jackson; David Potterveld; Brahim Mustapha; Paul Reimer; Elaine Schulte; Krishni Wijesooriya; Maurik Holtrop; Jacques Ball; Michel Garcon; Jean Laget; Franck Sabatie; Michel Guidal; Latifa Elouadrhiri; Borissov, A.; Wolfgang Lorenzon; Stepan Stepanyan; Lawrence Weinstein

    2002-01-01

    Measurements of exclusive incoherent electroproduction of ρ 0 (770) meson from 2 D, 12 C, and 63 Cu targets up to Q 2 = 4 GeV 2 are proposed using the CLAS detector. The objective of these measurements is to determine the Q 2 dependence of the nuclear transparency ratio for the two nuclear targets: 12 C and 63 Cu at fixed coherence length of quark-antiquark fluctuations of the virtual photon. A sizeable rise of the nuclear transparency is predicted and can be measured in this experiment. A relatively large increase of the nuclear transparency can be considered as a signature of the onset of color transparency

  16. SVZ⊕1/q{sup 2}-expansion versus some QCD holographic models

    Energy Technology Data Exchange (ETDEWEB)

    Jugeau, F., E-mail: frederic.jugeau@if.ufrj.br [Instituto de Física, Universidade Federal do Rio de Janeiro, Caixa Postal 68528, RJ 21941-972, Rio de Janeiro (Brazil); Narison, S., E-mail: snarison@yahoo.fr [Laboratoire Particules et Univers de Montpellier, CNRS-IN2P3, Case 070, Place Eugène Bataillon, 34095 Montpellier (France); Ratsimbarison, H., E-mail: herysedra@yahoo.fr [Institute of High-Energy Physics of Madagascar (iHEP-MAD), University of Antananarivo (Madagascar)

    2013-05-13

    Considering the classical two-point correlators built from (axial-) vector, scalar q{sup ¯}q and gluonium currents, we confront results obtained using the SVZ⊕1/q{sup 2}-expansion to the ones from some QCD holographic models in the Euclidean region and with negative dilaton Φ{sub i}(z)=−|c{sub i}{sup 2}|z{sup 2}. We conclude that the presence of the 1/q{sup 2}-term in the SVZ-expansion due to a tachyonic gluon mass appears naturally in the Minimum Soft-Wall (MSW) and the Gauge/String Dual (GSD) models which can also reproduce semi-quantitatively some of the higher dimension condensate contributions appearing in the OPE. The Hard-Wall model shows a large departure from the SVZ⊕1/q{sup 2}-expansion in the vector, scalar and gluonium channels due to the absence of any power corrections. The equivalence of the MSW and GSD models is manifest in the vector channel through the relation of the dilaton parameter with the tachyonic gluon mass. For approximately reproducing the phenomenological values of the dimension d=4,6 condensates, the holographic models require a tachyonic gluon mass (α{sub s}/π)λ{sup 2}≈−(0.12–0.14) GeV{sup 2}, which is about twice the fitted phenomenological value from e{sup +}e{sup −} data. The relation of the inverse length parameter c{sub i} to the tachyonic gluon mass also shows that c{sub i} is channel dependent but not universal for a given holographic model. Using the MSW model and M{sub ρ}=0.78 GeV as input, we predict a scalar q{sup ¯}q mass M{sub S}≈(0.95–1.10) GeV and a scalar gluonium mass M{sub G}≈(1.1–1.3) GeV.

  17. Production of Q2Q-bar2 mesoniums in γγ reactions, hardonic collisions, and J/psi radiative decays

    International Nuclear Information System (INIS)

    Liu, K.F.

    1985-01-01

    The rho 0 rho 0 enhancement and the rho + rho - supression in γγ reactions near the threshold is taken as a strong evidence for an exotic isotensor quantum number which signals for the multi-quark (Q 2 Q-bar 2 ) structure. The mass and the cross sections agree well with the prediction based on the Q 2 Q-bar 2 structure. The 2 ++ phiphi resonance at 2.16 GeV in πp and pp collisions has been interpreted as a 2 ++ s 2 s-bar 2 mesonium. The calculated mass, width, and the cross sections are all in accord with the experimental data. The correlated J/psi pair produced around 7 GeV in πN collisions at 150 and 280 GeV/c has been considered as a 2 ++ c 2 c-bar 2 mesonium. The calculated cross sections and the longitudinal and transverse momentum distributions are consistent with the data. The calculated branching ratio for J/psi → γ(Q 2 Q-bar 2 ) 2 ++ → γ rho - rho 0 is compatible with the recent experimental upper limit and the ratios of the helicity amplitudes are distinct from the ones measured in J/psi → γ θ(1700) → γ etaeta, γ KK-bar. The branching ratio for J/γ → γ(s 2 s-bar 2 ) 2 ++ → γ phiphi is predicted to be --10 -6

  18. The 3-loop non-singlet heavy flavor contributions to the structure function g1(x,Q2 at large momentum transfer

    Directory of Open Access Journals (Sweden)

    A. Behring

    2015-08-01

    Full Text Available We calculate the massive flavor non-singlet Wilson coefficient for the heavy flavor contributions to the polarized structure function g1(x,Q2 in the asymptotic region Q2≫m2 to 3-loop order in Quantum Chromodynamics at general values of the Mellin variable N and the momentum fraction x, and derive heavy flavor corrections to the Bjorken sum-rule. Numerical results are presented for the charm quark contribution. Results on the structure function g2(x,Q2 in the twist-2 approximation are also given.

  19. Experimental study of the photon structure function F2 in the high Q2 region

    International Nuclear Information System (INIS)

    Bartel, W.; Cords, D.; Dietrich, G.; Dittmann, P.; Eichler, R.; Felst, R.; Haidt, D.; Krehbiel, H.; Meier, K.; Naroska, B.

    1982-09-01

    We report on a measurement of the process e + e - → e + e - + hadrons, where one of the scattered electron is detected at large angles, with an average Q 2 of 23 GeV 2 . The results are analysed in terms of the photon structure function F 2 and are compared with QCD predictions. (orig.)

  20. Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder

    Directory of Open Access Journals (Sweden)

    Grabe Hans

    2010-06-01

    Full Text Available Abstract Background Obsessive-compulsive disorder (OCD is a clinically and etiologically heterogeneous syndrome. The high frequency of obsessive-compulsive symptoms reported in subjects with the 22q11.2 deletion syndrome (DiGeorge/velocardiofacial syndrome or Prader-Willi syndrome (15q11-13 deletion of the paternally derived chromosome, suggests that gene dosage effects in these chromosomal regions could increase risk for OCD. Therefore, the aim of this study was to search for microrearrangements in these two regions in OCD patients. Methods We screened the 15q11-13 and 22q11.2 chromosomal regions for genomic imbalances in 236 patients with OCD using multiplex ligation-dependent probe amplification (MLPA. Results No deletions or duplications involving 15q11-13 or 22q11.2 were identified in our patients. Conclusions Our results suggest that deletions/duplications of chromosomes 15q11-13 and 22q11.2 are rare in OCD. Despite the negative findings in these two regions, the search for copy number variants in OCD using genome-wide array-based methods is a highly promising approach to identify genes of etiologic importance in the development of OCD.

  1. Gene fusions AHRR-NCOA2, NCOA2-ETV4, ETV4-AHRR, P4HA2-TBCK, and TBCK-P4HA2 resulting from the translocations t(5;8;17)(p15;q13;q21) and t(4;5)(q24;q31) in a soft tissue angiofibroma.

    Science.gov (United States)

    Panagopoulos, Ioannis; Gorunova, Ludmila; Viset, Trond; Heim, Sverre

    2016-11-01

    We present an angiofibroma of soft tissue with the karyotype 46,XY,t(4;5)(q24;q31),t(5;8;17)(p15;q13;q21)[8]/46,XY,t(1;14)(p31;q32)[2]/46,XY[3]. RNA‑sequencing showed that the t(4;5)(q24;q31) resulted in recombination of the genes TBCK on 4q24 and P4HA2 on 5q31.1 with generation of an in‑frame TBCK‑P4HA2 and the reciprocal but out‑of‑frame P4HA2‑TBCK fusion transcripts. The putative TBCK‑P4HA2 protein would contain the kinase, the rhodanese‑like domain, and the Tre‑2/Bub2/Cdc16 (TBC) domains of TBCK together with the P4HA2 protein which is a component of the prolyl 4‑hydroxylase. The t(5;8;17)(p15;q13;q21) three‑way chromosomal translocation targeted AHRR (on 5p15), NCOA2 (on 8q13), and ETV4 (on 17q21) generating the in‑frame fusions AHRR‑NCOA2 and NCOA2‑ETV4 as well as an out‑of‑frame ETV4‑AHRR transcript. In the AHRR‑NCOA2 protein, the C‑terminal part of AHRR is replaced by the C‑terminal part of NCOA2 which contains two activation domains. The NCOA2‑ETV4 protein would contain the helix‑loop‑helix, PAS_9 and PAS_11, CITED domains, the SRC‑1 domain of NCOA2 and the ETS DNA‑binding domain of ETV4. No fusion gene corresponding to t(1;14)(p31;q32) was found. Our findings indicate that, in spite of the recurrence of AHRR‑NCOA2 in angiofibroma of soft tissue, additional genetic events (or fusion genes) might be required for the development of this tumor.

  2. The proton and deuteron F2 structure function at low Q2

    International Nuclear Information System (INIS)

    Tvaskis, Vladas; Arrington, John; Asaturyan, Razmik; Baker, Oliver; Blok, Henk; Bosted, Peter; Boswell, Melissa; Bruell, Antje; Christy, Michael; Cochran, Anthony; Ent, Rolf; Filippone, Bradley; Gasparian, Ashot; Keppel, Cynthia; Kinney, Edward; Lapikas, L.; Lorenzon, Wolfgang; Mack, David; Mammei, Juliette; Martin, J.W.; Mkrtchyan, Hamlet; Niculescu, Maria-Ioana; Piercey, Rodney; Potterveld, David; Smith, Gregory; Spurlock, Kurt; Van der Steenhoven, Gerard; Stepanyan, Stepan; Tadevosyan, Vardan; Wood, Stephen

    2010-01-01

    Measurements of the proton and deuteron F2 structure functions are presented. The data, taken at Jefferson Lab Hall C, span the four-momentum transfer range 0:06 < Q2 < 2:8 GeV2, and Bjorken x values from 0.009 to 0.45, thus extending the knowledge of F2 to low values of Q2 at low x. Next-to-next-to-leading order calculations using recent parton distribution functions start to deviate from the data for Q2 < 2 GeV2 at the low and high x-values. Down to the lowest value of Q2, the structure function is in good agreement with a parameterization of F2 based on data that have been taken at much higher values of Q2 or much lower values of x, and which is constrained by data at the photon point. The ratio of the deuteron and proton structure functions at low x remains well described by a logarithmic dependence on Q2 at low Q2.

  3. Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3

    Energy Technology Data Exchange (ETDEWEB)

    Greger, V.; Knoll, J.H.M.; Wagstaff, J.; Lalande, M. [and others

    1997-03-01

    Angelman syndrome (AS) most frequently results from large ({ge}5 Mb) de novo deletions of chromosome 15q11-q13. The deletions are exclusively of maternal origin, and a few cases of paternal uniparental disomy of chromosome 15 have been reported. The latter finding indicates that AS is caused by the absence of a maternal contribution to the imprinted 15q11-q13 region. Failure to inherit a paternal 15q11-q13 contribution results in the clinically distinct disorder of Prader-Willi syndrome. Cases of AS resulting from translocations or pericentric inversions have been observed to be associated with deletions, and there have been no confirmed reports of balanced rearrangements in AS. We report the first such case involving a paracentric inversion with a breakpoint located {approximately}25 kb proximal to the reference marker D15S10. This inversion has been inherited from a phenotypically normal mother. No deletion is evident by molecular analysis in this case, by use of cloned fragments mapped to within {approximately}1 kb of the inversion breakpoint. Several hypotheses are discussed to explain the relationship between the inversion and the AS phenotype. 47 refs., 3 figs.

  4. Study of charged-current ep interactions at Q2 > 200 GeV2 with the ZEUS detector at HERA

    International Nuclear Information System (INIS)

    Derrick, M.; Krakauer, D.; Magill, S.

    1996-06-01

    Deep inelastic charged-current reactions have been studied in e + p and e - p collisions at a center of mass energy of about 300 GeV in the kinematic region Q 2 >200 GeV 2 and x>0.006 using the ZEUS detector at HERA. The integrated cross sections for Q 2 >200 GeV 2 are found to be σ e + p→ anti νX =30.3 -4.2-2.6 +5.5+1.6 pb and σ e - p→νX =54.7 -9.8-3.4 +15.9+2.8 pb. Differential cross sections have been measured as functions of the variables x, y and Q 2 . From the measured differential cross sections dσ/dQ 2 , the W boson mass is determined to be M W =79 -7-4 +8+4 GeV. Measured jet rates and transverse energy profiles agree with model predictions. A search for charged-current interactions with a large rapidity gap yielded one candidate event, corresponding to a cross section σ e + p→ anti νX (Q 2 >200 GeV 2 ; η max -0.7 +1.8 ±0.1 pb. (orig.)

  5. Coordinates of the quantum plane as q-tensor operators in Uq (su(2) * su(2))

    International Nuclear Information System (INIS)

    Biedenharn, L.C.; Lohe, M.A.

    1995-01-01

    The relation between the set of transformations M q (2) of the quantum plane and the quantum universal enveloping algebra U q (u(2)) is investigated by constructing representations of the factor algebra U q (u(2) * u(2)). The non-commuting coordinates of M q (2), on which U q (2) * U q (2) acts, are realized as q-spinors with respect to each U q (u(2)) algebra. The representation matrices of U q (2) are constructed as polynomials in these spinor components. This construction allows a derivation of the commutation relations of the noncommuting coordinates of M q (2) directly from properties of U q (u(2)). The generalization of these results to U q (u(n)) and M q (n) is also discussed

  6. Measurement of the Elastic Ep Cross Section at Q2 = 0.66, 1.10, 1.51 and 1.65 Gev2

    Energy Technology Data Exchange (ETDEWEB)

    Wang, Yang [College of William and Mary, Williamsburg, VA (United States)

    2017-08-01

    The nucleon form factors have been investigated by physicists for decades because of their fundamental importance. The world data of the proton magnetic form factor GMp has been focused on Q2 lower than 5 GeV2 and they have large uncertainties at higher Q2. Jefferson Lab experiment E12-07-108 aims to improve the accuracy of the e ? p elastic cross section to better than 2% over a Q2 range of 7 ? 14 GeV2. From 2015 to 2016, the e ? p elastic cross section was measured over a wide range of Q2 from 0.66 ? 12.56 GeV2 at the Thomas Jefferson National Accelerator Facility in Virginia, USA. An unpolarized electron beam was scattered o? a cryogenic hydrogen target and the scattered electron was detected in the high resolution spectrometers. This thesis focuses on the cross section calculations of the data taken in the spring of 2015, where Q2 = 0.66, 1.10, 1.51 and 1.66 GeV2. At Q2 = 0.66 GeV2, an uncertainty < 3% was achieved and < 5% was achieved for the other three Q2 at the moment. The results were compared with the world data and the good agreement provides confidence for the experimental measurements at higher Q2.

  7. Search for the p{sub 1/2{sup -}} resonance in {sup 7}He with the {sup 7}Li(d,{sup 2}He) reaction and measurement of the deuteron electrodisintegration under 180 at the S-DALINAC

    Energy Technology Data Exchange (ETDEWEB)

    Ryezayeva, N.

    2006-07-15

    superconducting Darmstadt electron linear accelerator S-DALINAC at an incident electron energy E{sub 0}=27.8 MeV and 74 MeV. At low momentum transfer (q=0.28 fm{sup -1} and 0.73 fm{sup -1}, respectively) magnetic transitions are expected to give the dominant contributions to the breakup cross sections. Thus, the measured deuteron-electrodisintegration cross section at threshold can be used to obtain the cross section for the np {yields} d{gamma} reaction applying the principle of detailed balance. The accurate information about this process is of great interest in nuclear astrophysics, specifically with regard to Big-Bang nucleosynthesis. The experimental data are in excellent agreement with theoretical calculations based on a nucleon-nucleon potential model (Bonn-B), under the inclusion of meson-exchange and isobar effects. (orig.)

  8. Treatment of Large Bulla Formation after Tattoo Removal with a Q-Switched Laser

    Science.gov (United States)

    Kartono, Francisca; Desai, Alpesh; Kaur, Ravneet R.; Desai, Tejas

    2010-01-01

    Widely considered the gold standard treatment option for tattoo removal, the use of Q-switched lasers may very rarely result in the formation of large bulla. While very disconcerting to patients, these lesions are easily managed and, with proper care, heal quickly with no long-term consequences. The authors present three cases of patients who had bullous reactions shortly after receiving Q-switched laser treatment of tattoo ink. Bullous formation in all three patients was treated successfully. PMID:20725537

  9. Q0000-398 is a high-redshift quasar with a large angular size

    International Nuclear Information System (INIS)

    Gearhart, M.R.; Pacht, E.

    1977-01-01

    A study is described, using the three-element interferrometer at the National Radio Astronomy Observatory, West Virginia, to investigate whether any quasars exist that might be radio sources. It was found that Q0000-398 appeared to be a quasar of high red shift and large angular size. The interferrometer was operated with a 300-1200-1500 m baseline configuration at 2695 MHz. The radio map for Q0000-398 is shown, and has two weak components separated by 134 +- 40 arc s. If these components are associated with the optical object this quasar has the largest known angular size for its red shift value. The results reported for Q0000-398 and other quasars having considerable angular extent demonstrate the importance of considering radio selection effects in the angular diameter-red shift relationship, and since any radio selection effects are removed when quasars are selected optically, more extensive mapping programs should be undertaken, looking particularly for large scale structure around optically selected high-z quasars. (U.K.)

  10. The two-body electrodisintegration of 4He studied through the (e,e'X) reaction

    International Nuclear Information System (INIS)

    Brand, F.J.F. van den.

    1988-01-01

    In this thesis a study of the electrodisintegration of 4/He into a proton and a triton is discussed. The purpose of this investigation is to obtain the proton spectral function which in turn is expected to contain information on the short-range and tensor correlations in the four-nucleon system. The 4 He(e,e'p) 3 H experiment was performed with the electron-scattering facility at NIKHEF-K. A specially designed cryogenic target system was used (ch. 3). From the data precise absolute cross sections were extracted with good missing-energy resolution as a funtion of missing momentum in the range 10 m | 2 and the polarization parameter of the exchanged virtual photon (ch. 5). In PIWA the (e,e'p) cross section factorizes into an off-shell electron-proton cross section and the spectral funtion. In the region where both kinetamics overlap a strong dependence of the extracted spectral-function results on the kinetamic variables was observed whereas such a dependence should not occur in PWIA. In order to understand this apparent breakdown of the PWIA the influence of rescattering of the outgoing proton on the residual nucleus or final-state interactions (ch. 6) and the electron-proton coupling on the spectral function (ch. 7) have been investigated. The spectral-function data for the full missing-moment range have been compared to various theoretical results (ch. 8). It turns out that the data are best described in the microscopic framework starting from a correlated wave function. In ch. 9 the results are presented obtained with the 4 He(e,e' 3 H)p reaction from which information can be obtained about the proton spectral function at momentum values up to 550 MeV/c. At these high proton moments a more direct signature of pair-correlations in the 4 He system can be obtained. 242 refs.; 85 figs.; 24 tabs

  11. C1-2 vertebral anomalies in 22q11.2 microdeletion syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Konen, Osnat; Armstrong, Derek; Padfield, Nancy; Blaser, Susan [Hospital for Sick Children, Diagnostic Imaging, Toronto (Canada); Clarke, Howard [Hospital for Sick Children, Plastic Surgery, Toronto (Canada); Weksberg, Rosanna [Hospital for Sick Children, Clinical and Metabolic Genetics, Toronto (Canada)

    2008-07-15

    Chromosome 22q11.2 microdeletion syndrome (22q11DS) is characterized by cleft palate, cardiac anomalies, characteristic facies, high prevalence of skeletal anomalies and learning disability. To evaluate the prevalence of craniovertebral junction anomalies in children with 22q11DS and compare these findings to those in nonsyndromic children with velopharyngeal insufficiency (VPI). Sequential CT scans performed for presurgical carotid assessment in 76 children (45 children positive for chromosome 22q11.2 deletion and 31 negative for the deletion) with VPI were retrospectively evaluated for assessment of C1-2 anomalies. C1-2 vertebral anomalies, specifically midline C1 defects, uptilted or upswept posterior elements of C2 and fusions of C2-3, were nearly universal in our cohort of 22q11DS patients with VPI. They were strikingly absent in the majority of non-22q11DS patients with VPI. C1-2 vertebral anomalies, particularly those listed above, are important radiographic markers for 22q11DS. (orig.)

  12. C1-2 vertebral anomalies in 22q11.2 microdeletion syndrome

    International Nuclear Information System (INIS)

    Konen, Osnat; Armstrong, Derek; Padfield, Nancy; Blaser, Susan; Clarke, Howard; Weksberg, Rosanna

    2008-01-01

    Chromosome 22q11.2 microdeletion syndrome (22q11DS) is characterized by cleft palate, cardiac anomalies, characteristic facies, high prevalence of skeletal anomalies and learning disability. To evaluate the prevalence of craniovertebral junction anomalies in children with 22q11DS and compare these findings to those in nonsyndromic children with velopharyngeal insufficiency (VPI). Sequential CT scans performed for presurgical carotid assessment in 76 children (45 children positive for chromosome 22q11.2 deletion and 31 negative for the deletion) with VPI were retrospectively evaluated for assessment of C1-2 anomalies. C1-2 vertebral anomalies, specifically midline C1 defects, uptilted or upswept posterior elements of C2 and fusions of C2-3, were nearly universal in our cohort of 22q11DS patients with VPI. They were strikingly absent in the majority of non-22q11DS patients with VPI. C1-2 vertebral anomalies, particularly those listed above, are important radiographic markers for 22q11DS. (orig.)

  13. On sums of q-independent SU[sub q](2) quantum variables

    Energy Technology Data Exchange (ETDEWEB)

    Lenczewski, R. (Politechnika Wroclawska, Wroclaw (Poland). Hugo Steinhaus Center for Stochastic Methods)

    1993-05-01

    A representation-free approach to the q-analog of the quantum central limit theorem for C=SU[sub 1](2) is presented. It is shown that for certain functions [phi][epsilon]-C* one can derive a version of a quantum central limit theorem (qclt) with [radical][N] as a scaling parameter, which may be viewed as a q-analog of qclt. (orig.).

  14. Q2 evolution of generalized Baldin sum rule for the proton

    International Nuclear Information System (INIS)

    Liang, Y.; Christy, M. E.; Ent, R.; Keppel, C. E.

    2006-01-01

    The generalized Baldin sum rule for virtual photon scattering, the unpolarized analogy of the generalized Gerasimov-Drell-Hearn integral provides an important way to investigate the transition between perturbative QCD and hadronic descriptions of nucleon structure. This sum rule requires integration of the nucleon structure function F 1 , which until recently had not been measured at low Q 2 and large x, i.e., in the nucleon resonance region. This work uses new data from inclusive electron-proton scattering in the resonance region obtained at Jefferson Lab, in combination with SLAC deep inelastic scattering data, to present first precision measurements of the generalized Baldin integral for the proton in the Q 2 range of 0.3 to 4.0 GeV 2

  15. Structural and electronic properties of Cu2Q and CuQ (Q = O, S, Se, and Te) studied by first-principles calculations

    Science.gov (United States)

    Zhao, Ting; Wang, Yu-An; Zhao, Zong-Yan; Liu, Qiang; Liu, Qing-Ju

    2018-01-01

    In order to explore the similarity, difference, and tendency of binary copper-based chalcogenides, the crystal structure, electronic structure, and optical properties of eight compounds of Cu2Q and CuQ (Q = O, S, Se, and Te) have been calculated by density functional theory with HSE06 method. According to the calculated results, the electronic structure and optical properties of Cu2Q and CuQ present certain similarities and tendencies, with the increase of atomic number of Q elements: the interactions between Cu-Q, Cu-Cu, and Q-Q are gradually enhancing; the value of band gap is gradually decreasing, due to the down-shifting of Cu-4p states; the covalent feature of Cu atoms is gradually strengthening, while their ionic feature is gradually weakening; the absorption coefficient in the visible-light region is also increasing. On the other hand, some differences can be found, owing to the different crystal structure and component, for example: CuO presents the characteristics of multi-band gap, which is very favorable to absorb infrared-light; the electron transfer in CuQ is stronger than that in Cu2Q; the absorption peaks and intensity are very strong in the ultraviolet-light region and infrared-light region. The findings in the present work will help to understand the underlying physical mechanism of binary copper-based chalcogenides, and available to design novel copper-based chalcogenides photo-electronics materials and devices.

  16. Isovector meson-exchange currents in the light-front dynamics

    International Nuclear Information System (INIS)

    Desplanques, B.; Karmanov, V.A.; Mathiot, J.F.

    1994-09-01

    In the light-front dynamics, there is no pair term that plays the role of the dominant isovector pion exchange current. This current gives rise to the large and experimentally observed contribution to the deuteron electrodisintegration cross-section near threshold for pseudo-scalar πNN coupling. It is analytically shown that in leading 1/m order the amplitude in the light-front dynamics coincides, however, with the one given by the pair term. At high Q 2 , it consists of two equal parts. One comes from extra components of the deuteron and final state relativistic wave functions. The other results from the contact NNπγ interaction which appears in the light-front dynamics. This provides a transparent link between relativistic and non-relativistic approaches. (author). 16 refs., 4 figs

  17. GVMD Model Predictions for the Low Q2 Behaviour of the Spin Structure Function g1(x,Q2) and of the DHGHY Integral I(Q2)

    International Nuclear Information System (INIS)

    Badelek, B.; Kwiecinski, J.; Ziaja, B.

    2002-01-01

    Predictions for g 1 ( x, Q 2 ) at low Q 2 are obtained in the framework of the GVMD model. contributions from both light and heavy vector mesons are evaluated. The DHGHY sum rule is employed to fix the magnitude of the light vector meson contribution to g 1 , using the Recent measurements in the region of baryonic resonances. The DHGHY moment function is calculated. Predictions are compared to the data. (author)

  18. Open-flavor charm and bottom s q q ¯ Q ¯ and q q q ¯ Q ¯ tetraquark states

    Science.gov (United States)

    Chen, Wei; Chen, Hua-Xing; Liu, Xiang; Steele, T. G.; Zhu, Shi-Lin

    2017-06-01

    We provide comprehensive investigations for the mass spectrum of exotic open-flavor charmed/bottom s q q ¯ c ¯ , q q q ¯ c ¯ , s q q ¯ b ¯ , q q q ¯ b ¯ tetraquark states with various spin-parity assignments JP=0+,1+,2+ and 0- , 1- in the framework of QCD sum rules. In the diquark configuration, we construct the diquark-antidiquark interpolating tetraquark currents using the color-antisymmetric scalar and axial-vector diquark fields. The stable mass sum rules are established in reasonable parameter working ranges, which are used to give reliable mass predictions for these tetraquark states. We obtain the mass spectra for the open-flavor charmed/bottom s q q ¯c ¯, q q q ¯c ¯, s q q ¯b ¯, q q q ¯b ¯ tetraquark states with various spin-parity quantum numbers. In addition, we suggest searching for exotic doubly-charged tetraquarks, such as [s d ][u ¯ c ¯ ]→Ds(*)-π- in future experiments at facilities such as BESIII, BelleII, PANDA, LHCb, and CMS, etc.

  19. Properties of large p sub( t) jets in massive lepton-pair production at large q sub( t)

    International Nuclear Information System (INIS)

    Kinoshita, Kisei; Kinoshita, Yukiko.

    1979-01-01

    Production mechanism of massive lepton-pairs with large transverse momentum is discussed in connection with the properties of hadronic jets on the away side. Significant differences of CIM and QCD perturbation model will show up in the angular dependence and quantum number content of the away jets. If the QCD perturbation terms dominate, we can extract the gluon distributions inside hadrons and the gluon fragmentation function from the properties of the away jets triggering large q sub( t) lepton pairs. (author)

  20. Target and beam-target spin asymmetries in exclusive pion electroproduction for Q2>1 GeV2 . I. e p →e π+n

    Science.gov (United States)

    Bosted, P. E.; Amaryan, M. J.; Anefalos Pereira, S.; Avakian, H.; Badui, R. A.; Ball, J.; Baltzell, N. A.; Battaglieri, M.; Batourine, V.; Bedlinskiy, I.; Biselli, A. S.; Briscoe, W. J.; Bültmann, S.; Burkert, V. D.; Carman, D. S.; Celentano, A.; Chandavar, S.; Charles, G.; Ciullo, G.; Clark, L.; Colaneri, L.; Cole, P. L.; Contalbrigo, M.; Crede, V.; D'Angelo, A.; De Vita, R.; Deur, A.; De Sanctis, E.; Djalali, C.; Dupre, R.; Egiyan, H.; El Alaoui, A.; El Fassi, L.; Elouadrhiri, L.; Eugenio, P.; Fanchini, E.; Fedotov, G.; Filippi, A.; Fleming, J. A.; Forest, T.; Fradi, A.; Gevorgyan, N.; Ghandilyan, Y.; Gilfoyle, G. P.; Girod, F. X.; Gleason, C.; Gohn, W.; Golovatch, E.; Gothe, R. W.; Griffioen, K. A.; Guidal, M.; Hakobyan, H.; Hattawy, M.; Hicks, K.; Holtrop, M.; Hughes, S. M.; Ilieva, Y.; Ireland, D. G.; Ishkhanov, B. S.; Isupov, E. L.; Jiang, H.; Jo, H. S.; Joo, K.; Joosten, S.; Khachatryan, G.; Khandaker, M.; Kim, A.; Kim, W.; Klein, F. J.; Koirala, S.; Kubarovsky, V.; Kuhn, S. E.; Lanza, L.; Net, L. A.; Lenisa, P.; Livingston, K.; MacGregor, I. J. D.; McCracken, M. E.; McKinnon, B.; Meyer, C. A.; Mirazita, M.; Mokeev, V. I.; Montgomery, R. A.; Munevar, E.; Munoz Camacho, C.; Murdoch, G.; Nadel-Turonski, P.; Niccolai, S.; Osipenko, M.; Ostrovidov, A. I.; Park, K.; Pasyuk, E.; Peng, P.; Phelps, W.; Pisano, S.; Pogorelko, O.; Price, J. W.; Prok, Y.; Protopopescu, D.; Puckett, A. J. R.; Raue, B. A.; Ripani, M.; Rosner, G.; Rossi, P.; Schumacher, R. A.; Seder, E.; Skorodumina, Iu.; Smith, G. D.; Sokhan, D.; Sparveris, N.; Stankovic, I.; Stepanyan, S.; Strakovsky, I. I.; Strauch, S.; Taiuti, M.; Tian, Ye; Torayev, B.; Ungaro, M.; Voskanyan, H.; Voutier, E.; Walford, N. K.; Wei, X.; Weinstein, L. B.; Zachariou, N.; Zhang, J.; Zhao, Z. W.; Zonta, I.; CLAS Collaboration

    2017-03-01

    Beam-target double-spin asymmetries and target single-spin asymmetries were measured for the exclusive π+ electroproduction reaction γ*p →n π+ . The results were obtained from scattering of 6-GeV longitudinally polarized electrons off longitudinally polarized protons using the CEBAF Large Acceptance Spectrometer at Jefferson Laboratory. The kinematic range covered is 1.1 Q2<6 GeV2 . Results were obtained for about 6000 bins in W , Q2, cos(θ*) , and ϕ*. Except at forward angles, very large target-spin asymmetries are observed over the entire W region. Reasonable agreement is found with phenomenological fits to previous data for W <1.6 GeV, but very large differences are seen at higher values of W . A generalized parton distributions (GPD)-based model is in poor agreement with the data. When combined with cross-sectional measurements, the present results provide powerful constraints on nucleon resonance amplitudes at moderate and large values of Q2, for resonances with masses as high as 2.4 GeV.

  1. Effects of inspired CO2, hyperventilation, and time on VA/Q inequality in the dog

    Science.gov (United States)

    Tsukimoto, K.; Arcos, J. P.; Schaffartzik, W.; Wagner, P. D.; West, J. B.

    1992-01-01

    In a recent study by Tsukimoto et al. (J. Appl. Physiol. 68: 2488-2493, 1990), CO2 inhalation appeared to reduce the size of the high ventilation-perfusion ratio (VA/Q) mode commonly observed in anesthetized mechanically air-ventilated dogs. In that study, large tidal volumes (VT) were used during CO2 inhalation to preserve normocapnia. To separate the influences of CO2 and high VT on the VA/Q distribution in the present study, we examined the effect of inspired CO2 on the high VA/Q mode using eight mechanically ventilated dogs (4 given CO2, 4 controls). The VA/Q distribution was measured first with normal VT and then with increased VT. In the CO2 group at high VT, data were collected before, during, and after CO2 inhalation. With normal VT, there was no difference in the size of the high VA/Q mode between groups [10.5 +/- 3.5% (SE) of ventilation in the CO2 group, 11.8 +/- 5.2% in the control group]. Unexpectedly, the size of the high VA/Q mode decreased similarly in both groups over time, independently of the inspired PCO2, at a rate similar to the fall in cardiac output over time. The reduction in the high VA/Q mode together with a simultaneous increase in alveolar dead space (estimated by the difference between inert gas dead space and Fowler dead space) suggests that poorly perfused high VA/Q areas became unperfused over time. A possible mechanism is that elevated alveolar pressure and decreased cardiac output eliminate blood flow from corner vessels in nondependent high VA/Q regions.

  2. The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.

    NARCIS (Netherlands)

    Buggenhout, G.J.C.M. van; Ravenswaaij-Arts, C.M.A. van; Maas, N.; Thoelen, R.; Vogels, A.; Smeets, D.F.C.M.; Salden, I.; Matthijs, G.; Fryns, J.P.; Vermeesch, J.

    2005-01-01

    We report four patients with an interstitial deletion of chromosome 2q32-->2q33. They presented similar clinical findings including pre- and postnatal growth retardation, distinct facial dysmorphism, thin and sparse hair and fair built, micrognathia, cleft or high palate, relative macroglossia,

  3. A novel del(8)(q23.2q24.11) contributing to disease progression in a case of JAK2/TET2 double mutated chronic myelomonocytic leukemia

    DEFF Research Database (Denmark)

    Toft-Petersen, Marie; Kjeldsen, Eigil; Nederby, Line

    2014-01-01

    We have identified a novel 7.7 Mb del(8)(q23.2q24.11) in a patient progressing to acute myeloid leukemia (AML) following a 12-year stable phase of chronic myelomonocytic leukemia (CMML). A surprisingly high JAK2+ allelic burden of 92% at the time of AML led us to delineate the molecular aberrations...... relevant for leukemogenesis. While a frameshift mutation in the TET2 gene was stably present throughout the course of disease the JAK2 mutation was acquired after initial diagnosis of CMML. At progression aCGH revealed del(8q)(q23.2q24.11) encompassing various cancer relevant genes of which RAD21 and CSMD3...

  4. Vibrating mirror system suitable for q-switching large-aperture lasers

    Energy Technology Data Exchange (ETDEWEB)

    Beckwith, P.J.

    1977-11-01

    Resonant vibrating mirrors provide a convenient means of Q-switching a laser, but large-aperture versions require careful design if the drive power is not to become excessive. This report outlines the design principles involved in the optimisation of moving-iron galvanometer drivers, and describes a prototype device with an aperture of 40 mm x 80 mm which is capable of beam deflections of + or - 40 mrad at 800 Hz. Some suggestions are made concerning more refined designs.

  5. Mellin moments of heavy flavor contributions to F2(x,Q2) at NNLO

    International Nuclear Information System (INIS)

    Klein, Sebastian Werner Gerhard

    2009-10-01

    The main parts of this thesis are the extension of the description of the contributions of heavy quark mass-effects to the deep-inelastic Wilson coefficients to NNLO. In course of that, we also obtain a first independent calculation of fixed moments of the fermionic parts of the NNLO anomalous dimensions. The calculation of the 3-loop heavy flavor Wilson coefficients in the whole Q 2 region is currently not within reach. However, a very precise description of the heavy flavor Wilson coefficients contributing to the structure function F 2 (x,Q 2 ) at NLO is obtained for Q 2 >or similar 10 m Q 2 , disregarding the power corrections ∝(m Q 2 /Q 2 ) k , k ≥ 1. If one considers the charm quark, this covers an important region for deep-inelastic physics at HERA. In this limit, the massive Wilson coefficients factorize into universal massive operator matrix elements (OMEs) A ij (x, μ 2 /m Q 2 ) and the light flavor Wilson coefficients C (q,g),(2,L) (x,Q 22 ). The former are process independent quantities and describe all quark mass effects. They are given by matrix elements of the leading twist local composite operators O i between partonic states j (i, j = q, g), including quark masses. The process dependence is described by the massless Wilson coefficients. (orig.)

  6. Hidden U$_{q}$(sl(2)) x U$_{q}$(sl(2)) quantum group symmetry in two dimensional gravity

    CERN Document Server

    Cremmer, E; Schnittger, J

    1997-01-01

    In a previous paper, we proposed a construction of U_q(sl(2)) quantum group symmetry generators for 2d gravity, where we took the chiral vertex operators of the theory to be the quantum group covariant ones established in earlier works. The basic idea was that the covariant fields in the spin 1/2 representation themselves can be viewed as generators, as they act, by braiding, on the other fields exactly in the required way. Here we transform this construction to the more conventional description of 2d gravity in terms of Bloch wave/Coulomb gas vertex operators, thereby establishing for the first time its quantum group symmetry properties. A U_q(sl(2))\\otimes U_q(sl(2)) symmetry of a novel type emerges: The two Cartan-generator eigenvalues are specified by the choice of matrix element (bra/ket Verma-modules); the two Casimir eigenvalues are equal and specified by the Virasoro weight of the vertex operator considered; the co-product is defined with a matching condition dictated by the Hilbert space structure of...

  7. Evaluation of 22q11.2 deletion in Cleft Palate patients

    Science.gov (United States)

    Prabodha, L. B. Lahiru; Dias, Dayanath Kumara; Nanayakkara, B. Ganananda; de Silva, Deepthi C.; Chandrasekharan, N. Vishvanath; Ileyperuma, Isurani

    2012-01-01

    Background: Cleft palate is the commonest multifactorial epigenetic disorder with a prevalence of 0.43-2.45 per 1000. The objectives of this study were to evaluate the clinical features and identify the 22q11.2 deletion in patients with cleft palate in Sri Lanka. Materials and Methods: Cleft patients attending a Teaching Hospital in Sri Lanka were recruited for this study. The relevant data were obtained from review of case notes, interviews, and examination of patients according to a standard evaluation sheet. Quantitative multiplex polymerase chain reaction (PCR) was performed to identify the 22q11.2 deletion. A gel documentation system (Bio-Doc) was used to quantify the PCR product following electrophoresis on 0.8% agarose gel. Results and Conclusion: There were 162 cleft palate patients of whom 59% were females. A total of 92 cleft palate subjects (56.2%) had other associated clinical features. Dysmorphic features (25.27%) and developmental delays (25.27%) were the commonest medical problems encountered. The cleft was limited to the soft palate in 125 patients, while in 25 patients it involved both the hard and the soft palate. There were seven subjects with bifid uvula and five subjects with submucous cleft palate. None of the patients had 22q11.2 deletion in this study population. A multicentered large population-based study is needed to confirm the results of this study and to develop guidelines on the appropriate use of 22q11.2 deletion testing, which are valid for cleft palate patients in Sri Lanka. PMID:23483617

  8. Generalized zeta function representation of groups and 2-dimensional topological Yang-Mills theory: The example of GL(2, _q) and PGL(2, _q)

    International Nuclear Information System (INIS)

    Roche, Ph.

    2016-01-01

    We recall the relation between zeta function representation of groups and two-dimensional topological Yang-Mills theory through Mednikh formula. We prove various generalisations of Mednikh formulas and define generalization of zeta function representations of groups. We compute some of these functions in the case of the finite group GL(2, _q) and PGL(2, _q). We recall the table characters of these groups for any q, compute the Frobenius-Schur indicator of their irreducible representations, and give the explicit structure of their fusion rings.

  9. Identification of novel candidate target genes, including EPHB3, MASP1 and SST at 3q26.2q29 in squamous cell carcinoma of the lung

    International Nuclear Information System (INIS)

    Kang, Ji Un; Koo, Sun Hoe; Kwon, Kye Chul; Park, Jong Woo; Kim, Jin Man

    2009-01-01

    The underlying genetic alterations for squamous cell carcinoma (SCC) and adenocarcinoma (AC) carcinogenesis are largely unknown. High-resolution array- CGH was performed to identify the differences in the patterns of genomic imbalances between SCC and AC of non-small cell lung cancer (NSCLC). On a genome-wide profile, SCCs showed higher frequency of gains than ACs (p = 0.067). More specifically, statistically significant differences were observed across the histologic subtypes for gains at 2q14.2, 3q26.2q29, 12p13.2–p13.33, and 19p13.3, as well as losses at 3p26.2–p26.3, 16p13.11, and 17p11.2 in SCC, and gains at 7q22.1 and losses at 15q22.2q25.2 occurred in AC (P < 0.05). The most striking difference between SCC and AC was gains at the 3q26.2q29, occurring in 86% (19/22) of SCCs, but in only 21% (3/14) of ACs. Many significant genes at the 3q26.2q29 regions previously linked to a specific histology, such as EVI1,MDS1, PIK3CA and TP73L, were observed in SCC (P < 0.05). In addition, we identified the following possible target genes (> 30% of patients) at 3q26.2q29: LOC389174 (3q26.2),KCNMB3 (3q26.32),EPHB3 (3q27.1), MASP1 and SST (3q27.3), LPP and FGF12 (3q28), and OPA1,KIAA022,LOC220729, LOC440996,LOC440997, and LOC440998 (3q29), all of which were significantly targeted in SCC (P < 0.05). Among these same genes, high-level amplifications were detected for the gene, EPHB3, at 3q27.1, and MASP1 and SST, at 3q27.3 (18, 18, and 14%, respectively). Quantitative real time PCR demonstrated array CGH detected potential candidate genes that were over expressed in SCCs. Using whole-genome array CGH, we have successfully identified significant differences and unique information of chromosomal signatures prevalent between the SCC and AC subtypes of NSCLC. The newly identified candidate target genes may prove to be highly attractive candidate molecular markers for the classification of NSCLC histologic subtypes, and could potentially contribute to the

  10. Long-Term Serological Follow-Up of Acute Q-Fever Patients after a Large Epidemic.

    Directory of Open Access Journals (Sweden)

    Cornelia C H Wielders

    Full Text Available Serological follow-up of acute Q-fever patients is important for detection of chronic infection but there is no consensus on its frequency and duration. The 2007-2009 Q-fever epidemic in the Netherlands allowed for long-term follow-up of a large cohort of acute Q-fever patients. The aim of this study was to validate the current follow-up strategy targeted to identify patients with chronic Q-fever.A cohort of adult acute Q-fever patients, diagnosed between 2007 and 2009, for whom a twelve-month follow-up sample was available, was invited to complete a questionnaire and provide a blood sample, four years after the acute episode. Antibody profiles, determined by immunofluorescence assay in serum, were investigated with a special focus on high titres of IgG antibodies against phase I of Coxiella burnetii, as these are considered indicative for possible chronic Q-fever.Of the invited 1,907 patients fulfilling inclusion criteria, 1,289 (67.6% were included in the analysis. At any time during the four-year follow-up period, 58 (4.5% patients were classified as possible, probable, or proven chronic Q-fever according to the Dutch Q-fever Consensus Group criteria (which uses IgG phase I ≥1:1,024 to as serologic criterion for chronic Q-fever. Fifty-two (89.7% of these were identified within the first year after the acute episode. Of the six patients that were detected for the first time at four-year follow-up, five had an IgG phase I titre of 1:512 at twelve months.A twelve-month follow-up check after acute Q-fever is recommended as it adequately detects chronic Q-fever in patients without known risk factors. Additional serological and clinical follow-up is recommended for patients with IgG phase I ≥1:512, as they showed the highest risk to progress to chronic Q-fever.

  11. Measurement of the $Q^2$ evolution of the photon structure function $F^{\\gamma}_{2}$

    CERN Document Server

    Ackerstaff, K.; Allison, John; Altekamp, N.; Anderson, K.J.; Anderson, S.; Arcelli, S.; Asai, S.; Axen, D.; Azuelos, G.; Ball, A.H.; Barberio, E.; Barillari, T.; Barlow, Roger J.; Bartoldus, R.; Batley, J.R.; Baumann, S.; Bechtluft, J.; Beeston, C.; Behnke, T.; Bell, A.N.; Bell, Kenneth Watson; Bella, G.; Bentvelsen, S.; Bethke, S.; Biebel, O.; Biguzzi, A.; Bird, S.D.; Blobel, V.; Bloodworth, I.J.; Bloomer, J.E.; Bobinski, M.; Bock, P.; Bonacorsi, D.; Boutemeur, M.; Bouwens, B.T.; Braibant, S.; Brigliadori, L.; Brown, Robert M.; Burckhart, H.J.; Burgard, C.; Burgin, R.; Capiluppi, P.; Carnegie, R.K.; Carter, A.A.; Carter, J.R.; Chang, C.Y.; Charlton, David G.; Chrisman, D.; Clarke, P.E.L.; Cohen, I.; Conboy, J.E.; Cooke, O.C.; Cuffiani, M.; Dado, S.; Dallapiccola, C.; Dallavalle, G.Marco; Davies, R.; De Jong, S.; del Pozo, L.A.; Desch, K.; Dienes, B.; Dixit, M.S.; do Couto e Silva, E.; Doucet, M.; Duchovni, E.; Duckeck, G.; Duerdoth, I.P.; Eatough, D.; Edwards, J.E.G.; Estabrooks, P.G.; Evans, H.G.; Evans, M.; Fabbri, F.; Fanti, M.; Faust, A.A.; Fiedler, F.; Fierro, M.; Fischer, H.M.; Fleck, I.; Folman, R.; Fong, D.G.; Foucher, M.; Furtjes, A.; Futyan, D.I.; Gagnon, P.; Gary, J.W.; Gascon, J.; Gascon-Shotkin, S.M.; Geddes, N.I.; Geich-Gimbel, C.; Geralis, T.; Giacomelli, G.; Giacomelli, P.; Giacomelli, R.; Gibson, V.; Gibson, W.R.; Gingrich, D.M.; Glenzinski, D.; Goldberg, J.; Goodrick, M.J.; Gorn, W.; Grandi, C.; Gross, E.; Grunhaus, J.; Gruwe, M.; Hajdu, C.; Hanson, G.G.; Hansroul, M.; Hapke, M.; Hargrove, C.K.; Hart, P.A.; Hartmann, C.; Hauschild, M.; Hawkes, C.M.; Hawkings, R.; Hemingway, R.J.; Herndon, M.; Herten, G.; Heuer, R.D.; Hildreth, M.D.; Hill, J.C.; Hillier, S.J.; Hobson, P.R.; Homer, R.J.; Honma, A.K.; Horvath, D.; Hossain, K.R.; Howard, R.; Huntemeyer, P.; Hutchcroft, D.E.; Igo-Kemenes, P.; Imrie, D.C.; Ingram, M.R.; Ishii, K.; Jawahery, A.; Jeffreys, P.W.; Jeremie, H.; Jimack, M.; Joly, A.; Jones, C.R.; Jones, G.; Jones, M.; Jost, U.; Jovanovic, P.; Junk, T.R.; Karlen, D.; Kartvelishvili, V.; Kawagoe, K.; Kawamoto, T.; Kayal, P.I.; Keeler, R.K.; Kellogg, R.G.; Kennedy, B.W.; Kirk, J.; Klier, A.; Kluth, S.; Kobayashi, T.; Kobel, M.; Koetke, D.S.; Kokott, T.P.; Kolrep, M.; Komamiya, S.; Kress, T.; Krieger, P.; von Krogh, J.; Kyberd, P.; Lafferty, G.D.; Lahmann, R.; Lai, W.P.; Lanske, D.; Lauber, J.; Lautenschlager, S.R.; Layter, J.G.; Lazic, D.; Lee, A.M.; Lefebvre, E.; Lellouch, D.; Letts, J.; Levinson, L.; Lloyd, S.L.; Loebinger, F.K.; Long, G.D.; Losty, M.J.; Ludwig, J.; Macchiolo, A.; Macpherson, A.; Mannelli, M.; Marcellini, S.; Markus, C.; Martin, A.J.; Martin, J.P.; Martinez, G.; Mashimo, T.; Mattig, Peter; McDonald, W.John; McKenna, J.; Mckigney, E.A.; McMahon, T.J.; McPherson, R.A.; Meijers, F.; Menke, S.; Merritt, F.S.; Mes, H.; Meyer, J.; Michelini, A.; Mikenberg, G.; Miller, D.J.; Mincer, A.; Mir, R.; Mohr, W.; Montanari, A.; Mori, T.; Morii, M.; Muller, U.; Mihara, S.; Nagai, K.; Nakamura, I.; Neal, H.A.; Nellen, B.; Nisius, R.; O'Neale, S.W.; Oakham, F.G.; Odorici, F.; Ogren, H.O.; Oh, A.; Oldershaw, N.J.; Oreglia, M.J.; Orito, S.; Palinkas, J.; Pasztor, G.; Pater, J.R.; Patrick, G.N.; Patt, J.; Pearce, M.J.; Perez-Ochoa, R.; Petzold, S.; Pfeifenschneider, P.; Pilcher, J.E.; Pinfold, J.; Plane, David E.; Poffenberger, P.; Poli, B.; Posthaus, A.; Rees, D.L.; Rigby, D.; Robertson, S.; Robins, S.A.; Rodning, N.; Roney, J.M.; Rooke, A.; Ros, E.; Rossi, A.M.; Routenburg, P.; Rozen, Y.; Runge, K.; Runolfsson, O.; Ruppel, U.; Rust, D.R.; Rylko, R.; Sachs, K.; Saeki, T.; Sarkisian, E.K.G.; Sbarra, C.; Schaile, A.D.; Schaile, O.; Scharf, F.; Scharff-Hansen, P.; Schenk, P.; Schieck, J.; Schleper, P.; Schmitt, B.; Schmitt, S.; Schoning, A.; Schroder, Matthias; Schultz-Coulon, H.C.; Schumacher, M.; Schwick, C.; Scott, W.G.; Shears, T.G.; Shen, B.C.; Shepherd-Themistocleous, C.H.; Sherwood, P.; Siroli, G.P.; Sittler, A.; Skillman, A.; Skuja, A.; Smith, A.M.; Snow, G.A.; Sobie, R.; Soldner-Rembold, S.; Springer, Robert Wayne; Sproston, M.; Stephens, K.; Steuerer, J.; Stockhausen, B.; Stoll, K.; Strom, David M.; Szymanski, P.; Tafirout, R.; Talbot, S.D.; Tanaka, S.; Taras, P.; Tarem, S.; Teuscher, R.; Thiergen, M.; Thomson, M.A.; von Torne, E.; Towers, S.; Trigger, I.; Trocsanyi, Z.; Tsur, E.; Turcot, A.S.; Turner-Watson, M.F.; Utzat, P.; Van Kooten, Rick J.; Verzocchi, M.; Vikas, P.; Vokurka, E.H.; Voss, H.; Wackerle, F.; Wagner, A.; Ward, C.P.; Ward, D.R.; Watkins, P.M.; Watson, A.T.; Watson, N.K.; Wells, P.S.; Wermes, N.; White, J.S.; Wilkens, B.; Wilson, G.W.; Wilson, J.A.; Wolf, G.; Wyatt, T.R.; Yamashita, S.; Yekutieli, G.; Zacek, V.; Zer-Zion, D.

    1997-01-01

    New measurements are presented of the photon structure function F_2^gamma(Q) at four values of Q^2 between 9 and 59 GeV/c^2 based on data collected with the OPAL detector at centre-of-mass energies of 161-172 GeV, with a total integrated luminosity of 18.1 pb^-1. The evolution of F_2^gamma with Q^2 in bins of x is determined in the Q^2 range from 1.86 to 135 GeV/c^2 using data taken at centre-of-mass energies of 91 GeV and 161-172 GeV. F_2^gamma is observed to increase with Q^2 with a slope of 1/alpha_em dF_2^gamma/dln(Q^2) = 0.10 +0.05 -0.03 measured in the range 0.1 < x < 0.6.

  12. Moments of the Spin Structure Functions g1p and g1d for 0.05 < Q2 < 3.0 GeV2

    Energy Technology Data Exchange (ETDEWEB)

    Prok, Yelena; Bosted, Peter; Burkert, Volker; Deur, Alexandre; Dharmawardane, Kahanawita; Dodge, Gail; Griffioen, Keith; Kuhn, Sebastian; Minehart, Ralph; Adams, Gary; Amaryan, Moscov; Amaryan, Moskov; Anghinolfi, Marco; Asryan, G.; Audit, Gerard; Avagyan, Harutyun; Baghdasaryan, Hovhannes; Baillie, Nathan; Ball, J.P.; Ball, Jacques; Baltzell, Nathan; Barrow, Steve; Battaglieri, Marco; Beard, Kevin; Bedlinskiy, Ivan; Bektasoglu, Mehmet; Bellis, Matthew; Benmouna, Nawal; Berman, Barry; Biselli, Angela; Blaszczyk, Lukasz; Boyarinov, Sergey; Bonner, Billy; Bouchigny, Sylvain; Bradford, Robert; Branford, Derek; Briscoe, William; Brooks, William; Bultmann, S.; Bueltmann, Stephen; Butuceanu, Cornel; Calarco, John; Careccia, Sharon; Carman, Daniel; Casey, Liam; Cazes, Antoine; Chen, Shifeng; Cheng, Lu; Cole, Philip; Collins, Patrick; Coltharp, Philip; Cords, Dieter; Corvisiero, Pietro; Crabb, Donald; Crede, Volker; Cummings, John; Dale, Daniel; Dashyan, Natalya; De Masi, Rita; De Vita, Raffaella; De Sanctis, Enzo; Degtiarenko, Pavel; Denizli, Haluk; Dennis, Lawrence; Dhuga, Kalvir; Dickson, Richard; Djalali, Chaden; Doughty, David; Dugger, Michael; Dytman, Steven; Dzyubak, Oleksandr; Egiyan, Hovanes; Egiyan, Kim; Elfassi, Lamiaa; Elouadrhiri, Latifa; Eugenio, Paul; Fatemi, Renee; Fedotov, Gleb; Feldman, Gerald; Fersch, Robert; Feuerbach, Robert; Forest, Tony; Fradi, Ahmed; Funsten, Herbert; Garcon, Michel; Gavalian, Gagik; Gevorgyan, Nerses; Gilfoyle, Gerard; Giovanetti, Kevin; Girod, Francois-Xavier; Goetz, John; Golovach, Evgeny; Gothe, Ralf; Guidal, Michel; Guillo, Matthieu; Guler, Nevzat; Guo, Lei; Gyurjyan, Vardan; Hadjidakis, Cynthia; Hafidi, Kawtar; Hakobyan, Hayk; Hanretty, Charles; Hardie, John; Hassall, Neil; Heddle, David; Hersman, F.; Hicks, Kenneth; Hleiqawi, Ishaq; Holtrop, Maurik; Huertas, Marco; Hyde, Charles; Ilieva, Yordanka; Ireland, David; Ishkhanov, Boris; Isupov, Evgeny; Ito, Mark; Jenkins, David; Jo, Hyon-Suk; Johnstone, John; Joo, Kyungseon; Juengst, Henry; Kalantarians, Narbe; Keith, Christopher; Kellie, James; Khandaker, Mahbubul; Kim, Kui; Kim, Kyungmo; Kim, Wooyoung; Klein, Andreas; Klein, Franz; Klusman, Mike; Kossov, Mikhail; Krahn, Zebulun; Kramer, Laird; Kubarovsky, Valery; Kuhn, Joachim; Kuleshov, Sergey; Kuznetsov, Viacheslav; Lachniet, Jeff; Laget, Jean; Langheinrich, Jorn; Lawrence, Dave; Lima, Ana; Livingston, Kenneth; Lu, Haiyun; Lukashin, K.; MacCormick, Marion; Marchand, Claude; Markov, Nikolai; Mattione, Paul; McAleer, Simeon; McKinnon, Bryan; McNabb, John; Mecking, Bernhard; Mestayer, Mac; Meyer, Curtis; Mibe, Tsutomu; Mikhaylov, Konstantin; Mirazita, Marco; Miskimen, Rory; Mokeev, Viktor; Morand, Ludyvine; Moreno, Brahim; Moriya, Kei; Morrow, Steven; Moteabbed, Maryam; Mueller, James; Munevar Espitia, Edwin; Mutchler, Gordon; Nadel-Turonski, Pawel; Nasseripour, Rakhsha; Niccolai, Silvia; Niculescu, Gabriel; Niculescu, Maria-Ioana; Niczyporuk, Bogdan; Niroula, Megh; Niyazov, Rustam; Nozar, Mina; O' Rielly, Grant; Osipenko, Mikhail; Ostrovidov, Alexander; Park, Kijun; Pasyuk, Evgueni; Paterson, Craig; Anefalos Pereira, S.; Philips, Sasha; Pierce, J.; Pivnyuk, Nikolay; Pocanic, Dinko; Pogorelko, Oleg; Popa, Iulian; Pozdnyakov, Sergey; Preedom, Barry; Price, John; Procureur, Sebastien; Protopopescu, Dan; Qin, Liming; Raue, Brian; Riccardi, Gregory; Ricco, Giovanni; Ripani, Marco; Ritchie, Barry; Rosner, Guenther; Rossi, Patrizia; Rowntree, David; Rubin, Philip; Sabatie, Franck; Salamanca, Julian; Salgado, Carlos; Santoro, Joseph; Sapunenko, Vladimir; Schumacher, Reinhard; Seely, Mikell; Serov, Vladimir; Sharabian, Youri; Sharov, Dmitri; Shaw, Jeffrey; Shvedunov, Nikolay; Skabelin, Alexander; Smith, Elton; Smith, Lee; Sober, Daniel; Sokhan, Daria; Stavinskiy, Aleksey; Stepanyan, Samuel; Stepanyan, Stepan; Stokes, Burnham; Stoler, Paul; Strakovski, Igor; Strauch, Steffen; Suleiman, Riad; Taiuti, Mauro; Tedeschi, David; Tkabladze, Avtandil; Tkachenko, Svyatoslav; Todor, Luminita; Ungaro, Maurizio; V

    2009-02-01

    The spin structure functions $g_1$ for the proton and the deuteron have been measured over a wide kinematic range in $x$ and \\Q2 using 1.6 and 5.7 GeV longitudinally polarized electrons incident upon polarized NH$_3$ and ND$_3$ targets at Jefferson Lab. Scattered electrons were detected in the CEBAF Large Acceptance Spectrometer, for $0.05 < Q^2 < 5 $\\ GeV$^2$ and $W < 3$ GeV. The first moments of $g_1$ for the proton and deuteron are presented -- both have a negative slope at low \\Q2, as predicted by the extended Gerasimov-Drell-Hearn sum rule. The first result for the generalized forward spin polarizability of the proton $\\gamma_0^p$ is also reported, and shows evidence of scaling above $Q^2$ = 1.5 GeV$^2$. Although the first moments of $g_1$ are consistent with Chiral Perturbation Theory (\\ChPT) calculations up to approximately $Q^2 = 0.06$ GeV$^2$, a significant discrepancy is observed between the $\\gamma_0^p$ data and \\ChPT\\ for $\\gamma_0^p$,even at the lowest \\Q2.

  13. Differential DNA methylation at birth associated with mental disorder in individuals with 22q11.2 deletion syndrome

    DEFF Research Database (Denmark)

    Starnawska, A; Hansen, C S; Sparsø, T

    2017-01-01

    Individuals with 22q11.2 deletion syndrome (DS) have an increased risk of comorbid mental disorders including schizophrenia, attention deficit hyperactivity disorder, depression, as well as intellectual disability. Although most 22q11.2 deletion carriers have the long 3-Mb form of the hemizygous...... deletion, there remains a large variation in the development and progression of psychiatric disorders, which suggests that alternative factors contribute to the pathogenesis. In this study we investigated whether neonatal DNA methylation signatures in individuals with the 22q11.2 deletion associate...

  14. Main: 1M2Q [RPSD[Archive

    Lifescience Database Archive (English)

    Full Text Available 1M2Q トウモロコシ Corn Zea mays L. Casein Kinase Ii, Alpha Chain Name=Ack2; Zea Mays Mole...cule: Casein Kinase Ii, Alpha Chain; Chain: A; Fragment: Catlytic Subunit; Synonym: Ckii; Engineered: Yes Tr...ansferase 2.7.1.37 (Casein Kinase Ii, Alpha Chain) E.De Moliner, S.Sarno, S.Moro, G.Zagotto, G.Zanotti, L.A....=2-326.|PDB; 1M2Q; X-ray; A=2-328.|PDB; 1M2R; X-ray; A=2-328.|PDB; 1OM1; X-ray; A=1-332.|Mai

  15. Mass spectra for q c q ¯ c ¯, s c s ¯ c ¯, q b q ¯ ¯, s b s ¯ ¯ tetraquark states with JP C=0++ and 2++

    Science.gov (United States)

    Chen, Wei; Chen, Hua-Xing; Liu, Xiang; Steele, T. G.; Zhu, Shi-Lin

    2017-12-01

    We have studied the mass spectra of the hidden-charm/bottom q c q ¯c ¯, s c s ¯c ¯ and q b q ¯b ¯, s b s ¯b ¯ tetraquark states with JP C=0++ and 2++ in the framework of QCD sum rules. We construct ten scalar and four tensor interpolating currents in a systematic way and calculate the mass spectra for these tetraquark states. The X*(3860 ) may be either an isoscalar tetraquark state or χc 0(2 P ). If the X*(3860 ) is a tetraquark candidate, our results prefer the 0++ option over the 2++ one. The X (4160 ) may be classified as either the scalar or tensor q c q ¯c ¯ tetraquark state, while the X (3915 ) favors a 0++ q c q ¯c ¯ or s c s ¯c ¯ tetraquark assignment over the tensor one. The X (4350 ) cannot be interpreted as a s c s ¯c ¯ tetraquark with either JP C=0++ or 2++.

  16. Measurement of the electron--deuteron elastic scattering cross section in the range 0.8 less than or equal to q2 less than or equal to 6 GeV2

    International Nuclear Information System (INIS)

    Arnold, R.G.; Chertok, B.T.; Dally, E.B.; Grigorian, A.; Jordan, C.L.; Schuetz, W.P.; Zdarko, R.; Martin, F.; Mecking, B.A.

    1975-06-01

    Preliminary results of elastic eD scattering at large momentum transfer performed at the Stanford Linear Accelerator Center using two high resolution spectrometers in coincidence are reported. The deuteron structure function A(q 2 ) is deduced at 9 values of q 2 from a comparison of elastic eD and eP coincident yields and the world's eP cross sections. These measurements extend the range of q 2 by 4.5 over previous work, and in this new range A(q 2 ) is observed to approach 1/q 20 momentum dependence. Results are in sharp disagreement with the meson exchange calculations, and they are in rough agreement with the nonrelativistic potential models, and they are in agreement with the predictions of the quark dimensional scaling model which pictures the deuteron as a bound state of 6 quarks at large momentum transfer

  17. 22q11.2 deletion syndrome

    Science.gov (United States)

    McDonald-McGinn, Donna M.; Sullivan, Kathleen E.; Marino, Bruno; Philip, Nicole; Swillen, Ann; Vorstman, Jacob A. S.; Zackai, Elaine H.; Emanuel, Beverly S.; Vermeesch, Joris R.; Morrow, Bernice E.; Scambler, Peter J.; Bassett, Anne S.

    2016-01-01

    22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made in the 1960s in children with DiGeorge syndrome, who presented with the clinical triad of immunodeficiency, hypoparathyroidism and congenital heart disease. The syndrome is now known to have a heterogeneous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as palatal, gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioural phenotypes and psychiatric illness — all far extending the original description of DiGeorge syndrome. Management requires a multidisciplinary approach involving paediatrics, general medicine, surgery, psychiatry, psychology, interventional therapies (physical, occupational, speech, language and behavioural) and genetic counselling. Although common, lack of recognition of the condition and/or lack of familiarity with genetic testing methods, together with the wide variability of clinical presentation, delays diagnosis. Early diagnosis, preferably prenatally or neonatally, could improve outcomes, thus stressing the importance of universal screening. Equally important, 22q11.2DS has become a model for understanding rare and frequent congenital anomalies, medical conditions, psychiatric and developmental disorders, and may provide a platform to better understand these disorders while affording opportunities for translational strategies across the lifespan for both patients with 22q11.2DS and those with these associated features in the general population. PMID:27189754

  18. Constacyclic codes over the ring F_q+v{F}_q+v2F_q and their applications of constructing new non-binary quantum codes

    Science.gov (United States)

    Ma, Fanghui; Gao, Jian; Fu, Fang-Wei

    2018-06-01

    Let R={F}_q+v{F}_q+v2{F}_q be a finite non-chain ring, where q is an odd prime power and v^3=v. In this paper, we propose two methods of constructing quantum codes from (α +β v+γ v2)-constacyclic codes over R. The first one is obtained via the Gray map and the Calderbank-Shor-Steane construction from Euclidean dual-containing (α +β v+γ v2)-constacyclic codes over R. The second one is obtained via the Gray map and the Hermitian construction from Hermitian dual-containing (α +β v+γ v2)-constacyclic codes over R. As an application, some new non-binary quantum codes are obtained.

  19. q-Deformed KP Hierarchy and q-Deformed Constrained KP Hierarchy

    OpenAIRE

    He, Jingsong; Li, Yinghua; Cheng, Yi

    2006-01-01

    Using the determinant representation of gauge transformation operator, we have shown that the general form of $au$ function of the $q$-KP hierarchy is a $q$-deformed generalized Wronskian, which includes the $q$-deformed Wronskian as a special case. On the basis of these, we study the $q$-deformed constrained KP ($q$-cKP) hierarchy, i.e. $l$-constraints of $q$-KP hierarchy. Similar to the ordinary constrained KP (cKP) hierarchy, a large class of solutions of $q$-cKP hierarchy can be represent...

  20. Multi-q Mesoscale Magnetism in CeAuSb2

    DEFF Research Database (Denmark)

    Marcus, Guy G.; Kim, Dae-Jeong; Tutmaher, Jacob A.

    2018-01-01

    We report the discovery of a field driven transition from a single-q to multi-q spin density wave (SDW) in the tetragonal heavy fermion compound CeAuSb2. Polarized along c, the sinusoidal SDW amplitude is 1.8ð2ÞμB/Ce for T ≪ TN ¼ 6.25ð10Þ K with a wave vector q1 ¼ ðη; η; 1/2Þ ½η ¼ 0.136ð2Þ. For H...

  1. Lower bounds for ν and Q2 values leading to scaling in the simple parton model

    International Nuclear Information System (INIS)

    Nataf, R.S.

    1979-06-01

    The simple parton model leads to the Bjorken scaling law only for rather large values of the transfer. For small values, the scale invariance is broken by a purely kinematical effect which is shown to depend on: (1+(4M 2 x 2 /Q 2 ))sup(1/2)-1, M being the mass of the target nucleon. Thus, one has to consider: ν>=5M (5GeV) and: Q 2 >=10M 2 x (9GeV/c) 2 for the whole x range) if it is demanded that scaling holds within 10% to error

  2. Jet Production in ep Collisions at High $Q^2$ and Determination of $\\alpha_s$

    CERN Document Server

    Aaron, F.D.; Alimujiang, K.; Andreev, V.; Antunovic, B.; Asmone, A.; Backovic, S.; Baghdasaryan, A.; Barrelet, E.; Bartel, W.; Begzsuren, K.; Belousov, A.; Bizot, J.C.; Boudry, V.; Bozovic-Jelisavcic, I.; Bracinik, J.; Brandt, G.; Brinkmann, M.; Brisson, V.; Bruncko, D.; Bunyatyan, A.; Buschhorn, G.; Bystritskaya, L.; Campbell, A.J.; Cantun Avila, K.B.; Cassol-Brunner, F.; Cerny, K.; Cerny, V.; Chekelian, V.; Cholewa, A.; Contreras, J.G.; Coughlan, J.A.; Cozzika, G.; Cvach, J.; Dainton, J.B.; Daum, K.; Deak, M.; de Boer, Y.; Delcourt, B.; Del Degan, M.; Delvax, J.; De Roeck, A.; De Wolf, E.A.; Diaconu, C.; Dodonov, V.; Dossanov, A.; Dubak, A.; Eckerlin, G.; Efremenko, V.; Egli, S.; Eliseev, A.; Elsen, E.; Falkiewicz, A.; Faulkner, P.J.W.; Favart, L.; Fedotov, A.; Felst, R.; Feltesse, J.; Ferencei, J.; Fischer, D.-J.; Fleischer, M.; Fomenko, A.; Gabathuler, E.; Gayler, J.; Ghazaryan, Samvel; Glazov, A.; Glushkov, I.; Goerlich, L.; Gogitidze, N.; Gouzevitch, M.; Grab, C.; Greenshaw, T.; Grell, B.R.; Grindhammer, G.; Habib, S.; Haidt, D.; Helebrant, C.; Henderson, R.C.W.; Hennekemper, E.; Henschel, H.; Herbst, M.; Herrera, G.; Hildebrandt, M.; Hiller, K.H.; Hoffmann, D.; Horisberger, R.; Hreus, T.; Jacquet, M.; Janssen, M.E.; Janssen, X.; Jemanov, V.; Jonsson, L.; Jung, Andreas Werner; Jung, H.; Kapichine, M.; Katzy, J.; Kenyon, I.R.; Kiesling, C.; Klein, M.; Kleinwort, C.; Kluge, T.; Knutsson, A.; Kogler, R.; Korbel, V.; Kostka, P.; Kraemer, M.; Krastev, K.; Kretzschmar, J.; Kropivnitskaya, A.; Kruger, K.; Kutak, K.; Landon, M.P.J.; Lange, W.; Lastovicka-Medin, G.; Laycock, P.; Lebedev, A.; Leibenguth, G.; Lendermann, V.; Levonian, S.; Li, G.; Lipka, K.; Liptaj, A.; List, B.; List, J.; Loktionova, N.; Lopez-Fernandez, R.; Lubimov, V.; Lytkin, L.; Makankine, A.; Malinovski, E.; Marage, P.; Marti, Ll.; Martyn, H.-U.; Maxfield, S.J.; Mehta, A.; Meyer, A.B.; Meyer, H.; Meyer, H.; Meyer, J.; Michels, V.; Mikocki, S.; Milcewicz-Mika, I.; Moreau, F.; Morozov, A.; Morris, J.V.; Mozer, Matthias Ulrich; Mudrinic, M.; Muller, K.; Murin, P.; Naroska, B.; Naumann, Th.; Newman, P.R.; Niebuhr, C.; Nikiforov, A.; Nowak, G.; Nowak, K.; Nozicka, M.; Olivier, B.; Olsson, J.E.; Osman, S.; Ozerov, D.; Palichik, V.; Panagoulias, I.; Pandurovic, M.; Papadopoulou, Th.; Pascaud, C.; Patel, G.D.; Pejchal, O.; Perez, E.; Petrukhin, A.; Picuric, I.; Piec, S.; Pitzl, D.; Placakyte, R.; Pokorny, B.; Polifka, R.; Povh, B.; Preda, T.; Radescu, V.; Rahmat, A.J.; Raicevic, N.; Raspiareza, A.; Ravdandorj, T.; Reimer, P.; Rizvi, E.; Robmann, P.; Roland, B.; Roosen, R.; Rostovtsev, A.; Rotaru, M.; Ruiz Tabasco, J.E.; Rurikova, Z.; Rusakov, S.; Salek, D.; Sankey, D.P.C.; Sauter, M.; Sauvan, E.; Schmitt, S.; Schmitz, C.; Schoeffel, L.; Schoning, A.; Schultz-Coulon, H.-C.; Sefkow, F.; Shaw-West, R.N.; Sheviakov, I.; Shtarkov, L.N.; Shushkevich, S.; Sloan, T.; Smiljanic, Ivan; Soloviev, Y.; Sopicki, P.; South, D.; Spaskov, V.; Specka, Arnd E.; Staykova, Z.; Steder, M.; Stella, B.; Stoicea, G.; Straumann, U.; Sunar, D.; Sykora, T.; Tchoulakov, V.; Thompson, G.; Thompson, P.D.; Toll, T.; Tomasz, F.; Tran, T.H.; Traynor, D.; Trinh, T.N.; Truol, P.; Tsakov, I.; Tseepeldorj, B.; Turnau, J.; Urban, K.; Valkarova, A.; Vallee, C.; Van Mechelen, P.; Vargas Trevino, A.; Vazdik, Y.; Vinokurova, S.; Volchinski, V.; von den Driesch, M.; Wegener, D.; Wissing, Ch.; Wunsch, E.; Zacek, J.; Zalesak, J.; Zhang, Z.; Zhokin, A.; Zimmermann, T.; Zohrabyan, H.; Zomer, F.; Zus, R.

    2010-01-01

    The production of jets is studied in deep-inelastic ep scattering at large negative four momentum transfer squared 150<Q^2<15000 GeV^2 using HERA data taken in 1999-2007, corresponding to an integrated luminosity of 395 pb^-1. Inclusive jet, 2-jet and 3-jet cross sections, normalised to the neutral current deep-inelastic scattering cross sections, are measured as functions of Q^2, jet transverse momentum and proton momentum fraction. The measurements are well described by perturbative QCD calculations at next-to-leading order corrected for hadronisation effects. The strong coupling as determined from these measurements is alpha_s(M_Z) = 0.1168 +/-0.0007 (exp.) +0.0046/-0.0030 (th.) +/-0.0016(pdf).

  3. Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders.

    Directory of Open Access Journals (Sweden)

    Anthony R Isles

    2016-05-01

    Full Text Available Duplications at 15q11.2-q13.3 overlapping the Prader-Willi/Angelman syndrome (PWS/AS region have been associated with developmental delay (DD, autism spectrum disorder (ASD and schizophrenia (SZ. Due to presence of imprinted genes within the region, the parental origin of these duplications may be key to the pathogenicity. Duplications of maternal origin are associated with disease, whereas the pathogenicity of paternal ones is unclear. To clarify the role of maternal and paternal duplications, we conducted the largest and most detailed study to date of parental origin of 15q11.2-q13.3 interstitial duplications in DD, ASD and SZ cohorts. We show, for the first time, that paternal duplications lead to an increased risk of developing DD/ASD/multiple congenital anomalies (MCA, but do not appear to increase risk for SZ. The importance of the epigenetic status of 15q11.2-q13.3 duplications was further underlined by analysis of a number of families, in which the duplication was paternally derived in the mother, who was unaffected, whereas her offspring, who inherited a maternally derived duplication, suffered from psychotic illness. Interestingly, the most consistent clinical characteristics of SZ patients with 15q11.2-q13.3 duplications were learning or developmental problems, found in 76% of carriers. Despite their lower pathogenicity, paternal duplications are less frequent in the general population with a general population prevalence of 0.0033% compared to 0.0069% for maternal duplications. This may be due to lower fecundity of male carriers and differential survival of embryos, something echoed in the findings that both types of duplications are de novo in just over 50% of cases. Isodicentric chromosome 15 (idic15 or interstitial triplications were not observed in SZ patients or in controls. Overall, this study refines the distinct roles of maternal and paternal interstitial duplications at 15q11.2-q13.3, underlining the critical importance of

  4. Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders

    Science.gov (United States)

    Isles, Anthony R.; Ingason, Andrés; Lowther, Chelsea; Gawlick, Micha; Stöber, Gerald; Potter, Harry; Georgieva, Lyudmila; Pizzo, Lucilla; Ozaki, Norio; Kushima, Itaru; Ikeda, Masashi; Iwata, Nakao; Levinson, Douglas F.; Gejman, Pablo V.; Shi, Jianxin; Sanders, Alan R.; Duan, Jubao; Sisodiya, Sanjay; Costain, Gregory; Degenhardt, Franziska; Giegling, Ina; Rujescu, Dan; Hreidarsson, Stefan J.; Saemundsen, Evald; Ahn, Joo Wook; Ogilvie, Caroline; Stefansson, Hreinn; Stefansson, Kari; O’Donovan, Michael C.; Owen, Michael J.; Bassett, Anne; Kirov, George

    2016-01-01

    Duplications at 15q11.2-q13.3 overlapping the Prader-Willi/Angelman syndrome (PWS/AS) region have been associated with developmental delay (DD), autism spectrum disorder (ASD) and schizophrenia (SZ). Due to presence of imprinted genes within the region, the parental origin of these duplications may be key to the pathogenicity. Duplications of maternal origin are associated with disease, whereas the pathogenicity of paternal ones is unclear. To clarify the role of maternal and paternal duplications, we conducted the largest and most detailed study to date of parental origin of 15q11.2-q13.3 interstitial duplications in DD, ASD and SZ cohorts. We show, for the first time, that paternal duplications lead to an increased risk of developing DD/ASD/multiple congenital anomalies (MCA), but do not appear to increase risk for SZ. The importance of the epigenetic status of 15q11.2-q13.3 duplications was further underlined by analysis of a number of families, in which the duplication was paternally derived in the mother, who was unaffected, whereas her offspring, who inherited a maternally derived duplication, suffered from psychotic illness. Interestingly, the most consistent clinical characteristics of SZ patients with 15q11.2-q13.3 duplications were learning or developmental problems, found in 76% of carriers. Despite their lower pathogenicity, paternal duplications are less frequent in the general population with a general population prevalence of 0.0033% compared to 0.0069% for maternal duplications. This may be due to lower fecundity of male carriers and differential survival of embryos, something echoed in the findings that both types of duplications are de novo in just over 50% of cases. Isodicentric chromosome 15 (idic15) or interstitial triplications were not observed in SZ patients or in controls. Overall, this study refines the distinct roles of maternal and paternal interstitial duplications at 15q11.2-q13.3, underlining the critical importance of maternally

  5. Two new ternary chalcogenides Ba{sub 2}ZnQ{sub 3} (Q = Se, Te) with chains of ZnQ{sub 4} tetrahedra. Syntheses, crystal structure, and optical and electronic properties

    Energy Technology Data Exchange (ETDEWEB)

    Prakash, Jai; Beard, Jessica; Malliakas, Christos D.; Ibers, James A. [Northwestern Univ., Evanston, IL (United States). Dept. of Chemistry; Mesbah, Adel [Northwestern Univ., Evanston, IL (United States). Dept. of Chemistry; ICSM, UMR 5257 CEA/CNRS/UM2/ENSCM, Bagnols-sur-Ceze (France); Rocca, Dario; Lebegue, Sebastien [Univ. de Lorraine, Vandoeuvre-les-Nancy (France). Lab. de Cristallographie, Resonance Magnetique et Modelisations (CRM2, UMR CNRS 7036)

    2016-08-01

    Single crystals of Ba{sub 2}ZnQ{sub 3} (Q = Se, Te) were obtained by solid-state reactions at 1173 K. These isostructural compounds crystallize in the K{sub 2}AgI{sub 3} structure type. The Zn atoms in this structure are coordinated to four Q atoms (2 Q1, 1 Q2, 1 Q3) and these form a distorted tetrahedron around each Zn atom. Each ZnQ{sub 4} tetrahedron shares two corners with neighboring ZnQ{sub 4} tetrahedra resulting in the formation of infinite chains of [ZnQ{sub 4}{sup 4-}] units. The absorption spectrum of a single crystal of Ba{sub 2}ZnTe{sub 3} shows an absorption edge at 2.10(2) eV, consistent with the dark-red color of the crystals. From DFT calculations Ba{sub 2}ZnSe{sub 3} and Ba{sub 2}ZnTe{sub 3} are found to be semiconductors with electronic band gaps of 2.6 and 1.9 eV, respectively.

  6. Electrofission of the deuteron in the region of the Δ(1232) resonance at proton laboratory angles of 44, 56, and 68 degrees

    International Nuclear Information System (INIS)

    Schmitz, H.H.

    1990-06-01

    In this experiment the deuteron-electrodisintegration was measured at an average four-momentum transfer Q 2 =0.122 (GEV/c) 2 in the invariant hadronic mass range of 2.02-2.30 GeV. The outgoing proton was detected in coincidence with the scattered electron at three different adjustments of the spectrometer, which covered the proton c.m. angle Θ γp cm =0-60deg. The measured differential cross sections show the influence of the excitation of the Δ(1232)-resonance in the deuteron. The experimental values are compared to theoretical calculations which include meson exchange currents, final state interactions and isobar contributions. (orig.)

  7. NEUROD2 and NEUROD3 genes map to human chromosomes 17q12 and 5q23-q31 and mouse chromosomes 11 and 13, respectively

    Energy Technology Data Exchange (ETDEWEB)

    Tamimi, R.M.; Montgomery-Dyer, K.; Tapscott, S.J. [Fred Hutchinson Cancer Research Center, Seattle, WA (United States)] [and others

    1997-03-01

    NEUROD2 and NEUROD3 are transcription factors involved in neurogenesis that are related to the basic helix-loop-helix protein NEUROD. NEUROD2 maps to human chromosome 17q12 and mouse chromosome 11. NEUROD3 maps to human chromosome 5q23-q31 and mouse chromosome 13. 16 refs., 2 figs.

  8. THE ROTATION PERIOD OF C/2014 Q2 (LOVEJOY)

    Energy Technology Data Exchange (ETDEWEB)

    Serra-Ricart, Miquel; Licandro, Javier, E-mail: mserra@iac.es, E-mail: jlicandr@iac.es [Instituto de Astrofísica de Canarias, c/Vía Láctea, s/n, E-38200 La Laguna, Tenerife (Spain)

    2015-11-20

    C/2014 Q2 (Lovejoy) was observed around perihelion (2015 January 30) on 15 nights between 2015 January 21 and February 11 using the TADer 0.3-m astrograph telescope at Teide Observatory (IAC, Tenerife, Spain). Two large spiral jet structures were observed over several cometary rotations. A new method of searching for periodicities in the PA of spiral jets in the coma region at a fixed distance (20,624 km) from the cometary optocenter is presented and used to determine a nuclear rotation period of 17.89 ± 0.17 hr.

  9. Measurement of the photon structure function F/sub 2/sup(. gamma. ) at Q/sup 2/ from 7 to 70 (GeV/c)/sup 2/

    Energy Technology Data Exchange (ETDEWEB)

    Althoff, M; Braunschweig, W; Gerhards, R; Kirschfink, F J; Martyn, H U; Rosskamp, P; Wallraff, W; Bock, B; Eisenmann, J; Fischer, H M

    1986-08-01

    We have measured the process e/sup +/e/sup -/->e/sup +/e/sup -/+hadrons, where one of the scattered electrons was detected at large angles, with Q/sup 2/ ranging from 7 to 70 (GeV/c)/sup 2/. The photon structure function F/sub 2/sup(..gamma..)(x, Q/sup 2/) was determined at an average Q/sup 2/ of 23 (GeV/c)/sup 2/. The measurements were compared to theoretical predictions of the Quark Parton Model and Quantum Chromodynamics. In both models a hadronic part was added. Within the errors the data are in agreement with the QPM using quark masses of 300 MeV/c/sup 2/ for the light quarks. The data also agree with a QCD calculation including higher order corrections. A fit yielded a ..lambda..sub(anti M)anti S) value of 140(+190-65) MeV, where the errors include statistical and systematic uncertainties.

  10. Skew cyclic codes over F_q+uF_q+vF_q+uvF_q

    Directory of Open Access Journals (Sweden)

    Ting Yao

    2015-09-01

    Full Text Available In this paper, we study skew cyclic codes over the ring $R=F_q+uF_q+vF_q+uvF_q$, where $u^{2}=u,v^{2}=v,uv=vu$, $q=p^{m}$ and $p$ is an odd prime. We investigate the structural properties of skew cyclic codes over $R$ through a decomposition theorem. Furthermore, we give a formula for the number of skew cyclic codes of length $n$ over $R.$

  11. Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4.

    Science.gov (United States)

    Alvarado, David M; Aferol, Hyuliya; McCall, Kevin; Huang, Jason B; Techy, Matthew; Buchan, Jillian; Cady, Janet; Gonzales, Patrick R; Dobbs, Matthew B; Gurnett, Christina A

    2010-07-09

    Clubfoot is a common musculoskeletal birth defect for which few causative genes have been identified. To identify the genes responsible for isolated clubfoot, we screened for genomic copy-number variants with the Affymetrix Genome-wide Human SNP Array 6.0. A recurrent chromosome 17q23.1q23.2 microduplication was identified in 3 of 66 probands with familial isolated clubfoot. The chromosome 17q23.1q23.2 microduplication segregated with autosomal-dominant clubfoot in all three families but with reduced penetrance. Mild short stature was common and one female had developmental hip dysplasia. Subtle skeletal abnormalities consisted of broad and shortened metatarsals and calcanei, small distal tibial epiphyses, and thickened ischia. Several skeletal features were opposite to those described in the reciprocal chromosome 17q23.1q23.2 microdeletion syndrome associated with developmental delay and cardiac and limb abnormalities. Of note, during our study, we also identified a microdeletion at the locus in a sibling pair with isolated clubfoot. The chromosome 17q23.1q23.2 region contains the T-box transcription factor TBX4, a likely target of the bicoid-related transcription factor PITX1 previously implicated in clubfoot etiology. Our result suggests that this chromosome 17q23.1q23.2 microduplication is a relatively common cause of familial isolated clubfoot and provides strong evidence linking clubfoot etiology to abnormal early limb development. Copyright 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  12. Finite-dimensional representations of the quantum superalgebra Uq[gl(2/2)]: 1. Typical representations at generic q

    International Nuclear Information System (INIS)

    Nguyen Anh Ky.

    1993-05-01

    In the present paper we construct all typical finite-dimensional representations of the quantum Lie superalgebra U q [gl(2/2)] at generic deformation parameter q. As in the non-deformed case the finite-dimensional U q [gl(2/2)]-module W q obtained is irreducible and can be decomposed into finite-dimensional irreducible U q [l(2)+gl(2)]submodules V i q . (authohor). 32 refs

  13. The O(α3s) Heavy Flavor Contributions to the Charged Current Structure Function xF3(x,Q2) at Large Momentum Transfer

    International Nuclear Information System (INIS)

    Behring, A.; Bluemlein, J.; Freitas, A. de; Johannes Kepler Univ., Linz; Hasselhuhn, A.; Manteuffel, A. von; Schneider, C.

    2015-08-01

    We calculate the massive Wilson coefficients for the heavy flavor contributions to the non-singlet charged current deep-inelastic scattering structure function xF W+ 3 (x,Q 2 )+xF W- 3 (x,Q 2 ) in the asymptotic region Q 2 >>m 2 to 3-loop order in Quantum Chromodynamics (QCD) at general values of the Mellin variable N and the momentum fraction x. Besides the heavy quark pair production also the single heavy flavor excitation s→c contributes. Numerical results are presented for the charm quark contributions and consequences on the Gross-Llewellyn Smith sum rule are discussed.

  14. MEASUREMENT OF THE HIGH-FIELD Q-DROP IN A LARGE-GRAIN NIOBIUM CAVITY FOR DIFFERENT OXIDATION PROCESSES

    International Nuclear Information System (INIS)

    Gianluigi Ciovati; Peter Kneisel; Alex Gurevich

    2008-01-01

    In this contribution, we present the results from a series of RF tests at 1.7 K and 2.0 K on a single-cell cavity made of high-purity large (with area of the order of few cm2) grain niobium which underwent various oxidation processes. After initial buffered chemical polishing, anodization, baking in pure oxygen atmosphere and baking in air up to 180 C was applied with the objective of clearly identifying the role of oxygen and the oxide layer on the Q-drop. During each rf test a temperature mapping system was used allowing to measure the local temperature rise of the cavity outer surface due to RF losses, which gives information about the losses location, their field dependence and space distribution on the RF surface. The results confirmed that the depth affected by baking is about 20-30 nm from the surface and showed that the Q-drop did not re-appear in a previously baked cavity by further baking at 120 C in pure oxygen atmosphere or in air up to 180 C. A statistic of the position of the ''hot-spots'' on the cavity surface showed that grain-boundaries are not the preferred location. An interesting correlation was found between the Q-drop onset, the quench field and the low-field energy gap, which supports the hypothesis of thermomagnetic instability governing the Q-drop and the baking effect.

  15. MEASUREMENT OF THE HIGH-FIELD Q-DROP IN A LARGE-GRAIN NIOBIUM CAVITY FOR DIFFERENT OXIDATION PROCESSES

    Energy Technology Data Exchange (ETDEWEB)

    Gianluigi Ciovati; Peter Kneisel; Alex Gurevich

    2008-01-23

    In this contribution, we present the results from a series of RF tests at 1.7 K and 2.0 K on a single-cell cavity made of high-purity large (with area of the order of few cm2) grain niobium which underwent various oxidation processes. After initial buffered chemical polishing, anodization, baking in pure oxygen atmosphere and baking in air up to 180 °C was applied with the objective of clearly identifying the role of oxygen and the oxide layer on the Q-drop. During each rf test a temperature mapping system was used allowing to measure the local temperature rise of the cavity outer surface due to RF losses, which gives information about the losses location, their field dependence and space distribution on the RF surface. The results confirmed that the depth affected by baking is about 20 – 30 nm from the surface and showed that the Q-drop did not re-appear in a previously baked cavity by further baking at 120 °C in pure oxygen atmosphere or in air up to 180 °C. A statistic of the position of the “hot-spots” on the cavity surface showed that grain-boundaries are not the preferred location. An interesting correlation was found between the Q-drop onset, the quench field and the low-field energy gap, which supports the hypothesis of thermo-magnetic instability governing the Q-drop and the baking effect.

  16. Integrable Equations of the Form qt=L1(x,t,q,qx,qxx)qxxx+L2(x,t,q,qx,qxx)

    International Nuclear Information System (INIS)

    Satir, Ahmet

    2003-01-01

    Integrable equations of the form q t =L 1 (x,t,q,q x ,q xx )q xxx +L 2 (x,t,q,q x ,q xx ) are considered using linearization. A new type of integrable equations which are the generalization of the integrable equations of Fokas and Ibragimov and Shabat are given

  17. Q(n) species distribution in K2O.2SiO2 glass by 29Si magic angle flipping NMR.

    Science.gov (United States)

    Davis, Michael C; Kaseman, Derrick C; Parvani, Sahar M; Sanders, Kevin J; Grandinetti, Philip J; Massiot, Dominique; Florian, Pierre

    2010-05-06

    Two-dimensional magic angle flipping (MAF) was employed to measure the Q((n)) distribution in a (29)Si-enriched potassium disilicate glass (K(2)O.2SiO(2)). Relative concentrations of [Q((4))] = 7.2 +/- 0.3%, [Q((3))] = 82.9 +/- 0.1%, and [Q((2))] = 9.8 +/- 0.6% were obtained. Using the thermodynamic model for Q((n)) species disproportionation, these relative concentrations yield an equilibrium constant k(3) = 0.0103 +/- 0.0008, indicating, as expected, that the Q((n)) species distribution is close to binary in the potassium disilicate glass. A Gaussian distribution of isotropic chemical shifts was observed for each Q((n)) species with mean values of -82.74 +/- 0.03, -91.32 +/- 0.01, and -101.67 +/- 0.02 ppm and standard deviations of 3.27 +/- 0.03, 4.19 +/- 0.01, and 5.09 +/- 0.03 ppm for Q((2)), Q((3)), and Q((4)), respectively. Additionally, nuclear shielding anisotropy values of zeta =-85.0 +/- 1.3 ppm, eta = 0.48 +/- 0.02 for Q((2)) and zeta = -74.9 +/- 0.2 ppm, eta = 0.03 +/- 0.01 for Q((3)) were observed in the potassium disilicate glass.

  18. Mapping 22q11.2 Gene Dosage Effects on Brain Morphometry.

    Science.gov (United States)

    Lin, Amy; Ching, Christopher R K; Vajdi, Ariana; Sun, Daqiang; Jonas, Rachel K; Jalbrzikowski, Maria; Kushan-Wells, Leila; Pacheco Hansen, Laura; Krikorian, Emma; Gutman, Boris; Dokoru, Deepika; Helleman, Gerhard; Thompson, Paul M; Bearden, Carrie E

    2017-06-28

    Reciprocal chromosomal rearrangements at the 22q11.2 locus are associated with elevated risk of neurodevelopmental disorders. The 22q11.2 deletion confers the highest known genetic risk for schizophrenia, but a duplication in the same region is strongly associated with autism and is less common in schizophrenia cases than in the general population. Here we conducted the first study of 22q11.2 gene dosage effects on brain structure in a sample of 143 human subjects: 66 with 22q11.2 deletions (22q-del; 32 males), 21 with 22q11.2 duplications (22q-dup; 14 males), and 56 age- and sex-matched controls (31 males). 22q11.2 gene dosage varied positively with intracranial volume, gray and white matter volume, and cortical surface area (deletion control > duplication). Widespread differences were observed for cortical surface area with more localized effects on cortical thickness. These diametric patterns extended into subcortical regions: 22q-dup carriers had a significantly larger right hippocampus, on average, but lower right caudate and corpus callosum volume, relative to 22q-del carriers. Novel subcortical shape analysis revealed greater radial distance (thickness) of the right amygdala and left thalamus, and localized increases and decreases in subregions of the caudate, putamen, and hippocampus in 22q-dup relative to 22q-del carriers. This study provides the first evidence that 22q11.2 is a genomic region associated with gene-dose-dependent brain phenotypes. Pervasive effects on cortical surface area imply that this copy number variant affects brain structure early in the course of development. SIGNIFICANCE STATEMENT Probing naturally occurring reciprocal copy number variation in the genome may help us understand mechanisms underlying deviations from typical brain and cognitive development. The 22q11.2 genomic region is particularly susceptible to chromosomal rearrangements and contains many genes crucial for neuronal development and migration. Not surprisingly

  19. Association between prematurity and the evolution of psychotic disorders in 22q11.2 deletion syndrome.

    Science.gov (United States)

    Midbari Kufert, Yael; Nachmani, Ariela; Nativ, Einat; Weizman, Abraham; Gothelf, Doron

    2016-12-01

    In this study, we report the developmental, physical and psychiatric manifestations of 22q11.2 deletion syndrome (22q11.2DS) in a large Israeli cohort, and search for a possible association between preterm birth and the risk for psychotic disorders. The study population consisted of 128 individuals with 22q11.2DS (77 male, 51 female), aged 1-55 years (mean ± SD 12.9 ± 11.0). All subjects underwent a comprehensive medical evaluation. All subjects older than 5 years (n = 104) were also evaluated psychiatrically. Overall, we found rates of physical manifestations similar to those previously reported in the literature. Psychiatric disorders were very common among our study population, with psychotic disorders occurring in 16.3 % of the psychiatrically evaluated population. We found an association between the presence of psychotic disorders and preterm birth. Our results replicate and extend the findings of a previous work and suggest that the evolution of psychosis in 22q11.2DS is a neurodevelopmental process with early obstetric and medical precursors.

  20. Mellin moments of heavy flavor contributions to F{sub 2}(x,Q{sup 2}) at NNLO

    Energy Technology Data Exchange (ETDEWEB)

    Klein, Sebastian Werner Gerhard

    2009-10-15

    The main parts of this thesis are the extension of the description of the contributions of heavy quark mass-effects to the deep-inelastic Wilson coefficients to NNLO. In course of that, we also obtain a first independent calculation of fixed moments of the fermionic parts of the NNLO anomalous dimensions. The calculation of the 3-loop heavy flavor Wilson coefficients in the whole Q{sup 2} region is currently not within reach. However, a very precise description of the heavy flavor Wilson coefficients contributing to the structure function F{sub 2}(x,Q{sup 2}) at NLO is obtained for Q{sup 2} >or similar 10 m{sub Q}{sup 2}, disregarding the power corrections {proportional_to}(m{sub Q}{sup 2}/Q{sup 2}){sup k}, k {>=} 1. If one considers the charm quark, this covers an important region for deep-inelastic physics at HERA. In this limit, the massive Wilson coefficients factorize into universal massive operator matrix elements (OMEs) A{sub ij}(x, {mu}{sup 2}/m{sub Q}{sup 2}) and the light flavor Wilson coefficients C{sub (q,g),(2,L)}(x,Q{sup 2}/{mu}{sup 2}). The former are process independent quantities and describe all quark mass effects. They are given by matrix elements of the leading twist local composite operators O{sub i} between partonic states j (i, j = q, g), including quark masses. The process dependence is described by the massless Wilson coefficients. (orig.)

  1. A large-scale rheumatoid arthritis genetic study identifies association at chromosome 9q33.2.

    Directory of Open Access Journals (Sweden)

    Monica Chang

    2008-06-01

    Full Text Available Rheumatoid arthritis (RA is a chronic, systemic autoimmune disease affecting both joints and extra-articular tissues. Although some genetic risk factors for RA are well-established, most notably HLA-DRB1 and PTPN22, these markers do not fully account for the observed heritability. To identify additional susceptibility loci, we carried out a multi-tiered, case-control association study, genotyping 25,966 putative functional SNPs in 475 white North American RA patients and 475 matched controls. Significant markers were genotyped in two additional, independent, white case-control sample sets (661 cases/1322 controls from North America and 596 cases/705 controls from The Netherlands identifying a SNP, rs1953126, on chromosome 9q33.2 that was significantly associated with RA (OR(common = 1.28, trend P(comb = 1.45E-06. Through a comprehensive fine-scale-mapping SNP-selection procedure, 137 additional SNPs in a 668 kb region from MEGF9 to STOM on 9q33.2 were chosen for follow-up genotyping in a staged-approach. Significant single marker results (P(comb 5.41E-09. The observed association patterns for these SNPs had heightened statistical significance and a higher degree of consistency across sample sets. In addition, the allele frequencies for these SNPs displayed reduced variability between control groups when compared to other SNPs. Lastly, in combination with the other two known genetic risk factors, HLA-DRB1 and PTPN22, the variants reported here generate more than a 45-fold RA-risk differential.

  2. Novel ZEB2-BCL11B Fusion Gene Identified by RNA-Sequencing in Acute Myeloid Leukemia with t(2;14(q22;q32.

    Directory of Open Access Journals (Sweden)

    Synne Torkildsen

    Full Text Available RNA-sequencing of a case of acute myeloid leukemia with the bone marrow karyotype 46,XY,t(2;14(q22;q32[5]/47,XY,idem,+?4,del(6(q13q21[cp6]/46,XY[4] showed that the t(2;14 generated a ZEB2-BCL11B chimera in which exon 2 of ZEB2 (nucleotide 595 in the sequence with accession number NM_014795.3 was fused to exon 2 of BCL11B (nucleotide 554 in the sequence with accession number NM_022898.2. RT-PCR together with Sanger sequencing verified the presence of the above-mentioned fusion transcript. All functional domains of BCL11B are retained in the chimeric protein. Abnormal expression of BCL11B coding regions subjected to control by the ZEB2 promoter seems to be the leukemogenic mechanism behind the translocation.

  3. Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and review.

    Science.gov (United States)

    Lennon, P A; Cooper, M L; Peiffer, D A; Gunderson, K L; Patel, A; Peters, Sarika; Cheung, S W; Bacino, C A

    2007-04-15

    We report on a young male with moderate mental retardation, dysmorphic features, and language delay who is deleted for 7q31.1-7q31.31. His full karyotype is 46,XY,der(7)del(7)(q31.1q31.31)ins(10;7)(q24.3;q31.1q31.31)mat. This child had language impairment, including developmental verbal dyspraxia, but did not meet criteria for autism according to standardized ADOS testing. Our patient's deletion, which is the smallest reported deletion including FOXP2, adds to the body of evidence that supports the role of FOXP2 in speech and language impairment, but not in autism. A reported association between autism and deletions of WNT2, a gene also deleted in our patient, is likewise not supported by our case. Previously, fine mapping with microsatellites markers within in a large three-generation family, in which half the members had severe specific language impairment, aided the localization of the SPCH1 locus to 7q31 within markers D7S2459 (107.1 Mb) and D7S643 (120.5 Mb). Additionally, chromosome rearrangement of 7q31 and mutational analyses have supported the growing evidence that FOXP2, a gene within the SPCH1 region, is involved with speech and language development. It is unclear however whether the AUTS1 (autistic spectrum 1) locus, highly linked to 7q31, overlaps with the SPCH1 and FOXP2. Copyright 2007 Wiley-Liss, Inc.

  4. Deleção 22q11.2 em pacientes com defeito cardíaco conotruncal e fenótipo da síndrome da deleção 22q11.2 Deleción 22q11.2 en pacientes con defecto cardiaco conotruncal y fenotipo del síndrome de la deleción 22q11.2 22q11.2 deletion in patients with conotruncal heart defect and del22q syndrome phenotype

    Directory of Open Access Journals (Sweden)

    Sintia Iole Nogueira Belangero

    2009-04-01

    Full Text Available FUNDAMENTO: A síndrome da deleção 22q11.2 é a mais freqüente síndrome de microdeleção humana. O fenótipo é altamente variável e caracterizado por defeito cardíaco conotruncal, dismorfias faciais, insuficiência velofaríngea, dificuldade de aprendizagem e retardo mental. OBJETIVO: O objetivo deste trabalho foi investigar a freqüência da deleção 22q11.2 em uma amostra brasileira de indivíduos portadores de cardiopatia conontrucal isolada e do fenótipo da síndrome da deleção 22q11.2. MÉTODOS: Vinte e nove pacientes foram estudados por meio de citogenética clássica, por hibridação in situ fluorescente (FISH e por técnicas moleculares. RESULTADOS: A análise citogenética por meio de bandamento G revelou cariótipo normal em todos os pacientes, com exceção de um que apresentou cariótipo 47,XX,+idic(22(q11.2. Com o uso de técnicas moleculares, a deleção foi observada em 25% dos pacientes, todos portadores do fenótipo da síndrome da deleção 22q11.2. Em nenhum dos casos, a deleção foi herdada dos pais. A freqüência da deleção 22q11.2 foi maior no grupo de pacientes portadores do espectro clínico da síndrome da deleção 22q11.2 do que no grupo de pacientes com cardiopatia conotruncal isolada. CONCLUSÃO: A investigação da presença da deleção e sua correlação com os dados clínicos dos pacientes podem auxiliar os pacientes e suas famílias a terem um melhor aconselhamento genético e um seguimento clínico mais adequado.FUNDAMENTO: El síndrome de la deleción 22q11.2 es el más frecuente síndrome de microdeleción humana. El fenotipo, altamente variable, se caracteriza por defecto cardiaco conotruncal, dismorfias faciales, insuficiencia velofaríngea, dificultad de aprendizaje y retardo mental. OBJETIVO: El objetivo de este trabajo fue investigar la frecuencia tanto de la deleción 22q11.2 en una muestra brasileña de individuos portadores de cardiopatía conotrucal aislada, como del fenotipo del s

  5. Finite-dimensional representations of the quantum superalgebra Uq[gl(2/2)] II: Nontypical representations at generic q

    International Nuclear Information System (INIS)

    Nguyen Anh Ky; Stoilova, N.I.

    1994-11-01

    The construction approach proposed in the previous paper Ref.1 allows us there and in the present paper to construct at generic deformation parameter q all finite-dimensional representations of the quantum Lie superalgebra U q [gl(2/2)]. The finite-dimensional U q [gl(2/2)]-modules W q constructed in Ref.1 are either irreducible or indecomposable. If a module W q is indecomposable, i.e. when the condition (4.41) in Ref.1 does not hold, there exists an invariant maximal submodule of W q , to say I q k , such that the factor-representation in the factor-module W q /I q k is irreducible and called nontypical. Here, in this paper, indecomposable representations and nontypical finite-dimensional representations of the quantum Lie superalgebra U q [gl(2/2)] are considered and classified as their module structures are analyzed and the matrix elements of all nontypical representations are written down explicitly. (author). 23 refs

  6. Neurocognitive profile in psychotic versus nonpsychotic individuals with 22q11.2 deletion syndrome.

    Science.gov (United States)

    Weinberger, Ronnie; Yi, James; Calkins, Monica; Guri, Yael; McDonald-McGinn, Donna M; Emanuel, Beverly S; Zackai, Elaine H; Ruparel, Kosha; Carmel, Miri; Michaelovsky, Elena; Weizman, Abraham; Gur, Ruben C; Gur, Raquel E; Gothelf, Doron

    2016-10-01

    The 22q11.2 deletion syndrome (22q11DS) is associated with increased rates of psychotic disorders and cognitive deficits, but large scale studies are needed to elucidate their interaction. The objective of this two-center study was to identify the neurocognitive phenotype of individuals with 22q11DS and psychotic disorders. We hypothesized that psychotic 22q11DS individuals compared to nonpsychotic deleted individuals would have more severe neurocognitive deficits, especially in executive function and social cognition. These deficits would be present when compared to IQ- matched individuals with Williams Syndrome (WS). Three groups were ascertained from the Tel Aviv and Philadelphia centers: 22q11DS individuals with a psychotic disorder (n=31), nonpsychotic 22q11DS (n=86) and typically-developing controls (TD, n=828). In Tel Aviv a group of individuals with WS (n=18) matched in IQ to the 22q11DS psychotic group was also included. The Penn Computerized Neurocognitive Battery (CNB) was used to assess a wide-range of cognitive functions and all patients underwent structured psychiatric evaluations. 22q11DS individuals performed poorly on all CNB domains compared to TD. Participants with 22q11DS and psychosis, compared to nonpsychotic 22q11DS, had more severe deficits in global neurocognitive performance (GNP), executive function, social cognition and episodic memory domains. The primary deficits were also significant when comparing the Tel Aviv 22q11DS psychotic group to IQ-matched individuals with WS. In conclusion, 22q11DS individuals with a psychotic disorder have specific neurocognitive deficits that are reliably identified cross nationality using the CNB. These cognitive dysfunctions should be further studied as potential endophenotypes of psychosis in 22q11DS and as targets for intervention. Copyright © 2016 Elsevier B.V. and ECNP. All rights reserved.

  7. Q-factorial Gorenstein toric Fano varieties with large Picard number

    DEFF Research Database (Denmark)

    Nill, Benjamin; Øbro, Mikkel

    2010-01-01

    In dimension $d$, ${\\boldsymbol Q}$-factorial Gorenstein toric Fano varieties with Picard number $\\rho_X$ correspond to simplicial reflexive polytopes with $\\rho_X + d$ vertices. Casagrande showed that any $d$-dimensional simplicial reflexive polytope has at most $3 d$ and $3d-1$ vertices if $d......$ is even and odd, respectively. Moreover, for $d$ even there is up to unimodular equivalence only one such polytope with $3 d$ vertices, corresponding to the product of $d/2$ copies of a del Pezzo surface of degree six. In this paper we completely classify all $d$-dimensional simplicial reflexive polytopes...... having $3d-1$ vertices, corresponding to $d$-dimensional ${\\boldsymbol Q}$-factorial Gorenstein toric Fano varieties with Picard number $2d-1$. For $d$ even, there exist three such varieties, with two being singular, while for $d > 1$ odd there exist precisely two, both being nonsingular toric fiber...

  8. [Acute myeloid leukemia with monosomy 7 and inv(3)(q21q26.2) complicated with central diabetes insipidus].

    Science.gov (United States)

    Nanno, Satoru; Hagihara, Kiyoyuki; Sakabe, Manami; Okamura, Hiroshi; Inaba, Akiko; Nagata, Yuki; Nishimoto, Mitsutaka; Koh, Hideo; Nakao, Yoshitaka; Nakane, Takahiko; Nakamae, Hirohisa; Shimono, Taro; Hino, Masayuki

    2013-04-01

    A 20-year-old female presented with thirst, polyposia, and polyuria and was referred to our hospital because of leukocytosis and anemia. Bone marrow aspiration revealed 66.8% myeloperoxidase-positive blasts and trilineage myelodysplasia. The karyotype was 45, XX, inv(3)(q21q26.2), -7[19]. Therefore, a diagnosis of AML with inv(3)(q21q26.2) complicated by -7 was made. Moreover, hyposthenuria and a low anti-diuretic hormone (ADH) level were observed. Although cerebrospinal fluid analysis was normal, magnetic resonance imaging (MRI) revealed the absence of hyperintensity in the neurohypophysis in T1-weighted images. Therefore, she was also diagnosed with diabetes insipidus. After she was administered a desmopressin nasal spray, the volume of urine produced decreased. Following treatment with second induction therapy containing high-dose cytarabine for AML, she achieved complete remission in the bone marrow. Moreover, when the abnormality on MRI and the volume of urine were normalized, she discontinued desmopressin. Although diabetes insipidus is a rare complication of AML, the majority of AML patients who have diabetes insipidus have the abnormal karyotypes with inv(3)(q21q26.2)/t(3;3)(q21;q26.2) and monosomy 7. Further study is required to clarify the pathogenesis and develop a strategy for the treatment of this category of AML.

  9. On the irrationality measure for a q-analogue of \\zeta(2)

    Science.gov (United States)

    Zudilin, W. V.

    2002-08-01

    A Liouville-type estimate is proved for the irrationality measure of the quantities \\displaystyle \\zeta_q(2)=\\sum_{n=1}^\\infty\\frac{q^n}{(1-q^n)^2}with q^{-1}\\in\\mathbb Z\\setminus\\{0,\\pm1\\}. The proof is based on the application of a q-analogue of the arithmetic method developed by Chudnovsky, Rukhadze, and Hata and of the transformation group for hypergeometric series-the group-structure approach introduced by Rhin and Viola.

  10. Excited baryon form factors at high Q2

    International Nuclear Information System (INIS)

    Paul Stoler; Gary Adams; Abdellah Ahmidouch; Chris Armstrong; K. Assamagan; Steven Avery; K. Baker; Peter Bosted; Volker Burkert; Jim Dunne; Tom Eden; Rolf Ent; V. Frolov; David Gaskell; P. Gueye; Wendy Hinton; Cynthia Keppel; Wooyoung Kim; Michael Klusman; Doug Koltenuk; David Mack; Richard Madey; David Meekins; Ralph Minehart; Joseph Mitchell; Hamlet Mkrtchyan; James Napolitano; Gabriel Niculescu; Ioana Niculescu; Mina Nozar; John Price; Paul Stoler; Vardan Tadevosyan; Liguang Tang; Michael Witkowski; Stephen Wood

    1998-01-01

    The role of resonance electroproduction at high Q 2 is discussed in the context of exclusive reactions, as well as the alternative theoretical models which are proposed to treat exclusive reactions in the few GeV 2 /c 2 region of momentum transfer. Jefferson Lab experiment 94-014, which measured the excitation of the Delta (1232) and S 11 (1535) via the reactions p(e,e ' p)pi 0 and p(e,e ' p)eta respectively at Q 22.8 and 4 GeV 2 /c 2 is described, and the state of analysis reported

  11. Detailed structure of the q profile around q=1 in JET

    International Nuclear Information System (INIS)

    Pegourie, B.; Dubois, M.A.; Gill, R.D.

    1989-01-01

    The limitation of ablation on rational surfaces has been shown to be an efficient mechanism of striation formation during pellet ablation. In JET, a very large striation is observed when the pellet crosses the q=1 surface. This paper presents a thorough analysis of the pellet ablation in this region and shows that an extended shearless zone around q=1 is necessary to reproduce the experimental signal. Such a feature is likely to be an essential ingredient in the understanding of internal disruptions. (author) 4 refs., 2 figs

  12. A leukemic double-hit follicular lymphoma associated with a complex variant translocation, t(8;14;18)(q24;q32;q21), involving BCL2, MYC, and IGH.

    Science.gov (United States)

    Minakata, Daisuke; Sato, Kazuya; Ikeda, Takashi; Toda, Yumiko; Ito, Shoko; Mashima, Kiyomi; Umino, Kento; Nakano, Hirofumi; Yamasaki, Ryoko; Morita, Kaoru; Kawasaki, Yasufumi; Sugimoto, Miyuki; Yamamoto, Chihiro; Ashizawa, Masahiro; Hatano, Kaoru; Oh, Iekuni; Fujiwara, Shin-Ichiro; Ohmine, Ken; Kawata, Hirotoshi; Muroi, Kazuo; Miura, Ikuo; Kanda, Yoshinobu

    2018-01-01

    Double-hit lymphoma (DHL) is defined as lymphoma with concurrent BCL2 and MYC translocations. While the most common histological subtype of DHL is diffuse large B-cell lymphoma, the present patient had leukemic follicular lymphoma (FL). A 52-year-old man was admitted to our hospital due to general fatigue and cervical and inguinal lymph node swelling. The patient was leukemic and the pathological diagnosis of the inguinal lymph node was FL grade 1. Chromosomal analysis revealed a complex karyotype including a rare three-way translocation t(8;14;18)(q24;q32;q21) involving the BCL2, MYC, and IGH genes. Based on a combination of fluorescence in situ hybridization (FISH), using BCL2, MYC and IGH, and spectral karyotyping (SKY), the karyotype was interpreted as being the result of a multistep mechanism in which the precursor B-cell gained t(14;18) in the bone marrow and acquired a translocation between der(14)t(14;18) and chromosome 8 in the germinal center, resulting in t(8;14;18). The pathological diagnosis was consistently FL, not only at presentation but even after a second relapse. The patient responded well to standard chemotherapies but relapsed after a short remission. This patient is a unique case of leukemic DH-FL with t(8;14;18) that remained in FL even at a second relapse. Copyright © 2017 Elsevier Inc. All rights reserved.

  13. 31 CFR 30.2 - Q-2: To what entities does this part apply?

    Science.gov (United States)

    2010-07-01

    ... 31 Money and Finance: Treasury 1 2010-07-01 2010-07-01 false Q-2: To what entities does this part apply? 30.2 Section 30.2 Money and Finance: Treasury Office of the Secretary of the Treasury TARP STANDARDS FOR COMPENSATION AND CORPORATE GOVERNANCE § 30.2 Q-2: To what entities does this part apply? This...

  14. The unit group of group algebra $F_qSL(2;Z_3$

    Directory of Open Access Journals (Sweden)

    Swati Maheshwari

    2016-01-01

    Full Text Available Let $\\F_q$ be a finite field of characteristic $p$ having $q$ elements, where $q = p^k$ and $p\\ge 5$. Let $ SL(2,\\Z_3$ be the special linear group of $2\\times2$ matrices with determinant $1$ over $\\Z_3$. In this note we establish the structure of the unit group of $\\F_q SL(2,\\Z_3$.

  15. Missionary Ethics in Q 10:2−12

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    Dieter T. Roth

    2012-06-01

    Full Text Available Elements of the mission discourse of the Synoptic Gospels are found in Mark 6:6b−13; Matthew 9:35−10:15; Luke 9:1−6 and Luke 10:1−20. Similarities and differences in these accounts have led many New Testament scholars to posit the presence of a mission discourse in Q. This discourse, along with the parable that introduces it (Q 10:2, provides insight into how Q conceives of ‘mission’ as well as the ethical principles and precepts that are part of Jesus’ missional charge in this document. Through an intertextual approach to Q, with particular emphasis on narrative structure and imagery, this paper considered the interplay of mission and ethics in this early Christian text.

  16. New q-ary quantum MDS codes with distances bigger than q/2

    Science.gov (United States)

    He, Xianmang; Xu, Liqing; Chen, Hao

    2016-07-01

    The construction of quantum MDS codes has been studied by many authors. We refer to the table in page 1482 of (IEEE Trans Inf Theory 61(3):1474-1484, 2015) for known constructions. However, there have been constructed only a few q-ary quantum MDS [[n,n-2d+2,d

  17. Chromosome 15q overgrowth syndrome: Prenatal diagnosis, molecular cytogenetic characterization, and perinatal findings in a fetus with dup(15(q26.2q26.3

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2011-09-01

    Conclusion: The present case provides evidence for prenatal overgrowth, craniosynostosis, and characteristic facial dysmorphism in association with a duplication of 15q26.2q26.3 and a duplication of the IGF1R gene. Prenatal diagnosis of fetal overgrowth should include a differential diagnosis of the chromosome 15q overgrowth syndrome.

  18. Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly

    Directory of Open Access Journals (Sweden)

    Marie-Emmanuelle Naud

    2017-01-01

    Full Text Available Interstitial 17q24.1 or 17q24.2 deletions were reported after conventional cytogenetic analysis or chromosomal microarray analysis in patients presenting intellectual disability, facial dysmorphism, and/or malformations. We report on a fetus with craniofacial dysmorphism, talipes equinovarus, and syndactyly associated with a de novo 2.5 Mb 17q24.1q24.2 deletion. Among the deleted genes, KPNA2 and PSMD12 are discussed for the correlation with the fetal phenotype. This is the first case of prenatal diagnosis of 17q24.1q24.2 deletion.

  19. Comparison of hard scattering models for particle production at large transverse momentum. 2

    International Nuclear Information System (INIS)

    Schiller, A.; Ilgenfritz, E.M.; Kripfganz, J.; Moehring, H.J.; Ranft, G.; Ranft, J.

    1977-01-01

    Single particle distributions of π + and π - at large transverse momentum are analysed using various hard collision models: qq → qq, qantiq → MantiM, qM → qM. The transverse momentum dependence at thetasub(cm) = 90 0 is well described in all models except qantiq → MantiM. This model has problems with the ratios (pp → π + +X)/(π +- p → π 0 +X). Presently available data on rapidity distributions of pions in π - p and pantip collisions are at rather low transverse momentum (however large xsub(perpendicular) = 2psub(perpendicular)/√s) where it is not obvious that hard collision models should dominate. The data, in particular the π - /π + asymmetry are well described by all models except qM → Mq (CIM). At large values of transverse momentum significant differences between the models are predicted. (author)

  20. Schizophrenia Spectrum Disorders in a Danish 22q11.2 Deletion Syndrome Cohort Compared to the Total Danish Population-A Nationwide Register Study

    DEFF Research Database (Denmark)

    Vangkilde, Anders; Olsen, Line; Hoeffding, Louise K

    2016-01-01

    OBJECTIVE: Cross-sectional studies have shown associations between 22q11.2 deletion syndrome and schizophrenia. However, large-scale prospective studies have been lacking. We, therefore, conducted the first large-scale population based study on the risk of being diagnosed with schizophrenia...... in persons identified with 22q11.2 deletion syndrome. METHODS: Danish nationwide registers were linked to establish a cohort consisting of all Danish citizens born during 1955-2004 and the cohort was followed from January 1, 1994 until December 31, 2013. Data were analyzed using survival analyses...... and adjusted for calendar year, age, sex, and parental mental health history. RESULTS: A total of 156 individuals with 22q11.2 deletion syndrome were identified, out of which 6 individuals were diagnosed with schizophrenia spectrum disorders following identification with 22q11 deletion syndrome. Identified...

  1. O(α3s) contributions to the heavy flavor Wilson coefficients of the structure function F2(x,Q2) at Q2>>m2

    International Nuclear Information System (INIS)

    Wissbrock, Fabian Philipp

    2015-10-01

    At O(α s 3 ) the contribution of a single heavy quark to the unpolarized structure function F 2 (x,Q 2 ) in the asymptotic region Q 2 >>m 2 is written as a convolution of the light flavor Wilson coefficients and the process independent massive operator matrix elements. This thesis extends the present description to allow for the presence of two heavy quark flavors and presents the respective renormalization prescription and first analytic results for these contributions. Furthermore the remaining O(C A,F T F 2 N F ) contributions and various diagrams of more complex topologies have been computed analytically. On the mathematical side different evaluation techniques based on representations in terms of special functions, Mellin-Barnes representations and Hyperlogarithms have been worked out.

  2. High-Q Defect-Free 2D Photonic Crystal Cavity from Random Localised Disorder

    Directory of Open Access Journals (Sweden)

    Kelvin Chung

    2014-07-01

    Full Text Available We propose a high-Q photonic crystal cavity formed by introducing random disorder to the central region of an otherwise defect-free photonic crystal slab (PhC. Three-dimensional finite-difference time-domain simulations determine the frequency, quality factor, Q, and modal volume, V, of the localized modes formed by the disorder. Relatively large Purcell factors of 500–800 are calculated for these cavities, which can be achieved for a large range of degrees of disorders.

  3. Copy number variations in 6q14.1 and 5q13.2 are associated with alcohol dependence.

    Science.gov (United States)

    Lin, Peng; Hartz, Sarah M; Wang, Jen-Chyong; Agrawal, Arpana; Zhang, Tian-Xiao; McKenna, Nicholas; Bucholz, Kathleen; Brooks, Andrew I; Tischfield, Jay A; Edenberg, Howard J; Hesselbrock, Victor M; Kramer, John R; Kuperman, Samuel; Schuckit, Marc A; Goate, Alison M; Bierut, Laura J; Rice, John P

    2012-09-01

    Excessive alcohol use is the third leading cause of preventable death and is highly correlated with alcohol dependence, a heritable phenotype. Many genetic factors for alcohol dependence have been found, but many remain unknown. In search of additional genetic factors, we examined the association between Diagnostic and StatisticalManual of Mental Disorders, Fourth Edition (DSM-IV) alcohol dependence and all common copy number variations (CNVs) with good reliability in the Study of Addiction: Genetics and Environment (SAGE). All participants in SAGE were interviewed using the Semi-Structured Assessment for the Genetics of Alcoholism, as a part of 3 contributing studies. A total of 2,610 non-Hispanic European American samples were genotyped on the Illumina Human 1M array. We performed CNV calling by CNVPartition, PennCNV, and QuantiSNP, and only CNVs identified by all 3 software programs were examined. Association was conducted with the CNV (as a deletion/duplication) as well as with probes in the CNV region. Quantitative polymerase chain reaction (qPCR) was used to validate the CNVs in the laboratory. CNVs in 6q14.1 (p = 1.04 × 10(-6)) and 5q13.2 (p = 3.37 × 10(-4)) were significantly associated with alcohol dependence after adjusting multiple tests. On chromosome 5q13.2, there were multiple candidate genes previously associated with various neurological disorders. The region on chromosome 6q14.1 is a gene desert that has been associated with mental retardation and language delay. The CNV in 5q13.2 was validated, whereas only a component of the CNV on 6q14.1 was validated by qPCR. Thus, the CNV on 6q14.1 should be viewed with caution. This is the first study to show an association between DSM-IV alcohol dependence and CNVs. CNVs in regions previously associated with neurological disorders may be associated with alcohol dependence. Copyright © 2012 by the Research Society on Alcoholism.

  4. Identification of a Cryptic Insertion ins(11;X)(q23;q28q12) Resulting in a KMT2A-FLNA Fusion in a 13-Month-Old Child with Acute Myelomonocytic Leukemia.

    Science.gov (United States)

    Lentes, Jana; Thomay, Kathrin; Schneider, Dominik T; Bernbeck, Benedikt; Reinhardt, Dirk; Marschalek, Rolf; Meyer, Claus; Schlegelberger, Brigitte; Göhring, Gudrun

    2016-01-01

    In pediatric acute myeloid leukemia (AML), chromosomal abnormalities leading to a disruption of the lysine methyltransferase 2A (KMT2A) gene in 11q23 are the most frequent rearrangements. Here, we report on the identification of a novel cryptic insertion, ins(11;X)(q23;q28q12), resulting in a translocation of the KMT2A gene in 11q23, leading to a KMT2A-FLNA fusion in a 13-month-old boy with de novo acute myelomonocytic leukemia, who died 38 days after diagnosis. The patient presented a complex karyotype 48∼49,Y,del(X)(q12),+del(X)(q12),+8,ins(11;X)(q23; q28q12),+19. The identified fusion gene was predicted to be out-of-frame (fusion of portions of KMT2A exon 11 with FLNA exon 11). However, RT-PCR experiments demonstrated that a potentially functional transcript was generated by alternative splicing where KMT2A exon 10 was spliced in-frame to the truncated FLNA exon 11. This case report helps to better understand the rare but potentially severe impact of KMT2A- FLNA fusions in infants with AML to improve prognostic stratification of therapy and clinical management. © 2017 S. Karger AG, Basel.

  5. Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features

    DEFF Research Database (Denmark)

    Sehested, Line T; Møller, Rikke S; Bache, Iben

    2010-01-01

    We describe a chromosome rearrangement, ins(7;13)(q32q34;q32), which segregates in a three generation family, giving rise to three individuals with an unbalanced rearrangement. Two of the individuals, a sister and a brother, were investigated further in this study. They had minor facial dysmorphi...... patients with previously reported patients, supports that haploinsuffiency of CNTNAP2 can result in language delay and/or autism spectrum disorder. Furthermore, we report on the second women with a deletion involving NOBOX who is affected by primary amenorrhea.......We describe a chromosome rearrangement, ins(7;13)(q32q34;q32), which segregates in a three generation family, giving rise to three individuals with an unbalanced rearrangement. Two of the individuals, a sister and a brother, were investigated further in this study. They had minor facial dysmorphism...... and neuropsychiatric disorders including mental retardation, language delay and epilepsy. The sister had primary amenorrhea. Array CGH revealed a 12.2¿Mb deletion at 7q34-q36.2 including more than 60 genes where CNTNAP2 and NOBOX are of special interest. Comparison of the clinical and cytogenetic findings of our...

  6. PP2A: The Achilles Heal in MDS with 5q Deletion

    Directory of Open Access Journals (Sweden)

    David eSallman

    2014-09-01

    Full Text Available Myelodysplastic syndromes (MDS represent a hematologically diverse group of myeloid neoplasms, however, one subtype characterized by an isolated deletion of chromosome 5q (del(5q is pathologically and clinically distinct. Patients with del(5q MDS share biological features that account for the profound hypoplastic anemia and unique sensitivity to treatment with lenalidomide. Ineffective erythropoiesis in del(5q MDS arises from allelic deletion of the ribosomal processing S-14 (RPS14 gene, which leads to MDM2 sequestration with consequent p53 activation and erythroid cell death. Since its approval in 2005, lenalidomide has changed the natural course of the disease. Patients who achieve transfusion independence and/or a cytogenetic response with lenalidomide have a decreased risk of progression to AML and an improved overall survival compared to non-responders. Elucidation of the mechanisms of action of lenalidomide in del(5q MDS has advanced therapeutic strategies for this disease. The selective cytotoxicity of lenalidomide in del(5q clones derives from inhibition of a haplodeficient phosphatase whose catalytic domain is encoded within the common deleted region on chromosome 5q, i.e., protein phosphatase 2A (PP2Acα. PP2A is a highly conserved, dual specificity phosphatase that plays an essential role in regulation of the G2/M checkpoint. Inhibition of PP2Acα results in cell cycle arrest and apoptosis in del(5q cells. Targeted knockdown of PP2Acα using siRNA is sufficient to sensitize non-del(5q clones to lenalidomide. Through its inhibitory effect on PP2A, lenalidomide stabilizes MDM2 to restore p53 degradation in erythroid precursors, with subsequent arrest in G2/M. Unfortunately, the majority of patients with del(5q MDS develop resistance to lenalidomide over time associated with PP2Acα overexpression. Targeted inhibition of PP2A with a more potent inhibitor has emerged as an attractive therapeutic approach for patients with del(5q MDS.

  7. Tsallis Extended Thermodynamics Applied to 2-d Turbulence: Lévy Statistics and q-Fractional Generalized Kraichnanian Energy and Enstrophy Spectra

    Directory of Open Access Journals (Sweden)

    Peter W. Egolf

    2018-02-01

    Full Text Available The extended thermodynamics of Tsallis is reviewed in detail and applied to turbulence. It is based on a generalization of the exponential and logarithmic functions with a parameter q. By applying this nonequilibrium thermodynamics, the Boltzmann-Gibbs thermodynamic approach of Kraichnan to 2-d turbulence is generalized. This physical modeling implies fractional calculus methods, obeying anomalous diffusion, described by Lévy statistics with q < 5/3 (sub diffusion, q = 5/3 (normal or Brownian diffusion and q > 5/3 (super diffusion. The generalized energy spectrum of Kraichnan, occurring at small wave numbers k, now reveals the more general and precise result k−q. This corresponds well for q = 5/3 with the Kolmogorov-Oboukov energy spectrum and for q > 5/3 to turbulence with intermittency. The enstrophy spectrum, occurring at large wave numbers k, leads to a k−3q power law, suggesting that large wave-number eddies are in thermodynamic equilibrium, which is characterized by q = 1, finally resulting in Kraichnan’s correct k−3 enstrophy spectrum. The theory reveals in a natural manner a generalized temperature of turbulence, which in the non-equilibrium energy transfer domain decreases with wave number and shows an energy equipartition law with a constant generalized temperature in the equilibrium enstrophy transfer domain. The article contains numerous new results; some are stated in form of eight new (proven propositions.

  8. Childhood cognitive development in 22q11.2 deletion syndrome: case-control study.

    Science.gov (United States)

    Chawner, Samuel J R A; Doherty, Joanne L; Moss, Hayley; Niarchou, Maria; Walters, James T R; Owen, Michael J; van den Bree, Marianne B M

    2017-10-01

    Background 22q11.2 deletion syndrome (22q11.2DS) is associated with a high risk of childhood as well as adult psychiatric disorders, in particular schizophrenia. Childhood cognitive deterioration in 22q11.2DS has previously been reported, but only in studies lacking a control sample. Aims To compare cognitive trajectories in children with 22q11.2DS and unaffected control siblings. Method A longitudinal study of neurocognitive functioning (IQ, executive function, processing speed and attention) was conducted in children with 22q11.2DS ( n = 75, mean age time 1 ( T 1 ) 9.9, time 2 ( T 2 ) 12.5) and control siblings ( n = 33, mean age T 1 10.6, T 2 13.4). Results Children with 22q11.2DS exhibited deficits in all cognitive domains. However, mean scores did not indicate deterioration. When individual trajectories were examined, some participants showed significant decline over time, but the prevalence was similar for 22q11.2DS and control siblings. Findings are more likely to reflect normal developmental fluctuation than a 22q11.2DS-specific abnormality. Conclusions Childhood cognitive deterioration is not associated with 22q11.2DS. Contrary to previous suggestions, we believe it is premature to recommend repeated monitoring of cognitive function for identifying individual children with 22q11.2DS at high risk of developing schizophrenia. © The Royal College of Psychiatrists 2017.

  9. Thermodynamic properties of a quantum group boson gas GLp,q(2)

    International Nuclear Information System (INIS)

    Jellal, Ahmed

    2000-10-01

    An approach is proposed enabling to effectively describe the behaviour of a bosonic system. The approach uses the quantum group GL p,q (2) formalism. In effect, considering a bosonic Hamiltonian in terms of the GL p,q (2) generators, it is shown that its thermodynamic properties are connected to deformation parameters p and q. For instance, the average number of particles and the pressure have been computed. If p is fixed to be the same value for q, our approach coincides perfectly with some results developed recently in this subject. The ordinary results, of the present system, can be found when we take the limit p = q = 1. (author)

  10. Various endocrine disorders in children with t(13;14(q10;q10 Robertsonian translocation

    Directory of Open Access Journals (Sweden)

    Byung Ho Choi

    2013-09-01

    Full Text Available Purpose45,XY,t(13;14(q10;q10 karyotype can suggest infertility associated with more or less severe oligospermia in male adults. In addition, 45,XX,t(13;14(q10;q10 karyotype carries reproductive risks such as miscarriage or infertility in female adults. However, reports on the phenotype of this karyotype in children are very rare. This study was done to observe various phenotypes of this karyotype in children.MethodsBetween January 2007 and December 2012, children diagnosed with 45,XY,t(13;14(q10;q10 or 45,XX,t(13;14(q10;q10 karyotype by chromosome analysis were analyzed retrospectively.ResultsEight children (5 boys and 3 girls were diagnosed with 45,XY,t(13;14(q10;q10 or 45,XX,t(13;14(q10;q10 karyotype. They ranged in age from 5 years and 6 months to 12 years and 4 months. The phenotypes of the study patients consisted of 1 hypogonadotrophic hypogonadism, 1 precocious puberty, 3 early puberty, 2 growth hormone deficiency (GHD (partial and 1 idiopathic short stature. As shown here t(13;14(q10;q10 Robertsonian translocation shows a wide range of phenotypes.ConclusionIt can be said that t(13;14(q10;q10 Robertsonian translocation shows various phenotypes from GHD to precocious puberty in children. Further large-scale studies are necessary.

  11. 19q12q13.2 duplication syndrome: neuropsychiatric long-term follow-up of a new case and literature update

    Directory of Open Access Journals (Sweden)

    Nacinovich R

    2017-10-01

    Full Text Available Renata Nacinovich,1,2 Nicoletta Villa,3 Fiorenza Broggi,1,2 Cristina Tavaniello,1 Monica Bomba,1 Donatella Conconi,2 Serena Redaelli,2 Elena Sala,3 Marialuisa Lavitrano,2 Francesca Neri1,2 1Childhood and Adolescence Neuropsychiatric Unit, San Gerardo Hospital, 2School of Medicine and Surgery, University of Milano Bicocca, 3Medical Genetics Laboratory, Clinical Pathology Department, San Gerardo Hospital, Monza, Italy Abstract: Genetic syndromes are well characterized by the phenotypic point of view, but little is known about their progression and patients’ quality of life. We report a 10-year neuropsychiatric follow-up of a boy with duplication of chromosome 19. Cytogenetic investigation was requested at the age of 5 years for psychomotor and speech delay. The genomic study identified an 8.17 Mb duplication on chromosome 19q12q13.2. We propose that the long-term follow-up of our patient would help to delineate the neuropsychiatric phenotype associated with 19q duplication. This study could be a model for further long-term research in the neuropsychiatric follow-up of patients with 19q duplication syndrome. Keywords: 19q duplication, neuropsychiatric follow-up, array-CGH

  12. Significant in vivo anti-inflammatory activity of Pytren4Q-Mn a superoxide dismutase 2 (SOD2 mimetic scorpiand-like Mn (II complex.

    Directory of Open Access Journals (Sweden)

    Carolina Serena

    Full Text Available The clinical use of purified SOD enzymes has strong limitations due to their large molecular size, high production cost and immunogenicity. These limitations could be compensated by using instead synthetic SOD mimetic compounds of low molecular weight.We have recently reported that two SOD mimetic compounds, the Mn(II complexes of the polyamines Pytren2Q and Pytren4Q, displayed high antioxidant activity in bacteria and yeast. Since frequently molecules with antioxidant properties or free-radical scavengers also have anti-inflammatory properties we have assessed the anti-inflammatory potential of Pytren2Q and Pytren4Q Mn(II complexes, in cultured macrophages and in a murine model of inflammation, by measuring the degree of protection they could provide against the cellular injury produced by lipopolisacharide, a bacterial endotoxin.In this report we show that the Mn(II complex of Pytren4Q but not that of Pytren2Q effectively protected human cultured THP-1 macrophages and whole mice from the inflammatory effects produced by LPS. These results obtained with two molecules that are isomers highlight the importance of gathering experimental data from animal models of disease in assessing the potential of candidate molecules.The effective anti-inflammatory activity of the Mn(II complex of Pytren4Q in addition to its low toxicity, water solubility and ease of production would suggest it is worth taking into consideration for future pharmacological studies.

  13. A Boy with an LCR3/4-Flanked 10q22.3q23.2 Microdeletion and Uncommon Phenotypic Features

    Science.gov (United States)

    Petrova, E.; Neuner, C.; Haaf, T.; Schmid, M.; Wirbelauer, J.; Jurkutat, A.; Wermke, K.; Nanda, I.; Kunstmann, E.

    2014-01-01

    The recurrent 10q22.3q23.2 deletion with breakpoints within low copy repeats 3 and 4 is a rare genomic disorder, reported in only 13 patients to date. The phenotype is rather uncharacteristic, which makes a clinical diagnosis difficult. A phenotypic feature described in almost all patients is a delay in speech development, albeit systematic studies are still pending. In this study, we report on a boy with an LCR3/4-flanked 10q22.3q23.2 deletion exhibiting an age-appropriate language development evaluated by a standardized test at an age of 2 years and 3 months. The boy was born with a cleft palate – a feature not present in any of the patients described before. Previously reported cases are reviewed, and the role of the BMPR1A gene is discussed. The phenotype of patients with an LCR3/4-flanked 10q22.3q23.2 deletion can be rather variable, so counseling the families regarding the prognosis of an affected child should be done with caution. Long-term studies of affected children are needed to delineate the natural history of this rare disorder. PMID:24550761

  14. Neutron electric form factor up to Q2 = 1.47 GeV/c2

    International Nuclear Information System (INIS)

    Madey, Richard; Semenov, Andrei; Taylor, S.; Aghalaryan, Aram; Crouse, Erick; MacLachlan, Glen; Plaster, Bradley; Shigeyuki Tajima; William Tireman; Chenyu Yan; Abdellah Ahmidouch; Brian Anderson; Hartmuth Arenhovel; Razmik Asaturyan; Baker, O.; Alan Baldwin; Herbert Breuer; Roger Carlini; Christy, E.; Steve Churchwell; Leon Cole; Areg Danagoulian; Donal Day; Mostafa Elaasar; Rolf Ent; Manouchehr Farkhondeh; Howard Fenker; John Finn; Liping Gan; Kenneth Garrow; Paul Gueye; Calvin Howell; Bitao Hu; Mark Jones; James Kelly; Cynthia Keppel; Mahbubul Khandaker; Wooyoung Kim; Stanley Kowalski; Allison Lung; David Mack; Manley, D.; Pete Markowitz; Joseph Mitchell; Hamlet Mkrtchyan; Allena Opper; Charles Perdrisat; Vina Punjabi; Brian Raue; Tilmann Reichelt; Joerg Reinhold; Julie Roche; Yoshinori Sato; Irina Semenova; Wonick Seo; Neven Simicevic; Smith, G.; Samuel Stepanyan; Vardan Tadevosyan; Liguang Tang; Paul Ulmer; William Vulcan; Watson, J. W.; Steven Wells; Frank Wesselmann; Stephen Wood; Chen Yan; Seunghoon Yang; Lulin Yuan; Wei-Ming Zhang; Hong Guo Zhu; Xiaofeng Zhu

    2003-01-01

    The ratio of the electric to the magnetic form factor of the neutron, g /equiv G En /G Mn , was measured via recoil polarimetry (R.G. Arnold, C.E. Carlson, F. Gross, Phys. Rev. C 23, 363 (1981)) from the quasielastic 2 H (/mathop(e)/limitse' /mathop(n)/limits) 1H reaction at three values of Q 2 (viz, 0.45, 1.15, and 1.47 (GeV/c) 2 ) in Hall C of the Thomas Jefferson National Accelerator Facility. The data reveal that GEn continues to follow the Galster parameterization up to Q 2 = 1.15 (GeV/c) 2 and rises above the Galster parameterization at Q 2 = 1.47 (GeV/c) 2

  15. Q^2 Dependence of the S_{11}(1535) Photocoupling and Evidence for a P-wave resonance in eta electroproduction

    Energy Technology Data Exchange (ETDEWEB)

    Haluk Denizli; James Mueller; Steven Dytman; M.L. Leber; R.D. Levine; J. Miles; Kui Kim; Gary Adams; Moscov Amaryan; Pawel Ambrozewicz; Marco Anghinolfi; Burin Asavapibhop; G. Asryan; Harutyun Avakian; Hovhannes Baghdasaryan; Nathan Baillie; Jacques Ball; Nathan Baltzell; Steve Barrow; V. Batourine; Marco Battaglieri; Kevin Beard; Ivan Bedlinski; Ivan Bedlinskiy; Mehmet Bektasoglu; Matthew Bellis; Nawal Benmouna; Nicola Bianchi; Angela Biselli; Billy Bonner; Sylvain Bouchigny; Sergey Boyarinov; Robert Bradford; Derek Branford; William Briscoe; William Brooks; Stephen Bueltmann; Volker Burkert; Cornel Butuceanu; John Calarco; Sharon Careccia; Daniel Carman; Catalina Cetina; Shifeng Chen; Philip Cole; Alan Coleman; Patrick Collins; Philip Coltharp; Dieter Cords; Pietro Corvisiero; Donald Crabb; Volker Crede; John Cummings; Natalya Dashyan; Raffaella De Vita; Enzo De Sanctis; Pavel Degtiarenko; Lawrence Dennis; Alexandre Deur; Kalvir Dhuga; Richard Dickson; Chaden Djalali; Gail Dodge; Joseph Donnelly; David Doughty; P. Dragovitsch; Michael Dugger; Oleksandr Dzyubak; Hovanes Egiyan; Kim Egiyan; Lamiaa Elfassi; Latifa Elouadrhiri; A. Empl; Paul Eugenio; Laurent Farhi; Renee Fatemi; Gleb Fedotov; Gerald Feldman; Robert Feuerbach; Tony Forest; Valera Frolov; Herbert Funsten; Sally Gaff; Michel Garcon; Gagik Gavalian; Gerard Gilfoyle; Kevin Giovanetti; Pascal Girard; Francois-Xavier Girod; John Goetz; Atilla Gonenc; Ralf Gothe; Keith Griffioen; Michel Guidal; Matthieu Guillo; Nevzat Guler; Lei Guo; Vardan Gyurjyan; Kawtar Hafidi; Hayk Hakobyan; Rafael Hakobyan; John Hardie; David Heddle; F. Hersman; Kenneth Hicks; Ishaq Hleiqawi; Maurik Holtrop; Jingliang Hu; Charles Hyde; Charles Hyde-Wright; Yordanka Ilieva; David Ireland; Boris Ishkhanov; Eugeny Isupov; Mark Ito; David Jenkins; Hyon-Suk Jo; Kyungseon Joo; Henry Juengst; Narbe Kalantarians; J.H. Kelley; James Kellie; Mahbubul Khandaker; K. Kim; Wooyoung Kim; Andreas Klein; Franz Klein; Mike Klusman; Mikhail Kossov; Laird Kramer; V. Kubarovsky; Joachim Kuhn; Sebastian Kuhn; Sergey Kuleshov; Jeff Lachniet; Jean Laget; Jorn Langheinrich; David Lawrence; Kenneth Livingston; Haiyun Lu; K. Lukashin; Marion MacCormick; Joseph Manak; Nikolai Markov; Simeon McAleer; Bryan McKinnon; John McNabb; Bernhard Mecking; Mac Mestayer; Curtis Meyer; Tsutomu Mibe; Konstantin Mikhaylov; Ralph Minehart; Marco Mirazita; Rory Miskimen; Viktor Mokeev; Kei Moriya; Steven Morrow; M. Moteabbed; Valeria Muccifora; Gordon Mutchler; Pawel Nadel-Turonski; James Napolitano; Rakhsha Nasseripour; Steve Nelson; Silvia Niccolai; Gabriel Niculescu; Maria-Ioana Niculescu; Bogdan Niczyporuk; Megh Niroula; Rustam Niyazov; Mina Nozar; Grant O' Rielly; Mikhail Osipenko; Alexander Ostrovidov; Kijun Park; Evgueni Pasyuk; Craig Paterson; Gerald Peterson; Sasha Philips; Joshua Pierce; Nikolay Pivnyuk; Dinko Pocanic; Oleg Pogorelko; Ermanno Polli; S. Pozdniakov; Barry Preedom; John Price; Yelena Prok; Dan Protopopescu; Liming Qin; Brian Raue; Gregory Riccardi; Giovanni Ricco; Marco Ripani; Barry Ritchie; Federico Ronchetti; Guenther Rosner; Patrizia Rossi; David Rowntree; Philip Rubin; Franck Sabatie; Konstantin Sabourov; Julian Salamanca; Carlos Salgado; Joseph Santoro; Vladimir Sapunenko; Reinhard Schumacher; Vladimir Serov; Aziz Shafi; Youri Sharabian; Jeremiah Shaw; Nikolay Shvedunov; Sebastio Simionatto; Alexander Skabelin; Elton Smith; Lee Smith; Daniel Sober; Daria Sokhan; M. Spraker; Aleksey Stavinskiy; Samuel Stepanyan; Stepan Stepanyan; Burnham Stokes; Paul Stoler; I.I. Strakovsky; Steffen Strauch; Mauro Taiuti; Simon Taylor; David Tedeschi; Ulrike Thoma; R. Thompson; Avtandil Tkabladze; Svyatoslav Tkachenko; Clarisse Tur; Maurizio Ungaro; Michael Vineyard; Alexander Vlassov; Kebin Wang; Daniel Watts; Lawrence Weinstein; Henry Weller; Dennis Weygand; M. Williams; Elliott Wolin; Michael Wood; Amrit Yegneswaran; Junho Yun; Lorenzo Zana; Jixie Zhang; Bo Zhao; Zhiwen Zhao

    2007-07-01

    New cross sections for the reaction $ep \\to e'\\eta p$ are reported for total center of mass energy $W$=1.5--2.3 GeV and invariant squared momentum transfer $Q^2$=0.13--3.3 GeV$^2$. This large kinematic range allows extraction of new information about response functions, photocouplings, and $\\eta N$ coupling strengths of baryon resonances. A sharp structure is seen at $W\\sim$ 1.7 GeV. The shape of the differential cross section is indicative of the presence of a $P$-wave resonance that persists to high $Q^2$. Improved values are derived for the photon coupling amplitude for the $S_{11}$(1535) resonance. The new data greatly expands the $Q^2$ range covered and an interpretation of all data with a consistent parameterization is provided.

  16. [22q11.2DS Syndrome as a Genetic Subtype of Schizophrenia].

    Science.gov (United States)

    Huertas-Rodríguez, Cindy Katherin; Payán-Gómez, César; Forero-Castro, Ruth Maribel

    2015-01-01

    The 22q11.2 deletion syndrome (22q11.2DS) is associated with the microdeletion of this chromosomal region, and represents the second most common genetic syndrome after Down's syndrome. In patients with schizophrenia, 22q11.2DS has a prevalence of 2%, and in selected groups can be increased to between 32-53%. To describe the generalities of 22q11.2DS syndrome as a genetic subtype of schizophrenia, its clinical characteristics, molecular genetic aspects, and frequency in different populations. A review was performed from 1967 to 2013 in scientific databases, compiling articles about 22q11.2DS syndrome and its association with schizophrenia. The 22q11.2 DS syndrome has a variable phenotype associated with other genetic syndromes, birth defects in many tissues and organs, and a high rate of psychiatric disorders, particularly schizophrenia. Likewise, it has been identified in clinical populations with schizophrenia selected by the presence of common syndromic characteristics. FISH, qPCR and MLPA techniques, and recently, aCGH and NGS technologies, are being used to diagnose this microdeletion. It is important in clinical practice to remember that people suffering the 22q11.2DS have a high genetic risk for developing schizophrenia, and it is considered that the simultaneous presence of this disease and 22q11.2DS represents a genetic subtype of schizophrenia. There are clear phenotypic criteria, molecular and cytogenetic methods to diagnose this group of patients, and to optimize a multidisciplinary approach in their monitoring. Copyright © 2014 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

  17. Measurements of the Deuteron Elastic Structure Function A(Q2 ) for 0.7 ≤ Q2 ≤ 6.0 (GeV/c) 2 at Jefferson Laboratory

    International Nuclear Information System (INIS)

    Berthot, J.; Bertin, P.Y.; Breton, V.; Deur, A.; Fonvieille, H.; Jaminion, S.; Jutier, C.; Lavessiere, G.; Ravel, O.; Roblin, Y.; Aniol, K.A.; Epstein, M.B.; Margaziotis, D.J.; Howell, C.; Boeglin, W.U.; Kramer, L.H.; Markowitz, P.; Sarty, A.J.; Degrande, N.; Van Hoorebeke, L.; Baker, F.T.; Templon, J.A.; Mougey, J.Y.; Gasparian, A.; Madey, R.; Wilson, R.; De Leo, R.; Leone, A.; Perrino, R.; Cisbani, E.; Frullani, S.; Garibaldi, F.; Iodice, M.; Urciuoli, G.M.; Anderson, B.D.; Katramatou, A.T.; Khayat, M.; Madey, R.; Manley, D.M.; Petratos, G.G.; Prout, D.L.; Suleiman, R.; Watson, J.W.; Zhang, W.; Dale, D.S.; Gasparian, A.; Glamazdin, A.; Gorbenko, V.; Pomatsalyuk, R.; Sorokin, P.; Breuer, H.; Chang, C.; Ewell, L.A.; Kelly, J.J.; Bertozzi, W.; Fissum, K.G.; Gao, H.; Gao, J.; Gilad, S.; Liyanage, N.; Rowntree, D.; Zhao, J.; Zhou, Z.

    1999-01-01

    The deuteron elastic structure function A(Q 2 ) has been extracted in the range 0.7≤Q 2 ≤6.0 (GeV /c) 2 from cross section measurements of elastic electron-deuteron scattering in coincidence using the Hall A Facility of Jefferson Laboratory. The data are compared to theoretical models, based on the impulse approximation with the inclusion of meson-exchange currents, and to predictions of quark dimensional scaling and perturbative quantum chromodynamics. copyright 1999 The American Physical Society

  18. Case report of newborn with de novo partial trisomy 2q31.2–37.3 ...

    Indian Academy of Sciences (India)

    MAURIZIA COLANGELO

    2018-02-24

    Feb 24, 2018 ... Keywords. duplication of 2q31.2 and 2q37.3; monosomy 9p; array CGH. Introduction ... of gestation from a 39-year old Caucasian female. She is the second child of healthy and nonconsanguineous par- ents. She has a healthy ..... growth with intellectual disability, while duplications dis- tal to 2q33 show a ...

  19. Self-dual continuous series of representations for U{sub q}(sl(2)) and U{sub q}(osp(1 vertical stroke 2))

    Energy Technology Data Exchange (ETDEWEB)

    Hadasz, Leszek [Krakow Univ. (Poland). Inst. of Physics; Pawelkiewicz, Michal; Schomerus, Volker [DESY Hamburg (Germany). Theory Group

    2013-05-15

    We determine the Clebsch-Gordan and Racah-Wigner coefficients for continuous series of representations of the quantum deformed algebras U{sub q}(sl(2)) and U{sub q}(osp(1 vertical stroke 2)). While our results for the former algebra reproduce formulas by Ponsot and Teschner, the expressions for the orthosymplectic algebra are new. Up to some normalization factors, the associated Racah-Wigner coefficients are shown to agree with the fusing matrix in the Neveu-Schwarz sector of N=1 supersymmetric Liouville field theory.

  20. Comparative analysis of vertebrate EIF2AK2 (PKR genes and assignment of the equine gene to ECA15q24–q25 and the bovine gene to BTA11q12–q15

    Directory of Open Access Journals (Sweden)

    Zharkikh Andrey A

    2006-09-01

    Full Text Available Abstract The structures of the canine, rabbit, bovine and equine EIF2AK2 genes were determined. Each of these genes has a 5' non-coding exon as well as 15 coding exons. All of the canine, bovine and equine EIF2AK2 introns have consensus donor and acceptor splice sites. In the equine EIF2AK2 gene, a unique single nucleotide polymorphism that encoded a Tyr329Cys substitution was detected. Regulatory elements predicted in the promoter region were conserved in ungulates, primates, rodents, Afrotheria (elephant and Insectifora (shrew. Western clawed frog and fugu EIF2AK2 gene sequences were detected in the USCS Genome Browser and compared to those of other vertebrate EIF2AK2 genes. A comparison of EIF2AK2 protein domains in vertebrates indicates that the kinase catalytic domains were evolutionarily more conserved than the nucleic acid-binding motifs. Nucleotide substitution rates were uniform among the vertebrate sequences with the exception of the zebrafish and goldfish EIF2AK2 genes, which showed substitution rates about 20% higher than those of other vertebrates. FISH was used to physically assign the horse and cattle genes to chromosome locations, ECA15q24–q25 and BTA11q12–15, respectively. Comparative mapping data confirmed conservation of synteny between ungulates, humans and rodents.

  1. PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication

    Directory of Open Access Journals (Sweden)

    Angelika J. Dawson

    2015-01-01

    Full Text Available The proximal region of the long arm of chromosome 15q11.2-q13 is associated with various neurodevelopmental disorders, including Prader-Willi (PWS and Angelman (AS syndromes, autism, and other developmental abnormalities resulting from deletions and duplications. In addition, this region encompasses imprinted genes that cause PWS or AS, depending on the parent-of-origin. This imprinting allows for diagnosis of PWS or AS based on methylation status using methylation sensitive (MS multiplex ligation dependent probe amplification (MLPA. Maternally derived microduplications at 15q11.2-q13 have been associated with autism and other neuropsychiatric disorders. Multiple methods have been used to determine the parent-of-origin for 15q11.2-q13 microdeletions and microduplications. In the present study, a four-year-old nondysmorphic female patient with developmental delay was found to have a de novo ~5 Mb duplication within 15q11.2 by oligonucleotide genomic array. In order to determine the significance of this microduplication to the clinical phenotype, the parent-of-origin needed to be identified. The PWS/AS MS-MLPA assay is generally used to distinguish between deletion and uniparental disomy (UPD of 15q11.2-q13, resulting in either PWS or AS. However, our study shows that PWS/AS MS-MLPA can also efficiently distinguish the parental origin of duplications of 15q11.2-q13.

  2. Measurement of the proton structure function F2 at low χand low Q2 at HERA

    International Nuclear Information System (INIS)

    Derrick, M.; Krakauer, D.; Magill, S.

    1995-10-01

    We report on a measurement of the proton structure function F 2 in the range 3.5x10 -5 ≤x≤4x10 -3 and 1.5 GeV 2Q 2 ≤15 GeV 2 at the ep collider HERA operating at a centre-of-mass energy of √s=300 GeV. The rise of F 2 with decreasing x observed in the previous HERA measurements persists in this lower x and Q 2 range. The Q 2 evolution of F 2 , even at the lowest Q 2 and x measured, is consistent with perturbative QCD. (orig.)

  3. The dimensional structure of psychopathology in 22q11.2 Deletion Syndrome.

    Science.gov (United States)

    Niarchou, Maria; Moore, Tyler M; Tang, Sunny X; Calkins, Monica E; McDonald-McGuinn, Donna M; Zackai, Elaine H; Emanuel, Beverly S; Gur, Ruben C; Gur, Raquel E

    2017-09-01

    22q11.2 Deletion Syndrome (22q11.2DS) is one of the strongest known genetic risk factors for developing schizophrenia. Individuals with 22q11.2DS have high rates of neurodevelopmental disorders in childhood, while in adulthood ∼25% develop schizophrenia. Similar to the general population, high rates of comorbidity are common in 22q11.2DS. Employing a dimensional approach where psychopathology is examined at the symptom-level as complementary to diagnostic categories in a population at such high genetic risk for schizophrenia can help gain a better understanding of how psychopathology is structured as well as its genetic underpinnings. This is the first study to examine the dimensional structure of a wide spectrum of psychopathology in the context of a homogeneous genetic etiology like 22q11.2DS. We evaluated 331 individuals with 22q11.2DS, mean age (SD) = 16.9(8.7); 51% males, who underwent prospective comprehensive phenotyping. We sought to replicate previous findings by examining a bi-factor model that derives a general factor of psychopathology in addition to more specific dimensions of psychopathology (i.e., internalizing, externalizing and thought disorder). Psychopathology in 22q11.2DS was divided into one 'general psychopathology' factor and four specific dimensions (i.e., 'anxiety', 'mood', 'ADHD' and 'psychosis'). The 'psychosis' symptoms loaded strongly on the 'general psychopathology' factor. The similarity of the symptom structure of psychopathology between 22q11.2DS and community and clinical populations without the deletion indicate that 22q11.2DS can provide a model to explore alternative approaches to our current nosology. Our findings add to a growing literature indicating the need to reorganize current diagnostic classification systems. Copyright © 2017 Elsevier Ltd. All rights reserved.

  4. Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.

    Science.gov (United States)

    Demaerel, Wolfram; Hestand, Matthew S; Vergaelen, Elfi; Swillen, Ann; López-Sánchez, Marcos; Pérez-Jurado, Luis A; McDonald-McGinn, Donna M; Zackai, Elaine; Emanuel, Beverly S; Morrow, Bernice E; Breckpot, Jeroen; Devriendt, Koenraad; Vermeesch, Joris R

    2017-10-05

    Inversion polymorphisms between low-copy repeats (LCRs) might predispose chromosomes to meiotic non-allelic homologous recombination (NAHR) events and thus lead to genomic disorders. However, for the 22q11.2 deletion syndrome (22q11.2DS), the most common genomic disorder, no such inversions have been uncovered as of yet. Using fiber-FISH, we demonstrate that parents transmitting the de novo 3 Mb LCR22A-D 22q11.2 deletion, the reciprocal duplication, and the smaller 1.5 Mb LCR22A-B 22q11.2 deletion carry inversions of LCR22B-D or LCR22C-D. Hence, the inversions predispose chromosome 22q11.2 to meiotic rearrangements and increase the individual risk for transmitting rearrangements. Interestingly, the inversions are nested or flanking rather than coinciding with the deletion or duplication sizes. This finding raises the possibility that inversions are a prerequisite not only for 22q11.2 rearrangements but also for all NAHR-mediated genomic disorders. Copyright © 2017. Published by Elsevier Inc.

  5. Medium energy nuclear physics research

    International Nuclear Information System (INIS)

    Peterson, G.A.; Dubach, J.F.; Hicks, R.S.; Miskimen, R.A.

    1991-06-01

    This report discusses research conducted on the following topics: transverse from factors of 117 Sn; elastic magnetic electron scattering from 13 C at Q 2 = 1 GeV 2 /c 2 ; a re-analysis of 13 C elastic scattering; deuteron threshold electrodisintegration; measurement of the elastic magnetic form factor of 3 He at high momentum transfer; coincidence measurement of the D(e,e'p) cross-section at low excitation energy and high momentum transfer; measurement of the quadrupole contribution to the N → Δ excitation; measurement of the x-, Q 2 -, and A-dependence of R = σ L /σ T ; the PEGASYS project; PEP beam-gas event analysis; plans for other experiments at SLAC: polarized electron scattering on polarized nuclei; experiment PR-89-015: study of coincidence reactions in the dip and delta-resonance regions; experiment PR-89-031: multi-nulceon knockout using the CLAS detector; drift chamber tests; a memorandum of understanding and test experiments; photoprotons from 10 B; and hadronic electroproduction at LEP

  6. Q2 dependence of the spin structure function in the resonance region

    International Nuclear Information System (INIS)

    Li, Z.; Li, Z.

    1994-01-01

    In this paper, we show what we can learn from the CEBAF experiments on spin-structure functions, and the transition from the Drell-Hearn-Gerasimov sum rule in the real photon limit to the spin-dependent sum rules in deep inelastic scattering, and how the asymmetry A 1 (x,Q 2 ) approaches the scaling limit in the resonance region. The spin structure function in the resonance region alone cannot determine the spin-dependent sum rule due to the kinematic restriction of the resonance region. The integral ∫ 0 1 {A 1 (x,Q 2 )F 2 (x,Q 2 )/2x[1+R(x,Q 2 )]}dx is estimated from Q 2 =0--2.5 GeV 2 . The result shows that there is a region where both contributions from the baryon resonances and the deep inelastic scattering are important; thus it provides important information on the high twist effects on the spin-dependent sum rule

  7. Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2.

    Science.gov (United States)

    Dworschak, G C; Crétolle, C; Hilger, A; Engels, H; Korsch, E; Reutter, H; Ludwig, M

    2017-05-01

    Partial duplications of the long arm of chromosome 3, dup(3q), are a rare but well-described condition, sharing features of Cornelia de Lange syndrome. Around two thirds of cases are derived from unbalanced translocations, whereas pure dup(3q) have rarely been reported. Here, we provide an extensive review of the literature on dup(3q). This search revealed several patients with caudal malformations and anomalies, suggesting that caudal malformations or anomalies represent an inherent phenotypic feature of dup(3q). In this context, we report a patient with a pure de novo duplication 3q26.32-q27.2. The patient had the clinical diagnosis of Currarino syndrome (CS) (characterized by the triad of sacral anomalies, anorectal malformations and a presacral mass) and additional features, frequently detected in patients with a dup(3q). Mutations within the MNX1 gene were found to be causative in CS but no MNX1 mutation could be detected in our patient. Our comprehensive search for candidate genes located in the critical region of the duplication 3q syndrome, 3q26.3-q27, revealed a so far neglected phenotypic overlap of dup(3q) and the Pierpont syndrome, associated with a mutation of the TBL1XR1 gene on 3q26.32. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  8. Size Effect of the 2-D Bodies on the Geothermal Gradient and Q-A Plot

    Science.gov (United States)

    Thakur, M.; Blackwell, D. D.

    2009-12-01

    Using numerical models we have investigated some of the criticisms on the Q-A plot of related to the effect of size of the body on the slope and reduced heat flow. The effects of horizontal conduction depend on the relative difference of radioactivity between the body and the country rock (assuming constant thermal conductivity). Horizontal heat transfer due to different 2-D bodies was numerically studied in order to quantify resulting temperature differences at the Moho and errors on the predication of Qr (reduced heat flow). Using the two end member distributions of radioactivity, the step model (thickness 10km) and exponential model, different 2-D models of horizontal scale (width) ranging from 10 -500 km were investigated. Increasing the horizontal size of the body tends to move observations closer towards the 1-D solution. A temperature difference of 50 oC is produced (for the step model) at Moho between models of width 10 km versus 500 km. In other words the 1-D solution effectively provides large scale averaging in terms of heat flow and temperature field in the lithosphere. For bodies’ ≤ 100 km wide the geotherms at shallower levels are affected, but at depth they converge and are 50 oC lower than that of the infinite plate model temperature. In case of 2-D bodies surface heat flow is decreased due to horizontal transfer of heat, which will shift the Q-A point vertically downward on the Q-A plot. The smaller the size of the body, the more will be the deviation from the 1-D solution and the more will be the movement of Q-A point downwards on a Q-A plot. On the Q-A plot, a limited points of bodies of different sizes with different radioactivity contrast (for the step and exponential model), exactly reproduce the reduced heat flow Qr. Thus the size of the body can affect the slope on a Q-A plot but Qr is not changed. Therefore, Qr ~ 32 mWm-2 obtained from the global terrain average Q-A plot represents the best estimate of stable continental mantle heat

  9. Y-systems, Q-systems, and 4D N=2 supersymmetric QFT

    International Nuclear Information System (INIS)

    Cecotti, Sergio; Zotto, Michele Del

    2014-01-01

    We review the connection between Y- and Q-systems and the BPS spectra of 4D N=2 supersymmetric QFTs. For each finite BPS chamber of an N=2 model which is UV superconformal, one gets a periodic Y-system, while for each finite BPS chamber of an asymptotically-free N=2 QFT one gets a Q-system i.e. a rational recursion all whose solutions satisfy a linear recursion with constant coefficients (depending on the initial conditions). For instance, the classical ADE Y-systems of Zamolodchikov correspond to the ADE Argyres–Douglas N=2 SCFTs, while the usual ADE Q-systems correspond to pure N=2 SYM. After having motivated the correspondence both from the QFT and the thermodynamical Bethe ansatz sides, and having introduced the basic tricks of the trade, we exploit the connection to construct and solve new Y- and Q-systems. In particular, we present the new Y-systems associated to the E 6 , E 7 , E 8 Minahan–Nemeshanski SCFTs and to the D 2 (G) SCFTs. We also present new Q-systems corresponding to SYM coupled to specific matter systems such that the YM β-function remains negative. (review)

  10. Experimental cross sections for two-electron capture into nitrogen autoionising states in Nsup(q+) (q=6,7) on He and H2 collisions at 10.5q keV

    International Nuclear Information System (INIS)

    Bordenave-Montesquieu, A.; Benoit-Cattin, P.; Gleizes, A.; Marrakchi, A.I.

    1985-01-01

    Singly differential cross sections for two-electron capture into autoionising states (nl,n'l') with n=2,3,4 and n'>=n in Nsup(q+) (q=6,7) on He and H 2 collisions have been measured at 10,5q ke V collision energy and an observation angle thetasub(lab)=11.6 0 . Total cross sections are estimated assuming isotropic angular distributions. (orig.)

  11. Genome-wide association study for type 2 diabetes in Indians identifies a new susceptibility locus at 2q21.

    Science.gov (United States)

    Tabassum, Rubina; Chauhan, Ganesh; Dwivedi, Om Prakash; Mahajan, Anubha; Jaiswal, Alok; Kaur, Ismeet; Bandesh, Khushdeep; Singh, Tejbir; Mathai, Benan John; Pandey, Yogesh; Chidambaram, Manickam; Sharma, Amitabh; Chavali, Sreenivas; Sengupta, Shantanu; Ramakrishnan, Lakshmi; Venkatesh, Pradeep; Aggarwal, Sanjay K; Ghosh, Saurabh; Prabhakaran, Dorairaj; Srinath, Reddy K; Saxena, Madhukar; Banerjee, Monisha; Mathur, Sandeep; Bhansali, Anil; Shah, Viral N; Madhu, Sri Venkata; Marwaha, Raman K; Basu, Analabha; Scaria, Vinod; McCarthy, Mark I; Venkatesan, Radha; Mohan, Viswanathan; Tandon, Nikhil; Bharadwaj, Dwaipayan

    2013-03-01

    Indians undergoing socioeconomic and lifestyle transitions will be maximally affected by epidemic of type 2 diabetes (T2D). We conducted a two-stage genome-wide association study of T2D in 12,535 Indians, a less explored but high-risk group. We identified a new type 2 diabetes-associated locus at 2q21, with the lead signal being rs6723108 (odds ratio 1.31; P = 3.32 × 10⁻⁹). Imputation analysis refined the signal to rs998451 (odds ratio 1.56; P = 6.3 × 10⁻¹²) within TMEM163 that encodes a probable vesicular transporter in nerve terminals. TMEM163 variants also showed association with decreased fasting plasma insulin and homeostatic model assessment of insulin resistance, indicating a plausible effect through impaired insulin secretion. The 2q21 region also harbors RAB3GAP1 and ACMSD; those are involved in neurologic disorders. Forty-nine of 56 previously reported signals showed consistency in direction with similar effect sizes in Indians and previous studies, and 25 of them were also associated (P < 0.05). Known loci and the newly identified 2q21 locus altogether explained 7.65% variance in the risk of T2D in Indians. Our study suggests that common susceptibility variants for T2D are largely the same across populations, but also reveals a population-specific locus and provides further insights into genetic architecture and etiology of T2D.

  12. Detection of Coxiella burnetii in Ambient Air after a Large Q Fever Outbreak.

    Directory of Open Access Journals (Sweden)

    Myrna M T de Rooij

    Full Text Available One of the largest Q fever outbreaks ever occurred in the Netherlands from 2007-2010, with 25 fatalities among 4,026 notified cases. Airborne dispersion of Coxiella burnetii was suspected but not studied extensively at the time. We investigated temporal and spatial variation of Coxiella burnetii in ambient air at residential locations in the most affected area in the Netherlands (the South-East, in the year immediately following the outbreak. One-week average ambient particulate matter < 10 μm samples were collected at eight locations from March till September 2011. Presence of Coxiella burnetii DNA was determined by quantitative polymerase chain reaction. Associations with various spatial and temporal characteristics were analyzed by mixed logistic regression. Coxiella burnetii DNA was detected in 56 out of 202 samples (28%. Airborne Coxiella burnetii presence showed a clear seasonal pattern coinciding with goat kidding. The spatial variation was significantly associated with number of goats on the nearest goat farm weighted by the distance to the farm (OR per IQR: 1.89, CI: 1.31-2.76. We conclude that in the year after a large Q fever outbreak, temporal variation of airborne Coxiella burnetii is suggestive to be associated with goat kidding, and spatial variation with distance to and size of goat farms. Aerosol measurements show to have potential for source identification and attribution of an airborne pathogen, which may also be applicable in early stages of an outbreak.

  13. Optimized broad-histogram simulations for strong first-order phase transitions: droplet transitions in the large-Q Potts model

    Science.gov (United States)

    Bauer, Bela; Gull, Emanuel; Trebst, Simon; Troyer, Matthias; Huse, David A.

    2010-01-01

    The numerical simulation of strongly first-order phase transitions has remained a notoriously difficult problem even for classical systems due to the exponentially suppressed (thermal) equilibration in the vicinity of such a transition. In the absence of efficient update techniques, a common approach for improving equilibration in Monte Carlo simulations is broadening the sampled statistical ensemble beyond the bimodal distribution of the canonical ensemble. Here we show how a recently developed feedback algorithm can systematically optimize such broad-histogram ensembles and significantly speed up equilibration in comparison with other extended ensemble techniques such as flat-histogram, multicanonical and Wang-Landau sampling. We simulate, as a prototypical example of a strong first-order transition, the two-dimensional Potts model with up to Q = 250 different states in large systems. The optimized histogram develops a distinct multi-peak structure, thereby resolving entropic barriers and their associated phase transitions in the phase coexistence region—such as droplet nucleation and annihilation, and droplet-strip transitions for systems with periodic boundary conditions. We characterize the efficiency of the optimized histogram sampling by measuring round-trip times τ(N, Q) across the phase transition for samples comprised of N spins. While we find power-law scaling of τ versus N for small Q \\lesssim 50 and N \\lesssim 40^2 , we observe a crossover to exponential scaling for larger Q. These results demonstrate that despite the ensemble optimization, broad-histogram simulations cannot fully eliminate the supercritical slowing down at strongly first-order transitions.

  14. Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?

    Directory of Open Access Journals (Sweden)

    K. M. Usrey

    2014-01-01

    Full Text Available The proximal 15q11–q13 region contains 5 breakpoints (BP1–BP5. The BP1-BP2 region spans approximately 500 kb and contains four evolutionarily conserved genes. The genes in this region are known to play a role in central nervous system development and/or function. Microdeletions within the 15q11.2 BP1-BP2 region have been reported in patients with neurological dysfunction, developmental delays, behavioral problems, and dysmorphic features. We report two unrelated subjects with the 15q11.2 BP1-BP2 microdeletion and presenting with congenital arthrogryposis, a feature which has not been previously reported as part of this newly recognized microdeletion syndrome. While arthrogryposis seen in these two subjects may be coincidental, we propose that congenital arthrogryposis may result from neurological dysfunction and involvement of the microdeletion of the 15q11.2 BP1-BP2 region, further expanding the phenotype of this microdeletion syndrome. We encourage others to report patients with this chromosome microdeletion and neurological findings to further characterize the clinical phenotype.

  15. Target and beam-target spin asymmetries in exclusive pion electroproduction for Q2>1 GeV2. II. e p →e π0p

    Science.gov (United States)

    Bosted, P. E.; Kim, A.; Adhikari, K. P.; Adikaram, D.; Akbar, Z.; Amaryan, M. J.; Anefalos Pereira, S.; Avakian, H.; Badui, R. A.; Ball, J.; Balossino, I.; Battaglieri, M.; Bedlinskiy, I.; Biselli, A. S.; Boiarinov, S.; Briscoe, W. J.; Brooks, W. K.; Bültmann, S.; Burkert, V. D.; Cao, T.; Carman, D. S.; Celentano, A.; Chandavar, S.; Charles, G.; Chetry, T.; Ciullo, G.; Clark, L.; Colaneri, L.; Cole, P. L.; Contalbrigo, M.; Cortes, O.; Crede, V.; D'Angelo, A.; Dashyan, N.; De Vita, R.; De Sanctis, E.; Deur, A.; Djalali, C.; Dupre, R.; Egiyan, H.; El Alaoui, A.; El Fassi, L.; Elouadrhiri, L.; Eugenio, P.; Fanchini, E.; Fedotov, G.; Fegan, S.; Fersch, R.; Filippi, A.; Fleming, J. A.; Forest, T. A.; Fradi, A.; Ghandilyan, Y.; Gilfoyle, G. P.; Girod, F. X.; Glazier, D. I.; Gohn, W.; Golovatch, E.; Gothe, R. W.; Griffioen, K. A.; Guidal, M.; Guler, N.; Hakobyan, H.; Guo, L.; Hafidi, K.; Hakobyan, H.; Hanretty, C.; Harrison, N.; Hattawy, M.; Heddle, D.; Hicks, K.; Hollis, G.; Holtrop, M.; Hughes, S. M.; Ireland, D. G.; Isupov, E. L.; Jenkins, D.; Jiang, H.; Jo, H. S.; Joo, K.; Keller, D.; Khachatryan, G.; Khandaker, M.; Kim, W.; Klei, A.; Klein, F. J.; Koirala, S.; Kubarovsky, V.; Kuhn, S. E.; Lanza, L.; Lenisa, P.; Livingston, K.; Lu, H. Y.; MacGregor, I. J. D.; Markov, N.; Mayer, M.; McCracken, M. E.; McKinnon, B.; Mineeva, T.; Mirazita, M.; Mokeev, V. I.; Montgomery, R. A.; Movsisyan, A.; Munoz Camacho, C.; Murdoch, G.; Nadel-Turonski, P.; Ni, A.; Niccolai, S.; Niculescu, G.; Osipenko, M.; Ostrovidov, A. I.; Paolone, M.; Paremuzyan, R.; Park, K.; Pasyuk, E.; Phelps, W.; Pisano, S.; Pogorelko, O.; Price, J. W.; Prok, Y.; Protopopescu, D.; Puckett, A. J. R.; Raue, B. A.; Ripani, M.; Rizzo, A.; Rosner, G.; Rossi, P.; Roy, P.; Sabatié, F.; Saini, M. S.; Schumacher, R. A.; Seder, E.; Sharabian, Y. G.; Skorodumina, Iu.; Smith, G. D.; Sokhan, D.; Sparveris, N.; Stankovic, I.; Stepanyan, S.; Stoler, P.; Strakovsky, I. I.; Strauch, S.; Taiuti, M.; Tian, Ye; Torayev, B.; Ungaro, M.; Voskanyan, H.; Voutier, E.; Walford, N. K.; Watts, D. P.; Wei, X.; Weinstein, L. B.; Zachariou, N.; Zhang, J.; Zhao, Z. W.; Zonta, I.; CLAS Collaboration

    2017-03-01

    Beam-target double-spin asymmetries and target single-spin asymmetries were measured for the exclusive π0 electroproduction reaction γ*p →p π0 , expanding an analysis of the γ*p →n π+ reaction from the same experiment. The results were obtained from scattering of 6-GeV longitudinally polarized electrons off longitudinally polarized protons using the CEBAF Large Acceptance Spectrometer at Jefferson Laboratory. The kinematic ranges covered are 1.1 Q2<6 GeV2. Results were obtained for about 5700 bins in W , Q2, cos(θ*) , and ϕ*. The beam-target asymmetries were found to generally be greater than zero, with relatively modest ϕ* dependence. The target asymmetries exhibit very strong ϕ* dependence, with a change in sign occurring between results at low W and high W , in contrast to π+ electroproduction. Reasonable agreement is found with phenomenological fits to previous data for W <1.6 GeV, but significant differences are seen at higher W . When combined with cross-sectional measurements, as well as π+ observables, the present results will provide powerful constraints on nucleon resonance amplitudes at moderate and large values of Q2, for resonances with masses as high as 2.4 GeV.

  16. Induced Proton Polarization for pi0 Electroproduction at Q2 = 0.126 GeV2/c2 Around the Delta(1232) Resonance

    International Nuclear Information System (INIS)

    Glen Warren; Ricardo Alarcon; Christopher Armstrong; Burin Asavapibhop; David Barkhuff; William Bertozzi; Volker Burkert; Chen, J.; Jian-Ping Chen; Joseph Comfort; Daniel Dale; George Dodson; Dolfini, S.; Dow, K.; Martin Epstein; Manouchehr Farkhondeh; John Finn; Shalev Gilad; Ralf Gothe; Xiaodong Jiang; Mark Jones; Kyungseon Joo; Karabarbounis, A.; James Kelly; Stanley Kowalski; Kunz, C.; Liu, D.; Lourie, R.W.; Richard Madey; Demetrius Margaziotis; Pete Markowitz; Justin McIntyre; Mertz, C.; Brian Milbrath; Rory Miskimen; Joseph Mitchell; Mukhopadhyay, S.; Costas Papanicolas; Charles Perdrisat; Vina Punjabi; Liming Qin; Paul Rutt; Adam Sarty; Jeffrey Shaw; Soong, S.B.; Tieger, D.; Christoph Tschalaer; William Turchinetz; Paul Ulmer; Scott Van Verst; Vellidis, C.; Lawrence Weinstein; Steven Williamson; Rhett Woo; Alaen Young

    1998-01-01

    We present a measurement of the induced proton polarization P n in π 0 electroproduction on the proton around the Δ resonance. The measurement was made at a central invariant mass and a squared four-momentum transfer of W = 1231 MeV and Q 2 = 0.126 GeV 2 /c 2 , respectively. We measured a large induced polarization, P n = -0.397 ± 0.055 ± 0.009. The data suggest that the scalar background is larger than expected from a recent effective Hamiltonian model

  17. Tensor products of Uq′sl-caret(2)-modules and the big q2-Jacobi function transform

    International Nuclear Information System (INIS)

    Gade, R. M.

    2013-01-01

    Four tensor products of evaluation modules of the quantum affine algebra U q ′ sl-caret(2) obtained from the negative and positive series, the complementary and the strange series representations are investigated. Linear operators R(z) satisfying the intertwining property on finite linear combinations of the canonical basis elements of the tensor products are described in terms of two sets of infinite sums {τ (r,t) } r,t∈Z ≥0 and {τ (r,t) } r,t∈Z ≥0 involving big q 2 -Jacobi functions or related nonterminating basic hypergeometric series. Inhomogeneous recurrence relations can be derived for both sets. Evaluations of the simplest sums provide the corresponding initial conditions. For the first set of sums the relations entail a big q 2 -Jacobi function transform pair. An integral decomposition is obtained for the sum τ (r,t) . A partial description of the relation between the decompositions of the tensor products with respect to U q sl(2) or with respect to its complement in U q ′ sl-caret(2) can be formulated in terms of Askey-Wilson function transforms. For a particular combination of two tensor products, the occurrence of proper U q ′ sl-caret(2)-submodules is discussed.

  18. Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders

    DEFF Research Database (Denmark)

    Isles, Anthony R; Ingason, Andrés; Lowther, Chelsea

    2016-01-01

    Duplications at 15q11.2-q13.3 overlapping the Prader-Willi/Angelman syndrome (PWS/AS) region have been associated with developmental delay (DD), autism spectrum disorder (ASD) and schizophrenia (SZ). Due to presence of imprinted genes within the region, the parental origin of these duplications m...

  19. Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report

    Directory of Open Access Journals (Sweden)

    Mulatinho Milene

    2012-06-01

    Full Text Available Abstract Background Recently, array-comparative genomic hybridization (aCGH platforms have significantly improved the resolution of chromosomal analysis allowing the identification of genomic copy number gains and losses smaller than 5 Mb. Here we report on a young man with unexplained severe mental retardation, autism spectrum disorder, congenital malformations comprising hypospadia and omphalocele, and episodes of high blood pressure. An ~ 6 Mb interstitial deletion that includes the causative genes is identified by oligonucleotide-based aCGH. Results Our index case exhibited a de novo chromosomal abnormality at 2q22 [del(2(q22.1q22.3dn] which was not visible at the 550 haploid band level. The deleted region includes eight genes: HNMT, SPOPL, NXPH2, LOC64702, LRP1B, KYNU, ARHGAP15 and GTDC1. Discussion aCGH revealed an ~ 6 Mb deletion in 2q22.1 to 2q22.3 in an as-yet unique clinical case associated with intellectual disability, congenital malformations and autism spectrum disorder. Interestingly, the deletion is co-localized with a fragile site (FRA2K, which could be involved in the formation of this chromosomal aberration. Further studies are needed to determine if deletions of 2q22.1 to 2q22.3 define a new microdeletion syndrome.

  20. Referential communication abilities in children with 22q11.2 deletion syndrome.

    Science.gov (United States)

    Van Den Heuvel, Ellen; ReuterskiöLd, Christina; Solot, Cynthia; Manders, Eric; Swillen, Ann; Zink, Inge

    2017-10-01

    This study describes the performance on a perspective- and role-taking task in 27 children, ages 6-13 years, with 22q11.2 deletion syndrome (22q11.2DS). A cross-cultural design comparing Dutch- and English-speaking children with 22q11.2DS explored the possibility of cultural differences. Chronologically age-matched and younger typically developing (TD) children matched for receptive vocabulary served as control groups to identify challenges in referential communication. The utterances of children with 22q11.2DS were characterised as short and simple in lexical and grammatical terms. However, from a language use perspective, their utterances were verbose, ambiguous and irrelevant given the pictured scenes. They tended to elaborate on visual details and conveyed off-topic, extraneous information when participating in a barrier-game procedure. Both types of aberrant utterances forced a listener to consistently infer the intended message. Moreover, children with 22q11.2DS demonstrated difficulty selecting correct speech acts in accordance with contextual cues during a role-taking task. Both English- and Dutch-speaking children with 22q11.2DS showed impoverished information transfer and an increased number of elaborations, suggesting a cross-cultural syndrome-specific feature.

  1. Q fever and pneumonia in an area with a high livestock density: a large population-based study.

    Directory of Open Access Journals (Sweden)

    Lidwien A M Smit

    Full Text Available Concerns about public health risks of intensive animal production in The Netherlands continue to rise, in particular related to outbreaks of infectious diseases. The aim was to investigate associations between the presence of farm animals around the home address and Q fever and pneumonia.Electronic medical record data for the year 2009 of all patients of 27 general practitioners (GPs in a region with a high density of animal farms were used. Density of farm animals around the home address was calculated using a Geographic Information System. During the study period, a large Q fever outbreak occurred in this region. Associations between farm exposure variables and pneumonia or 'other infectious disease', the diagnosis code used by GPs for registration of Q fever, were analyzed in 22,406 children (0-17 y and 70,142 adults (18-70 y, and adjusted for age and sex. In adults, clear exposure-response relationships between the number of goats within 5 km of the home address and pneumonia and 'other infectious disease' were observed. The association with 'other infectious disease' was particularly strong, with an OR [95%CI] of 12.03 [8.79-16.46] for the fourth quartile (>17,190 goats compared with the first quartile (<2,251 goats. The presence of poultry within 1 km was associated with an increased incidence of pneumonia among adults (OR [95%CI] 1.25 [1.06-1.47].A high density of goats in a densely populated region was associated with human Q fever. The use of GP records combined with individual exposure estimates using a Geographic Information System is a powerful approach to assess environmental health risks.

  2. On sums of q-independent SUq(2) quantum variables

    International Nuclear Information System (INIS)

    Lenczewski, R.

    1993-01-01

    A representation-free approach to the q-analog of the quantum central limit theorem for C=SU 1 (2) is presented. It is shown that for certain functions φε-C* one can derive a version of a quantum central limit theorem (qclt) with √[N] as a scaling parameter, which may be viewed as a q-analog of qclt. (orig.)

  3. Genes encoded within 8q24 on the amplicon of a large extrachromosomal element are selectively repressed during the terminal differentiation of HL-60 cells

    OpenAIRE

    Hirano, Tetsuo; Ike, Fumio; Murata, Takehide; Obata, Yuichi; Utiyama, Hiroyasu; Yokoyama, Kazunari K.

    2008-01-01

    Human acute myeloblastic leukemia HL-60 cells become resistant to differentiation during long­term cultivation. After 150 passages, double minute chromosomes (dmins) found in early­-passaged cells are replaced by large extrachromosomal elements (LEEs). In a DNA library derived from a purified fraction of LEEs, 12.6% (23/183) of clones were assigned to 8q24 and 9.2% (17/183) were assigned to 14q11 in the human genome. Fluorescence in situ hybridization (FISH) revealed a small aberrant chromos...

  4. Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13(q26.2;p11.2: Further Delineation of 3q Duplication Syndrome

    Directory of Open Access Journals (Sweden)

    M. Abreu-González

    2013-01-01

    Full Text Available Chromosomal abnormalities that result in genomic imbalances are a major cause of congenital and developmental anomalies. Partial duplication of chromosome 3q syndrome is a well-described condition, and the phenotypic manifestations include a characteristic facies, microcephaly, hirsutism, synophrys, broad nasal bridge, congenital heart disease, genitourinary disorders, and mental retardation. Approximately 60%–75% of cases are derived from a balanced translocation. We describe a family with a pure typical partial trisomy 3q syndrome derived from a maternal balanced translocation t(3;13(q26.2;p11.2. As the chromosomal rearrangement involves the short arm of an acrocentric chromosome, the phenotype corresponds to a pure trisomy 3q26.2-qter syndrome. There are 4 affected individuals and several carriers among three generations. The report of this family is relevant because there are few cases of pure duplication 3q syndrome reported, and the cases described here contribute to define the phenotype associated with the syndrome. Furthermore, we confirmed that the survival until adulthood is possible. This report also identified the presence of glycosaminoglycans in urine in this family, not related to the chromosomal abnormality or the phenotype.

  5. Measurement of the Photon Structure Function at High $Q^{2}$ at LEP

    CERN Document Server

    Acciarri, M.; Adriani, O.; Aguilar-Benitez, M.; Alcaraz, J.; Alemanni, G.; Allaby, J.; Aloisio, A.; Alviggi, M.G.; Ambrosi, G.; Anderhub, H.; Andreev, Valery P.; Angelescu, T.; Anselmo, F.; Arefev, A.; Azemoon, T.; Aziz, T.; Bagnaia, P.; Bajo, A.; Baksay, L.; Balandras, A.; Banerjee, S.; Banerjee, Sw.; Barczyk, A.; Barillere, R.; Barone, L.; Bartalini, P.; Basile, M.; Battiston, R.; Bay, A.; Becattini, F.; Becker, U.; Behner, F.; Bellucci, L.; Berbeco, R.; Berdugo, J.; Berges, P.; Bertucci, B.; Betev, B.L.; Bhattacharya, S.; Biasini, M.; Biland, A.; Blaising, J.J.; Blyth, S.C.; Bobbink, G.J.; Bohm, A.; Boldizsar, L.; Borgia, B.; Bourilkov, D.; Bourquin, M.; Braccini, S.; Branson, J.G.; Brigljevic, V.; Brochu, F.; Buffini, A.; Buijs, A.; Burger, J.D.; Burger, W.J.; Cai, X.D.; Campanelli, Mario; Capell, M.; Cara Romeo, G.; Carlino, G.; Cartacci, A.M.; Casaus, J.; Castellini, G.; Cavallari, F.; Cavallo, N.; Cecchi, C.; Cerrada, M.; Cesaroni, F.; Chamizo, M.; Chang, Y.H.; Chaturvedi, U.K.; Chemarin, M.; Chen, A.; Chen, G.; Chen, G.M.; Chen, H.F.; Chen, H.S.; Chiefari, G.; Cifarelli, L.; Cindolo, F.; Civinini, C.; Clare, I.; Clare, R.; Coignet, G.; Colijn, A.P.; Colino, N.; Costantini, S.; Cotorobai, F.; Cozzoni, B.; de la Cruz, B.; Csilling, A.; Cucciarelli, S.; Dai, T.S.; van Dalen, J.A.; D'Alessandro, R.; de Asmundis, R.; Deglon, P.; Degre, A.; Deiters, K.; della Volpe, D.; Denes, P.; DeNotaristefani, F.; De Salvo, A.; Diemoz, M.; van Dierendonck, D.; Di Lodovico, F.; Dionisi, C.; Dittmar, M.; Dominguez, A.; Doria, A.; Dova, M.T.; Duchesneau, D.; Dufournaud, D.; Duinker, P.; Duran, I.; El Mamouni, H.; Engler, A.; Eppling, F.J.; Erne, F.C.; Extermann, P.; Fabre, M.; Faccini, R.; Falagan, M.A.; Falciano, S.; Favara, A.; Fay, J.; Fedin, O.; Felcini, M.; Ferguson, T.; Ferroni, F.; Fesefeldt, H.; Fiandrini, E.; Field, J.H.; Filthaut, F.; Fisher, P.H.; Fisk, I.; Forconi, G.; Fredj, L.; Freudenreich, K.; Furetta, C.; Galaktionov, Iouri; Ganguli, S.N.; Garcia-Abia, Pablo; Gataullin, M.; Gau, S.S.; Gentile, S.; Gheordanescu, N.; Giagu, S.; Gong, Z.F.; Grenier, Gerald Jean; Grimm, O.; Gruenewald, M.W.; Guida, M.; van Gulik, R.; Gupta, V.K.; Gurtu, A.; Gutay, L.J.; Haas, D.; Hasan, A.; Hatzifotiadou, D.; Hebbeker, T.; Herve, Alain; Hidas, P.; Hirschfelder, J.; Hofer, H.; Holzner, G.; Hoorani, H.; Hou, S.R.; Hu, Y.; Iashvili, I.; Jin, B.N.; Jones, Lawrence W.; de Jong, P.; Josa-Mutuberria, I.; Khan, R.A.; Kaur, M.; Kienzle-Focacci, M.N.; Kim, D.; Kim, J.K.; Kirkby, Jasper; Kiss, D.; Kittel, W.; Klimentov, A.; Konig, A.C.; Kopp, A.; Koutsenko, V.; Kraber, M.; Kraemer, R.W.; Krenz, W.; Kruger, A.; Kunin, A.; Ladron de Guevara, P.; Laktineh, I.; Landi, G.; Lassila-Perini, K.; Lebeau, M.; Lebedev, A.; Lebrun, P.; Lecomte, P.; Lecoq, P.; Le Coultre, P.; Lee, H.J.; Le Goff, J.M.; Leiste, R.; Leonardi, Emanuele; Levtchenko, P.; Li, C.; Likhoded, S.; Lin, C.H.; Lin, W.T.; Linde, F.L.; Lista, L.; Liu, Z.A.; Lohmann, W.; Longo, E.; Lu, Y.S.; Lubelsmeyer, K.; Luci, C.; Luckey, David; Lugnier, L.; Luminari, L.; Lustermann, W.; Ma, W.G.; Maity, M.; Malgeri, L.; Malinin, A.; Mana, C.; Mangeol, D.; Mans, J.; Marchesini, P.; Marian, G.; Martin, J.P.; Marzano, F.; Massaro, G.G.G.; Mazumdar, K.; McNeil, R.R.; Mele, S.; Merola, L.; Meschini, M.; Metzger, W.J.; von der Mey, M.; Mihul, A.; Milcent, H.; Mirabelli, G.; Mnich, J.; Mohanty, G.B.; Molnar, P.; Monteleoni, B.; Moulik, T.; Muanza, G.S.; Muheim, F.; Muijs, A.J.M.; Musy, M.; Napolitano, M.; Nessi-Tedaldi, F.; Newman, H.; Niessen, T.; Nisati, A.; Kluge, Hannelies; Organtini, G.; Oulianov, A.; Palomares, C.; Pandoulas, D.; Paoletti, S.; Paolucci, P.; Paramatti, R.; Park, H.K.; Park, I.H.; Pascale, G.; Passaleva, G.; Patricelli, S.; Paul, Thomas Cantzon; Pauluzzi, M.; Paus, C.; Pauss, F.; Pedace, M.; Pensotti, S.; Perret-Gallix, D.; Petersen, B.; Piccolo, D.; Pierella, F.; Pieri, M.; Piroue, P.A.; Pistolesi, E.; Plyaskin, V.; Pohl, M.; Pojidaev, V.; Postema, H.; Pothier, J.; Produit, N.; Prokofev, D.O.; Prokofev, D.; Quartieri, J.; Rahal-Callot, G.; Rahaman, M.A.; Raics, P.; Raja, N.; Ramelli, R.; Rancoita, P.G.; Raspereza, A.; Raven, G.; Razis, P.; Ren, D.; Rescigno, M.; Reucroft, S.; van Rhee, T.; Riemann, S.; Riles, Keith; Robohm, A.; Rodin, J.; Roe, B.P.; Romero, L.; Rosca, A.; Rosier-Lees, S.; Rubio, J.A.; Ruschmeier, D.; Rykaczewski, H.; Saremi, S.; Sarkar, S.; Salicio, J.; Sanchez, E.; Sanders, M.P.; Sarakinos, M.E.; Schafer, C.; Schegelsky, V.; Schmidt-Kaerst, S.; Schmitz, D.; Schopper, H.; Schotanus, D.J.; Schwering, G.; Sciacca, C.; Sciarrino, D.; Seganti, A.; Servoli, L.; Shevchenko, S.; Shivarov, N.; Shoutko, V.; Shumilov, E.; Shvorob, A.; Siedenburg, T.; Son, D.; Smith, B.; Spillantini, P.; Steuer, M.; Stickland, D.P.; Stone, A.; Stoyanov, B.; Straessner, A.; Sudhakar, K.; Sultanov, G.; Sun, L.Z.; Suter, H.; Swain, J.D.; Szillasi, Z.; Sztaricskai, T.; Tang, X.W.; Tauscher, L.; Taylor, L.; Tellili, B.; Timmermans, Charles; Ting, Samuel C.C.; Ting, S.M.; Tonwar, S.C.; Toth, J.; Tully, C.; Tung, K.L.; Uchida, Y.; Ulbricht, J.; Valente, E.; Vesztergombi, G.; Vetlitsky, I.; Vicinanza, D.; Viertel, G.; Villa, S.; Vivargent, M.; Vlachos, S.; Vodopianov, I.; Vogel, H.; Vogt, H.; Vorobev, I.; Vorobov, A.A.; Vorvolakos, A.; Wadhwa, M.; Wallraff, W.; Wang, M.; Wang, X.L.; Wang, Z.M.; Weber, A.; Weber, M.; Wienemann, P.; Wilkens, H.; Wu, S.X.; Wynhoff, S.; Xia, L.; Xu, Z.Z.; Yamamoto, J.; Yang, B.Z.; Yang, C.G.; Yang, H.J.; Yang, M.; Ye, J.B.; Yeh, S.C.; Zalite, A.; Zalite, Yu.; Zhang, Z.P.; Zhu, G.Y.; Zhu, R.Y.; Zichichi, A.; Zilizi, G.; Zoller, M.

    2000-01-01

    The structure functions of real and virtual photons are derivedfrom cross section measurements of the reaction$\\rm e^+e^-\\rightarrow e^+e^- + \\hbox{hadrons}$ at LEP.The reaction is studied at $\\sqrt{\\rm {s}} \\simeq 91$ GeV with the L3detector. One of the final state electrons is detected at a large angle relative to the beam direction, leading to $Q^2$ values between40 GeV$^2$ and 500 GeV$^2$.The other final state electron is either undetected or it is detected ata four-momentum transfer squared $P^2$ between 1 GeV$^2$ and 8 GeV$^2$.These measurements are compared with predictions of the Quark PartonModel and other QCD based models.

  6. Experimental cross sections for two-electron capture into nitrogen autoionising states in Nsup(q+) (q=6,7) on He and H/sub 2/ collisions at 10. 5q keV

    Energy Technology Data Exchange (ETDEWEB)

    Bordenave-Montesquieu, A.; Benoit-Cattin, P.; Gleizes, A.; Marrakchi, A.I.; Dousson, S.; Hitz, D.

    1985-07-01

    Singly differential cross sections for two-electron capture into autoionising states (nl,n'l') with n=2,3,4 and n'>=n in Nsup(q+) (q=6,7) on He and H/sub 2/ collisions have been measured at 10,5q ke V collision energy and an observation angle thetasub(lab)=11.6/sup 0/. Total cross sections are estimated assuming isotropic angular distributions. (orig.).

  7. Functional differential equations for the q-Fourier transform of q-Gaussians

    International Nuclear Information System (INIS)

    Umarov, S; Queiros, S M Duarte

    2010-01-01

    In this paper the question 'is the q-Fourier transform of a q-Gaussian a q'-Gaussian (with some q') up to a constant factor?' is studied for the whole range of q in (- infty, 3). This question is connected with applicability of the q-Fourier transform in the study of limit processes in nonextensive statistical mechanics. Using the functional differential equation approach we prove that the answer is affirmative if and only if 1 ≤ q < 3, excluding two particular cases of q < 1, namely q=1/2 and q=2/3. Complementarily, we discuss some applications of the q-Fourier transform to nonlinear partial differential equations such as the porous medium equation.

  8. Functional differential equations for the q-Fourier transform of q-Gaussians

    Energy Technology Data Exchange (ETDEWEB)

    Umarov, S [Department of Mathematics, Tufts University, Medford, MA (United States); Queiros, S M Duarte, E-mail: sdqueiro@gmail.co [Unilever R and D Port Sunlight, Quarry Road East, Wirral, CH63 3JW (United Kingdom)

    2010-02-05

    In this paper the question 'is the q-Fourier transform of a q-Gaussian a q'-Gaussian (with some q') up to a constant factor?' is studied for the whole range of q in (- infty, 3). This question is connected with applicability of the q-Fourier transform in the study of limit processes in nonextensive statistical mechanics. Using the functional differential equation approach we prove that the answer is affirmative if and only if 1 <= q < 3, excluding two particular cases of q < 1, namely q=1/2 and q=2/3. Complementarily, we discuss some applications of the q-Fourier transform to nonlinear partial differential equations such as the porous medium equation.

  9. The q-deformed SU(2) Heisenberg model in 3-dimensions

    International Nuclear Information System (INIS)

    Lu Zhongyi; Yan Hong.

    1991-07-01

    A q-deformed SU(2) Heisenberg (3-dimensional) spin model is set up, and the q-deformed spin-wave solution is obtained through the q-analogous Holstein-Primakoff transformation. The result is given for small γ = ln q, which is the quantity characterizing the nonlinearity of the Hamiltonian. A mean-field treatment is arranged to preserved (at least some of) the nonlinearity, and the ordinary ferromagnet ground state is shown as the exact ground state of the new system. Interesting results are obtained for this nonlinear model: (i) There is an energy gap between the ground state and the first excited one, thus the ground state is stable under small perturbation of the background; (ii) the specific heat per volume is modified by a small term proportional to the 1/2-th power of temperature and the square of γ, which is qualitatively different from the conventional model, and (iii) the magnetization M(T) is modified by a factor that depends on γ. (author). 16 refs

  10. Measurement of the high-field Q-drop in a high-purity large-grain niobium cavity for different oxidation processes

    Energy Technology Data Exchange (ETDEWEB)

    Ciovati, Gianluigi; Kneisel, Peter; gurevich, alex

    2007-06-01

    The most challenging issue for understanding the performance of superconducting radio-frequency (rf) cavities made of high-purity (residual resistivity ratio > 200) niobium is due to a sharp degradation (“Q-drop”) of the cavity quality factor Q0(Bp) as the peak surface magnetic field (Bp) exceeds about 90 mT, in the absence of field emission. In addition, a low-temperature (100 – 140 C) “in-situ” baking of the cavity was found to be beneficial in reducing the Q-drop. In this contribution, we present the results from a series of rf tests at 1.7 K and 2.0 K on a single-cell cavity made of high-purity large (with area of the order of few cm2) grain niobium which underwent various oxidation processes, after initial buffered chemical polishing, such as anodization, baking in pure oxygen atmosphere and baking in air up to 180 °C, with the objective of clearly identifying the role of oxygen and the oxide layer on the Q-drop. During each rf test a temperature mapping system allows measuring the local temperature rise of the cavity outer surface due to rf losses, which gives information about the losses location, their field dependence and space distribution. The results confirmed that the depth affected by baking is about 20 – 30 nm from the surface and showed that the Q-drop did not re-appear in a previously baked cavity by further baking at 120 °C in pure oxygen atmosphere or in air up to 180 °C. These treatments increased the oxide thickness and oxygen concentration, measured on niobium samples which were processed with the cavity and were analyzed with Transmission Electron Microscope (TEM) and Secondary Ion Mass Spectroscopy (SIMS). Nevertheless, the performance of the cavity after air baking at 180 °C degraded significantly and the temperature maps showed high losses, uniformly distributed on the surface, which could be completely recovered only by a post-purification treatment at 1250 °C. A statistic of the position of the “hot-spots” on the

  11. Measurement of the high-field Q drop in a high-purity large-grain niobium cavity for different oxidation processes

    Directory of Open Access Journals (Sweden)

    G. Ciovati

    2007-06-01

    Full Text Available The most challenging issue for understanding the performance of superconducting radio-frequency (rf cavities made of high-purity (residual resistivity ratio >200 niobium is due to a sharp degradation (“Q-drop” of the cavity quality factor Q_{0}(B_{p} as the peak surface magnetic field (B_{p} exceeds about 90 mT, in the absence of field emission. In addition, a low-temperature (100–140°C in situ baking of the cavity was found to be beneficial in reducing the Q-drop. In this contribution, we present the results from a series of rf tests at 1.7 and 2.0 K on a single-cell cavity made of high-purity large (with area of the order of few cm^{2} grain niobium which underwent various oxidation processes, after initial buffered chemical polishing, such as anodization, baking in pure oxygen atmosphere, and baking in air up to 180°C, with the objective of clearly identifying the role of oxygen and the oxide layer on the Q-drop. During each rf test a temperature mapping system allows measuring the local temperature rise of the cavity outer surface due to rf losses, which gives information about the losses location, their field dependence, and space distribution. The results confirmed that the depth affected by baking is about 20–30 nm from the surface and showed that the Q-drop did not reappear in a previously baked cavity by further baking at 120°C in pure oxygen atmosphere or in air up to 180°C. These treatments increased the oxide thickness and oxygen concentration, measured on niobium samples which were processed with the cavity and were analyzed with transmission electron microscope and secondary ion mass spectroscopy. Nevertheless, the performance of the cavity after air baking at 180°C degraded significantly and the temperature maps showed high losses, uniformly distributed on the surface, which could be completely recovered only by a postpurification treatment at 1250°C. A statistic of the position of the “hot spots” on the

  12. Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies.

    Science.gov (United States)

    Leu, Costin; de Kovel, Carolien G F; Zara, Federico; Striano, Pasquale; Pezzella, Marianna; Robbiano, Angela; Bianchi, Amedeo; Bisulli, Francesca; Coppola, Antonietta; Giallonardo, Anna Teresa; Beccaria, Francesca; Trenité, Dorothée Kasteleijn-Nolst; Lindhout, Dick; Gaus, Verena; Schmitz, Bettina; Janz, Dieter; Weber, Yvonne G; Becker, Felicitas; Lerche, Holger; Kleefuss-Lie, Ailing A; Hallman, Kerstin; Kunz, Wolfram S; Elger, Christian E; Muhle, Hiltrud; Stephani, Ulrich; Møller, Rikke S; Hjalgrim, Helle; Mullen, Saul; Scheffer, Ingrid E; Berkovic, Samuel F; Everett, Kate V; Gardiner, Mark R; Marini, Carla; Guerrini, Renzo; Lehesjoki, Anna-Elina; Siren, Auli; Nabbout, Rima; Baulac, Stephanie; Leguern, Eric; Serratosa, Jose M; Rosenow, Felix; Feucht, Martha; Unterberger, Iris; Covanis, Athanasios; Suls, Arvid; Weckhuysen, Sarah; Kaneva, Radka; Caglayan, Hande; Turkdogan, Dilsad; Baykan, Betul; Bebek, Nerses; Ozbek, Ugur; Hempelmann, Anne; Schulz, Herbert; Rüschendorf, Franz; Trucks, Holger; Nürnberg, Peter; Avanzini, Giuliano; Koeleman, Bobby P C; Sander, Thomas

    2012-02-01

    Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3% with heritability estimates of 80%. A considerable proportion of families with siblings affected by GGEs presumably display an oligogenic inheritance. The present genome-wide linkage meta-analysis aimed to map: (1) susceptibility loci shared by a broad spectrum of GGEs, and (2) seizure type-related genetic factors preferentially predisposing to either typical absence or myoclonic seizures, respectively. Meta-analysis of three genome-wide linkage datasets was carried out in 379 GGE-multiplex families of European ancestry including 982 relatives with GGEs. To dissect out seizure type-related susceptibility genes, two family subgroups were stratified comprising 235 families with predominantly genetic absence epilepsies (GAEs) and 118 families with an aggregation of juvenile myoclonic epilepsy (JME). To map shared and seizure type-related susceptibility loci, both nonparametric loci (NPL) and parametric linkage analyses were performed for a broad trait model (GGEs) in the entire set of GGE-multiplex families and a narrow trait model (typical absence or myoclonic seizures) in the subgroups of JME and GAE families. For the entire set of 379 GGE-multiplex families, linkage analysis revealed six loci achieving suggestive evidence for linkage at 1p36.22, 3p14.2, 5q34, 13q12.12, 13q31.3, and 19q13.42. The linkage finding at 5q34 was consistently supported by both NPL and parametric linkage results across all three family groups. A genome-wide significant nonparametric logarithm of odds score of 3.43 was obtained at 2q34 in 118 JME families. Significant parametric linkage to 13q31.3 was found in 235 GAE families assuming recessive inheritance (heterogeneity logarithm of odds = 5.02). Our linkage results support an oligogenic predisposition of familial GGE syndromes. The genetic risk factor at 5q34 confers risk to a broad spectrum of familial GGE syndromes, whereas susceptibility loci at 2q34 and 13q31

  13. Microdeletion 15q26.2qter and Microduplication 18q23 in a Patient with Prader-Willi-Like Syndrome: Clinical Findings.

    Science.gov (United States)

    Dello Russo, Patrizia; Demori, Eliana; Sechi, Annalisa; Passon, Nadia; Romagno, Daniela; Gnan, Chiara; Zoratti, Raffaele; Damante, Giuseppe

    2016-01-01

    The small interstitial deletion in the long arm of chromosome 15 causing Prader-Willi/Angelman syndrome is well known, whereas cases that report terminal deletions in 15q in association with the Prader-Willi-like phenotype are very rare. By using GTG-banding analysis, metaphase FISH, MLPA analysis, and genome-wide array CGH, we detected an unbalanced translocation involving a microdeletion of the distal part of 15q and a microduplication of the distal part of 18q. The unbalanced translocation was found in a boy that was referred with clinical suspicion of Prader-Willi syndrome. In the 15q-deleted region, 23 genes have been identified, and 13 of them are included in the OMIM database. Among these, the deleted IGFR1, MEF2A, CHSY1, and TM2D3 genes could contribute to the patient's phenotype. Seven genes are included in the duplicated chromosome segment 18q, but only one (CTDP1) is present in the OMIM database. We suggest that the deleted chromosome segment 15q26.2qter may be responsible for the phenotype of our case and may also be a candidate locus of Prader-Willi-like syndrome. © 2016 S. Karger AG, Basel.

  14. Supplementation of Coenzyme Q10 among Patients with Type 2 Diabetes Mellitus

    Directory of Open Access Journals (Sweden)

    Qiuhua Shen

    2015-05-01

    Full Text Available Type 2 diabetes mellitus (T2DM is a major cause of morbidity and mortality with ever increasing prevalence in the United States and worldwide. There is growing body of evidence suggesting that mitochondrial dysfunction secondary to oxidative stress plays a critical role in the pathogenesis of T2DM. Coenzyme Q10 is an important micronutrient acting on the electron transport chain of the mitochondria with two major functions: (1 synthesis of adenosine triphosphate (ATP; and (2 a potent antioxidant. Deficiency in coenzyme Q10 is often seen in patients with T2DM. Whether restoration of coenzyme Q10 will help alleviate oxidative stress, preserve mitochondrial function, and thus improve glycemic control in T2DM is unclear. This article reviews the relationships among oxidative stress, mitochondrial dysfunction, and T2DM and examines the evidence for potential use of coenzyme Q10 as a supplement for the treatment of T2DM.

  15. Nonpointlike-parton model with asymptotic scaling and with scaling violationat moderate Q2 values

    International Nuclear Information System (INIS)

    Chen, C.K.

    1981-01-01

    A nonpointlike-parton model is formulated on the basis of the assumption of energy-independent total cross sections of partons and the current-algebra sum rules. No specific strong-interaction Lagrangian density is introduced in this approach. This model predicts asymptotic scaling for the inelastic structure functions of nucleons on the one hand and scaling violation at moderate Q 2 values on the other hand. The predicted scaling-violation patterns at moderate Q 2 values are consistent with the observed scaling-violation patterns. A numerical fit of F 2 functions is performed in order to demonstrate that the predicted scaling-violation patterns of this model at moderate Q 2 values fit the data, and to see how the predicted asymptotic scaling behavior sets in at various x values. Explicit analytic forms of F 2 functions are obtained from this numerical fit, and are compared in detail with the analytic forms of F 2 functions obtained from the numerical fit of the quantum-chromodynamics (QCD) parton model. This comparison shows that this nonpointlike-parton model fits the data better than the QCD parton model, especially at large and small x values. Nachtman moments are computed from the F 2 functions of this model and are shown to agree with data well. It is also shown that the two-dimensional plot of the logarithm of a nonsinglet moment versus the logarithm of another such moment is not a good way to distinguish this nonpointlike-parton model from the QCD parton model

  16. Λ2 of effective q.c.d. in the minimal subtraction scheme

    International Nuclear Information System (INIS)

    Miller, R.D.C.; McKellar, B.H.J.

    1981-01-01

    Practical Q.C.D. is an effective field theory in that unexcited heavy quarks are decoupled from the theory. To predict effects dependent on the heavy quarks one needs the R.G. invariants of the effective Q.C.D. in which they are retained. The R.G. invariants Λsub(n) 2 of the effective n flavour Q.C.D. are calculated from the observed Λ 4 2

  17. The q-dependent detrended cross-correlation analysis of stock market

    Science.gov (United States)

    Zhao, Longfeng; Li, Wei; Fenu, Andrea; Podobnik, Boris; Wang, Yougui; Stanley, H. Eugene

    2018-02-01

    Properties of the q-dependent cross-correlation matrices of the stock market have been analyzed by using random matrix theory and complex networks. The correlation structures of the fluctuations at different magnitudes have unique properties. The cross-correlations among small fluctuations are much stronger than those among large fluctuations. The large and small fluctuations are dominated by different groups of stocks. We use complex network representation to study these q-dependent matrices and discover some new identities. By utilizing those q-dependent correlation-based networks, we are able to construct some portfolios of those more independent stocks which consistently perform better. The optimal multifractal order for portfolio optimization is around q  =  2 under the mean-variance portfolio framework, and q\\in[2, 6] under the expected shortfall criterion. These results have deepened our understanding regarding the collective behavior of the complex financial system.

  18. Frontal dysconnectivity in 22q11.2 deletion syndrome: an atlas-based functional connectivity analysis.

    Science.gov (United States)

    Mattiaccio, Leah M; Coman, Ioana L; Thompson, Carlie A; Fremont, Wanda P; Antshel, Kevin M; Kates, Wendy R

    2018-01-20

    22q11.2 deletion syndrome (22q11DS) is a neurodevelopmental syndrome associated with deficits in cognitive and emotional processing. This syndrome represents one of the highest risk factors for the development of schizophrenia. Previous studies of functional connectivity (FC) in 22q11DS report aberrant connectivity patterns in large-scale networks that are associated with the development of psychotic symptoms. In this study, we performed a functional connectivity analysis using the CONN toolbox to test for differential connectivity patterns between 54 individuals with 22q11DS and 30 healthy controls, between the ages of 17-25 years old. We mapped resting-state fMRI data onto 68 atlas-based regions of interest (ROIs) generated by the Desikan-Killany atlas in FreeSurfer, resulting in 2278 ROI-to-ROI connections for which we determined total linear temporal associations between each. Within the group with 22q11DS only, we further tested the association between prodromal symptoms of psychosis and FC. We observed that relative to controls, individuals with 22q11DS displayed increased FC in lobar networks involving the frontal-frontal, frontal-parietal, and frontal-occipital ROIs. In contrast, FC between ROIs in the parietal-temporal and occipital lobes was reduced in the 22q11DS group relative to healthy controls. Moreover, positive psychotic symptoms were positively associated with increased functional connections between the left precuneus and right superior frontal gyrus, as well as reduced functional connectivity between the bilateral pericalcarine. Positive symptoms were negatively associated with increased functional connectivity between the right pericalcarine and right postcentral gyrus. Our results suggest that functional organization may be altered in 22q11DS, leading to disruption in connectivity between frontal and other lobar substructures, and potentially increasing risk for prodromal psychosis.

  19. A possible early experimental test for a large ΔG(x,Q2)

    International Nuclear Information System (INIS)

    Sivers, D.; Ramsey, G.

    1988-01-01

    A proposal that the net spin carried by gluons in a polarized proton may be very large compared to 1/2 has recently received considerable theoretical attention. There exists a unique opportunity to test for this dramatic possibility using an existing experimental setup. We urge the consideration of a precision measurement (+-10μb) of Δσ/sub L//sup jet/(pp; p 0 ,√s) at p 0 2 = 5 GeV 2 and s = 400 GeV 2 using the Fermilab polarized beam facility. 10 refs

  20. Determination of the proton spin structure functions for 0.05 <Q2<5 GeV2 using CLAS

    Science.gov (United States)

    Fersch, R. G.; Guler, N.; Bosted, P.; Deur, A.; Griffioen, K.; Keith, C.; Kuhn, S. E.; Minehart, R.; Prok, Y.; Adhikari, K. P.; Adhikari, S.; Akbar, Z.; Amaryan, M. J.; Anefalos Pereira, S.; Asryan, G.; Avakian, H.; Ball, J.; Balossino, I.; Baltzell, N. A.; Battaglieri, M.; Bedlinskiy, I.; Biselli, A. S.; Briscoe, W. J.; Brooks, W. K.; Bültmann, S.; Burkert, V. D.; Thanh Cao, Frank; Carman, D. S.; Careccia, S.; Celentano, A.; Chandavar, S.; Charles, G.; Chetry, T.; Ciullo, G.; Clark, L.; Colaneri, L.; Cole, P. L.; Compton, N.; Contalbrigo, M.; Cortes, O.; Crede, V.; D'Angelo, A.; Dashyan, N.; De Vita, R.; De Sanctis, E.; Djalali, C.; Dodge, G. E.; Dupre, R.; Egiyan, H.; El Alaoui, A.; El Fassi, L.; Elouadrhiri, L.; Eugenio, P.; Fanchini, E.; Fedotov, G.; Filippi, A.; Fleming, J. A.; Forest, T. A.; Garçon, M.; Gavalian, G.; Ghandilyan, Y.; Gilfoyle, G. P.; Giovanetti, K. L.; Girod, F. X.; Gleason, C.; Golovatch, E.; Gothe, R. W.; Guidal, M.; Guo, L.; Hafidi, K.; Hakobyan, H.; Hanretty, C.; Harrison, N.; Hattawy, M.; Heddle, D.; Hicks, K.; Holtrop, M.; Hughes, S. M.; Ilieva, Y.; Ireland, D. G.; Ishkhanov, B. S.; Isupov, E. L.; Jenkins, D.; Joo, K.; Keller, D.; Khachatryan, G.; Khachatryan, M.; Khandaker, M.; Kim, A.; Kim, W.; Klein, A.; Klein, F. J.; Kubarovsky, V.; Lagerquist, V. G.; Lanza, L.; Lenisa, P.; Livingston, K.; Lu, H. Y.; McKinnon, B.; Meyer, C. A.; Mirazita, M.; Mokeev, V.; Montgomery, R. A.; Movsisyan, A.; Munoz Camacho, C.; Murdoch, G.; Nadel-Turonski, P.; Niccolai, S.; Niculescu, G.; Niculescu, I.; Osipenko, M.; Ostrovidov, A. I.; Paolone, M.; Paremuzyan, R.; Park, K.; Pasyuk, E.; Phelps, W.; Pierce, J.; Pisano, S.; Pogorelko, O.; Price, J. W.; Protopopescu, D.; Raue, B. A.; Ripani, M.; Riser, D.; Rizzo, A.; Rosner, G.; Rossi, P.; Roy, P.; Sabatié, F.; Salgado, C.; Schumacher, R. A.; Sharabian, Y. G.; Simonyan, A.; Skorodumina, Iu.; Smith, G. D.; Sokhan, D.; Sparveris, N.; Stankovic, I.; Stepanyan, S.; Strakovsky, I. I.; Strauch, S.; Taiuti, M.; Tian, Ye; Torayev, B.; Ungaro, M.; Voskanyan, H.; Voutier, E.; Walford, N. K.; Watts, D. P.; Wei, X.; Weinstein, L. B.; Zachariou, N.; Zhang, J.; CLAS Collaboration

    2017-12-01

    We present the results of our final analysis of the full data set of g1p(Q2) , the spin structure function of the proton, collected using CLAS at Jefferson Laboratory in 2000-2001. Polarized electrons with energies of 1.6, 2.5, 4.2, and 5.7 GeV were scattered from proton targets (NH153 dynamically polarized along the beam direction) and detected with CLAS. From the measured double spin asymmetries, we extracted virtual photon asymmetries A1p and A2p and spin structure functions g1p and g2p over a wide kinematic range (0.05 GeV2<Q2< 5 GeV2 and 1.08 GeV large x , offer a better understanding of quark-hadron duality, and provide more precise values of higher twist matrix elements in the framework of the operator product expansion.

  1. Unitarized model of inclusive and diffractive DIS with Q2 evolution

    International Nuclear Information System (INIS)

    Armesto, Nestor; Salgado, Carlos A.; Tywoniuk, Konrad; Kaidalov, Alexei B.

    2010-01-01

    We discuss the interplay of low-x physics and QCD scaling violations by extending the unified approach describing inclusive structure functions and diffractive production in γ*p interactions proposed in previous papers to large values of Q 2 . We describe the procedure of extracting, from the nonperturbative model, initial conditions for the QCD evolution that respect unitarity. Assuming Regge factorization of the diffractive structure function, a similar procedure is proposed for the calculation of hard diffraction. The results are in good agreement with experimental data on the proton structure function F 2 and the most recent data on the reduced diffractive cross section, x P σ r D(3) . Predictions for both F 2 and F L are presented in a wide kinematical range and compared to calculations within high-energy QCD.

  2. The asymptotic 3-loop heavy flavor corrections to the charged current structure functions F{sup W{sup +-W{sup -}{sub L}}}(x,Q{sup 2}) and F{sup W{sup +-W{sup -}{sub 2}}}(x,Q{sup 2})

    Energy Technology Data Exchange (ETDEWEB)

    Behring, A.; Bluemlein, J.; Falcioni, G.; Freitas, A. de [Deutsches Elektronen-Synchrotron (DESY), Zeuthen (Germany); Manteuffel, A. von [Michigan State Univ., East Lansing, MI (United States). Dept. of Physics and Astronomy; Mainz Univ. (Germany). PRISMA Cluster of Excellence; Schneider, C. [Johannes Kepler Univ., Linz (Austria). Research Inst. for Symbolic Computation

    2016-09-15

    We calculate the massive Wilson coefficients for the heavy flavor contributions to the non-singlet charged current deep-inelastic scattering structure functions F{sup W{sup +}{sub L}}(x,Q{sup 2})-F{sup W{sup -}{sub L}}(x,Q{sup 2}) and F{sup W{sup +}{sub 2}}(x,Q{sup 2}) - F{sup W{sup -}{sub 2}}(x,Q{sup 2}) in the asymptotic region Q{sup 2}>>m{sup 2} to 3-loop order in Quantum Chromodynamics (QCD) at general values of the Mellin variable N and the momentum fraction x. Besides the heavy quark pair production, also the single heavy flavor excitation s→c contributes. Numerical results are presented for the charm quark contributions and consequences on the unpolarized Bjorken sum rule and Adler sum rule are discussed.

  3. Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.

    Directory of Open Access Journals (Sweden)

    Jill A Rosenfeld

    Full Text Available Recurrent deletions of 2q32q33 have recently been reported as a new microdeletion syndrome. Clinical features of this syndrome include severe mental retardation, growth retardation, dysmorphic features, thin and sparse hair, feeding difficulties and cleft or high palate. The commonly deleted region contains at least seven genes. Haploinsufficiency of one of these genes, SATB2, a DNA-binding protein that regulates gene expression, has been implicated as causative in the cleft or high palate of individuals with 2q32q33 microdeletion syndrome. In this study we describe three individuals with smaller microdeletions of this region, within 2q33.1. The deletions ranged in size from 173.1 kb to 185.2 kb and spanned part of SATB2. Review of clinical records showed similar clinical features among these individuals, including severe developmental delay and tooth abnormalities. Two of the individuals had behavioral problems. Only one of the subjects presented here had a cleft palate, suggesting reduced penetrance for this feature. Our results suggest that deletion of SATB2 is responsible for several of the clinical features associated with 2q32q33 microdeletion syndrome.

  4. Towards a large deviation theory for strongly correlated systems

    International Nuclear Information System (INIS)

    Ruiz, Guiomar; Tsallis, Constantino

    2012-01-01

    A large-deviation connection of statistical mechanics is provided by N independent binary variables, the (N→∞) limit yielding Gaussian distributions. The probability of n≠N/2 out of N throws is governed by e −Nr , r related to the entropy. Large deviations for a strong correlated model characterized by indices (Q,γ) are studied, the (N→∞) limit yielding Q-Gaussians (Q→1 recovers a Gaussian). Its large deviations are governed by e q −Nr q (∝1/N 1/(q−1) , q>1), q=(Q−1)/(γ[3−Q])+1. This illustration opens the door towards a large-deviation foundation of nonextensive statistical mechanics. -- Highlights: ► We introduce the formalism of relative entropy for a single random binary variable and its q-generalization. ► We study a model of N strongly correlated binary random variables and their large-deviation probabilities. ► Large-deviation probability of strongly correlated model exhibits a q-exponential decay whose argument is proportional to N, as extensivity requires. ► Our results point to a q-generalized large deviation theory and suggest a large-deviation foundation of nonextensive statistical mechanics.

  5. Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease.

    Directory of Open Access Journals (Sweden)

    Min Peng

    2008-04-01

    Full Text Available Coenzyme Q (CoQ is an essential electron carrier in the respiratory chain whose deficiency has been implicated in a wide variety of human mitochondrial disease manifestations. Its multi-step biosynthesis involves production of polyisoprenoid diphosphate in a reaction that requires the enzymes be encoded by PDSS1 and PDSS2. Homozygous mutations in either of these genes, in humans, lead to severe neuromuscular disease, with nephrotic syndrome seen in PDSS2 deficiency. We now show that a presumed autoimmune kidney disease in mice with the missense Pdss2(kd/kd genotype can be attributed to a mitochondrial CoQ biosynthetic defect. Levels of CoQ9 and CoQ10 in kidney homogenates from B6.Pdss2(kd/kd mutants were significantly lower than those in B6 control mice. Disease manifestations originate specifically in glomerular podocytes, as renal disease is seen in Podocin/cre,Pdss2(loxP/loxP knockout mice but not in conditional knockouts targeted to renal tubular epithelium, monocytes, or hepatocytes. Liver-conditional B6.Alb/cre,Pdss2(loxP/loxP knockout mice have no overt disease despite demonstration that their livers have undetectable CoQ9 levels, impaired respiratory capacity, and significantly altered intermediary metabolism as evidenced by transcriptional profiling and amino acid quantitation. These data suggest that disease manifestations of CoQ deficiency relate to tissue-specific respiratory capacity thresholds, with glomerular podocytes displaying the greatest sensitivity to Pdss2 impairment.

  6. Representations of the q-deformed algebras Uq (so2,1) and Uq (so3,1)

    International Nuclear Information System (INIS)

    Gavrilik, O.M.; Klimyk, A.U.

    1993-01-01

    Representations of algebra U q (so 2 ,1) are studied. This algebra is a q-deformation of the universal enveloping algebra U(so 2 ,1) of the Lie algebra of the group SO 0 (2,1) and differs from the quantum algebra U q (SU 1 ,1). Classifications of irreducible representations and of infinitesimally irreducible representations of U q (SU 1 ,1). The sets of irreducible representations and of infinitesimally unitary irreducible representations of the algebra U q (so 3 ,1) are given. We also consider representations of U q (so n ,1) which are of class 1 with respect to subalgebra U q (so n ). (author). 22 refs

  7. Contrasting roles of the ABCG2 Q141K variant in prostate cancer

    Energy Technology Data Exchange (ETDEWEB)

    Sobek, Kathryn M. [Department of Urology, University of Pittsburgh School of Medicine, Pittsburgh, PA (United States); Cummings, Jessica L. [Department of Urology, University of Pittsburgh School of Medicine, Pittsburgh, PA (United States); Department of Critical Care Medicine, University of Pittsburgh, Pittsburgh, PA (United States); Bacich, Dean J. [Department of Urology, University of Pittsburgh School of Medicine, Pittsburgh, PA (United States); Department of Urology, University of Texas Health Science Center, San Antonio, TX (United States); O’Keefe, Denise S., E-mail: OKeefeD@uthscsa.edu [Department of Urology, University of Pittsburgh School of Medicine, Pittsburgh, PA (United States); Department of Urology, University of Texas Health Science Center, San Antonio, TX (United States)

    2017-05-01

    ABCG2 is a membrane transport protein that effluxes growth-promoting molecules, such as folates and dihydrotestosterone, as well as chemotherapeutic agents. Therefore it is important to determine how variants of ABCG2 affect the transporter function in order to determine whether modified treatment regimens may be necessary for patients harboring ABCG2 variants. Previous studies have demonstrated an association between the ABCG2 Q141K variant and overall survival after a prostate cancer diagnosis. We report here that in patients with recurrent prostate cancer, those who carry the ABCG2 Q141K variant had a significantly shorter time to PSA recurrence post-prostatectomy than patients homozygous for wild-type ABCG2 (P=0.01). Transport studies showed that wild-type ABCG2 was able to efflux more folic acid than the Q141K variant (P<0.002), suggesting that retained tumoral folate contributes to the decreased time to PSA recurrence in the Q141K variant patients. In a seemingly conflicting study, it was previously reported that docetaxel-treated Q141K variant prostate cancer patients have a longer survival time. We found this may be due to less efficient docetaxel efflux in cells with the Q141K variant versus wild-type ABCG2. In human prostate cancer tissues, confocal microscopy revealed that all genotypes had a mixture of cytoplasmic and plasma membrane staining, with noticeably less staining in the two homozygous KK patients. In conclusion, the Q141K variant plays contrasting roles in prostate cancer: 1) by decreasing folate efflux, increased intracellular folate levels result in enhanced tumor cell proliferation and therefore time to recurrence decreases; and 2) in patients treated with docetaxel, by decreasing its efflux, intratumoral docetaxel levels and tumor cell drug sensitivity increase and therefore patient survival time increases. Taken together, these data suggest that a patient's ABCG2 genotype may be important when determining a personalized treatment

  8. Coenzyme Q10 effects in neurodegenerative disease

    Directory of Open Access Journals (Sweden)

    Meredith Spindler

    2009-11-01

    Full Text Available Meredith Spindler1, M Flint Beal1,2, Claire Henchcliffe1,21Department of Neurology, 2Department of Neuroscience, Weill Medical College of Cornell University, New York, NY, USAAbstract: Coenzyme Q10 (CoQ10 is an essential cofactor in the mitochondrial respiratory chain, and as a dietary supplement it has recently gained attention for its potential role in the treatment of neurodegenerative disease. Evidence for mitochondrial dysfunction in neurodegenerative disorders derives from animal models, studies of mitochondria from patients, identification of genetic defects in patients with neurodegenerative disease, and measurements of markers of oxidative stress. Studies of in vitro models of neuronal toxicity and animal models of neurodegenerative disorders have demonstrated potential neuroprotective effects of CoQ10. With this data in mind, several clinical trials of CoQ10 have been performed in Parkinson’s disease and atypical Parkinson’s syndromes, Huntington’s disease, Alzheimer disease, Friedreich’s ataxia, and amyotrophic lateral sclerosis, with equivocal findings. CoQ10 is widely available in multiple formulations and is very well tolerated with minimal adverse effects, making it an attractive potential therapy. Phase III trials of high-dose CoQ10 in large sample sizes are needed to further ascertain the effects of CoQ10 in neurodegenerative diseases.Keywords: coenzyme Q10, neurodegenerative disease, Parkinson’s disease, Huntington’s disease, mitochondrial dysfunction

  9. Combination of CO2 and Q-switched Nd:YAG lasers is more effective than Q-switched Nd:YAG laser alone for eyebrow tattoo removal.

    Science.gov (United States)

    Radmanesh, Mohammad; Rafiei, Zohreh

    2015-04-01

    The eyebrow tattoo removal using Q-switched lasers is usually prolonged. Other modalities may be required to enhance the efficacy and shorten the treatment course. To compare the efficacy of Q-switched neodymium-doped yttrium aluminum garnet (Nd:YAG) laser alone versus combination of Q-switched Nd:YAG and Ultrapulse CO2 lasers for eyebrow tattoo removal after a single session. After local anesthesia, the right eyebrow of 20 patients was treated with Ultrapulse CO2 laser with the parameters of 4 J/cm(2) and 3.2 J/cm(2) for the first and the second passes. Both eyebrows were then treated with 1064-nm and 532-nm Q-switched Nd:YAG laser. The spot size and pulse duration were 3 mm and 5 nanoseconds for both wavelengths, and the fluence was 7 J/cm(2) for 1064 nm and 3 J/cm (2) for 532 nm. The side treated with combination of Q-switched Nd:YAG and CO2 lasers improved 75-100% in 6 of 20 patients versus only 1 of 20 in the side treated with Q-switched Nd:YAG alone. Similarly, the right side in 13 of 20 patients showed more than 50% improvement with combination therapy versus the left side (the monotherapy side), where only 6 of 20 cases showed more than 50% improvement. The Mann-Whitney test was 2.85 for the right side and 1.95 for the left side (P value = 0.007). Using Ultra pulse CO2 laser enhances the efficacy of Q-switched Nd:YAG laser in eyebrow tattoo removal.

  10. Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

    Science.gov (United States)

    Mullegama, Sureni V; Rosenfeld, Jill A; Orellana, Carmen; van Bon, Bregje W M; Halbach, Sara; Repnikova, Elena A; Brick, Lauren; Li, Chumei; Dupuis, Lucie; Rosello, Monica; Aradhya, Swaroop; Stavropoulos, D James; Manickam, Kandamurugu; Mitchell, Elyse; Hodge, Jennelle C; Talkowski, Michael E; Gusella, James F; Keller, Kory; Zonana, Jonathan; Schwartz, Stuart; Pyatt, Robert E; Waggoner, Darrel J; Shaffer, Lisa G; Lin, Angela E; de Vries, Bert B A; Mendoza-Londono, Roberto; Elsea, Sarah H

    2014-01-01

    Copy number variations associated with abnormal gene dosage have an important role in the genetic etiology of many neurodevelopmental disorders, including intellectual disability (ID) and autism. We hypothesize that the chromosome 2q23.1 region encompassing MBD5 is a dosage-dependent region, wherein deletion or duplication results in altered gene dosage. We previously established the 2q23.1 microdeletion syndrome and report herein 23 individuals with 2q23.1 duplications, thus establishing a complementary duplication syndrome. The observed phenotype includes ID, language impairments, infantile hypotonia and gross motor delay, behavioral problems, autistic features, dysmorphic facial features (pinnae anomalies, arched eyebrows, prominent nose, small chin, thin upper lip), and minor digital anomalies (fifth finger clinodactyly and large broad first toe). The microduplication size varies among all cases and ranges from 68 kb to 53.7 Mb, encompassing a region that includes MBD5, an important factor in methylation patterning and epigenetic regulation. We previously reported that haploinsufficiency of MBD5 is the primary causal factor in 2q23.1 microdeletion syndrome and that mutations in MBD5 are associated with autism. In this study, we demonstrate that MBD5 is the only gene in common among all duplication cases and that overexpression of MBD5 is likely responsible for the core clinical features present in 2q23.1 microduplication syndrome. Phenotypic analyses suggest that 2q23.1 duplication results in a slightly less severe phenotype than the reciprocal deletion. The features associated with a deletion, mutation or duplication of MBD5 and the gene expression changes observed support MBD5 as a dosage-sensitive gene critical for normal development.

  11. Variation of multiplicity and transverse energy flow with W2 and Q2 in deep inelastic scattering at HERA

    International Nuclear Information System (INIS)

    Lohmander, H.

    1995-04-01

    Charged particle and transverse energy flow for deep inelastic ep scattering at HERA have been investigated in the hadronic center of mass systems as a function of pseudorapidity η* in different W 2 and Q 2 intervals. In addition, the mean charged particle multiplicity ch > and the mean transverse energy * Τ > as a function of W 2 and Q 2 have been studied. The measurements were made in the kinematic region 85 2 2 . The ch > was found to increase with increasing W 2 at fixed Q 2 but did not show any significant dependence on Q 2 at fixed W 2 . The best description of the mean charged multiplicity is given by ch >=a+b·ln(W 2 /GeV 2 ) with a=-1.38±0.07 and b=0.93±0.05. The * Τ > increased both with increasing W 2 at fixed Q 2 and with increasing Q 2 at fixed W 2 . The mean transverse energy is described by * Τ >=a+b·ln(W 2 /GeV 2 )+c·ln (Q 2 /GeV 2 )GeV with a=-5.93±0.07, b=1.28±0.06 and c=0.69±0.02. Different QCD models have been compared with data. Only the Color Dipole Model, as implemented in the Monte Carlo program Ariadne, describes the data satisfactorily. 29 refs

  12. On Combining High and Low Q2 Information on the Polarized Parton Densities

    International Nuclear Information System (INIS)

    Leader, Elliot; Stamenov, Dimiter B.

    2000-01-01

    We draw attention to some problems in the combined use of high-Q 2 deep inelastic scattering (DIS) data and low-Q 2 hyperon β-decay data in the determination of the polarized parton densities. We explain why factorization schemes like the JET or AB schemes are the simplest in which to study the implications of the DIS parton densities for the physics of the low-Q 2 region. (author)

  13. Altered auditory processing and effective connectivity in 22q11.2 deletion syndrome.

    Science.gov (United States)

    Larsen, Kit Melissa; Mørup, Morten; Birknow, Michelle Rosgaard; Fischer, Elvira; Hulme, Oliver; Vangkilde, Anders; Schmock, Henriette; Baaré, William Frans Christiaan; Didriksen, Michael; Olsen, Line; Werge, Thomas; Siebner, Hartwig R; Garrido, Marta I

    2018-01-30

    22q11.2 deletion syndrome (22q11.2DS) is one of the most common copy number variants and confers a markedly increased risk for schizophrenia. As such, 22q11.2DS is a homogeneous genetic liability model which enables studies to delineate functional abnormalities that may precede disease onset. Mismatch negativity (MMN), a brain marker of change detection, is reduced in people with schizophrenia compared to healthy controls. Using dynamic causal modelling (DCM), previous studies showed that top-down effective connectivity linking the frontal and temporal cortex is reduced in schizophrenia relative to healthy controls in MMN tasks. In the search for early risk-markers for schizophrenia we investigated the neural basis of change detection in a group with 22q11.2DS. We recorded high-density EEG from 19 young non-psychotic 22q11.2 deletion carriers, as well as from 27 healthy non-carriers with comparable age distribution and sex ratio, while they listened to a sequence of sounds arranged in a roving oddball paradigm. Despite finding no significant reduction in the MMN responses, whole-scalp spatiotemporal analysis of responses to the tones revealed a greater fronto-temporal N1 component in the 22q11.2 deletion carriers. DCM showed reduced intrinsic connection within right primary auditory cortex as well as in the top-down, connection from the right inferior frontal gyrus to right superior temporal gyrus for 22q11.2 deletion carriers although not surviving correction for multiple comparison. We discuss these findings in terms of reduced adaptation and a general increased sensitivity to tones in 22q11.2DS. Copyright © 2018. Published by Elsevier B.V.

  14. Finite-Q22 Corrections to Parity-Violating DIS

    International Nuclear Information System (INIS)

    T. Hobbs; W. Melnitchouk

    2008-01-01

    Parity-violating deep inelastic scattering (PVDIS) has been proposed as an important new tool to extract the flavor and isospin dependence of parton distributions in the nucleon. We discuss finite-Q 2 effects in PVDIS asymmetries arising from subleading kinematical corrections and longitudinal contributions to the gamma Z interference. For the proton, these need to be accounted for when extracting the d/u ratio at large x. For the deuteron, the finite-Q 2 corrections can distort the effects of charge symmetry violation in parton distributions, or signals for physics beyond the standard model. We further explore the dependence of PVDIS asymmetries for polarized targets on the u and d helicity distributions at large x

  15. Refinement of the deletion in 8q22.2-q22.3: the minimum deletion size at 8q22.3 related to intellectual disability and epilepsy.

    Science.gov (United States)

    Kuroda, Yukiko; Ohashi, Ikuko; Saito, Toshiyuki; Nagai, Jun-ichi; Ida, Kazumi; Naruto, Takuya; Iai, Mizue; Kurosawa, Kenji

    2014-08-01

    Kuechler et al. [2011] reported five patients with interstitial deletions in 8q22.2-q22.3 who had intellectual disability, epilepsy, and dysmorphic features. We report on a new patient with the smallest overlapping de novo deletion in 8q22.3 and refined the phenotype. The proposita was an 8-year-old girl, who developed seizures at 10 months, and her epileptic seizure became severe and difficult to control with antiepileptic drugs. She also exhibited developmental delay and walked alone at 24 months. She was referred to us for evaluation for developmental delay and epilepsy at the age of 8 years. She had intellectual disability (IQ 37 at 7 years) and autistic behavior, and spoke two word sentences at 8 years. She had mild dysmorphic features, including telecanthus and thick vermilion of the lips. Array comparative genomic hybridization detected a 1.36 Mb deletion in 8q22.3 that encompassed RRM2B and NCALD, which encode the small subunit of p53-inducible ribonucleotide reductase and neurocalcin delta in the neuronal calcium sensor family of calcium-binding proteins, respectively. The minimum overlapping region between the present and previously reported patients is considered to be a critical region for the phenotype of the deletion in 8q22.3. We suggest that the deletion in 8q22.3 may represent a clinically recognizable condition, which is characterized by intellectual disability and epilepsy. © 2014 Wiley Periodicals, Inc.

  16. Precision measurement of the cross section of charged-current and neutral current processes at large Q2 at HERA with the polarized-electron beam

    International Nuclear Information System (INIS)

    Tran, Trong Hieu

    2010-03-01

    The inclusive cross sections for both charged and neutral current processes have been measured in interactions of longitudinally polarized electrons (positrons) with unpolarized protons using the full data samples collected by H1 at HERA-II. The data taken at a center-of-mass energy of 319 GeV correspond to an integrated luminosity of 149.1 pb -1 and 180.0 pb -1 for e - p and e + p collisions, representing an increase in statistics of a factor of 10 and 2, respectively, over the data from HERA-I. The measured double differential cross sections d 2 σ/dxdQ 2 cover more than two orders of magnitude in both Q 2 , the negative four-momentum transfer squared, up to 30000 GeV 2 , and Bjorken x, down to 0.003. The cross section data are compared to predictions of the Standard Model which is able to provide a good description of the data. The polarization asymmetry as a function of Q 2 is measured with improved precision, confirming the previous observation of P violation effect in neutral current ep scattering at distances down to 10 -18 m. The total cross sections of the charged current process, for Q 2 > 400 GeV 2 and inelasticity y ± beams and different polarization values. Together with the corresponding cross section obtained from the previously published unpolarized data, the polarization dependence of the charged current cross section is measured and found to be in agreement with the Standard Model prediction with the absence of right-handed charged current. The cross sections are combined with previously published data from H1 to obtain the most precise unpolarized measurements. These are used to extract the structure function xF 3 γZ which is sensitive to the valence quark distributions down to low x values. The new cross sections have also been used in a combined electroweak and QCD fit to significantly improve the light quark couplings to the Z-boson than those obtained based on the HERA-I data alone. (orig.)

  17. Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders.

    Science.gov (United States)

    Lattante, Serena; Millecamps, Stéphanie; Stevanin, Giovanni; Rivaud-Péchoux, Sophie; Moigneu, Carine; Camuzat, Agnès; Da Barroca, Sandra; Mundwiller, Emeline; Couarch, Philippe; Salachas, François; Hannequin, Didier; Meininger, Vincent; Pasquier, Florence; Seilhean, Danielle; Couratier, Philippe; Danel-Brunaud, Véronique; Bonnet, Anne-Marie; Tranchant, Christine; LeGuern, Eric; Brice, Alexis; Le Ber, Isabelle; Kabashi, Edor

    2014-09-09

    The aim of this study was to establish the frequency of ATXN2 polyglutamine (polyQ) expansion in large cohorts of patients with amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and progressive supranuclear palsy (PSP), and to evaluate whether ATXN2 could act as a modifier gene in patients carrying the C9orf72 expansion. We screened a large cohort of French patients (1,144 ALS, 203 FTD, 168 FTD-ALS, and 109 PSP) for ATXN2 CAG repeat length. We included in our cohort 322 carriers of the C9orf72 expansion (202 ALS, 63 FTD, and 57 FTD-ALS). We found a significant association with intermediate repeat size (≥29 CAG) in patients with ALS (both familial and sporadic) and, for the first time, in patients with familial FTD-ALS. Of interest, we found the co-occurrence of pathogenic C9orf72 expansion in 23.2% of ATXN2 intermediate-repeat carriers, all in the FTD-ALS and familial ALS subgroups. In the cohort of C9orf72 carriers, 3.1% of patients also carried an intermediate ATXN2 repeat length. ATXN2 repeat lengths in patients with PSP and FTD were found to be similar to the controls. ATXN2 intermediary repeat length is a strong risk factor for ALS and FTD-ALS. Furthermore, we propose that ATXN2 polyQ expansions could act as a strong modifier of the FTD phenotype in the presence of a C9orf72 repeat expansion, leading to the development of clinical signs featuring both FTD and ALS. © 2014 American Academy of Neurology.

  18. Case report of newborn with de novo partial trisomy 2q31.2–37.3 ...

    Indian Academy of Sciences (India)

    Case report of newborn with de novo partial trisomy 2q31.2–37.3 and monosomy 9p24.3 ... This is the first report of molecular cytogenetic characterization of a partial trisomy 2q31.2–37.3 with monosomy 9p24.3. ... Manuscript received: 10 November 2016; Manuscript revised: 13 March 2017; Accepted: 21 March 2017 ...

  19. Measurement of the Q^{2} Dependence of the Deuteron Spin Structure Function g_{1} and its Moments at Low Q^{2} with CLAS.

    Science.gov (United States)

    Adhikari, K P; Deur, A; El Fassi, L; Kang, H; Kuhn, S E; Ripani, M; Slifer, K; Zheng, X; Adhikari, S; Akbar, Z; Amaryan, M J; Avakian, H; Ball, J; Balossino, I; Barion, L; Battaglieri, M; Bedlinskiy, I; Biselli, A S; Bosted, P; Briscoe, W J; Brock, J; Bültmann, S; Burkert, V D; Thanh Cao, F; Carlin, C; Carman, D S; Celentano, A; Charles, G; Chen, J-P; Chetry, T; Choi, S; Ciullo, G; Clark, L; Cole, P L; Contalbrigo, M; Crede, V; D'Angelo, A; Dashyan, N; De Vita, R; De Sanctis, E; Defurne, M; Djalali, C; Dodge, G E; Drozdov, V; Dupre, R; Egiyan, H; El Alaoui, A; Elouadrhiri, L; Eugenio, P; Fedotov, G; Filippi, A; Ghandilyan, Y; Gilfoyle, G P; Golovatch, E; Gothe, R W; Griffioen, K A; Guidal, M; Guler, N; Guo, L; Hafidi, K; Hakobyan, H; Hanretty, C; Harrison, N; Hattawy, M; Heddle, D; Hicks, K; Holtrop, M; Hyde, C E; Ilieva, Y; Ireland, D G; Isupov, E L; Jenkins, D; Jo, H S; Johnston, S C; Joo, K; Joosten, S; Kabir, M L; Keith, C D; Keller, D; Khachatryan, G; Khachatryan, M; Khandaker, M; Kim, W; Klein, A; Klein, F J; Konczykowski, P; Kovacs, K; Kubarovsky, V; Lanza, L; Lenisa, P; Livingston, K; Long, E; MacGregor, I J D; Markov, N; Mayer, M; McKinnon, B; Meekins, D G; Meyer, C A; Mineeva, T; Mirazita, M; Mokeev, V; Movsisyan, A; Munoz Camacho, C; Nadel-Turonski, P; Niculescu, G; Niccolai, S; Osipenko, M; Ostrovidov, A I; Paolone, M; Pappalardo, L; Paremuzyan, R; Park, K; Pasyuk, E; Payette, D; Phelps, W; Phillips, S K; Pierce, J; Pogorelko, O; Poudel, J; Price, J W; Prok, Y; Protopopescu, D; Raue, B A; Rizzo, A; Rosner, G; Rossi, P; Sabatié, F; Salgado, C; Schumacher, R A; Sharabian, Y G; Shigeyuki, T; Simonyan, A; Skorodumina, Iu; Smith, G D; Sparveris, N; Sokhan, D; Stepanyan, S; Strakovsky, I I; Strauch, S; Sulkosky, V; Taiuti, M; Tan, J A; Ungaro, M; Voutier, E; Wei, X; Weinstein, L B; Zhang, J; Zhao, Z W

    2018-02-09

    We measured the g_{1} spin structure function of the deuteron at low Q^{2}, where QCD can be approximated with chiral perturbation theory (χPT). The data cover the resonance region, up to an invariant mass of W≈1.9  GeV. The generalized Gerasimov-Drell-Hearn sum, the moment Γ_{1}^{d} and the spin polarizability γ_{0}^{d} are precisely determined down to a minimum Q^{2} of 0.02  GeV^{2} for the first time, about 2.5 times lower than that of previous data. We compare them to several χPT calculations and models. These results are the first in a program of benchmark measurements of polarization observables in the χPT domain.

  20. Attention Deficit Hyperactivity Disorder Symptoms and Psychosis in 22q11.2 Deletion Syndrome.

    Science.gov (United States)

    Niarchou, Maria; Calkins, Monica E; Moore, Tyler M; Tang, Sunny X; McDonald-McGinn, Donna M; Zackai, Elaine H; Emanuel, Beverly S; Gur, Ruben C; Gur, Raquel E

    2017-10-10

    22q11.2 Deletion Syndrome (22q11.2DS) is associated with increased risk for schizophrenia in adulthood while Attention Deficit Hyperactivity Disorder (ADHD) is the most prevalent diagnosis in childhood. Inattention symptoms are pronounced in 22q11.2DS and given that attentional impairment is a core feature of schizophrenia, inattention symptoms may reflect underlying ADHD, psychosis, or both. We investigate whether inattention is associated with psychosis in 22q11.2DS and in other groups at risk for psychosis but without the deletion (ND) (idiopathic clinical risk and first degree family members of individuals with schizophrenia). One hundred thirty-seven individuals with 22q11.2DS (mean age: 14.0), 84 ND individuals with subthreshold psychosis (mean age: 16.9) and 31 ND individuals with family history of psychosis (mean age: 17.0) were included in the study. Psychopathology was assessed using research diagnostic assessments. ADHD total symptoms were associated with overall levels of subthreshold psychosis symptoms in 22q11.2DS (β = .8, P = .04). Inattention symptoms were specifically associated with positive (β = .5, P = .004), negative (β = .5, P = .03), and disorganized (β = .5, P hyperactivity-impulsivity symptoms were associated with disorganized symptoms (β = .5, P = .01). The prevalence of ADHD inattention symptoms was higher in 22q11.2DS with subthreshold psychosis compared to ND individuals with subthreshold psychosis (P < .001), even when adjusting for cognitive impairment and overall psychopathology. The pattern was similar when comparing individuals with 22q11.2DS and ND individuals with family history of psychosis. This is the first study to examine the associations between ADHD symptoms and psychosis in 22q11.2DS. Our findings support a potentially important role of ADHD inattention symptoms in psychosis in 22q11.2DS. © The Author 2017. Published by Oxford University Press on behalf of the Maryland Psychiatric Research Center. All rights

  1. Charged Particle Production in High Q2 Deep-Inelastic Scattering at HERA

    CERN Document Server

    Aaron, F.D.; Alexa, C.; Andreev, V.; Antunovic, B.; Aplin, S.; Asmone, A.; Astvatsatourov, A.; Backovic, S.; Baghdasaryan, A.; Baranov, P.; Barrelet, E.; Bartel, W.; Baudrand, S.; Beckingham, M.; Begzsuren, K.; Behnke, O.; Behrendt, O.; Belousov, A.; Berger, N.; Bizot, J.C.; Boenig, M.-O.; Boudry, V.; Bozovic-Jelisavcic, I.; Bracinik, J.; Brandt, G.; Brinkmann, M.; Brisson, V.; Bruncko, D.; Busser, F.W.; Bunyatyan, A.; Buschhorn, G.; Bystritskaya, L.; Campbell, A.J.; Cantun Avila, K.B.; Cassol-Brunner, F.; Cerny, K.; Cerny, V.; Chekelian, V.; Cholewa, A.; Contreras, J.G.; Coughlan, J.A.; Cozzika, G.; Cvach, J.; Dainton, J.B.; Daum, K.; Deak, M.; de Boer, Y.; Delcourt, B.; Del Degan, M.; Delvax, J.; De Roeck, A.; De Wolf, E.A.; Diaconu, C.; Dodonov, V.; Dubak, A.; Eckerlin, Guenter; Efremenko, V.; Egli, S.; Eichler, R.; Eisele, F.; Eliseev, A.; Elsen, E.; Essenov, S.; Falkiewicz, A.; Faulkner, P.J.W.; Favart, L.; Fedotov, A.; Felst, R.; Feltesse, J.; Ferencei, J.; Finke, L.; Fleischer, M.; Fomenko, A.; Franke, G.; Frisson, T.; Gabathuler, E.; Gayler, J.; Ghazaryan, Samvel; Ginzburgskaya, S.; Glazov, A.; Glushkov, I.; Goerlich, L.; Goettlich, M.; Gogitidze, N.; Gorbounov, S.; Gouzevitch, M.; Grab, C.; Greenshaw, T.; Grell, B.R.; Grindhammer, G.; Habib, S.; Haidt, D.; Hansson, M.; Heinzelmann, G.; Helebrant, C.; Henderson, R.C.W.; Henschel, H.; Herrera, G.; Hildebrandt, M.; Hiller, K.H.; Hoffmann, D.; Horisberger, R.; Hovhannisyan, A.; Hreus, T.; Jacquet, M.; Janssen, M.E.; Janssen, X.; Jemanov, V.; Jonsson, L.; Johnson, D.P.; Jung, Andreas Werner; Jung, H.; Kapichine, M.; Katzy, J.; Kenyon, I.R.; Kiesling, Christian M.; Klein, M.; Kleinwort, C.; Klimkovich, T.; Kluge, T.; Knutsson, A.; Korbel, V.; Kostka, P.; Kraemer, M.; Krastev, K.; Kretzschmar, J.; Kropivnitskaya, A.; Kruger, K.; Landon, M.P.J.; Lange, W.; Lastovicka-Medin, G.; Laycock, P.; Lebedev, A.; Leibenguth, G.; Lendermann, V.; Levonian, S.; Li, G.; Lindfeld, L.; Lipka, K.; Liptaj, A.; List, B.; List, J.; Loktionova, N.; Lopez-Fernandez, R.; Lubimov, V.; Lucaci-Timoce, A.-I.; Lytkin, L.; Makankine, A.; Malinovski, E.; Marage, P.; Marti, Ll.; Martisikova, M.; Martyn, H.-U.; Maxfield, S.J.; Mehta, A.; Meier, K.; Meyer, A.B.; Meyer, H.; Meyer, J.; Michels, V.; Mikocki, S.; Milcewicz-Mika, I.; Mohamed, A.; Moreau, F.; Morozov, A.; Morris, J.V.; Mozer, Matthias Ulrich; Muller, K.; Murin, P.; Nankov, K.; Naroska, B.; Naumann, Th.; Newman, Paul R.; Niebuhr, C.; Nikiforov, A.; Nowak, G.; Nowak, K.; Nozicka, M.; Oganezov, R.; Olivier, B.; Olsson, J.E.; Osman, S.; Ozerov, D.; Palichik, V.; Panagoulias, I.; Pandurovic, M.; Papadopoulou, Th.; Pascaud, C.; Patel, G.D.; Peng, H.; Perez, E.; Perez-Astudillo, D.; Perieanu, A.; Petrukhin, A.; Picuric, I.; Piec, S.; Pitzl, D.; Placakyte, R.; Polifka, R.; Povh, B.; Preda, T.; Prideaux, P.; Radescu, V.; Rahmat, A.J.; Raicevic, N.; Ravdandorj, T.; Reimer, P.; Risler, C.; Rizvi, E.; Robmann, P.; Roland, B.; Roosen, R.; Rostovtsev, A.; Rurikova, Z.; Rusakov, S.; Salek, D.; Salvaire, F.; Sankey, D.P.C.; Sauter, M.; Sauvan, E.; Schmidt, S.; Schmitt, S.; Schmitz, C.; Schoeffel, L.; Schoning, A.; Schultz-Coulon, H.-C.; Sefkow, F.; Shaw-West, R.N.; Sheviakov, I.; Shtarkov, L.N.; Sloan, T.; Smiljanic, Ivan; Smirnov, P.; Soloviev, Y.; South, D.; Spaskov, V.; Specka, Arnd E.; Staykova, Z.; Steder, M.; Stella, B.; Stiewe, J.; Straumann, U.; Sunar, D.; Sykora, T.; Tchoulakov, V.; Thompson, G.; Thompson, P.D.; Toll, T.; Tomasz, F.; Tran, T.H.; Traynor, D.; Trinh, T.N.; Truol, P.; Tsakov, I.; Tseepeldorj, B.; Tsipolitis, G.; Tsurin, I.; Turnau, J.; Tzamariudaki, E.; Urban, K.; Utkin, D.; Valkarova, A.; Vallee, C.; Van Mechelen, P.; Vargas Trevino, A.; Vazdik, Y.; Vinokurova, S.; Volchinski, V.; Weber, G.; Weber, R.; Wegener, D.; Werner, C.; Wessels, M.; Wissing, Ch.; Wolf, R.; Wunsch, E.; Xella, S.; Yeganov, V.; Zacek, J.; Zalesak, J.; Zhang, Z.; Zhelezov, A.; Zhokin, A.; Zhu, Y.C.; Zimmermann, T.; Zohrabyan, H.; Zomer, F.

    2007-01-01

    The average charged track multiplicity and the normalised distribution of the scaled momentum, $\\xp$, of charged final state hadrons are measured in deep-inelastic $\\ep$ scattering at high $Q^2$ in the Breit frame of reference. The analysis covers the range of photon virtuality $100 < Q^2 < 20 000 \\GeV^{2}$. Compared with previous results presented by HERA experiments this analysis has a significantly higher statistical precision and extends the phase space to higher $Q^{2}$ and to the full range of $\\xp$. The results are compared with $e^+e^-$ annihilation data and with various calculations based on perturbative QCD using different models of the hadronisation process.

  2. Charged particle production in high Q2 deep-inelastic scattering at HERA

    Science.gov (United States)

    Aaron, F. D.; Aktas, A.; Alexa, C.; Andreev, V.; Antunovic, B.; Aplin, S.; Asmone, A.; Astvatsatourov, A.; Backovic, S.; Baghdasaryan, A.; Baranov, P.; Barrelet, E.; Bartel, W.; Baudrand, S.; Beckingham, M.; Begzsuren, K.; Behnke, O.; Behrendt, O.; Belousov, A.; Berger, N.; Bizot, J. C.; Boenig, M.-O.; Boudry, V.; Bozovic-Jelisavcic, I.; Bracinik, J.; Brandt, G.; Brinkmann, M.; Brisson, V.; Bruncko, D.; Büsser, F. W.; Bunyatyan, A.; Buschhorn, G.; Bystritskaya, L.; Campbell, A. J.; Avila, K. B. Cantun; Cassol-Brunner, F.; Cerny, K.; Cerny, V.; Chekelian, V.; Cholewa, A.; Contreras, J. G.; Coughlan, J. A.; Cozzika, G.; Cvach, J.; Dainton, J. B.; Daum, K.; Deak, M.; de Boer, Y.; Delcourt, B.; Del Degan, M.; Delvax, J.; De Roeck, A.; De Wolf, E. A.; Diaconu, C.; Dodonov, V.; Dubak, A.; Eckerlin, G.; Efremenko, V.; Egli, S.; Eichler, R.; Eisele, F.; Eliseev, A.; Elsen, E.; Essenov, S.; Falkiewicz, A.; Faulkner, P. J. W.; Favart, L.; Fedotov, A.; Felst, R.; Feltesse, J.; Ferencei, J.; Finke, L.; Fleischer, M.; Fomenko, A.; Franke, G.; Frisson, T.; Gabathuler, E.; Gayler, J.; Ghazaryan, S.; Ginzburgskaya, S.; Glazov, A.; Glushkov, I.; Goerlich, L.; Goettlich, M.; Gogitidze, N.; Gorbounov, S.; Gouzevitch, M.; Grab, C.; Greenshaw, T.; Gregori, M.; Grell, B. R.; Grindhammer, G.; Habib, S.; Haidt, D.; Hansson, M.; Heinzelmann, G.; Helebrant, C.; Henderson, R. C. W.; Henschel, H.; Herrera, G.; Hildebrandt, M.; Hiller, K. H.; Hoffmann, D.; Horisberger, R.; Hovhannisyan, A.; Hreus, T.; Jacquet, M.; Janssen, M. E.; Janssen, X.; Jemanov, V.; Jönsson, L.; Johnson, D. P.; Jung, A. W.; Jung, H.; Kapichine, M.; Katzy, J.; Kenyon, I. R.; Kiesling, C.; Klein, M.; Kleinwort, C.; Klimkovich, T.; Kluge, T.; Knutsson, A.; Korbel, V.; Kostka, P.; Kraemer, M.; Krastev, K.; Kretzschmar, J.; Kropivnitskaya, A.; Krüger, K.; Landon, M. P. J.; Lange, W.; Laštovička-Medin, G.; Laycock, P.; Lebedev, A.; Leibenguth, G.; Lendermann, V.; Levonian, S.; Li, G.; Lindfeld, L.; Lipka, K.; Liptaj, A.; List, B.; List, J.; Loktionova, N.; Lopez-Fernandez, R.; Lubimov, V.; Lucaci-Timoce, A.-I.; Lytkin, L.; Makankine, A.; Malinovski, E.; Marage, P.; Marti, Ll.; Martisikova, M.; Martyn, H.-U.; Maxfield, S. J.; Mehta, A.; Meier, K.; Meyer, A. B.; Meyer, H.; Meyer, H.; Meyer, J.; Michels, V.; Mikocki, S.; Milcewicz-Mika, I.; Mohamed, A.; Moreau, F.; Morozov, A.; Morris, J. V.; Mozer, M. U.; Müller, K.; Murín, P.; Nankov, K.; Naroska, B.; Naumann, Th.; Newman, P. R.; Niebuhr, C.; Nikiforov, A.; Nowak, G.; Nowak, K.; Nozicka, M.; Oganezov, R.; Olivier, B.; Olsson, J. E.; Osman, S.; Ozerov, D.; Palichik, V.; Panagoulias, I.; Pandurovic, M.; Papadopoulou, Th.; Pascaud, C.; Patel, G. D.; Peng, H.; Perez, E.; Perez-Astudillo, D.; Perieanu, A.; Petrukhin, A.; Picuric, I.; Piec, S.; Pitzl, D.; Plačakytė, R.; Polifka, R.; Povh, B.; Preda, T.; Prideaux, P.; Radescu, V.; Rahmat, A. J.; Raicevic, N.; Ravdandorj, T.; Reimer, P.; Risler, C.; Rizvi, E.; Robmann, P.; Roland, B.; Roosen, R.; Rostovtsev, A.; Rurikova, Z.; Rusakov, S.; Salek, D.; Salvaire, F.; Sankey, D. P. C.; Sauter, M.; Sauvan, E.; Schmidt, S.; Schmitt, S.; Schmitz, C.; Schoeffel, L.; Schöning, A.; Schultz-Coulon, H.-C.; Sefkow, F.; Shaw-West, R. N.; Sheviakov, I.; Shtarkov, L. N.; Sloan, T.; Smiljanic, I.; Smirnov, P.; Soloviev, Y.; South, D.; Spaskov, V.; Specka, A.; Staykova, Z.; Steder, M.; Stella, B.; Stiewe, J.; Straumann, U.; Sunar, D.; Sykora, T.; Tchoulakov, V.; Thompson, G.; Thompson, P. D.; Toll, T.; Tomasz, F.; Tran, T. H.; Traynor, D.; Trinh, T. N.; Truöl, P.; Tsakov, I.; Tseepeldorj, B.; Tsipolitis, G.; Tsurin, I.; Turnau, J.; Tzamariudaki, E.; Urban, K.; Utkin, D.; Valkárová, A.; Vallée, C.; Van Mechelen, P.; Trevino, A. Vargas; Vazdik, Y.; Vinokurova, S.; Volchinski, V.; Weber, G.; Weber, R.; Wegener, D.; Werner, C.; Wessels, M.; Wissing, Ch.; Wolf, R.; Wünsch, E.; Xella, S.; Yeganov, V.; Žáček, J.; Zálešák, J.; Zhang, Z.; Zhelezov, A.; Zhokin, A.; Zhu, Y. C.; Zimmermann, T.; Zohrabyan, H.; Zomer, F.; H1 Collaboration

    2007-10-01

    The average charged track multiplicity and the normalised distribution of the scaled momentum, xp, of charged final state hadrons are measured in deep-inelastic ep scattering at high Q2 in the Breit frame of reference. The analysis covers the range of photon virtuality 100 <Q2 < 20 000 GeV2. Compared with previous results presented by HERA experiments this analysis has a significantly higher statistical precision and extends the phase space to higher Q2 and to the full range of xp. The results are compared with e+e- annihilation data and with various calculations based on perturbative QCD using different models of the hadronisation process.

  3. Children with Chromosome 22q11.2 Deletion Syndrome Exhibit Impaired Spatial Working Memory

    Science.gov (United States)

    Wong, Ling M.; Riggins, Tracy; Harvey, Danielle; Cabaral, Margarita; Simon, Tony J.

    2014-01-01

    Individuals with chromosome 22q11.2 deletion syndrome (22q11.2DS) have been shown to have impairments in processing spatiotemporal information. The authors examined whether children with 22q11.2DS exhibit impairments in spatial working memory performance due to these weaknesses, even when controlling for maintenance of attention. Children with…

  4. A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities

    Directory of Open Access Journals (Sweden)

    Shalinder Singh

    2012-01-01

    Full Text Available Insertional translocations in which a duplicated region of one chromosome is inserted into another chromosome are very rare. We report a 16.5-year-old girl with a terminal duplication at 9q34.3 of paternal origin inserted into 19q13.4. Chromosomal analysis revealed the karyotype 46,XX,der(19ins(19;9(q13.4;q34.3q34.3pat. Cytogenetic microarray analysis (CMA identified a ~2.3Mb duplication of 9q, which was confirmed by Fluorescence in situ hybridisation (FISH. The duplication at 9q34.3 is the smallest among the cases reported so far. The proband exhibits similar clinical features to those previously reported cases with larger duplication events.

  5. Measuring molecular abundances in comet C/2014 Q2 (Lovejoy) using the APEX telescope

    Science.gov (United States)

    de Val-Borro, M.; Milam, S. N.; Cordiner, M. A.; Charnley, S. B.; Coulson, I. M.; Remijan, A. J.; Villanueva, G. L.

    2018-02-01

    Comet composition provides critical information on the chemical and physical processes that took place during the formation of the Solar system. We report here on millimetre spectroscopic observations of the long-period bright comet C/2014 Q2 (Lovejoy) using the Atacama Pathfinder Experiment (APEX) band 1 receiver between 2015 January UT 16.948 and 18.120, when the comet was at heliocentric distance of 1.30 au and geocentric distance of 0.53 au. Bright comets allow for sensitive observations of gaseous volatiles that sublimate in their coma. These observations allowed us to detect HCN, CH3OH (multiple transitions), H2CO and CO, and to measure precise molecular production rates. Additionally, sensitive upper limits were derived on the complex molecules acetaldehyde (CH3CHO) and formamide (NH2CHO) based on the average of the strongest lines in the targeted spectral range to improve the signal-to-noise ratio. Gas production rates are derived using a non-LTE molecular excitation calculation involving collisions with H2O and radiative pumping that becomes important in the outer coma due to solar radiation. We find a depletion of CO in C/2014 Q2 (Lovejoy) with a production rate relative to water of 2.0 per cent, and relatively low abundances of Q(HCN)/Q(H2O), 0.1 per cent, and Q(H2CO)/Q(H2O), 0.2 per cent. In contrast, the CH3OH relative abundance Q(CH3OH)/Q(H2O), 2.2 per cent, is close to the mean value observed in other comets. The measured production rates are consistent with values derived for this object from other facilities at similar wavelengths taking into account the difference in the fields of view. Based on the observed mixing ratios of organic molecules in four bright comets including C/2014 Q2, we find some support for atom addition reactions on cold dust being the origin of some of the molecules.

  6. Ocular Findings in Children With 22q11.2 Deletion Syndrome.

    Science.gov (United States)

    Gokturk, Bahar; Topcu-Yilmaz, Pinar; Bozkurt, Banu; Yildirim, Mahmut Selman; Guner, Sukru Nail; Sayar, Esra Hazar; Reisli, Ismail

    2016-07-01

    To identify the ocular features of children diagnosed as having 22q11.2 deletion syndrome in a Turkish population, which is the most common microdeletion syndrome with a wide range of facial and ocular abnormalities. Sixteen children aged between 4 months and 18 years with a microdeletion in chromosome 22q11.2 underwent a detailed ophthalmological examination including uncorrected and best corrected visual acuity testing, stereoscopic vision examination, biomicroscopic and indirect fundus examination, and ocular motility testing. All patients had at least one ocular abnormality. The major abnormalities were eyelid abnormalities (eye hooding, narrow palpebral fissure, telecanthus, hypertelorism, sparse and thin eyebrows and eyelashes, blepharitis, and distichiasis), posterior embryotoxon, and tortuous retinal vessels in at least half of the patients. Other ophthalmological disorders were refractive errors, iris remnants, and strabismus. The chromosome 22q11.2 deletion syndrome is associated with a wide range of ocular disorders, which necessitates a comprehensive eye examination for appropriate treatment and follow-up. Ocular findings sometimes can provide a clue to the diagnosis of 22q11.2 deletion. [J Pediatr Ophthalmol Strabismus. 2016;53(4):218-222]. Copyright 2016, SLACK Incorporated.

  7. Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements

    NARCIS (Netherlands)

    Demaerel, Wolfram; Hestand, Matthew S.; Vergaelen, Elfi; Swillen, Ann; López-Sánchez, Marcos; Pérez-Jurado, Luis A.; McDonald-Mcginn, Donna M.; Zackai, Elaine; Emanuel, Beverly S.; Morrow, Bernice E.; Breckpot, Jeroen; Devriendt, Koenraad; Vermeesch, Joris R.; Antshel, Kevin M.; Arango, Celso; Armando, Marco; Bassett, Anne S.; Bearden, Carrie E.; Boot, Erik; Bravo-Sanchez, Marta; Breetvelt, Elemi; Busa, Tiffany; Butcher, Nancy J.; Campbell, Linda E.; Carmel, Miri; Chow, Eva W C; Crowley, T. Blaine; Cubells, Joseph; Cutler, David; Demaerel, Wolfram; Digilio, Maria Cristina; Duijff, Sasja; Eliez, Stephan; Emanuel, Beverly S.; Epstein, Michael P.; Evers, Rens; Fernandez Garcia-Moya, Luis; Fiksinski, Ania; Fraguas, David; Fremont, Wanda; Fritsch, Rosemarie; Garcia-Minaur, Sixto; Golden, Aaron; Gothelf, Doron; Guo, Tingwei; Gur, Ruben C.; Gur, Raquel E.; Heine-Suner, Damian; Hestand, Matthew; Hooper, Stephen R.; Kates, Wendy R.; Kushan, Leila; Laorden-Nieto, Alejandra; Maeder, Johanna; Marino, Bruno; Marshall, Christian R.; McCabe, Kathryn; McDonald-Mcginn, Donna M.; Michaelovosky, Elena; Morrow, Bernice E.; Moss, Edward; Mulle, Jennifer; Murphy, Declan; Murphy, Kieran C.; Murphy, Clodagh M.; Niarchou, Maria; Ornstein, Claudia; Owen, Michael J; Philip, Nicole; Repetto, Gabriela M.; Schneider, Maude; Shashi, Vandana; Simon, Tony J.; Swillen, Ann; Tassone, Flora; Unolt, Marta; Van Amelsvoort, Therese; van den Bree, Marianne B M; Van Duin, Esther; Vergaelen, Elfi; Vermeesch, Joris R.; Vicari, Stefano; Vingerhoets, Claudia; Vorstman, Jacob; Warren, Steve; Weinberger, Ronnie; Weisman, Omri; Weizman, Abraham; Zackai, Elaine; Zhang, Zhengdong; Zwick, Michael

    2017-01-01

    Inversion polymorphisms between low-copy repeats (LCRs) might predispose chromosomes to meiotic non-allelic homologous recombination (NAHR) events and thus lead to genomic disorders. However, for the 22q11.2 deletion syndrome (22q11.2DS), the most common genomic disorder, no such inversions have

  8. Early onset intellectual disability in chromosome 22q11.2 deletion syndrome.

    Science.gov (United States)

    Cascella, Marco; Muzio, Maria Rosaria

    2015-01-01

    Chromosome 22q11.2 deletion syndrome, or DiGeorge syndrome, or velocardiofacial syndrome, is one of the most common multiple anomaly syndromes in humans. This syndrome is commonly caused by a microdelection from chromosome 22 at band q11.2. Although this genetic disorder may reflect several clinical abnormalities and different degrees of organ commitment, the clinical features that have driven the greatest amount of attention are behavioral and developmental features, because individuals with 22q11.2 deletion syndrome have a 30-fold risk of developing schizophrenia. There are differing opinions about the cognitive development, and commonly a cognitive decline rather than an early onset intellectual disability has been observed. We report a case of 22q11.2 deletion syndrome with both early assessment of mild intellectual disabilities and tetralogy of Fallot as the only physic manifestation. Copyright © 2015 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  9. A set of sums for continuous dual q-2-Hahn polynomials

    International Nuclear Information System (INIS)

    Gade, R. M.

    2009-01-01

    An infinite set {τ (l) (y;r,z)} r,lisanelementofN 0 of linear sums of continuous dual q -2 -Hahn polynomials with prefactors depending on a complex parameter z is studied. The sums τ (l) (y;r,z) have an interpretation in context with tensor product representations of the quantum affine algebra U q ' (sl(2)) involving both a positive and a negative discrete series representation. For each l>0, the sum τ (l) (y;r,z) can be expressed in terms of the sum τ (0) (y;r,z), continuous dual q 2 -Hahn polynomials, and their associated polynomials. The sum τ (0) (y;r,z) is obtained as a combination of eight basic hypergeometric series. Moreover, an integral representation is provided for the sums τ (l) (y;r,z) with the complex parameter restricted by |zq| -2 -Hahn polynomials.

  10. Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

    DEFF Research Database (Denmark)

    Cingöz, Sultan; Bache, Iben; Bjerglund, Lise

    2011-01-01

    Distal interstitial deletions of chromosome 14 involving the 14q24-q23.2 region are rare, and only been reported so far in 20 patients. Ten of these patients were analyzed both clinically and genetically. Here we present a de novo interstitial deletion of chromosome 14q24.3-q32.2 in a male patient...... on genotype-phenotype comparisons of the 10 previously published patients and the present case, we suggest that the shortest regions for deletion overlap may include candidate genes for speech impairment, mental retardation, and hypotonia....

  11. Visual processing deficits in 22q11.2 Deletion Syndrome

    Directory of Open Access Journals (Sweden)

    Marjan Biria

    2018-01-01

    The reduced activity of ventral and dorsal visual areas during early stages points to an impairment in visual processing seen both in schizophrenia and 22q11.2DS. During intervals related to perceptual closure, the inverse correlation of high amplitudes with positive symptoms suggests that participants with 22q11.2DS who show an increased brain response to illusory contours during the relevant window for contour processing have less psychotic symptoms and might thus be at a reduced prodromal risk for schizophrenia.

  12. Properties of ΣQ*, ΞQ* and ΩQ* heavy baryons in cold nuclear matter

    Science.gov (United States)

    Azizi, K.; Er, N.

    2018-02-01

    The in-medium properties of the heavy spin-3/2 ΣQ*, ΞQ* and ΩQ* baryons with Q being b or c quark are investigated. The shifts in some spectroscopic parameters of these particles due to the saturated cold nuclear matter are calculated. The variations of those parameters with respect to the changes in the density of the cold nuclear medium are studied, as well. It is observed that the parameters of ΣQ* baryons are considerably affected by the nuclear matter compared to the ΞQ* and ΩQ* particles that roughly do not see the medium. The results obtained may be used in analyses of the data to be provided by the in-medium experiments like PANDA.

  13. Synthesis and characterization of a new photoluminescent aluminium complex bis (8-hydroxyquinoline) (2,2'bipyridine) aluminium Al(Bpy)q2

    Science.gov (United States)

    Kumar, Rahul; Bhargava, Parag

    2018-04-01

    A new photoluminescent material, Bis(8-hydroxyquinoline) (2,2'bipyridine) aluminium Al(Bpy)q2 has been synthesized and characterized. Solution of this material Al(Bpy)q2 in ethanol showed absorption maxima at 370nm which was attributed to the moderate energy (π - π*) transitions of the aromatic rings. The photoluminescence spectrum of Al(Bpy)q2 in ethanol solution showed peak at 516 nm. This material shows thermal stability up to 385°C. The time resolved photoluminescence spectra of the material showed two life time components. The decay times of the first and second component are 6.1 ns and 24.5 ns respectively.

  14. Examining the Overlap between Autism Spectrum Disorder and 22q11.2 Deletion Syndrome.

    Science.gov (United States)

    Ousley, Opal; Evans, A Nichole; Fernandez-Carriba, Samuel; Smearman, Erica L; Rockers, Kimberly; Morrier, Michael J; Evans, David W; Coleman, Karlene; Cubells, Joseph

    2017-05-18

    22q11.2 deletion syndrome (22q11.2DS) is a genomic disorder reported to associate with autism spectrum disorders (ASDs) in 15-50% of cases; however, others suggest that individuals with 22q11.2DS present psychiatric or behavioral features associated with ASDs, but do not meet full criteria for ASD diagnoses. Such wide variability in findings may arise in part due to methodological differences across studies. Our study sought to determine whether individuals with 22q11.2DS meet strict ASD diagnostic criteria using research-based guidelines from the Collaborative Programs of Excellence in Autism (CPEA), which required a gathering of information from three sources: the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observational Schedule (ADOS), and a clinician's best-estimate diagnosis. Our study examined a cohort of children, adolescents, and young adults ( n = 56) with 22q11.2DS, who were ascertained irrespective of parents' behavioral or developmental concerns, and found that 17.9% ( n = 10) of the participants met CPEA criteria for an ASD diagnosis, and that a majority showed some level of social-communication impairment or the presence of repetitive behaviors. We conclude that strictly defined ASDs occur in a substantial proportion of individuals with 22q11.2DS, and recommend that all individuals with 22q11.2DS be screened for ASDs during early childhood.

  15. Measurement of the generalized form factors near threshold via γ*p→nπ+ at high Q2

    Science.gov (United States)

    Park, K.; Gothe, R. W.; Adhikari, K. P.; Adikaram, D.; Anghinolfi, M.; Baghdasaryan, H.; Ball, J.; Battaglieri, M.; Batourine, V.; Bedlinskiy, I.; Bennett, R. P.; Biselli, A. S.; Bookwalter, C.; Boiarinov, S.; Branford, D.; Briscoe, W. J.; Brooks, W. K.; Burkert, V. D.; Carman, D. S.; Celentano, A.; Chandavar, S.; Charles, G.; Cole, P. L.; Contalbrigo, M.; Crede, V.; D'Angelo, A.; Daniel, A.; Dashyan, N.; De Vita, R.; De Sanctis, E.; Deur, A.; Djalali, C.; Doughty, D.; Dupre, R.; El Alaoui, A.; El Fassi, L.; Eugenio, P.; Fedotov, G.; Fradi, A.; Gabrielyan, M. Y.; Gevorgyan, N.; Gilfoyle, G. P.; Giovanetti, K. L.; Girod, F. X.; Goetz, J. T.; Gohn, W.; Golovatch, E.; Graham, L.; Griffioen, K. A.; Guidal, M.; Guo, L.; Hafidi, K.; Hakobyan, H.; Hanretty, C.; Heddle, D.; Hicks, K.; Holtrop, M.; Hyde, C. E.; Ilieva, Y.; Ireland, D. G.; Ishkhanov, B. S.; Isupov, E. L.; Jenkins, D.; Jo, H. S.; Joo, K.; Kalantarians, N.; Khandaker, M.; Khetarpal, P.; Kim, A.; Kim, W.; Klein, A.; Klein, F. J.; Kubarovsky, A.; Kubarovsky, V.; Kuhn, S. E.; Kuleshov, S. V.; Kvaltine, N. D.; Livingston, K.; Lu, H. Y.; MacGregor, I. J. D.; Markov, N.; Mayer, M.; McKinnon, B.; Mestayer, M. D.; Meyer, C. A.; Mineeva, T.; Mirazita, M.; Mokeev, V.; Moutarde, H.; Munevar, E.; Nadel-Turonski, P.; Nasseripour, R.; Niccolai, S.; Niculescu, G.; Niculescu, I.; Osipenko, M.; Ostrovidov, A. I.; Paolone, M.; Pappalardo, L.; Paremuzyan, R.; Park, S.; Pereira, S. Anefalos; Phelps, E.; Pisano, S.; Pogorelko, O.; Pozdniakov, S.; Price, J. W.; Procureur, S.; Prok, Y.; Ricco, G.; Rimal, D.; Ripani, M.; Ritchie, B. G.; Rosner, G.; Rossi, P.; Sabatié, F.; Saini, M. S.; Salgado, C.; Schott, D.; Schumacher, R. A.; Seraydaryan, H.; Sharabian, Y. G.; Smith, E. S.; Smith, G. D.; Sober, D. I.; Sokhan, D.; Stepanyan, S. S.; Stepanyan, S.; Stoler, P.; Strakovsky, I. I.; Strauch, S.; Taiuti, M.; Tang, W.; Taylor, C. E.; Tian, Y.; Tkachenko, S.; Trivedi, A.; Ungaro, M.; Vernarsky, B.; Vlassov, A. V.; Voutier, E.; Watts, D. P.; Weygand, D. P.; Wood, M. H.; Zachariou, N.; Zhao, B.; Zhao, Z. W.

    2012-03-01

    We report the first extraction of the pion-nucleon multipoles near the production threshold for the nπ+ channel at relatively high momentum transfer (Q2 up to 4.2 GeV2). The dominance of the s-wave transverse multipole (E0+), expected in this region, allowed us to access the generalized form factor G1 within the light-cone sum-rule (LCSR) framework as well as the axial form factor GA. The data analyzed in this work were collected by the nearly 4π CEBAF Large Acceptance Spectrometer (CLAS) using a 5.754-GeV electron beam on a proton target. The differential cross section and the π-N multipole E0+/GD were measured using two different methods, the LCSR and a direct multipole fit. The results from the two methods are found to be consistent and almost Q2 independent.

  16. QCD calculation of π0γγ vertex at equal Euclidean q2 of both photons

    International Nuclear Information System (INIS)

    Voloshin, M.B.

    1982-01-01

    The form factor of the π 6 γγ vertex at equal space-like four- momentum q 2 of the photons (q 1 2 =q 2 2 =-Q 2 ) and a small four- momentum p 2 of the pion is calculated within QCD. Explicit expressions for leading perturbative and non perturbative preasymptotic corrections are derived. To find the latter correction matrix elements of operators of dimension d=5 between the pion and vacuum are calculated. The result for the form factor smoothly matches at Q 2 approximately 0.5 GeV 2 the estimate based on the vector mesom dominance model [ru

  17. Measuring the Neutron and 3He Spin Structure at Low Q2

    International Nuclear Information System (INIS)

    Vince Sulkosky

    2005-01-01

    The spin structure of the nucleon has been of great interest over the past few decades. Sum rules, including the Gerasimov-Drell-Hearn (GDH), and moments of the spin structure functions are powerful tools for understanding nucleon structure. The GDH sum rule, originally derived for real photon absorption, has been generalized to nonzero Q 2 . The goal of Jefferson Lab experiment E97-110 is to perform a precise measurement of the Q 2 dependence of the generalized GDH integral and of the moments of the neutron and 3 He spin structure functions between 0.02 and 0.3 GeV 2 . This Q 2 range will allow us to test predictions of Chiral Perturbation Theory, and verify the GDH sum rule by extrapolating the integral to the real photon point. The measurement will also contribute to the understanding of nucleon resonances. The data have been taken in Hall A using a high resolution spectrometer with the addition of a septum magnet, which allowed us to access the low Q 2 region. The analysis's status, prospects and impact will be discussed

  18. Partial deletion 11q

    DEFF Research Database (Denmark)

    Hertz, Jens Michael; Tommerup, N; Sørensen, F B

    1995-01-01

    We describe the cytogenetic findings and the dysmorphic features in a stillborn girl with a large de novo terminal deletion of the long arm of chromosome 11. The karyotype was 46,XX,del(11)(q21qter). By reviewing previous reports of deletion 11q, we found that cleft lip and palate are most...

  19. Formation of cubic phases from large unilamellar vesicles of dioleoylphosphatidylglycerol/monoolein membranes induced by low concentrations of Ca2+.

    Science.gov (United States)

    Awad, Tarek S; Okamoto, Yoshihide; Masum, Shah Md; Yamazaki, Masahito

    2005-12-06

    We developed a new method for the transformation of large unilamellar vesicles (LUVs) into the cubic phase. We found that the addition of low concentrations of Ca(2+) to suspensions of multilamellar vesicles (MLVs) of membranes of monoolein (MO) and dioleoylphosphatidylglycerol (DOPG) mixtures (DOPG/MO) changed their L(alpha) phase to the cubic phases. For instance, the addition of 15-25 mM Ca(2+) to 30%-DOPG/70%-MO-MLVs induced the Q(229) phase, whereas the addition of > or =28 mM Ca(2+) induced the Q(224) phase. LUVs of DOPG/MO membranes containing > or =25 mol % DOPG were prepared easily. Low concentrations of Ca(2+) transformed these LUVs in excess buffer into the Q(224) or the Q(229) phase, depending on the Ca(2+) concentration. For example, 15 and 50 mM Ca(2+) induced the Q(224) and Q(229) phase in the 30%-DOPG/70%-MO-LUVs at 25 degrees C, respectively. This finding is the first demonstration of transformation of LUVs of lipid membranes into the cubic phase under excess water condition.

  20. Optimized broad-histogram simulations for strong first-order phase transitions: droplet transitions in the large-Q Potts model

    International Nuclear Information System (INIS)

    Bauer, Bela; Troyer, Matthias; Gull, Emanuel; Trebst, Simon; Huse, David A

    2010-01-01

    The numerical simulation of strongly first-order phase transitions has remained a notoriously difficult problem even for classical systems due to the exponentially suppressed (thermal) equilibration in the vicinity of such a transition. In the absence of efficient update techniques, a common approach for improving equilibration in Monte Carlo simulations is broadening the sampled statistical ensemble beyond the bimodal distribution of the canonical ensemble. Here we show how a recently developed feedback algorithm can systematically optimize such broad-histogram ensembles and significantly speed up equilibration in comparison with other extended ensemble techniques such as flat-histogram, multicanonical and Wang–Landau sampling. We simulate, as a prototypical example of a strong first-order transition, the two-dimensional Potts model with up to Q = 250 different states in large systems. The optimized histogram develops a distinct multi-peak structure, thereby resolving entropic barriers and their associated phase transitions in the phase coexistence region—such as droplet nucleation and annihilation, and droplet–strip transitions for systems with periodic boundary conditions. We characterize the efficiency of the optimized histogram sampling by measuring round-trip times τ(N, Q) across the phase transition for samples comprised of N spins. While we find power-law scaling of τ versus N for small Q∼ 2 , we observe a crossover to exponential scaling for larger Q. These results demonstrate that despite the ensemble optimization, broad-histogram simulations cannot fully eliminate the supercritical slowing down at strongly first-order transitions

  1. Die soeke na die betekenis van Q: Inleidende opmerkings oor die geskiedenis van Q-navorsing

    Directory of Open Access Journals (Sweden)

    Gerhard Nel

    2003-10-01

    According to the two source-theory, large parts of the material in Matthew and Luke which show conformity and which are not found in Mark, point to the existence of a source which comprises sayings of Jesus and reminds one of the typical wisdom material in the Old Testament. In this paper a few introductory remarks are made on the history of the research done in respect of this source, known as Q. The questions regarding the actual existence and origin of Q are briefly discussed in the first part of the paper. Four aspects of Q research are addressed: Q is a document which shows its own integrity; the distinction between tradition and redaction in Q; stratifications and phases in the development of Q; the wisdom character of the material in Q.

  2. Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15(q27;q11.2 associated with Prader-Willi syndrome

    Directory of Open Access Journals (Sweden)

    Slater Howard R

    2005-05-01

    Full Text Available Abstract Background Prader-Willi syndrome (MIM #176270; PWS is caused by lack of the paternally-derived copies, or their expression, of multiple genes in a 4 Mb region on chromosome 15q11.2. Known mechanisms include large deletions, maternal uniparental disomy or mutations involving the imprinting center. De novo balanced reciprocal translocations in 5 reported individuals had breakpoints clustering in SNRPN intron 2 or exon 20/intron 20. To further dissect the PWS phenotype and define the minimal critical region for PWS features, we have studied a 22 year old male with a milder PWS phenotype and a de novo translocation t(4;15(q27;q11.2. Methods We used metaphase FISH to narrow the breakpoint region and molecular analyses to map the breakpoints on both chromosomes at the nucleotide level. The expression of genes on chromosome 15 on both sides of the breakpoint was determined by RT-PCR analyses. Results Pertinent clinical features include neonatal hypotonia with feeding difficulties, hypogonadism, short stature, late-onset obesity, learning difficulties, abnormal social behavior and marked tolerance to pain, as well as sticky saliva and narcolepsy. Relative macrocephaly and facial features are not typical for PWS. The translocation breakpoints were identified within SNRPN intron 17 and intron 10 of a spliced non-coding transcript in band 4q27. LINE and SINE sequences at the exchange points may have contributed to the translocation event. By RT-PCR of lymphoblasts and fibroblasts, we find that upstream SNURF/SNRPN exons and snoRNAs HBII-437 and HBII-13 are expressed, but the downstream snoRNAs PWCR1/HBII-85 and HBII-438A/B snoRNAs are not. Conclusion As part of the PWCR1/HBII-85 snoRNA cluster is highly conserved between human and mice, while no copy of HBII-438 has been found in mouse, we conclude that PWCR1/HBII-85 snoRNAs is likely to play a major role in the PWS- phenotype.

  3. Evaluation of two new STR loci 9q2h2 and wg3f12 in a Japanese population.

    Science.gov (United States)

    Mizutani, M; Huang, X L; Tamaki, K; Yoshimoto, T; Uchihi, R; Yamamoto, T; Katsumata, Y; Armour, J A

    1999-09-01

    Two short tandem repeat (STR) loci (9q2h2 and wg3f12) have been evaluated in a Japanese population. Ten and seven different alleles were observed in 9q2h2 and wg3f12 respectively. 9q2h2 displayed simple polymorphism in tetrameric repeat structure; by contrast, wg3f12 contained variable numbers of tetrameric repeats and a 30-bp deletion/insertion polymorphism. No "interalleles" were found. The expected heterozygosities of 9q2h2 and wg3fl2 were 0.749 and 0.574, respectively. No deviation from Hardy-Weinberg equilibrium was found.

  4. Genetics Home Reference: 2q37 deletion syndrome

    Science.gov (United States)

    ... on PubMed or Free article on PubMed Central Casas KA, Mononen TK, Mikail CN, Hassed SJ, Li S, ... 2005 Aug 18. Citation on PubMed Falk RE, Casas KA. Chromosome 2q37 deletion: clinical and molecular aspects. ...

  5. The cognitive development of children with the 22q11.2 deletion syndrome

    NARCIS (Netherlands)

    Duijff, S.N.

    2012-01-01

    Background: The 22q11.2 deletion syndrome (22q11DS) is a genetic disorder associated with palatal abnormalities, cardiac defects and characteristic facial features. On a behavioural/ psychiatric level, children with 22q11DS are at an increased risk for various psychiatric problems, including Autism

  6. Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk

    Science.gov (United States)

    Broderick, Peter; Chen, Bowang; Johnson, David C; Försti, Asta; Vijayakrishnan, Jayaram; Migliorini, Gabriele; Dobbins, Sara E; Holroyd, Amy; Hose, Dirk; Walker, Brian A; Davies, Faith E; Gregory, Walter A; Jackson, Graham H; Irving, Julie A; Pratt, Guy; Fegan, Chris; Fenton, James AL; Neben, Kai; Hoffmann, Per; Nöthen, Markus M; Mühleisen, Thomas W; Eisele, Lewin; Ross, Fiona M; Straka, Christian; Einsele, Hermann; Langer, Christian; Dörner, Elisabeth; Allan, James M; Jauch, Anna; Morgan, Gareth J; Hemminki, Kari; Houlston, Richard S; Goldschmidt, Hartmut

    2016-01-01

    To identify variants for multiple myeloma risk, we conducted a genome-wide association study with validation in additional series totaling 4,692 cases and 10,990 controls. We identified four risk loci at 3q26.2 (rs10936599, P=8.70x10-14), 6p21.33 (rs2285803, PSORS1C2; P= 9.67x10-11), 17p11.2 (rs4273077, TNFRSF13B; P=7.67x10-9) and 22q13.1 (rs877529, CBX7; P=7.63x10-16). These data provide further evidence for genetic susceptibility to this B-cell hematological malignancy and insight into the biological basis of predisposition. PMID:23955597

  7. A Pst I polymorphism in the human laminin B2 chain gene on 1q25-q31

    Energy Technology Data Exchange (ETDEWEB)

    Kallunki, T; Pikkarainen, T; Tryggvason, K; Savolainen, E R [Univ. of Oulu (Finland)

    1989-06-12

    pHL-210 is a 2.7 kb cDNA insert in pBR322 that codes for the central position of the 7.5 kb mRNA. A Pst I polymorphism was identified with pHL-210. The allele frequency was studied in 40 chromosomes of unrelated Finnish individuals. The probe was localized to chromosome 1q25-q31 by somatic cell and in situ hybridization. Co-dominant inheritance was shown in three families.

  8. Examining the Overlap between Autism Spectrum Disorder and 22q11.2 Deletion Syndrome

    Directory of Open Access Journals (Sweden)

    Opal Ousley

    2017-05-01

    Full Text Available 22q11.2 deletion syndrome (22q11.2DS is a genomic disorder reported to associate with autism spectrum disorders (ASDs in 15–50% of cases; however, others suggest that individuals with 22q11.2DS present psychiatric or behavioral features associated with ASDs, but do not meet full criteria for ASD diagnoses. Such wide variability in findings may arise in part due to methodological differences across studies. Our study sought to determine whether individuals with 22q11.2DS meet strict ASD diagnostic criteria using research-based guidelines from the Collaborative Programs of Excellence in Autism (CPEA, which required a gathering of information from three sources: the Autism Diagnostic Interview-Revised (ADI-R, the Autism Diagnostic Observational Schedule (ADOS, and a clinician’s best-estimate diagnosis. Our study examined a cohort of children, adolescents, and young adults (n = 56 with 22q11.2DS, who were ascertained irrespective of parents’ behavioral or developmental concerns, and found that 17.9% (n = 10 of the participants met CPEA criteria for an ASD diagnosis, and that a majority showed some level of social-communication impairment or the presence of repetitive behaviors. We conclude that strictly defined ASDs occur in a substantial proportion of individuals with 22q11.2DS, and recommend that all individuals with 22q11.2DS be screened for ASDs during early childhood.

  9. Precise Measurement of the Deuteron Elastic structure Function A(Q2)

    International Nuclear Information System (INIS)

    D. Abbott; A. Ahmidouch; H. Anklin; J. Arvieux; J. Bail; S. Beedoe; E. J. Beise; L. Bimbot; W. Boeglin; H. Breuer; R. Carlini; N. S. Chant; S. Danagoulian; K. Dow; J.E. Ducret; J. Dunne; R. Ent; L. Ewell; L. Eyraud; C. Furget; M. Garcon; R. Gilman; C. Glashausser; P. Gucye; K. Gustafsson; K. Hafidi; A. Honegger; J. Jourdan; S. Kox; G. Kumbartzki; L. Lu; A. Lung; D. Mack; P. Markowitz; J. McIntyre; D. Meekins; F. Merchez; J. Mitchell; R. Mohring; S. Mtingwa; H. Mrktchyan; D. Pitz; L. Qin; R. Ransome; J.S. Real; P. G. Roos; P. Rutt; R. Sawafta; S. Stepanyan; R. Tieulent; E. Tomasi-Gustafsson; W. Turchinetz; K. Vansyoc; J. Volmer; E. Voutier; W. Vulcan; C. Williamson; S. A. Wood; C. Yan; J. Zhao; W. Zhao

    1999-01-01

    The A(Q 2 ) structure function in elastic electron-deuteron scattering was measured at six momentum transfers Q 2 between 0.66 and 1.80 (GeV/c) 2 in Hall C at Jefferson Laboratory. The scattered electrons and recoil deuterons were detected in coincidence, at a fixed deuteron angle of 60.5 o . These new precise measurements resolve discrepancies between older sets of data. They put significant constraints on existing models of the deuteron electromagnetic structure, and on the strength of isoscalar meson exchange currents

  10. Jet production in ep collisions at high Q2 and determination of αs

    International Nuclear Information System (INIS)

    Aaron, F.D.; Alexa, C.; Preda, T.; Rotaru, M.; Stoicea, G.; Zus, R.; Alimujiang, K.; Antunovic, B.; Bartel, W.; Brandt, G.; Campbell, A.J.; Cholewa, A.; Deak, M.; Boer, Y. de; Roeck, A. de; Eckerlin, G.; Elsen, E.; Felst, R.; Fischer, D.J.; Fleischer, M.; Gayler, J.; Glazov, A.; Gouzevitch, M.; Grell, B.R.; Haidt, D.; Helebrant, C.; Janssen, M.E.; Jung, H.; Katzy, J.; Kleinwort, C.; Knutsson, A.; Korbel, V.; Kraemer, M.; Krastev, K.; Kutak, K.; Levonian, S.; List, J.; Marti, L.; Meyer, A.B.; Meyer, H.; Meyer, J.; Michels, V.; Niebuhr, C.; Nikiforov, A.; Nozicka, M.; Olsson, J.E.; Panagoulias, I.; Papadopoulou, T.; Pitzl, D.; Placakyte, R.; Radescu, V.; Rurikova, Z.; Schmitt, S.; Sefkow, F.; Staykova, Z.; Steder, M.; Vargas Trevino, A.; Vinokurova, S.; Driesch, M. von den; Wissing, C.; Wuensch, E.; Andreev, V.; Belousov, A.; Eliseev, A.; Fomenko, A.; Gogitidze, N.; Lebedev, A.; Loktionova, N.; Malinovski, E.; Rusakov, S.; Sheviakov, I.; Shtarkov, L.N.; Soloviev, Y.; Vazdik, Y.; Asmone, A.; Stella, B.; Backovic, S.; Dubak, A.; Lastovicka-Medin, G.; Picuric, I.; Raicevic, N.; Baghdasaryan, A.; Ghazaryan, S.; Volchinski, V.; Zohrabyan, H.; Barrelet, E.; Begzsuren, K.; Ravdandorj, T.; Tseepeldorj, B.; Bizot, J.C.; Brisson, V.; Delcourt, B.; Jacquet, M.; Li, G.; Pascaud, C.; Tran, T.H.; Zhang, Z.; Zomer, F.; Boudry, V.; Moreau, F.; Specka, A.; Bozovic-Jelisavcic, I.; Mudrinic, M.; Pandurovic, M.; Smiljanic, I.; Bracinik, J.; Faulkner, P.J.W.; Kenyon, I.R.; Newman, P.R.; Shaw-West, R.N.; Thompson, P.D.; Brinkmann, M.; Habib, S.; Jemanov, V.; Lipka, K.; List, B.; Naroska, B.; Pokorny, B.; Toll, T.; Bruncko, D.; Cerny, V.; Ferencei, J.; Murin, P.; Tomasz, F.; Bunyatyan, A.; Buschhorn, G.; Chekelian, V.; Dossanov, A.; Grindhammer, G.; Kiesling, C.; Kogler, R.; Liptaj, A.; Olivier, B.; Raspiareza, A.; Shushkevich, S.; Bystritskaya, L.; Efremenko, V.; Fedotov, A.; Kropivnitskaya, A.; Lubimov, V.; Ozerov, D.; Petrukhin, A.; Rostovtsev, A.; Zhokin, A.; Cantun Avila, K.B.; Contreras, J.G.; Ruiz Tabasco, J.E.; Cassol-Brunner, F.; Diaconu, C.; Hoffmann, D.; Sauvan, E.; Trinh, T.N.; Vallee, C.; Cerny, K.; Pejchal, O.; Polifka, R.; Salek, D.; Valkarova, A.; Zacek, J.; Coughlan, J.A.; Morris, J.V.; Sankey, D.P.C.; Cozzika, G.; Feltesse, J.; Perez, E.; Schoeffel, L.; Cvach, J.; Reimer, P.; Zalesak, J.; Dainton, J.B.; Gabathuler, E.; Greenshaw, T.; Klein, M.; Kluge, T.; Kretzschmar, J.; Laycock, P.; Maxfield, S.J.; Mehta, A.; Patel, G.D.; Rahmat, A.J.; Daum, K.; Meyer, H.; Del Degan, M.; Grab, C.; Leibenguth, G.; Sauter, M.; Zimmermann, T.; Delvax, J.; Wolf, E.A. de; Favart, L.; Hreus, T.; Janssen, X.; Marage, P.; Mozer, M.U.; Roland, B.; Roosen, R.; Sunar, D.; Sykora, T.; Mechelen, P. van; Dodonov, V.; Lytkin, L.; Povh, B.; Egli, S.; Hildebrandt, M.; Horisberger, R.; Falkiewicz, A.; Goerlich, L.; Mikocki, S.; Milcewicz-Mika, I.; Nowak, G.; Sopicki, P.; Turnau, J.; Glushkov, I.; Henschel, H.; Hiller, K.H.; Kostka, P.; Lange, W.; Naumann, T.; Piec, S.; Henderson, R.C.W.; Sloan, T.; Hennekemper, E.; Herbst, M.; Jung, A.W.; Krueger, K.; Lendermann, V.; Schultz-Coulon, H.C.; Urban, K.; Herrera, G.; Lopez-Fernandez, R.; Joensson, L.; Osman, S.; Kapichine, M.; Makankine, A.; Morozov, A.; Palichik, V.; Spaskov, V.; Tchoulakov, V.; Landon, M.P.J.; Rizvi, E.; Thompson, G.; Traynor, D.; Martyn, H.U.; Mueller, K.; Nowak, K.; Robmann, P.; Schmitz, C.; Straumann, U.; Truoel, P.; Schoening, A.; South, D.; Wegener, D.; Tsakov, I.

    2010-01-01

    The production of jets is studied in deep-inelastic e ± p scattering at large negative four momentum transfer squared 150 2 2 using HERA data taken in 1999-2007, corresponding to an integrated luminosity of 395 pb -1 . Inclusive jet, 2-jet and 3-jet cross sections, normalised to the neutral current deep-inelastic scattering cross sections, are measured as functions of Q 2 , jet transverse momentum and proton momentum fraction. The measurements are well described by perturbative QCD calculations at next-to-leading order corrected for hadronisation effects. The strong coupling as determined from these measurements is α s (M Z )=0.1168±0.0007(exp.) +0.0046 -0.0030 (th.)±0.0016 (PDF). (orig.)

  11. Review of Brookhaven nuclear transparency measurements in (p, 2p) reactions at large Q2

    International Nuclear Information System (INIS)

    Carroll, Alan S.

    2003-01-01

    In this contribution we summarize the results of two experiments to measure the transparency of nuclei in the (p, 2p) quasi-elastic scattering process near 90 deg in the pp center-of-mass. The incident momenta went from 6 to 14.4 GeV/c, corresponding to 4.8 2 2 . First, we describe the measurements with the newer experiment, E850, which has more complete kinematic definition of quasi-elastic events. E850 covers a larger range of incident momenta, and thus provides more information regarding the nature of the unexpected fall in the transparency above 9 GeV/c. Second, we review the techniques used in an earlier experiment, E834, and show that the two experiments are consistent for the carbon data. We use the transparencies measured in the five nuclei from Li to Pb to set limits on the rate of expansion for protons involved in quasi-elastic scattering at large momentum transfer. (author)

  12. Dipole model analysis of highest precision HERA data, including very low Q"2's

    International Nuclear Information System (INIS)

    Luszczak, A.; Kowalski, H.

    2016-12-01

    We analyse, within a dipole model, the final, inclusive HERA DIS cross section data in the low χ region, using fully correlated errors. We show, that these highest precision data are very well described within the dipole model framework starting from Q"2 values of 3.5 GeV"2 to the highest values of Q"2=250 GeV"2. To analyze the saturation effects we evaluated the data including also the very low 0.35< Q"2 GeV"2 region. The fits including this region show a preference of the saturation ansatz.

  13. Light meson form factors at high Q2 from lattice QCD

    Science.gov (United States)

    Koponen, Jonna; Zimermmane-Santos, André; Davies, Christine; Lepage, G. Peter; Lytle, Andrew

    2018-03-01

    Measurements and theoretical calculations of meson form factors are essential for our understanding of internal hadron structure and QCD, the dynamics that bind the quarks in hadrons. The pion electromagnetic form factor has been measured at small space-like momentum transfer |q2| theory is applicable. This leaves a gap in the intermediate Q2 where the form factors are not known. As a part of their 12 GeV upgrade Jefferson Lab will measure pion and kaon form factors in this intermediate region, up to Q2 of 6 GeV2. This is then an ideal opportunity for lattice QCD to make an accurate prediction ahead of the experimental results. Lattice QCD provides a from-first-principles approach to calculate form factors, and the challenge here is to control the statistical and systematic uncertainties as errors grow when going to higher Q2 values. Here we report on a calculation that tests the method using an ηs meson, a 'heavy pion' made of strange quarks, and also present preliminary results for kaon and pion form factors. We use the nf = 2 + 1 + 1 ensembles made by the MILC collaboration and Highly Improved Staggered Quarks, which allows us to obtain high statistics. The HISQ action is also designed to have small dicretisation errors. Using several light quark masses and lattice spacings allows us to control the chiral and continuum extrapolation and keep systematic errors in check. Warning, no authors found for 2018EPJWC.17506016.

  14. Coenzyme Q10 Supplementation Modulates NFκB and Nrf2 Pathways in Exercise Training

    Directory of Open Access Journals (Sweden)

    Ragip Pala, Cemal Orhan, Mehmet Tuzcu, Nurhan Sahin, Shakir Ali, Vedat Cinar, Mustafa Atalay, Kazim Sahin

    2016-03-01

    Full Text Available This study reports the effects of Q10, coenzyme Q10 or ubiquinone, a component of the electron transport chain in mitochondria, on nuclear factor kappa-light-chain-enhancer of activated B cells (NFκB, inhibitors of kappa B (IκB, nuclear factor (erythroid-derived 2-like 2 (Nrf2 and hemeoxygenase 1 (HO-1 in rats after chronic exercise training for 6 weeks. 8-week old male Wistar rats were assigned randomly to one of four treatments planned in a 2 x 2 factorial arrangement of two condition (sedentary vs. exercise training, and two coenzyme Q10 levels (0 and 300 mg/kg per day for 6 weeks. The expression levels of the target proteins were determined in the heart, liver and muscle, and biochemical parameters including creatinine, urea, glucose and lipid profile were investigated in plasma. When compared with sedentary group, significant decreases in heart, liver and muscle NFκB levels by 45%, 26% and 44% were observed in Q10 supplemented rats after exercise training, respectively, while the inhibitory protein IκB increased by 179%, 111% and 127% in heart, liver and muscle tissues. Q10 supplementation caused an increase in Nrf2 (167%, 165% and 90% and HO-1 (107%, 156% and 114% after exercise training in heart, liver and muscle tissues (p < 0.05. No significant change was observed in any of the parameters associated with protein, carbohydrate and lipid metabolism, except that exercise caused a decrease in plasma triglyceride, which was further decreased by Q10. In conclusion, these results suggest that Q10 modulates the expression of NFκB, IκB, Nrf2 and HO-1 in exercise training, indicating an anti-inflammatory effect of Q10 and emphasizes its role in antioxidant defense.

  15. Fermi-Pasta-Ulam-Tsingou problems: Passage from Boltzmann to q-statistics

    Science.gov (United States)

    Bagchi, Debarshee; Tsallis, Constantino

    2018-02-01

    The Fermi-Pasta-Ulam (FPU) one-dimensional Hamiltonian includes a quartic term which guarantees ergodicity of the system in the thermodynamic limit. Consistently, the Boltzmann factor P(ε) ∼e-βε describes its equilibrium distribution of one-body energies, and its velocity distribution is Maxwellian, i.e., P(v) ∼e - βv2 /2. We consider here a generalized system where the quartic coupling constant between sites decays as 1 / dijα (α ≥ 0 ;dij = 1 , 2 , …) . Through first-principle molecular dynamics we demonstrate that, for large α (above α ≃ 1), i.e., short-range interactions, Boltzmann statistics (based on the additive entropic functional SB [ P(z) ] = - k ∫ dzP(z) ln P(z)) is verified. However, for small values of α (below α ≃ 1), i.e., long-range interactions, Boltzmann statistics dramatically fails and is replaced by q-statistics (based on the nonadditive entropic functional Sq [ P(z) ] = k(1 - ∫ dz[ P(z) ]q) /(q - 1) , with S1 =SB). Indeed, the one-body energy distribution is q-exponential, P(ε) ∼ eqε-βε ε ≡[ 1 +(qε - 1) βε ε ]-1 /(qε - 1) with qε > 1, and its velocity distribution is given by P(v) ∼ eqv-βvv2 / 2 with qv > 1. Moreover, within small error bars, we verify qε =qv = q, which decreases from an extrapolated value q ≃ 5 / 3 to q = 1 when α increases from zero to α ≃ 1, and remains q = 1 thereafter.

  16. Precise Measurement of the Deuteron Elastic Structure Function A(Q2 )

    International Nuclear Information System (INIS)

    Ball, J.; Ducret, J.; Garcon, M.; Hafidi, K.; Pitz, D.; Tomasi-Gustafsson, E.; Honegger, A.; Jourdan, J.; Zhao, J.; Beise, E.J.; Breuer, H.; Chant, N.S.; Ewell, L.; Gustafsson, K.; Lung, A.; Mohring, R.; Pitz, D.; Roos, P.G.; Eyraud, L.; Furget, C.; Kox, S.; Lu, L.; Merchez, F.; Real, J.; Tieulent, R.; Voutier, E.; Abbott, D.; Carlini, R.; Dunne, J.; Ent, R.; Gilman, R.; Gueye, P.; Mack, D.; Meekins, D.; Mitchell, J.; Pitz, D.; Qin, L.; Vansyoc, K.; Volmer, J.; Vulcan, W.; Wood, S.A.; Yan, C.; Gilman, R.; Glashausser, C.; Kumbartzki, G.; McIntyre, J.; Ransome, R.; Rutt, P.; Ahmidouch, A.; Dow, K.; Turchinetz, W.; Williamson, C.; Zhao, W.; Anklin, H.; Boeglin, W.; Markowitz, P.; Mrktchyan, H.; Stepanyan, S.; Ahmidouch, A.; Beedoe, S.; Danagoulian, S.; Mtingwa, S.; Sawafta, R.; Arvieux, J.; Ball, J.; Tomasi-Gustafsson, E.; Arvieux, J.; Bimbot, L.

    1999-01-01

    The A(Q 2 ) structure function in elastic electron-deuteron scattering was measured at six momentum transfers Q 2 between 0.66 and 1.80 (GeV/c) 2 in Hall C at Jefferson Laboratory. The scattered electrons and recoil deuterons were detected in coincidence, at a fixed deuteron angle of 60.5 degree. These new precise measurements resolve discrepancies between older sets of data. They put significant constraints on existing models of the deuteron electromagnetic structure, and on the strength of isoscalar meson exchange currents. copyright 1999 The American Physical Society

  17. New infiniti Q45. Shingata Infiniti Q45'' ni tsuite

    Energy Technology Data Exchange (ETDEWEB)

    Oka, T; Ochiai, A; Kato, Y [Nissan Motor Co. Ltd., Tokyo (Japan)

    1989-12-25

    This report introduces the concept for development and the outline of the Infiniti Q45, a new luxury sedan Nissan has developed, and special activities Nissan makes to produce luxury cars. This sedan was developed with the concept of producing a large-sized luxury car of evidently Japanese make to earn the world appraisal; a touring saloon whose style is original and unique based on the sensitivity of Japanese and yet which has the performance of a sports car. Every part of the Infiniti Q45, from the V8 engine and the 4.5 L DOHC 32 valve engine to the hydraulic active suspension, the first to be loaded on a mass production car, features Nissan's innovative and leading-edge technology. Moreover, to provide maximum customer satisfaction in every scene from the purchase of a car to services, various constructive programs have been adopted with the key word, Total Ownership Experience. 8 figs., 2 tabs.

  18. Qq(Q-bar)(q-bar)' states in chiral SU(3) quark model

    International Nuclear Information System (INIS)

    Zhang Haixia; Zhang Min; Zhang Zongye

    2007-01-01

    We study the masses of Qq(Q-bar)(q-bar)' states with J PC =0 ++ , 1 ++ , 1 +- and 2 ++ in the chiral SU(3) quark model, where Q is the heavy quark (c or b) and q(q') is the light quark (u,d or s). According to our numerical results, it is improbable to make the interpretation of [cn(c-bar)(n-bar)] 1 ++ and [cn(c-bar)(n-bar)] 2 ++ (n=u,d) states as X(3872) and Y(3940), respectively. However, it is interesting to find the tetraquarks in the bq(b-bar)(q-bar)' system. (authors)

  19. Prevalence of 22q11.2 deletions in 311 Dutch patients with schizophrenia

    NARCIS (Netherlands)

    Hoogendoorn, Mechteld L C; Vorstman, Jacob A S; Jalali, Gholam R; Selten, Jean-Paul; Sinke, Richard J; Emanuel, Beverly S; Kahn, René S

    UNLABELLED: The objectives of this study were 1) to examine whether the prevalence of 22q11.2 deletion syndrome (22q11DS) in schizophrenia patients with the Deficit syndrome is higher than the reported approximately 2% for the population of schizophrenia patients as a whole, and 2) to estimate the

  20. Variation of multiplicity and transverse energy flow with W{sup 2} and Q{sup 2} in deep inelastic scattering at HERA

    Energy Technology Data Exchange (ETDEWEB)

    Lohmander, H

    1995-04-01

    Charged particle and transverse energy flow for deep inelastic ep scattering at HERA have been investigated in the hadronic center of mass systems as a function of pseudorapidity {eta}* in different W{sup 2} and Q{sup 2} intervals. In addition, the mean charged particle multiplicity and the mean transverse energy as a function of W{sup 2} and Q{sup 2} have been studied. The measurements were made in the kinematic region 85 < W < 230 GeV and 10 < Q{sup 2} < 7000 GeV{sup 2}. The < n{sub ch} > was found to increase with increasing W{sup 2} at fixed Q{sup 2} but did not show any significant dependence on Q{sup 2} at fixed W{sup 2}. The best description of the mean charged multiplicity is given by =a+b{center_dot}ln(W{sup 2}/GeV{sup 2}) with a=-1.38{+-}0.07 and b=0.93{+-}0.05. The increased both with increasing W{sup 2} at fixed Q{sup 2} and with increasing Q{sup 2} at fixed W{sup 2}. The mean transverse energy is described by =a+b{center_dot}ln(W{sup 2}/GeV{sup 2})+c{center_dot}ln (Q{sup 2}/GeV{sup 2})GeV with a=-5.93{+-}0.07, b=1.28{+-}0.06 and c=0.69{+-}0.02. Different QCD models have been compared with data. Only the Color Dipole Model, as implemented in the Monte Carlo program Ariadne, describes the data satisfactorily. 29 refs.

  1. When semantics turns to substance: reformulating QCD analysis of F2{γ}(x,Q2)}

    International Nuclear Information System (INIS)

    Chyla, J.

    2000-01-01

    QCD analysis of F 2 {γ} (x,Q 2 ) is revisited. It is emphasized that the presence of the inhomogeneous term in the evolution equations for quark distribution functions of the photon implies important difference in the way factorization mechanism works in photon-hadron and photon-photon collisions as compared to the hadronic ones. Moreover, a careful definitions of the very concepts of the ''leading order'' and ''next-to-leading order'' QCD analysis of F 2 {γ} are needed in order to separate genuine QCD effects from those of pure QED origin. After presenting such definitions, I show that all existing allegedly LO, as well as NLO analyses of F 2 {γ} (x,Q 2 ) are incomplete. The source of this incompleteness of the conventional approach is traced back to the lack of clear identification of QCD effects and to the misinterpretation of the behaviour of q {γ} (x,M) as a function of /α s (M). Complete LO and NLO QCD analyses of F 2 {γ} (x,Q 2 ) are shown to differ substantially from the conventional ones. Whereas complete NLO analysis requires the knowledge of two so far uncalculated quantities, a complete LO one is currently possible, but compared to the conventional formulation requires the inclusion of four known, but in the existing LO analyses unused quantities. The arguments recently advanced in favour of the conventional approach are analyzed and shown to contain a serious flaw. If corrected, they actually lend support to my claim. (author)

  2. Movement Disorders and Other Motor Abnormalities in Adults With 22q11.2 Deletion Syndrome

    Science.gov (United States)

    Boot, Erik; Butcher, Nancy J; van Amelsvoort, Thérèse AMJ; Lang, Anthony E; Marras, Connie; Pondal, Margarita; Andrade, Danielle M; Fung, Wai Lun Alan; Bassett, Anne S

    2015-01-01

    Movement abnormalities are frequently reported in children with 22q11.2 deletion syndrome (22q11.2DS), but knowledge in this area is scarce in the increasing adult population. We report on five individuals illustrative of movement disorders and other motor abnormalities in adults with 22q11.2DS. In addition to an increased susceptibility to neuropsychiatric disorders, seizures, and early-onset Parkinson disease, the underlying brain dysfunction associated with 22q11.2DS may give rise to an increased vulnerability to multiple movement abnormalities, including those influenced by medications. Movement abnormalities may also be secondary to treatable endocrine diseases and congenital musculoskeletal abnormalities. We propose that movement abnormalities may be common in adults with 22q11.2DS and discuss the implications and challenges important to clinical practice. PMID:25684639

  3. SPECTRAL PROPERTIES OF LARGE GRADUAL SOLAR ENERGETIC PARTICLE EVENTS. II. SYSTEMATIC Q/M DEPENDENCE OF HEAVY ION SPECTRAL BREAKS

    Energy Technology Data Exchange (ETDEWEB)

    Desai, M. I.; Dayeh, M. A.; Ebert, R. W.; Schwadron, N. A. [Southwest Research Institute, 6220 Culebra Road, San Antonio, TX 78238 (United States); Mason, G. M. [Johns Hopkins University/Applied Physics Laboratory, Laurel, MD 20723 (United States); McComas, D. J. [Department of Astrophysical Sciences, Princeton University, NJ 08544 (United States); Li, G. [The Center for Space Plasma and Aeronomic Research (CSPAR), University of Alabama in Huntsville, Huntsville, AL 35756 (United States); Cohen, C. M. S.; Mewaldt, R. A. [California Institute of Technology, Pasadena, CA 91125 (United States); Smith, C. W., E-mail: mdesai@swri.edu [University of New Hampshire, 8 College Road, Durham NH 03824 (United States)

    2016-09-10

    We fit ∼0.1–500 MeV nucleon{sup −1} H–Fe spectra in 46 large solar energetic particle (SEP) events with the double power-law Band function to obtain a normalization constant, low- and high-energy parameters γ {sub a} and γ {sub b}, and break energy E {sub B}, and derive the low-energy spectral slope γ {sub 1}. We find that: (1) γ {sub a}, γ {sub 1}, and γ {sub b} are species-independent and the spectra steepen with increasing energy; (2) E {sub B} decreases systematically with decreasing Q/M scaling as (Q/M){sup α}; (3) α varies between ∼0.2–3 and is well correlated with the ∼0.16–0.23 MeV nucleon{sup −1} Fe/O; (4) in most events, α < 1.4, γ {sub b}– γ {sub a} > 3, and O E {sub B} increases with γ {sub b}– γ {sub a}; and (5) in many extreme events (associated with faster coronal mass ejections (CMEs) and GLEs), Fe/O and {sup 3}He/{sup 4}He ratios are enriched, α ≥ 1.4, γ {sub b}– γ {sub a} < 3, and E {sub B} decreases with γ {sub b}– γ {sub a}. The species-independence of γ {sub a}, γ {sub 1}, and γ {sub b} and the Q/M dependence of E {sub B} within an event and the α values suggest that double power-law SEP spectra occur due to diffusive acceleration by near-Sun CME shocks rather than scattering in interplanetary turbulence. Using γ {sub 1}, we infer that the average compression ratio for 33 near-Sun CME shocks is 2.49 ± 0.08. In most events, the Q/M dependence of E {sub B} is consistent with the equal diffusion coefficient condition and the variability in α is driven by differences in the near-shock wave intensity spectra, which are flatter than the Kolmogorov turbulence spectrum but weaker than the spectra for extreme events. In contrast, in extreme events, enhanced wave power enables faster CME shocks to accelerate impulsive suprathermal ions more efficiently than ambient coronal ions.

  4. A case of de novo duplication of 15q24-q26.3

    Directory of Open Access Journals (Sweden)

    Hye Ran Kim

    2011-06-01

    Full Text Available Distal duplication, or trisomy 15q, is an extremely rare chromosomal disorder characterized by prenatal and postnatal overgrowth, mental retardation, and craniofacial malformations. Additional abnormalities typically include an unusually short neck, malformations of the fingers and toes, scoliosis and skeletal malformations, genital abnormalities, particularly in affected males, and, in some cases, cardiac defects. The range and severity of symptoms and physical findings may vary from case to case, depending upon the length and location of the duplicated portion of chromosome 15q. Most reported cases of duplication of the long arm of chromosome 15 frequently have more than one segmental imbalance resulting from unbalanced translocations involving chromosome 15 and deletions in another chromosome, as well as other structural chromosomal abnormalities. We report a female newborn with a de novo duplication, 15q24- q26.3, showing intrauterine overgrowth, a narrow asymmetric face with down-slanting palpebral fissures, a large, prominent nose, and micrognathia, arachnodactyly, camptodactyly, congenital heart disease, hydronephrosis, and hydroureter. Chromosomal analysis showed a 46,XX,inv(9(p12q13,dup(15(q24q26.3. Array comparative genomic hybridization analysis revealed a gain of 42 clones on 15q24-q26.3. This case represents the only reported patient with a de novo 15q24-q26.3 duplication that did not result from an unbalanced translocation and did not have a concomitant monosomic component in Korea.

  5. Plasma coenzyme Q10 levels in type 2 diabetic patients with retinopathy

    Science.gov (United States)

    Ates, Orhan; Bilen, Habip; Keles, Sadullah; Alp, H. Hakan; Keleş, Mevlüt Sait; Yıldırım, Kenan; Öndaş, Osman; Pınar, L. Can; Civelekler, Mustafa; Baykal, Orhan

    2013-01-01

    AIM To determine the relationship between proliferative diabetic retinopathy (PDRP) and plasma coenzyme Q10(CoQ10) concentration. METHODS Patients with type 2 diabetes and PDRP were determined to be the case group (n=50). The control group was consist of healthy individuals (n=50). Plasma CoQ10 and malondialdehyde (MDA) levels were measured in both groups. RESULTS Ubiquinone-10 (Coenzyme Q10) levels in PDRP and control subjects are 3.81±1.19µmol/L and 1.91±0.62µmol/L, respectively. Plasma MDA levels in PDRP and control subjects were 8.16±2µmol/L and 3.44±2.08µmol/L, respectively. Ratio of Ubiquinol-10/ubiquinone-10 in PDRP and control subjects were 0.26±0.16 and 1.41±0.68, respectively. CONCLUSION The ratio of ubiquinol-10/ubiquinone-10 is found lower in patients with PDRP. High levels of plasma ubiquinol-10/ubiquinone-10 ratio indicate the protective effect on diabetic retinopathy. PMID:24195048

  6. Plasma coenzyme Q10 levels in type 2 diabetic patients with retinopathy

    Directory of Open Access Journals (Sweden)

    Orhan Ates

    2013-10-01

    Full Text Available AIM: To determine the relationship between proliferative diabetic retinopathy (PDRP and plasma coenzyme Q10(CoQ10 concentration.METHODS: Patients with type 2 diabetes and PDRP were determined to be the case group (n=50. The control group was consist of healthy individuals (n=50. Plasma CoQ10 and malondialdehyde (MDA levels were measured in both groups.RESULTS: Ubiquinone-10 (Coenzyme Q10 levels in PDRP and control subjects are 3.81±1.19µmol/L and 1.91±0.62µmol/L, respectively. Plasma MDA levels in PDRP and control subjects were 8.16±2µmol/L and 3.44±2.08µmol/L, respectively. Ratio of Ubiquinol-10/ubiquinone-10 in PDRP and control subjects were 0.26±0.16 and 1.41±0.68, respectively.CONCLUSION:The ratio of ubiquinol-10/ubiquinone-10 is found lower in patients with PDRP. High levels of plasma ubiquinol-10/ubiquinone-10 ratio indicate the protective effect on diabetic retinopathy.

  7. Large-area and highly crystalline MoSe2 for optical modulator

    Science.gov (United States)

    Yin, Jinde; Chen, Hao; Lu, Wei; Liu, Mengli; Li, Irene Ling; Zhang, Min; Zhang, Wenfei; Wang, Jinzhang; Xu, Zihan; Yan, Peiguang; Liu, Wenjun; Ruan, Shuangchen

    2017-12-01

    Transition metal dichalcogenides (TMDs) have been successfully used as broadband optical modulator materials for pulsed fiber laser systems. However, the nonlinear optical absorptions of exfoliated TMDs are strongly limited by their nanoflakes morphology with uncontrollable lateral size and thickness. In this work, we provide an effective method to fully explore the nonlinear optical properties of MoSe2. Large-area and high quality lattice MoSe2 grown by chemical vapor deposition method was adopted as an optical modulator for the first time. The large-area MoSe2 shows excellent nonlinear optical absorption with a large modulation depth of 21.7% and small saturable intensity of 9.4 MW cm-2. After incorporating the MoSe2 optical modulator into fiber laser cavity as a saturable absorber, a highly stable Q-switching operation with single pulse energy of 224 nJ is achieved. The large-area MoSe2 possessing superior nonlinear optical properties compared to exfoliated nanoflakes affords possibility for the larger-area two-dimensional materials family as high performance optical devices.

  8. An interictal schizophrenia-like psychosis in an adult patient with 22q11.2 deletion syndrome

    OpenAIRE

    Yasutaka Tastuzawa; Kanako Sekinaka; Tetsufumi Suda; Hiroshi Matsumoto; Hiroyuki Otabe; Shigeaki Nonoyama; Aihide Yoshino

    2015-01-01

    In addition to causing polymalformative syndrome, 22q11.2 deletion can lead to various neuropsychiatric disorders including mental retardation, psychosis, and epilepsy. However, few reports regarding epilepsy-related psychosis in 22q11.2 deletion syndrome (22q11.2DS) exist. We describe the clinical characteristics and course of 22q11.2DS in a Japanese patient with comorbid mild mental retardation, childhood-onset localization-related epilepsy, and adult-onset, interictal schizophrenia-like ps...

  9. Deuteron A(Q2) structure function and the neutron electric form factor

    International Nuclear Information System (INIS)

    Platchkov, S.; Amroun, A.; Auffret, S.; Cavedon, J.M.; Dreux, P.; Duclos, J.; Frois, B.; Goutte, D.; Hachemi, H.; Martino, J.

    1989-01-01

    We present new measurements of the deuteron A(Q 2 ) structure function in the momentum transfer region between 1 and 18 fm -2 . The accuracy of the data ranges from 2% to 6%. We investigate the sensitivity of A(Q 2 ) to the nucleon-nucleon interaction and to the neutron electric form factor G E n . Our analysis shows that below 20 fm -2 G E n can be inferred from these data with a significantly improved accuracy. The model dependence of this analysis is discussed

  10. Synthesis and characterization of a new photoluminescent material (8-hydroxy quinoline) bis (2-2'bipyridine) lanthanum La(Bpy)2q

    Science.gov (United States)

    Kumar, Rahul; Bhargava, Parag

    2016-05-01

    A new photoluminescence material, (8-hydroxy quinoline) bis (2-2'bipyridine) lanthanum has been synthesized and characterized by different techniques. The prepared material La(Bpy)2q was characterized for structural, thermal and photoluminescence analysis. Structural analysis of this material was done by Fourier transformed infrared spectroscopy (FTIR) and mass spectroscopy. Thermal analysis of this material was done by thermal gravimetric analysis (TGA) shows the thermal stability up to 190°C.Absorption and emission spectra of the material was measured by UV-visible spectroscopy and photoluminescence spectroscopy. Solution of this material La(Bpy)2q in ethanol showed absorption peak at 385nm, which may be attributed due to (π - π*) transitions. The photoluminescence spectra of La(Bpy)2q in ethanol solution showed intense peak at 490 nm

  11. 22q11.2 deletion syndrome lowers seizure threshold in adult patients without epilepsy.

    Science.gov (United States)

    Wither, Robert G; Borlot, Felippe; MacDonald, Alex; Butcher, Nancy J; Chow, Eva W C; Bassett, Anne S; Andrade, Danielle M

    2017-06-01

    Previous studies examining seizures in patients with 22q11.2 deletion syndrome (22q11.2DS) have focused primarily on children and adolescents. In this study we investigated the prevalence and characteristics of seizures and epilepsy in an adult 22q11.2DS population. The medical records of 202 adult patients with 22q11.2DS were retrospectively reviewed for documentation of seizures, electroencephalography (EEG) reports, and magnetic resonance imaging (MRI) findings. Epilepsy status was assigned in accordance with 2010 International League Against Epilepsy Classification. Of 202 patients, 32 (15.8%) had a documented history of seizure. Of these 32, 23 (71.8%) had acute symptomatic seizures, usually associated with hypocalcemia and/or antipsychotic or antidepressant use. Nine patients (9/32, 28%; 9/202, 4%) met diagnostic criteria for epilepsy. Two patients had genetic generalized epilepsy; two patients had focal seizures of unknown etiology; two had epilepsy due to malformations of cortical development; in two the epilepsy was due to acquired structural changes; and in one patient the epilepsy could not be further classified. Similarly to children, the prevalence of epilepsy and acute symptomatic seizures in adults with 22q11.2DS is higher than in the general population. Hypocalcemia continues to be a risk factor for adults, but differently from kids, the main cause of seizures in adults with 22q11.2DS is exposure to antipsychotics and antidepressants. Further prospective studies are warranted to investigate how 22q11.2 microdeletion leads to an overall decreased seizure threshold. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

  12. Multitasking Abilities in Adolescents With 22q11.2 Deletion Syndrome: Results From an Experimental Ecological Paradigm.

    Science.gov (United States)

    Schneider, Maude; Eliez, Stephan; Birr, Julie; Menghetti, Sarah; Debbané, Martin; Van der Linden, Martial

    2016-03-01

    The 22q11.2 deletion syndrome (22q11.2DS) is associated with cognitive and functional impairments and increased risk for schizophrenia. We characterized multitasking abilities of adolescents with 22q11.2DS using an experimental naturalistic setting and examined whether multitasking impairments were associated with real-world functioning and negative symptoms. Thirty-nine adolescents (19 with 22q11.2DS and 20 controls) underwent the Multitasking Evaluation for Adolescents. Real-world functioning and clinical symptoms were assessed in participants with 22q11.2DS. Adolescents with 22q11.2DS performed poorly in the multitasking evaluation. Our data also suggest that multitasking abilities are related to adaptive functioning in the practical domain and negative symptoms. This study shows that adolescents with 22q11.2DS are characterized by multitasking impairments, which may be relevant for several aspects of the clinical phenotype.

  13. Zero Action on Perfect Crystals for U_q(G_2^{(1}

    Directory of Open Access Journals (Sweden)

    Kailash C. Misra

    2010-03-01

    Full Text Available The actions of 0-Kashiwara operators on the U_q(G_2^{(1}-crystal B_l in [Yamane S., J. Algebra 210 (1998, 440-486] are made explicit by using a similarity technique from that of a U_q'(D_4^{(3}-crystal. It is shown that {B_l}_{l ≥ 1} forms a coherent family of perfect crystals.

  14. Theoretical investigations of the IO,{sup q+} (q = 2, 3, 4) multi-charged ions: Metastability, characterization and spectroscopy

    Energy Technology Data Exchange (ETDEWEB)

    Hammami, H. [Université Paris-Est, Laboratoire Modélisation et Simulation Multi Echelle, MSME UMR 8208 CNRS, 5 bd Descartes, 77454 Marne-la-Vallée (France); EMIR, Institut Préparatoire aux Etudes d’Ingénieurs, Monastir (Tunisia); Yazidi, O. [Laboratoire de Spectroscopie Atomique Moléculaire et Applications, Département de Physique, Faculté des Sciences de Tunis, Université de Tunis-El Manar, Le Belvédère, 1060 Tunis (Tunisia); Ben El Hadj Rhouma, M. [EMIR, Institut Préparatoire aux Etudes d’Ingénieurs, Monastir (Tunisia); Al Mogren, M. M. [Chemistry Department, Faculty of Science, King Saud University, PO Box 2455, Riyadh 11451 (Saudi Arabia); Hochlaf, M., E-mail: hochlaf@univ-mlv.fr [Université Paris-Est, Laboratoire Modélisation et Simulation Multi Echelle, MSME UMR 8208 CNRS, 5 bd Descartes, 77454 Marne-la-Vallée (France)

    2014-07-07

    Using ab initio methodology, we studied the IO{sup q+} (q = 2, 3, 4) multi-charged ions. Benchmark computations on the IO(X{sup 2}Π) neutral species allow validate the current procedure. For IO{sup 2+}, several potential wells were found on the ground and the electronic excited states potentials with potential barriers with respect to dissociation, where this dication can exist in the gas phase as long-lived metastable molecules. We confirm hence the recent observation of the dication by mass spectrometry. Moreover, we predict the existence of the metastable IO{sup 3+} trication, where a shallow potential well along the IO internuclear distance is computed. This potential well supports more than 10 vibrational levels. The IO{sup 3+} excited states are repulsive in nature, as well as the computed potentials for the IO{sup 4+} tetracation. For the bound states, we give a set of spectroscopic parameters including excitation transition energies, equilibrium distances, harmonic and anharmonic vibrational terms, and rotational constants. At the MRCI + Q/aug-cc-pV5Z(-PP) level, the adiabatic double and triple ionization energies of IO are computed to be ∼28.1 eV and ∼55.0 eV, respectively.

  15. Q QIAO

    Indian Academy of Sciences (India)

    Home; Journals; Bulletin of Materials Science. Q QIAO. Articles written in Bulletin of Materials Science. Volume 39 Issue 2 April 2016 pp 519-523. Effect of temperature on structure and corrosion resistance for electroless NiWP coating · M Q YU Q QIAO F YOU C L LI Y ZHAO Z Z XIAO H L LUO Z F XU KAZUHIRO MATSUGI ...

  16. Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures

    Directory of Open Access Journals (Sweden)

    Kesterson Robert A

    2003-04-01

    Full Text Available Abstract Background Chromosomal abnormalities affecting human chromosome 15q11-q13 underlie multiple genomic disorders caused by deletion, duplication and triplication of intervals in this region. These events are mediated by highly homologous segments of DNA, or duplicons, that facilitate mispairing and unequal cross-over in meiosis. The gene encoding an amyloid precursor protein-binding protein (APBA2 was previously mapped to the distal portion of the interval commonly deleted in Prader-Willi and Angelman syndromes and duplicated in cases of autism. Results We show that this gene actually maps to a more telomeric location and is partially duplicated within the broader region. Two highly homologous copies of an interval containing a large 5' exon and downstream sequence are located ~5 Mb distal to the intact locus. The duplicated copies, containing the first coding exon of APBA2, can be distinguished by single nucleotide sequence differences and are transcriptionally inactive. Adjacent to APBA2 maps a gene termed KIAA0574. The protein encoded by this gene is weakly homologous to a protein termed X123 that in turn maps adjacent to APBA1 on 9q21.12; APBA1 is highly homologous to APBA2 in the C-terminal region and is distinguished from APBA2 by the N-terminal region encoded by this duplicated exon. Conclusion The duplication of APBA2 sequences in this region adds to a complex picture of different low copy repeats present across this region and elsewhere on the chromosome.

  17. Generalized zeta function representation of groups and 2-dimensional topological Yang-Mills theory: The example of GL(2, #Mathematical Double-Struck Capital F#{sub q}) and PGL(2, #Mathematical Double-Struck Capital F#{sub q})

    Energy Technology Data Exchange (ETDEWEB)

    Roche, Ph., E-mail: philippe.roche@univ-montp2.fr [Université Montpellier 2, CNRS, L2C, IMAG, Montpellier (France)

    2016-03-15

    We recall the relation between zeta function representation of groups and two-dimensional topological Yang-Mills theory through Mednikh formula. We prove various generalisations of Mednikh formulas and define generalization of zeta function representations of groups. We compute some of these functions in the case of the finite group GL(2, #Mathematical Double-Struck Capital F#{sub q}) and PGL(2, #Mathematical Double-Struck Capital F#{sub q}). We recall the table characters of these groups for any q, compute the Frobenius-Schur indicator of their irreducible representations, and give the explicit structure of their fusion rings.

  18. 22q11.2 deletion carriers and schizophrenia-associated novel variants.

    Science.gov (United States)

    Balan, S; Iwayama, Y; Toyota, T; Toyoshima, M; Maekawa, M; Yoshikawa, T

    2014-01-01

    The penetrance of schizophrenia risk in carriers of the 22q11.2 deletion is high but incomplete, suggesting the possibility of additional genetic defects. We performed whole exome sequencing on two individuals with 22q11.2 deletion, one with schizophrenia and the other who was psychosis-free. The results revealed novel genetic variants related to neuronal function exclusively in the person with schizophrenia (frameshift: KAT8, APOH and SNX31; nonsense: EFCAB11 and CLVS2). This study paves the way towards a more complete understanding of variant dose and genetic architecture in schizophrenia.

  19. Measurement of the generalized polarizabilities of the proton in virtual Compton scattering at Q2=0.92 and 1.76 GeV2.

    Science.gov (United States)

    Laveissière, G; Todor, L; Degrande, N; Jaminion, S; Jutier, C; Di Salvo, R; Van Hoorebeke, L; Alexa, L C; Anderson, B D; Aniol, K A; Arundell, K; Audit, G; Auerbach, L; Baker, F T; Baylac, M; Berthot, J; Bertin, P Y; Bertozzi, W; Bimbot, L; Boeglin, W U; Brash, E J; Breton, V; Breuer, H; Burtin, E; Calarco, J R; Cardman, L S; Cavata, C; Chang, C-C; Chen, J-P; Chudakov, E; Cisbani, E; Dale, D S; de Jager, C W; De Leo, R; Deur, A; d'Hose, N; Dodge, G E; Domingo, J J; Elouadrhiri, L; Epstein, M B; Ewell, L A; Finn, J M; Fissum, K G; Fonvieille, H; Fournier, G; Frois, B; Frullani, S; Furget, C; Gao, H; Gao, J; Garibaldi, F; Gasparian, A; Gilad, S; Gilman, R; Glamazdin, A; Glashausser, C; Gomez, J; Gorbenko, V; Grenier, P; Guichon, P A M; Hansen, J O; Holmes, R; Holtrop, M; Howell, C; Huber, G M; Hyde-Wright, C E; Incerti, S; Iodice, M; Jardillier, J; Jones, M K; Kahl, W; Kato, S; Katramatou, A T; Kelly, J J; Kerhoas, S; Ketikyan, A; Khayat, M; Kino, K; Kox, S; Kramer, L H; Kumar, K S; Kumbartzki, G; Kuss, M; Leone, A; LeRose, J J; Liang, M; Lindgren, R A; Liyanage, N; Lolos, G J; Lourie, R W; Madey, R; Maeda, K; Malov, S; Manley, D M; Marchand, C; Marchand, D; Margaziotis, D J; Markowitz, P; Marroncle, J; Martino, J; McCormick, K; McIntyre, J; Mehrabyan, S; Merchez, F; Meziani, Z E; Michaels, R; Miller, G W; Mougey, J Y; Nanda, S K; Neyret, D; Offermann, E A J M; Papandreou, Z; Pasquini, B; Perdrisat, C F; Perrino, R; Petratos, G G; Platchkov, S; Pomatsalyuk, R; Prout, D L; Punjabi, V A; Pussieux, T; Quémenér, G; Ransome, R D; Ravel, O; Real, J S; Renard, F; Roblin, Y; Rowntree, D; Rutledge, G; Rutt, P M; Saha, A; Saito, T; Sarty, A J; Serdarevic, A; Smith, T; Smirnov, G; Soldi, K; Sorokin, P; Souder, P A; Suleiman, R; Templon, J A; Terasawa, T; Tieulent, R; Tomasi-Gustaffson, E; Tsubota, H; Ueno, H; Ulmer, P E; Urciuoli, G M; Vanderhaeghen, M; Van De Vyver, R; Van der Meer, R L J; Vernin, P; Vlahovic, B; Voskanyan, H; Voutier, E; Watson, J W; Weinstein, L B; Wijesooriya, K; Wilson, R; Wojtsekhowski, B B; Zainea, D G; Zhang, W-M; Zhao, J; Zhou, Z-L

    2004-09-17

    We report a virtual Compton scattering study of the proton at low c.m. energies. We have determined the structure functions P(LL)-P(TT)/epsilon and P(LT), and the electric and magnetic generalized polarizabilities (GPs) alpha(E)(Q2) and beta(M)(Q2) at momentum transfer Q(2)=0.92 and 1.76 GeV2. The electric GP shows a strong falloff with Q2, and its global behavior does not follow a simple dipole form. The magnetic GP shows a rise and then a falloff; this can be interpreted as the dominance of a long-distance diamagnetic pion cloud at low Q2, compensated at higher Q2 by a paramagnetic contribution from piN intermediate states.

  20. Transverse momentum of charged particles in low-Q{sup 2} DIS at HERA

    Energy Technology Data Exchange (ETDEWEB)

    Grebenyuk, Anastasia

    2012-04-15

    In this thesis, measurement of the transverse momentum and pseudorapidity distributions of charged particles in deep-inelastic ep scattering at a centre of mass energy of {radical}(s)=319 GeV are presented. The analysis is based on data collected by the H1 detector in 2006, corresponding to an integrated luminosity of 88.64 pb{sup -1}. The phase space of the measurement is defined by 5<Q{sup 2}<100 GeV{sup 2} and 0.05Q{sup 2}. The measured distributions are compared to predictions from different Monte Carlo generators using different approaches to simulate the parton cascade. The measurement shows the importance of parton emissions unordered in transverse momentum. A QCD model, exhibiting this feature, such as the BFKL-like colour dipole model is best in the description of the data, whereas a model generating emissions according to the DGLAP approach undershoots the data at low Bjorken-x. It is shown that the region of small transverse momenta is primarily affected by the hadronisation process, whereas the region of large transverse momenta is mainly driven by perturbative parton radiation. (orig.)

  1. Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

    Science.gov (United States)

    Mowat, D R; Croaker, G D; Cass, D T; Kerr, B A; Chaitow, J; Adès, L C; Chia, N L; Wilson, M J

    1998-01-01

    We have identified six children with a distinctive facial phenotype in association with mental retardation (MR), microcephaly, and short stature, four of whom presented with Hirschsprung (HSCR) disease in the neonatal period. HSCR was diagnosed in a further child at the age of 3 years after investigation for severe chronic constipation and another child, identified as sharing the same facial phenotype, had chronic constipation, but did not have HSCR. One of our patients has an interstitial deletion of chromosome 2, del(2)(q21q23). These children strongly resemble the patient reported by Lurie et al with HSCR and dysmorphic features associated with del(2)(q22q23). All patients have been isolated cases, suggesting a contiguous gene syndrome or a dominant single gene disorder involving a locus for HSCR located at 2q22-q23. Review of published reports suggests that there is significant phenotypic and genetic heterogeneity within the group of patients with HSCR, MR, and microcephaly. In particular, our patients appear to have a separate disorder from Goldberg-Shprintzen syndrome, for which autosomal recessive inheritance has been proposed because of sib recurrence and consanguinity in some families. Images PMID:9719364

  2. BFV-BRST analysis of the classical and quantum q-deformations of the sl(2) algebra

    International Nuclear Information System (INIS)

    Dayi, O.F.

    1993-01-01

    BFV-BRST charge for q-deformed algebras is not unique. Different constructions of it in the classical as well as in the quantum phase space for the q-deformed algebra sl q (2) are discussed. Moreover, deformation of the phase space without deforming the generators of sl(2) is considered. h -q-deformation of the phase space is shown to yield the Witten's second deformation. To study the BFV-BRST cohomology problem when both the quantum phase space and the group are deformed, a two parameter deformation of sl(2) is proposed, and its BFV-BRST charge is given. (author). 21 refs

  3. Neuropeptide Y receptor genes on human chromosome 4q31-q32 map to conserved linkage groups on mouse chromosomes 3 and 8

    Energy Technology Data Exchange (ETDEWEB)

    Lutz, C.M.; Frankel, W.N. [Jackson Lab., Bar Harbor, ME (United States); Richards, J.E. [Univ. of Michigan Medical School, Ann Arbor, MI (United States)] [and others

    1997-05-01

    Npy1r and Npy2r, the genes encoding mouse type 1 and type 2 neuropeptide Y receptors, have been mapped by interspecific backcross analysis. Previous studies have localized the human genes encoding these receptors to chromosome 4q31-q32. We have now assigned Npy1r and Npy2r to conserved linkage groups on mouse Chr 8 and Chr 3, respectively, which correspond to the distal region of human chromosome 4q. Using yeast artificial chromosomes, we have estimated the distance between the human genes to be approximately 6 cM. Although ancient tandem duplication events may account for some closely spaced G-protein-coupled receptor genes, the large genetic distance between the human type 1 and type 2 neuropeptide Y receptor genes raises questions about whether this mechanism accounts for their proximity. 20 refs., 1 fig.

  4. Possible Heavy Tetraquarks qQ(-q-Q), qq(-Q-Q) and qQ(-Q-Q)%可能的qQ(-q-Q),qq(-Q-Q)和qQ(-Q-Q)重四夸克态

    Institute of Scientific and Technical Information of China (English)

    崔莹; 陈晓林; 邓卫真; 朱世琳

    2007-01-01

    Assuming X(3872) is a qc-q-c tetraquark and using its mass as input, we perform a schematic study of the masses of possible heavy tetraquarks using the color-magnetic interaction with the flavor symmetry breaking corrections.%假设X(3872)是一个qc(-q-c)四夸克态,并用它的质量作为输入,用具有味对称性破坏的色磁相互作用系统研究了可能的重四夸克态的质量谱.

  5. Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome.

    Science.gov (United States)

    Rouleau, Etienne; Lefol, Cédrick; Bourdon, Violaine; Coulet, Florence; Noguchi, Tetsuro; Soubrier, Florent; Bièche, Ivan; Olschwang, Sylviane; Sobol, Hagay; Lidereau, Rosette

    2009-06-01

    Several techniques have been developed to screen mismatch repair (MMR) genes for deleterious mutations. Until now, two different techniques were required to screen for both point mutations and large rearrangements. For the first time, we propose a new approach, called "quantitative PCR (qPCR) high-resolution melting (HRM) curve analysis (qPCR-HRM)," which combines qPCR and HRM to obtain a rapid and cost-effective method suitable for testing a large series of samples. We designed PCR amplicons to scan the MLH1 gene using qPCR HRM. Seventy-six patients were fully scanned in replicate, including 14 wild-type patients and 62 patients with known mutations (57 point mutations and five rearrangements). To validate the detected mutations, we used sequencing and/or hybridization on a dedicated MLH1 array-comparative genomic hybridization (array-CGH). All point mutations and rearrangements detected by denaturing high-performance liquid chromatography (dHPLC)+multiplex ligation-dependent probe amplification (MLPA) were successfully detected by qPCR HRM. Three large rearrangements were characterized with the dedicated MLH1 array-CGH. One variant was detected with qPCR HRM in a wild-type patient and was located within the reverse primer. One variant was not detected with qPCR HRM or with dHPLC due to its proximity to a T-stretch. With qPCR HRM, prescreening for point mutations and large rearrangements are performed in one tube and in one step with a single machine, without the need for any automated sequencer in the prescreening process. In replicate, its reagent cost, sensitivity, and specificity are comparable to those of dHPLC+MLPA techniques. However, qPCR HRM outperformed the other techniques in terms of its rapidity and amount of data provided.

  6. Evidence for short range corelations from high Q2 (e,e') reactions

    International Nuclear Information System (INIS)

    Strikman, M.I.; Frankfurt, L.L.; Sargayan, M.M.

    1994-01-01

    For many years now short-range correlations (SRC) in nuclei have been considered as an essential feature of the nuclear wave function. At high energy (e,e') reactions, where Q 2 > 1 (GeV/c) 2 , x = Q 2 /2mq o > 1 and 1 GeV > q o > 300 ∼ 400 MeV the scattering from low momentum nucleons is kinematically suppressed and there the evidence of SRC expected to be more prominent. These reactions have been intensively investigated during the last decade or so at SLAC on both light and heavy nuclei. The above kinematics allows one to compute the cross section through the processes local in space. To explain this the authors analyse the representation of the cross section as a Fourier transform of the commutator of electromagnetic currents and see that the major contribution in the cross section is given by the region of integration

  7. Performance on a computerized neurocognitive battery in 22q11.2 deletion syndrome: A comparison between US and Israeli cohorts.

    Science.gov (United States)

    Yi, James J; Weinberger, Ronnie; Moore, Tyler M; Calkins, Monica E; Guri, Yael; McDonald-McGinn, Donna M; Zackai, Elaine H; Emanuel, Beverly S; Gur, Raquel E; Gothelf, Doron; Gur, Ruben C

    2016-07-01

    Increasingly, the effects of copy number variation (CNV) in the genome on brain function and behaviors are recognized as means to elucidate pathophysiology of psychiatric disorders. Such studies require large samples and we characterized the neurocognitive profile of two cohorts of individuals with 22q11.2 deletion syndrome (22q11DS), the most common CNV associated with schizophrenia, in an effort to harmonize phenotyping in multi-site global collaborations. The Penn Computerized Neurocognitive Battery (PCNB) was administered to individuals with 22q11DS in Philadelphia (PHL; n=155, aged 12-40) and Tel Aviv (TLV; n=59, aged 12-36). We examined effect sizes of performance differences between the cohorts and confirmed the factor structure of PCNB performance efficiency in the combined sample based on data from a large comparison community sample. The cohorts performed comparably with notable deficits in executive function, episodic memory and social cognition domains that were previously associated with abnormal neuroimaging findings in 22q11DS. In mixed model analysis, while there was a main effect for site for accuracy (number of correct response) and speed (time to correct response) independently, there were no main site effects for standardized efficiency (average of accuracy and speed). The fit of a structural model was excellent indicating that PCNB tests were related to the targeted cognitive domains. Thus, our results provide preliminary support for the use of the PCNB as an efficient tool for neurocognitive assessment in international 22q11DS collaborations. Copyright © 2016 Elsevier Inc. All rights reserved.

  8. The Development of Cognitive Control in Children with Chromosome 22q11.2 Deletion Syndrome

    Directory of Open Access Journals (Sweden)

    Heather M Shapiro

    2014-06-01

    Full Text Available Chromosome 22q11.2 Deletion Syndrome (22q11.2DS is caused by the most common human microdeletion, and it is associated with cognitive impairments across many domains. While impairments in cognitive control have been described in children with 22q11.2DS, the nature and development of these impairments are not clear. Children with 22q11.2DS and typically developing children (TD were tested on four well-validated tasks aimed at measuring specific foundational components of cognitive control: response inhibition, cognitive flexibility, and working memory. Molecular assays were also conducted in order to examine genotype of catechol-O-methyltransferase (COMT, a gene located within the deleted region in 22q11.2DS and hypothesized to play a role in cognitive control. Mixed model regression analyses were used to examine group differences, as well as age-related effects on cognitive control component processes in a cross-sectional analysis. Regression models with COMT genotype were also conducted in order to examine potential effects of the different variants of the gene. Response inhibition, cognitive flexibility, and working memory were impaired in children with 22q11.2DS relative to TD children, even after accounting for global intellectual functioning (as measured by full-scale IQ. When compared with TD individuals, children with 22q11.2DS demonstrated atypical age-related patterns of response inhibition and cognitive flexibility. Both groups demonstrated typical age-related associations with working memory. The results of this cross-sectional analysis suggest a specific aberration in the development of systems mediating response inhibition in a sub-set of children with 22q11.2DS. It will be important to follow up with longitudinal analyses to directly examine these developmental trajectories, and correlate neurocognitive variables with clinical and adaptive outcome measures.

  9. Molecular genetic characterization of a prenatally detected de novo interstitial deletion of chromosome 2q (2q31.1-q32.1 encompassing HOXD13, ZNF385B and ZNF804A associated with syndactyly and increased first-trimester nuchal translucency

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2017-06-01

    Conclusion: Fetuses with an interstitial deletion of 2q31.1-q32.1 may be associated with increased first-trimester NT. Haploinsufficiency of HOXD13 is associated with syndactyly. Genomic microarray is useful in detecting subtle chromosomal abnormalities in fetuses with increased NT and normal karyotype.

  10. Graves disease and IgA deficiency as manifestations of 22q11.2 deletion syndrome:

    OpenAIRE

    Silva, João Miguel de Almeida; Silva, Cecília Pereira; Melo, Flavio Fernando Nogueira de; Silva, Luis Alberto A.; Utagawa, Claudia Yamada

    2010-01-01

    A síndrome de deleção 22q11.2 (SD22q11.2) está associada à alta variabilidade fenotípica, abrangendo o espectro velocardiofacial/síndrome de DiGeorge. Manifestações autoimunes, endocrinológicas e de imunodeficiência vêm sendo relatadas associadas à síndrome. O objetivo deste estudo foi relatar um caso de SD22q11.2 associado à deficiência de IgA e à doença de Graves e rever a literatura visando verificar a frequência dessas alterações na SD22q11.2. Os distúrbios autoimunes, cada vez mais relac...

  11. Measurement of Inclusive Jet Production in Deep-Inelastic Scattering at High Q$^{2}$ and Determination of the Strong Coupling

    CERN Document Server

    Aktas, A.; Andreev, V.; Anthonis, T.; Antunovic, B.; Aplin, S.; Asmone, A.; Astvatsatourov, A.; Backovic, S.; Baghdasaryan, A.; Baranov, P.; Barrelet, E.; Bartel, W.; Baudrand, S.; Beckingham, M.; Begzsuren, K.; Behnke, O.; Behrendt, O.; Belousov, A.; Berger, N.; Bizot, J.C.; Boenig, M.-O.; Boudry, V.; Bozovic-Jelisavcic, I.; Bracinik, J.; Brandt, G.; Brinkmann, M.; Brisson, V.; Bruncko, D.; Busser, F.W.; Bunyatyan, A.; Buschhorn, G.; Bystritskaya, L.; Campbell, A.J.; Cantun Avila, K.B.; Cassol-Brunner, F.; Cerny, K.; Cerny, V.; Chekelian, V.; Cholewa, A.; Contreras, J.G.; Coughlan, J.A.; Cozzika, G.; Cvach, J.; Dainton, J.B.; Daum, K.; Deak, M.; de Boer, Y.; Delcourt, B.; Del Degan, M.; Delvax, J.; De Roeck, A.; De Wolf, E.A.; Diaconu, C.; Dodonov, V.; Dubak, A.; Eckerlin, Guenter; Efremenko, V.; Egli, S.; Eichler, R.; Eisele, F.; Eliseev, A.; Elsen, E.; Essenov, S.; Falkiewicz, A.; Faulkner, P.J.W.; Favart, L.; Fedotov, A.; Felst, R.; Feltesse, J.; Ferencei, J.; Finke, L.; Fleischer, M.; Fomenko, A.; Franke, G.; Frisson, T.; Gabathuler, E.; Gayler, J.; Ghazaryan, Samvel; Ginzburgskaya, S.; Glazov, A.; Glushkov, I.; Goerlich, L.; Goettlich, M.; Gogitidze, N.; Gorbounov, S.; Gouzevitch, M.; Grab, C.; Greenshaw, T.; Grell, B.R.; Grindhammer, G.; Habib, S.; Haidt, D.; Hansson, M.; Heinzelmann, G.; Helebrant, C.; Henderson, R.C.W.; Henschel, H.; Herrera, G.; Hildebrandt, M.; Hiller, K.H.; Hoffmann, D.; Horisberger, R.; Hovhannisyan, A.; Hreus, T.; Jacquet, M.; Janssen, M.E.; Janssen, X.; Jemanov, V.; Jonsson, L.; Johnson, D.P.; Jung, Andreas Werner; Jung, H.; Kapichine, M.; Katzy, J.; Kenyon, I.R.; Kiesling, Christian M.; Klein, M.; Kleinwort, C.; Klimkovich, T.; Kluge, T.; Knutsson, A.; Korbel, V.; Kostka, P.; Kraemer, M.; Krastev, K.; Kretzschmar, J.; Kropivnitskaya, A.; Kruger, K.; Landon, M.P.J.; Lange, W.; Lastovicka-Medin, G.; Laycock, P.; Lebedev, A.; Leibenguth, G.; Lendermann, V.; Levonian, S.; Li, G.; Lindfeld, L.; Lipka, K.; Liptaj, A.; List, B.; List, J.; Loktionova, N.; Lopez-Fernandez, R.; Lubimov, V.; Lucaci-Timoce, A.-I.; Lytkin, L.; Makankine, A.; Malinovski, E.; Marage, P.; Marti, Ll.; Martisikova, M.; Martyn, H.-U.; Maxfield, S.J.; Mehta, A.; Meier, K.; Meyer, A.B.; Meyer, H.; Meyer, J.; Michels, V.; Mikocki, S.; Milcewicz-Mika, I.; Mohamed, A.; Moreau, F.; Morozov, A.; Morris, J.V.; Mozer, Matthias Ulrich; Muller, K.; Murin, P.; Nankov, K.; Naroska, B.; Naumann, Th.; Newman, Paul R.; Niebuhr, C.; Nikiforov, A.; Nowak, G.; Nowak, K.; Nozicka, M.; Oganezov, R.; Olivier, B.; Olsson, J.E.; Osman, S.; Ozerov, D.; Palichik, V.; Panagoulias, I.; Pandurovic, M.; Papadopoulou, Th.; Pascaud, C.; Patel, G.D.; Peng, H.; Perez, E.; Perez-Astudillo, D.; Perieanu, A.; Petrukhin, A.; Picuric, I.; Piec, S.; Pitzl, D.; Placakyte, R.; Polifka, R.; Povh, B.; Preda, T.; Prideaux, P.; Radescu, V.; Rahmat, A.J.; Raicevic, N.; Ravdandorj, T.; Reimer, P.; Risler, C.; Rizvi, E.; Robmann, P.; Roland, B.; Roosen, R.; Rostovtsev, A.; Rurikova, Z.; Rusakov, S.; Salvaire, F.; Sankey, D.P.C.; Sauter, M.; Sauvan, E.; Schmidt, S.; Schmitt, S.; Schmitz, C.; Schoeffel, L.; Schoning, A.; Schultz-Coulon, H.-C.; Sefkow, F.; Shaw-West, R.N.; Sheviakov, I.; Shtarkov, L.N.; Sloan, T.; Smiljanic, Ivan; Smirnov, P.; Soloviev, Y.; South, D.; Spaskov, V.; Specka, Arnd E.; Staykova, Z.; Steder, M.; Stella, B.; Stiewe, J.; Straumann, U.; Sunar, D.; Sykora, T.; Tchoulakov, V.; Thompson, G.; Thompson, P.D.; Toll, T.; Tomasz, F.; Tran, T.H.; Traynor, D.; Trinh, T.N.; Truol, P.; Tsakov, I.; Tseepeldorj, B.; Tsipolitis, G.; Tsurin, I.; Turnau, J.; Tzamariudaki, E.; Urban, K.; Utkin, D.; Valkarova, A.; Vallee, C.; Van Mechelen, P.; Vargas Trevino, A.; Vazdik, Y.; Vinokurova, S.; Volchinski, V.; Weber, G.; Weber, R.; Wegener, D.; Werner, C.; Wessels, M.; Wissing, Ch.; Wolf, R.; Wunsch, E.; Xella, S.; Yan, W.; Yeganov, V.; Zacek, J.; Zalesak, J.; Zhang, Z.; Zhelezov, A.; Zhokin, A.; Zhu, Y.C.; Zimmermann, T.; Zohrabyan, H.; Zomer, F.

    2007-01-01

    Inclusive jet production is studied in neutral current deep-inelastic positron-proton scattering at large four momentum transfer squared Q^2>150 GeV^2 with the H1 detector at HERA. Single and double differential inclusive jet cross sections are measured as a function of Q^2 and of the transverse energy E_T of the jets in the Breit frame. The measurements are found to be well described by calculations at next-to-leading order in perturbative QCD. The running of the strong coupling is demonstrated and the value of alpha_s(M_Z) is determined. The ratio of the inclusive jet cross section to the inclusive neutral current cross section is also measured and used to extract a precise value for alpha_s(M_Z)=0.1193+/-0.0014(exp.)^{+0.0047}_{-0.0030}(th.)+/-0.0016(pdf).

  12. Estimating q-hat in Quenched Lattice SU(2) Gauge Theory

    International Nuclear Information System (INIS)

    Majumder, Abhijit

    2013-01-01

    The propagation of a virtual quark in a thermal medium is considered. The non-perturbative jet transport coefficient q -hat is estimated in quark less SU(2) lattice gauge theory. The light like correlator which defines q -hat , defined in the regime where the jet has small virtuality compared to its energy, is analytically related to a series of local operators in the deep Euclidean region, where the jet's virtuality is of the same order as its energy. It is demonstrated that in this region, for temperatures in the range of T=400–600 MeV, and for jet energies above 20 GeV, the leading term in the series is dominant over the next-to-leading term and thus yields an estimate of the value of q -hat . In these proceedings we discuss the details of the numerical calculation

  13. An interictal schizophrenia-like psychosis in an adult patient with 22q11.2 deletion syndrome

    Directory of Open Access Journals (Sweden)

    Yasutaka Tastuzawa

    2015-01-01

    Full Text Available In addition to causing polymalformative syndrome, 22q11.2 deletion can lead to various neuropsychiatric disorders including mental retardation, psychosis, and epilepsy. However, few reports regarding epilepsy-related psychosis in 22q11.2 deletion syndrome (22q11.2DS exist. We describe the clinical characteristics and course of 22q11.2DS in a Japanese patient with comorbid mild mental retardation, childhood-onset localization-related epilepsy, and adult-onset, interictal schizophrenia-like psychosis. From a diagnostic viewpoint, early detection of impaired intellectual functioning and hyperprolinemia in patients with epilepsy with 22q11.2DS may be helpful in predicting the developmental timing of interictal psychosis. From a therapeutic viewpoint, special attention needs to be paid to phenytoin-induced hypocalcemia in this syndrome.

  14. Group Delay of High Q Antennas

    DEFF Research Database (Denmark)

    Bahramzy, Pevand; Pedersen, Gert Frølund

    2013-01-01

    Group Delay variations versus frequency is an essential factor which can cause distortion and degradation in the signals. Usually this is an issue in wideband communication systems, such as satellite communication systems, which are used for transmitting wideband data. However, group delay can also...... become an issue, when working with high Q antennas, because of the steep phase shift over the frequency. In this paper, it is measured how large group delay variations can become, when going from a low Q antenna to a high Q antenna. The group delay of a low Q antenna is shown to be around 1.3 ns, whereas...... a high Q antenna has group delay of around 22 ns. It is due to this huge group delay variation characteristics of high Q antennas, that signal distortion might occur in the radio system with high Q antennas....

  15. A Meteorite Dropping Superbolide from the Catastrophycally Disrupted Comet C1919Q2 Metcalf: A Pathway for Meteorites from Jupiter Family Comets

    Science.gov (United States)

    Trigo-Rodríguez, J. M.; Madiedo, J. M.; Williams, I. P.; Castro-Tirado, A. J.; Llorca, J.; Vítek, S.; Jelínek, M.

    2009-03-01

    A meter-sized meteoroid probably produced during the disintegration of comet C1919Q2 Metcalf was observed producing a -18 magn. bolide (MNRAS, in press).The progenitor meteoroid was sufficiently large and of high enough tensile strength to produce meteorites.

  16. Effect of NN correlations on predictions of nuclear transparencies for protons, knocked out in high Q2 (e,e'p) reactions

    International Nuclear Information System (INIS)

    Rinat, A.S.; Taragin, M.F.

    1996-01-01

    We study the transparency T of nuclei for nucleons knocked out in high-energy semi-inclusive (e,e'p) reactions, using an improved theoretical input, discussed by Nikolaev et al. We establish that neglect of NN correlations between the knocked-out and core nucleons reduces nuclear transparencies by ∼15 % for light, to ∼10% for heavy nuclei. About the same is predicted for transparencies, integrated over the transverse or longitudinal momentum of the outgoing proton. Hadron dynamics predicts a roughly constant T beyond Q 22 GeV 2 , whereas for all targets the largest measured data point Q 2 =6.7 GeV 2 appears to lie above that plateau. Large error bars on those data points preclude a conclusion regarding the onset of colour transparency. (orig.)

  17. Subthreshold social cognitive deficits may be a key to distinguish 22q11.2DS from schizophrenia.

    Science.gov (United States)

    Peyroux, Elodie; Rigard, Caroline; Saucourt, Guillaume; Poisson, Alice; Plasse, Julien; Franck, Nicolas; Demily, Caroline

    2018-03-25

    Social cognitive impairments are core features in 22q11.2 deletion syndrome (22q11.2DS) and schizophrenia (SCZ). Indeed, adults with 22q.11.2 DS often have poorer social competence as well as poorer performance on measures of social cognitive skills (emotion recognition and theory of mind, ToM) compared with typically developing people. However, studies comparing specific social cognitive components in 22q11.2DS and SCZ have not yet been widely conducted. In this study we compared performances of 22q11.2DS and SCZ on both facial emotion recognition and ToM. Patients with 22q11.2DS (n = 18) and matched SCZ patients were recruited. After neuropsychological testing, the facial emotion recognition test assessed the patients' ability to recognize six basic, universal emotions (joy, anger, sadness, fear, disgust, and contempt). The Versailles-situational intentional reading evaluated ToM with six scenes from movies showing characters in complex interactions (involving hints, lies, and indirect speech). We show that 22q11.2DS exhibited significantly lower performance in emotion recognition than SCZ patients did, especially for disgust, contempt, and fear. This impairment seems to be a core cognitive phenotype in 22q11.2DS, regardless of the presence of SCZ symptoms. Concerning ToM, our results may highlight the same impairment level in 22q11.2DS and SCZ but require to be replicated in a larger cohort. Our results document the existence of threshold social cognitive deficits distinguishing 22q11.2DS from SCZ. © 2018 John Wiley & Sons Australia, Ltd.

  18. Electroproduction of Φ(1020) Mesons at High Q2 with CLAS

    Energy Technology Data Exchange (ETDEWEB)

    Santoro, Joseph P. [Virginia Polytechnic Inst. and State Univ. (Virginia Tech), Blacksburg, VA (United States)

    2007-10-11

    This analysis studies the reaction ep → e'p'φ in the kinematical range 1.6 ≤ Q2 ≤ 3.8 GeV2 and 2.0 ≤ W ≤ 3.0 GeV at CLAS. After successful signal identification, total and differential cross sections are measured and compared to the world data set. Comparisons are made to the predictions of the Jean-Mart Laget (JML) model based on Pomeron plus 2-gluon exchange. The overall scaling of the total cross section was determined to be 1/Q4.6+/-1.7 which is compatible within errors to the Vector Meson Dominance prediction of 1/ Q4 as well as to the expected behavior of a quark and gluon exchange-dominated model described by Generalized Parton Distributions of 1/Q6. The differential cross section dσ/dΦ was used to determine that the s-channel helicity conservation (SCHC) assumption is valid within the precision of the current data. SCHC leads to a simple expression for the decay angular distribution from which R, the ratio of the longitudinal to the transverse cross section, can be extracted. Under the assumption of SCHC, we determine R = 1.33 ± 0.18 at an average Q2 of 2.21 GeV2 which leads to a determination of the longitudinal cross section sL = 5.3 ± 1.3 nb for exclusive φ production.

  19. Speech and language abilities of children with the familial form of 22q11.2 deletion syndrome

    Directory of Open Access Journals (Sweden)

    Rakonjac Marijana

    2016-01-01

    Full Text Available The 22q11.2 Deletion Syndrome (22q11.2DS, which encompasses Shprintzen syndrome, DiGeorge and velocardiofacial syndrome, is the most common microdeletion syndrome in humans with an estimated incidence of approximately 1/4000 per live births. After Down syndrome, it is the second most common genetic syndrome associated with congenital heart malformations. The mode of inheritance of the 22q11.2DS is autosomal dominant. In approximately 72 - 94% of the cases the deletion has occurred de novo, while in 6 to 28% of patients deletion was inherited from a parent. As a part of a multidisciplinary study we examined the speech and language abilities of members of two families with inherited form of 22q11.2DS. The presence of 22q11.2 microdeletion was revealed by fluorescence in situ hybridization (FISH and/or multiplex ligation-dependent probe amplification (MLPA. In one family we detected 1.5 Mb 22q11.2 microdeletion, while in the other family we found 3Mb microdeletion. Patients from both families showed delays in cognitive, socio-emotional, speech and language development. Furthermore, we found considerable variability in the phenotypic characteristics of 22q11.2DS and the degree of speech-language pathology not only between different families with 22q11.2 deletion, but also among members of the same family. In addition, we detected no correlation between the phenotype and the size of 22q11.2 microdeletion.

  20. MicroRNA Dysregulation, Gene Networks, and Risk for Schizophrenia in 22q11.2 Deletion Syndrome

    Science.gov (United States)

    Merico, Daniele; Costain, Gregory; Butcher, Nancy J.; Warnica, William; Ogura, Lucas; Alfred, Simon E.; Brzustowicz, Linda M.; Bassett, Anne S.

    2014-01-01

    The role of microRNAs (miRNAs) in the etiology of schizophrenia is increasingly recognized. Microdeletions at chromosome 22q11.2 are recurrent structural variants that impart a high risk for schizophrenia and are found in up to 1% of all patients with schizophrenia. The 22q11.2 deletion region overlaps gene DGCR8, encoding a subunit of the miRNA microprocessor complex. We identified miRNAs overlapped by the 22q11.2 microdeletion and for the first time investigated their predicted target genes, and those implicated by DGCR8, to identify targets that may be involved in the risk for schizophrenia. The 22q11.2 region encompasses seven validated or putative miRNA genes. Employing two standard prediction tools, we generated sets of predicted target genes. Functional enrichment profiles of the 22q11.2 region miRNA target genes suggested a role in neuronal processes and broader developmental pathways. We then constructed a protein interaction network of schizophrenia candidate genes and interaction partners relevant to brain function, independent of the 22q11.2 region miRNA mechanisms. We found that the predicted gene targets of the 22q11.2 deletion miRNAs, and targets of the genome-wide miRNAs predicted to be dysregulated by DGCR8 hemizygosity, were significantly represented in this schizophrenia network. The findings provide new insights into the pathway from 22q11.2 deletion to expression of schizophrenia, and suggest that hemizygosity of the 22q11.2 region may have downstream effects implicating genes elsewhere in the genome that are relevant to the general schizophrenia population. These data also provide further support for the notion that robust genetic findings in schizophrenia may converge on a reasonable number of final pathways. PMID:25484875

  1. Assignment of FUT8 to chicken chromosome band 5q1.4 and to human chromosome 14q23.2-->q24.1 by in situ hybridization. Conserved and compared synteny between human and chicken

    NARCIS (Netherlands)

    Coullin, Ph.; Crooijmans, R.P.M.A.; Groenen, M.A.M.; Heilig, R.; Mollicone, R.; Oriol, R.; Candelier, J.J.

    2002-01-01

    The human FUT8 gene is implicated in crucial developmental stages and is overexpressed in some tumors and other malignant diseases. Based on three different experiments we have assigned the FUT8 gene to chromosome bands 14q23.2 --> q24.1 and not 14q24.3 as previously shown (Yamaguchi et al.,

  2. Identification of a rare de novo three-way complex t(5;20;8(q31;p11.2;p21 with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report

    Directory of Open Access Journals (Sweden)

    Bejjani Bassem A

    2009-01-01

    Full Text Available Abstract Background Complex chromosome rearrangements (CCRs, which involve more than two breakpoints on two or more chromosomes, are uncommon occurrences. Although most CCRs appear balanced at the level of the light microscope, many demonstrate cryptic, submicroscopic imbalances at the translocation breakpoints. Results We report a female with hearing loss and global developmental delay with a complex three-way unbalanced translocation (5;20;8(q31;p11.2;p21 resulting in microdeletions on 5q31.2, 5q31.3, and 8p23.2 identified by karyotyping, microarray analysis and fluorescence in situ hybridization. Discussion The microdeletion of bands 8p23.2 may be associated with the hearing impairment. Furthermore, the characterization of this patient's chromosomal abnormalities demonstrates the importance of integrated technologies within contemporary cytogenetics laboratories.

  3. Q-phonons, Q-invariants, and company

    International Nuclear Information System (INIS)

    Brentano, P. von; Gade, A.; Pietralla, N.; Werner, V.

    2002-01-01

    The paper discusses the concept of Q-phonons and its connection to the concept of Q-invariants and the shape parameters of nuclei. It will also discuss some useful relations between Q-invariants and observables. These relations allow one to determine crucial nuclear observables such as the square of the quadrupole moment of the first 2+ state from lifetime data of the gamma- and ground band which may have applications, in future measurements with rare isotopes beams. These concepts are discussed for the Barium, Xenon and Cerium nuclei with mass numbers around A = 130, because some of these concepts were either introduced or at least heavily used in the discussion of the nuclear structure of these nuclei

  4. Two girls with a de novo Xq rearrangement of paternal origin: t(X;9(q24;q12 or rea(Xdup q

    Directory of Open Access Journals (Sweden)

    Ana I. Vásquez-Velásquez

    2016-04-01

    Full Text Available Objective: We report on two rare Xq rearrangements, namely a t(X;9(q24;q12 found in a mildly-affected girl (Patient 1 and a rea(Xdup q concomitant with a rob(14;21mat in a Down syndrome girl (Patient 2. Case report: Both rearrangements were characterized by banding techniques [Giemsa (G, constitutive heterochromatin (C, and bromodeoxyuridine (BrdU pulse], fluorescence in situ hybridization (FISH assays, human androgen receptor (HUMAR assays, and microarray analyses. Patient 1 had a t(X;9(q24;q12dn. Patient 2 had a de novo rea(X(qter→q23 or q24::p11.2→qter concomitant with an unbalanced rob(14;21mat. X-Inactivation studies in metaphases and DNA revealed a fully skewed inactivation: the normal homolog was silenced in Patient 1 and the rea(X in Patient 2. Both rearranged X chromosomes were of paternal descent. Microarray analyses revealed no imbalances in Patient 1 whereas loss of Xp (∼52 Mb and duplication of Xq (∼44 Mb and 21q were confirmed in Patient 2. Conclusion: Our observations further document the cytogenetic heterogeneity and predominant paternal origin of certain de novo X-chromosome rearrangements.

  5. Chemical failure modes of AlQ3-based OLEDs: AlQ3 hydrolysis.

    Science.gov (United States)

    Knox, John E; Halls, Mathew D; Hratchian, Hrant P; Schlegel, H Bernhard

    2006-03-28

    Tris(8-hydroxyquinoline)aluminum(III), AlQ3, is used in organic light-emitting diodes (OLEDs) as an electron-transport material and emitting layer. The reaction of AlQ3 with trace H2O has been implicated as a major failure pathway for AlQ3-based OLEDs. Hybrid density functional calculations have been carried out to characterize the hydrolysis of AlQ3. The thermochemical and atomistic details for this important reaction are reported for both the neutral and oxidized AlQ3/AlQ3+ systems. In support of experimental conclusions, the neutral hydrolysis reaction pathway is found to be a thermally activated process, having a classical barrier height of 24.2 kcal mol(-1). First-principles infrared and electronic absorption spectra are compared to further characterize AlQ3 and the hydrolysis pathway product, AlQ2OH. The activation energy for the cationic AlQ3 hydrolysis pathway is found to be 8.5 kcal mol(-1) lower than for the neutral reaction, which is significant since it suggests a role for charge imbalance in promoting chemical failure modes in OLED devices.

  6. Synthesis and characterization of a new photoluminescent material (8-hydroxy quinoline) bis (2-2’bipyridine) lanthanum La(Bpy)2q

    International Nuclear Information System (INIS)

    Kumar, Rahul; Bhargava, Parag

    2016-01-01

    A new photoluminescence material, (8-hydroxy quinoline) bis (2-2’bipyridine) lanthanum has been synthesized and characterized by different techniques. The prepared material La(Bpy) 2 q was characterized for structural, thermal and photoluminescence analysis. Structural analysis of this material was done by Fourier transformed infrared spectroscopy (FTIR) and mass spectroscopy. Thermal analysis of this material was done by thermal gravimetric analysis (TGA) shows the thermal stability up to 190°C.Absorption and emission spectra of the material was measured by UV-visible spectroscopy and photoluminescence spectroscopy. Solution of this material La(Bpy) 2 q in ethanol showed absorption peak at 385nm, which may be attributed due to (π – π*) transitions. The photoluminescence spectra of La(Bpy) 2 q in ethanol solution showed intense peak at 490 nm

  7. Mid-infrared source with 0.2 J pulse energy based on nonlinear conversion of Q-switched pulses in ZnGeP2.

    Science.gov (United States)

    Haakestad, Magnus W; Fonnum, Helge; Lippert, Espen

    2014-04-07

    Mid-infrared (3-5 μm) pulses with high energy are produced using nonlinear conversion in a ZnGeP(2)-based master oscillator-power amplifier, pumped by a Q-switched cryogenic Ho:YLF oscillator. The master oscillator is based on an optical parametric oscillator with a V-shaped 3-mirror ring resonator, and the power amplifier is based on optical parametric amplification in large-aperture ZnGeP(2) crystals. Pulses with up to 212 mJ energy at 1 Hz repetition rate are obtained, with FWHM duration 15 ns and beam quality M(2) = 3.

  8. Development of Structural Covariance From Childhood to Adolescence: A Longitudinal Study in 22q11.2DS

    Directory of Open Access Journals (Sweden)

    Corrado Sandini

    2018-05-01

    Full Text Available Background: Schizophrenia is currently considered a neurodevelopmental disorder of connectivity. Still few studies have investigated how brain networks develop in children and adolescents who are at risk for developing psychosis. 22q11.2 Deletion Syndrome (22q11DS offers a unique opportunity to investigate the pathogenesis of schizophrenia from a neurodevelopmental perspective. Structural covariance (SC is a powerful approach to explore morphometric relations between brain regions that can furthermore detect biomarkers of psychosis, both in 22q11DS and in the general population.Methods: Here we implement a state-of-the-art sliding-window approach to characterize maturation of SC network architecture in a large longitudinal cohort of patients with 22q11DS (110 with 221 visits and healthy controls (117 with 211 visits. We furthermore propose a new clustering-based approach to group regions according to trajectories of structural connectivity maturation. We correlate measures of SC with development of working memory, a core executive function that is highly affected in both idiopathic psychosis and 22q11DS. Finally, in 22q11DS we explore correlations between SC dysconnectivity and severity of internalizing psychopathology.Results: In HCs network architecture underwent a quadratic developmental trajectory maturing up to mid-adolescence. Late-childhood maturation was particularly evident for fronto-parietal cortices, while Default-Mode-Network-related regions showed a more protracted linear development. Working memory performance was positively correlated with network segregation and fronto-parietal connectivity. In 22q11DS, we demonstrate aberrant maturation of SC with disturbed architecture selectively emerging during adolescence and correlating more severe internalizing psychopathology. Patients also presented a lack of typical network development during late-childhood, that was particularly prominent for frontal connectivity.Conclusions: Our

  9. Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes

    DEFF Research Database (Denmark)

    Delio, Maria; Guo, Tingwei; McDonald-McGinn, Donna M

    2013-01-01

    Velocardiofacial and DiGeorge syndromes, also known as 22q11.2 deletion syndrome (22q11DS), are congenital-anomaly disorders caused by a de novo hemizygous 22q11.2 deletion mediated by meiotic nonallelic homologous recombination events between low-copy repeats, also known as segmental duplication...

  10. Prevalence and Nature of Hearing Loss in 22q11.2 Deletion Syndrome

    Science.gov (United States)

    Van Eynde, Charlotte; Swillen, Ann; Lambeens, Elien; Verhaert, Nicolas; Desloovere, Christian; Luts, Heleen; Vander Poorten, Vincent; Devriendt, Koenraad; Hens, Greet

    2016-01-01

    Purpose: The purpose of this study was to clarify the prevalence, type, severity, and age-dependency of hearing loss in 22q11.2 deletion syndrome. Method: Extensive audiological measurements were conducted in 40 persons with proven 22q11.2 deletion (aged 6-36 years). Besides air and bone conduction thresholds in the frequency range between 0.125…

  11. The Electric Form Factor of the Neutron via Recoil Polarimetry to Q2 1.47 (GeV/c)2

    International Nuclear Information System (INIS)

    Bradley Plaster; Richard Madey; Andrei Semenov; Simon Taylor; Aram Aghalaryan; Erick Crouse; Glen MacLachlan; Shigeyuki Tajima; William Tireman; Chenyu Yan; Abdellah Ahmidouch; Brian Anderson; Hartmuth Arenhovel; Razmik Asaturyan; O. Baker; Alan Baldwin; Paul Brewer; Roger Carlini; Michael Christy; Steve Churchwell; Leon Cole; Samuel Danagoulian; Donal Day; Mostafa Elaasar; Rolf Ent; Manouchehr Farkhondeh; Howard Fenker; John Finn; Liping Gan; Kenneth Garrow; Calvin Howell; Paul Gueye; Bitao Hu; Mark Jones; James Kelly; Cynthia Keppel; Mahbubul Khandaker; Wooyoung Kim; Stanley Kowalski; Allison Lung; David Mack; D. Manley; Pete Markowitz; Tilmann Reichelt; Joerg Reinhold; Julie Roche; Yoshinori Sato; Irina Semenova; Wonick Seo; Neven Simicevic; Gregory Smith; Samuel Stepanyan; Vardan Tadevosyan; Liguang Tang; Paul Ulmer; William Vulcan; John Watson; Steven Wells; Frank Wesselmann; Stephen Wood; Chen Yan; Seunghoon Yang; Lulin Yuan; Wei-Ming Zhang; Hong Guo Zhu; Xiaofeng Zhu

    2003-01-01

    The Jefferson Laboratory E93-038 collaboration conducted measurements of the ratio of the electric form factor to the magnetic form factor of the neutron, G n E/G n M, via recoil polarimetry from the quasielastic 2 H((rvec e),e/(rvec n)) 1 H reaction at three values of Q 2 [viz., 0.45, 1.15, and 1.47 (GeV/c) 2 ] in Hall C of the Thomas Jefferson National Accelerator Facility. The preliminary results for G n E at Q 2 = 0.45 and 1.15 (GeV/c) 2 are consistent with the Galster parameterization; however, the preliminary result for G n E at Q 2 = 1.47 (GeV/c) 2 lies slightly above the Galster parameterization

  12. Determination of the Pion Charge Form Factor at Q2=1.60 and 2.45 (GeV/c)2

    International Nuclear Information System (INIS)

    Horn, T.; Beise, E. J.; Breuer, H.; Chang, C. C.; King, P. M.; Liu, J.; Roos, P. G.; Aniol, K.; Margaziotis, D. J.; Arrington, J.; Holt, R. J.; Potterveld, D.; Reimer, P.; Zheng, X.; Barrett, B.; Sarty, A.; Blok, H. P.; Tvaskis, V.; Boeglin, W.; Markowitz, P.

    2006-01-01

    The 1 H(e,e ' π + )n cross section was measured at four-momentum transfers of Q 2 =1.60 and 2.45 GeV 2 at an invariant mass of the photon nucleon system of W=2.22 GeV. The charged pion form factor (F π ) was extracted from the data by comparing the separated longitudinal pion electroproduction cross section to a Regge model prediction in which F π is a free parameter. The results indicate that the pion form factor deviates from the charge-radius constrained monopole form at these values of Q 2 by one sigma, but is still far from its perturbative quantum chromodynamics prediction

  13. Passive Fe2+ : ZnSe single-crystal Q switch for 3-mu m lasers

    NARCIS (Netherlands)

    Voronov, AA; Kozlovskii, [No Value; Korostelin, YV; Podmar'kov, YP; Polushkin, VG; Frolov, MP

    Passive Q-switching of 3-mu m lasers with the help of a Fe2+ : ZnSe single crystal is demonstrated. The 6-mJ, 50-ns giant pulses are obtained from a 2.9364-mu m Er : YAG laser by using this passive Q switch.

  14. Upper bounds on ε{sup ′}/ε parameters B{sub 6}{sup (1/2)} and B{sub 8}{sup (3/2)} from large N QCD and other news

    Energy Technology Data Exchange (ETDEWEB)

    Buras, Andrzej J. [TUM Institute for Advanced Study,Lichtenbergstr. 2a, D-85748 Garching (Germany); Physik Department, TU München,James-Franck-Straße, D-85748 Garching (Germany); Gérard, Jean-Marc [Centre for Cosmology, Particle Physics and Phenomenology (CP3),Université catholique de Louvain,Chemin du Cyclotron 2, B-1348 Louvain-la-Neuve (Belgium)

    2015-12-01

    We demonstrate that in the large N approach developed by the authors in collaboration with Bardeen, the parameters B{sub 6}{sup (1/2)} and B{sub 8}{sup (3/2)} parametrizing the K→ππ matrix elements 〈Q{sub 6}〉{sub 0} and 〈Q{sub 8}〉{sub 2} of the dominant QCD and electroweak operators receive both negativeO(1/N) corrections such that B{sub 6}{sup (1/2)}≤B{sub 8}{sup (3/2)}<1 in agreement with the recent lattice results of the RBC-UKQCD collaboration. We also point out that the pattern of the size of the hadronic matrix elements of all QCD and electroweak penguin operators Q{sub i} contributing to the K→ππ amplitudes A{sub 0} and A{sub 2}, obtained by this lattice collaboration, provides further support to our large N approach. In particular, the lattice result for the matrix element 〈Q{sub 8}〉{sub 0} implies for the corresponding parameter B{sub 8}{sup (1/2)}=1.0±0.2 to be compared with large N value B{sub 8}{sup (1/2)}=1.1±0.1. We discuss briefly the implications of these findings for the ratio ε{sup ′}/ε. In fact, with the precise value for B{sub 8}{sup (3/2)} from RBC-UKQCD collaboration, our upper bound on B{sub 6}{sup (1/2)} implies ε{sup ′}/ε in the SM roughly by a factor of two below its experimental value (16.6±2.3)×10{sup −4}. We also briefly comment on the parameter B̂{sub K} and the ΔI=1/2 rule.

  15. Synthesis and characterization of a new photoluminescent material (8-hydroxy quinoline) bis (2-2’bipyridine) lanthanum La(Bpy)2q

    Energy Technology Data Exchange (ETDEWEB)

    Kumar, Rahul, E-mail: id-kumarrahul003@gmail.com; Bhargava, Parag [Department of Metallurgical Engineering and Materials Science, Indian Institute of Technology-Bombay, Mumbai-400076 (India)

    2016-05-06

    A new photoluminescence material, (8-hydroxy quinoline) bis (2-2’bipyridine) lanthanum has been synthesized and characterized by different techniques. The prepared material La(Bpy){sub 2}q was characterized for structural, thermal and photoluminescence analysis. Structural analysis of this material was done by Fourier transformed infrared spectroscopy (FTIR) and mass spectroscopy. Thermal analysis of this material was done by thermal gravimetric analysis (TGA) shows the thermal stability up to 190°C.Absorption and emission spectra of the material was measured by UV-visible spectroscopy and photoluminescence spectroscopy. Solution of this material La(Bpy){sub 2}q in ethanol showed absorption peak at 385nm, which may be attributed due to (π – π*) transitions. The photoluminescence spectra of La(Bpy){sub 2}q in ethanol solution showed intense peak at 490 nm.

  16. Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q

    OpenAIRE

    Pieke-Dahl, S; Moller, C; Kelley, P; Astuto, L; Cremers, C; Gorin, M; Kimberling, W

    2000-01-01

    Usher syndrome is a group of autosomal recessive disorders that includes retinitis pigmentosa (RP) with hearing loss. Usher syndrome type II is defined as moderate to severe hearing loss with RP. The USH2A gene at 1q41 has been isolated and characterised. In 1993, a large Usher II family affected with a mild form of RP was found to be unlinked to 1q41 markers. Subsequent linkage studies of families in our Usher series identified several type II families unlinked to USH2A and USH3 on 3q25. Aft...

  17. Hadronic parity violation and inelastic electron-deuteron scattering

    International Nuclear Information System (INIS)

    Liu, C.-P.; Prezeau, G.; Ramsey-Musolf, M.J.

    2003-01-01

    We compute contributions to the parity-violating (PV) inelastic electron-deuteron scattering asymmetry arising from hadronic PV. While hadronic PV effects can be relatively important in PV threshold electrodisintegration, we find that they are highly suppressed at quasielastic kinematics. The interpretation of the PV quasielastic asymmetry is, thus, largely unaffected by hadronic PV

  18. The exponent λ (x,Q ) of the proton structure function F (x, Q ) at low ...

    Indian Academy of Sciences (India)

    from the gluon (g —q¯q) and so the contribution from the quark can be neglected. In the DGLAP formalism an approximate relationship can be obtained between the gluon momentum density G(x,Q2) and the logarithmic slope of the structure function F2(x,Q2). There are several such relations [6–8] available in the literature.

  19. Quasi quantum group covariant q-oscillators

    International Nuclear Information System (INIS)

    Schomerus, V.

    1992-05-01

    If q is a p-th root of unity there exists a quasi-co-associative truncated quantum group algebra U T q (sl 2 ) whose indecomposable representations are the physical representations of U q (sl 2 ), whose co-product yields the truneated tensor product of physical representations of U q (sl 2 ), and whose R-matrix satisfies quasi Yang Baxter equations. For primitive p-th roots q, we consider a 2-dimensional q-oscillator which admits U T q (sl 2 ) as a symmetry algebra. Its wave functions lie in a space F T q of 'functions on the truncated quantum plane', i.e. of polynomials in noncommuting complex coordinate functions z a , on which multiplication operators Z a and the elements of U T q (sl 2 ) can act. This illustrates the concept of quasi quantum planes. Due to the truncation, the Hilbert space of states is finite dimensional. The subspaces F T(n) of monomials in x a of n-th degree vanish for n ≥ p-1, and F T(n) carries the 2J+1 dimensional irreducible representation of U T q (sl 2 ) if n=2J, J=0, 1/2, ... 1/2(p-2). Partial derivatives δ a are introduced. We find a *-operation on the algebra of multiplication operators Z i and derivatives δ b such that the adjoints Z * a act as differentiation on the truncated quantum plane. Multiplication operators Z a ('creation operators') and their adjoints ('annihilation operators') obey q -1/2 -commutation relations. The *-operation is used to determine a positive definite scalar product on the truncated quantum plane F T q . Some natural candidates of Hamiltonians for the q-oscillators are determined. (orig./HSI)

  20. $q$-norms are really norms

    OpenAIRE

    Belbachir, H.; Mirzavaziri, M.; Moslehian, M. S.

    2005-01-01

    Replacing the triangle inequality, in the definition of a norm, by $|x + y| ^{q}\\leq 2^{q-1}(|x| ^{q} + |y| ^{q}) $, we introduce the notion of a q-norm. We establish that every q-norm is a norm in the usual sense, and that the converse is true as well.

  1. Fluency aspects of oral narrative task in del22q11.2 syndrome.

    Science.gov (United States)

    Santos, Amanda Oliveira; Rossi, Natalia Freitas; Tandel, Maria da Conceição Faria Freitas; Richieri-Costa, Antonio; Giacheti, Célia Maria

    2016-01-01

    To investigate the fluency aspects of the oral narrative task in individuals with del22q11.2 syndrome and compare them with those of individuals with typical language development. Fifteen individuals diagnosed with del22q11.2 syndrome, both genders, aged 7-17 years participated in this study. They were compared with 15 individuals with typical language development, with similar gender and chronological age profiles. The oral narrative was elicited using the book "Frog, Where Are You?", and the fluency aspects were analyzed according to speech rate and type and frequency of disfluency (typical and stuttering). The number and duration of pauses were also investigated. The data were statistically analyzed. The group with del22q11.2 syndrome showed a higher average when compared with the group without the syndrome for the percentage of typical disfluencies, mainly hesitation and revision. The group presenting the syndrome also showed a higher average for stuttering disfluencies, with pause as the most frequent disfluency. With respect to speech rate, the group with the syndrome presented a lower average for the number of words and syllables per minute. Individuals with del22q11.2 syndrome showed greater difficulties of narration than their peers. The fluency aspects of the oral narrative task in subjects with del22q11.2 syndrome were similar to those of individuals with typical language development regarding the presence of hesitation, revision, and pause, but they were different with respect to frequency of disfluency, which was higher in individuals with the syndrome.

  2. Measurement of charged and neutral current e-p deep inelastic scattering cross sections at high Q2

    International Nuclear Information System (INIS)

    Derrick, M.; Krakauer, D.; Magill, S.

    1995-03-01

    Deep inelastic e - p scattering has been studied in both the charged current (CC) and neutral current (NC) reactions at momentum transfers squared, Q 2 , between 400 GeV 2 and the kinematic limit of 87500 GeV 2 using the ZEUS detector at the HERA ep collider. The CC and NC total cross sections, the NC to CC cross section ratio, and the differential cross sections, dσ/dQ 2 , are presented. For Q 2 ∝M W 2 , where M W is the mass of the W boson, the CC and NC cross sections have comparable magnitudes, demonstrating the equal strengths of the weak and electromagnetic interactions at high Q 2 . The Q 2 dependence of the CC cross section determines the mass term in the CC propagator to be M W =76±16±13 GeV. (orig.)

  3. New infiniti Q45. Shingata Infiniti Q45'' ni tsuite

    Energy Technology Data Exchange (ETDEWEB)

    Oka, T.; Ochiai, A.; Kato, Y. (Nissan Motor Co. Ltd., Tokyo (Japan))

    1989-12-25

    This report introduces the concept for development and the outline of the Infiniti Q45, a new luxury sedan Nissan has developed, and special activities Nissan makes to produce luxury cars. This sedan was developed with the concept of producing a large-sized luxury car of evidently Japanese make to earn the world appraisal; a touring saloon whose style is original and unique based on the sensitivity of Japanese and yet which has the performance of a sports car. Every part of the Infiniti Q45, from the V8 engine and the 4.5 L DOHC 32 valve engine to the hydraulic active suspension, the first to be loaded on a mass production car, features Nissan's innovative and leading-edge technology. Moreover, to provide maximum customer satisfaction in every scene from the purchase of a car to services, various constructive programs have been adopted with the key word, Total Ownership Experience. 8 figs., 2 tabs.

  4. q-Power function over q-commuting variables and deformed XXX, XXZ chains

    International Nuclear Information System (INIS)

    Khoroshkin, S.M.; Stolin, A.A.; Tolstoy, V.N.

    2001-01-01

    Certain functional identifies for the Gauss q-power function of a sum of q-commuting variables are found. Then these identifies are used to obtain two-parameter twists of the quantum affine algebra U q (sl 2 ) and of the Yangian Y(sl 2 ). The corresponding deformed trigonometric and rational quantum R matrices, which then are used in the computation of deformed XXX and XXZ Hamiltonians [ru

  5. Synthesis and electroluminescence characterization of a new aluminum complex, [8-hydroxyquinoline] bis [2, 2'bipyridine] aluminum Al(Bpy)2q

    Science.gov (United States)

    Rahul, Kumar; Ritu, Srivastava; Punita, Singh

    2016-01-01

    We have synthesized and characterized a new electroluminescent material, [8-hydroxyquinoline] bis [2,2'bipyridine] aluminum. A solution of this material Al(Bpy)2q in toluene showed absorption maxima at 380 nm, which was attributed to the moderate energy (π-π*) transitions of the aromatic rings. The photoluminescence spectrum of Al(Bpy)2q in the toluene solution showed a peak at 518 nm. This material shows thermal stability up to 300 °C. The structure of the device is ITO/F4-TCNQ (1 nm)/α-NPD (35 nm)/Al(Bpy)2q (35 nm)/ BCP (6 nm)/Alq3 (28 nm)/LiF (1 nm)/Al (150 nm). This device exhibited a luminescence peak at 515 nm (CIE coordinates, x = 0.32, y = 0.49). The maximum luminescence of the device was 214 cd/m2 at 21 V. The maximum current efficiency of OLED was 0.12 cd/A at 13 V and the maximum power efficiency was 0.03 lm/W at 10 V.

  6. The structure functions of the photon at large x

    International Nuclear Information System (INIS)

    Chase, M.K.

    1981-01-01

    We derive 'improved' perturbative results in QCD for the structure functions of the photon at large Bjorken x by (a) using a correct phase-space treatment of the leading mass-singularity logarithms and (b) summing the leading logarithms of (1-x) associated with the wave function of the final state. We obtain explicit results in three kinematic regimes: (i) Q 2 low enough for logarithmic QCD corrections to the parton model to be negligible; we estimate that this is the case for all presently realistic values of Q 2 (approx. 2 ). (ii) Q 2 high enough (at fixed x) for the effects of the leading mass-singularity logarithms to be important; we discuss the modifications to Witten's result at large x due to the correct kinematical treatment of the leading logarithms. (iii) Q 2 /s → infinite, where we sum the wave-function logarithms of (1-x); we show that F 2 sup(γ) → finite constant as Q 2 /s → infinite and that there is a close inclusive-exclusive connection in this limit. (orig.)

  7. FORMATION CONDITIONS OF ICY MATERIALS IN COMET C/2004 Q2 (MACHHOLZ). I. MIXING RATIOS OF ORGANIC VOLATILES

    International Nuclear Information System (INIS)

    Kobayashi, Hitomi; Kawakita, Hideyo

    2009-01-01

    We observed comet C/2004 Q2 (Machholz) with the Keck II telescope in late 2005 January and we obtained the spectra of C/2004 Q2 including many emission lines of volatile species such as H 2 O, HCN, C 2 H 2 , NH 3 , CH 4 , C 2 H 6 , CH 3 OH, and H 2 CO with high-signal-to-noise ratios. Based on our observations, we determined the mixing ratios of the molecules relative to H 2 O in C/2004 Q2. Since C/2004 Q2 is one of Oort Cloud comets, it is interesting to compare our results with other Oort Cloud comets. The mixing ratios of C 2 H 2 /H 2 O and C 2 H 6 /H 2 O in C/2004 Q2 are lower than typical Oort Cloud comets. Especially, C 2 H 2 /H 2 O ratio in C/2004 Q2 is as lower as Jupiter Family comets. However, mixing ratios of other molecules in C/2004 Q2 are similar to typical Oort Cloud comets. C/2004 Q2 might be the intermediate type between Oort Cloud and Jupiter Family comets. To investigate the formation conditions of such intermediate type comet, we focused on the (C 2 H 2 +C 2 H 6 )/H 2 O ratios and C 2 H 6 /(C 2 H 6 +C 2 H 2 ) ratios in comets from the viewpoint of conversion from C 2 H 2 to C 2 H 6 in the precometary ices. We found that (C 2 H 2 +C 2 H 6 )/H 2 O ratio in C/2004 Q2 is lower than the ratio in typical Oort Cloud comets while C 2 H 6 /(C 2 H 6 +C 2 H 2 ) ratio in C/2004 Q2 is consistent with the ratio of the typical Oort Cloud comets and Jupiter family comets. If we assume that the cometary volatiles such as H 2 O, CH 4 , and C 2 H 2 formed similar environment, the C 2 H 6 /(C 2 H 6 +C 2 H 2 ) ratio might not be sensitive in the temperature range where hydrogen-addition reactions occurred and cometesimals formed (∼30 K). We employed the dynamical-evolutional model and the chemical-evolutional model to determine the formation region of C/2004 Q2 more precisely. We found that comet C/2004 Q2 might have formed in relatively inner region of the solar nebula than the typical Oort Cloud comet (but slightly further than 5 AU from the proto-Sun).

  8. Measurement of the generalized form factors near threshold via $\\gamma^* p \\to n\\pi^+$ at high $Q^2$

    OpenAIRE

    Park, Kijun; Gothe, Ralf; Adhikari, Krishna; Adikaram-Mudiyanselage, Dasuni; Anghinolfi, Marco; Baghdasaryan, Hovhannes; Ball, Jacques; Battaglieri, Marco; Baturin, Vitaly; Bedlinskiy, Ivan; Bennett, Robert; Biselli, Angela; Bookwalter, Craig; Boyarinov, Sergey; Branford, Derek

    2012-01-01

    We report the first extraction of the pion-nucleon multipoles near the production threshold for the $n\\pi^+$ channel at relatively high momentum transfer ($Q^2$ up to 4.2 $\\rm{GeV^2}$). The dominance of the s-wave transverse multipole ($E_{0+}$), expected in this region, allowed us to access the generalized form factor $G_1$ within the light-cone sum rule (LCSR) framework as well as the axial form factor $G_A$. The data analyzed in this work were collected by the nearly $4\\pi$ CEBAF Large Acc...

  9. Reversed-field-pinch and ultra-low-q discharges in REPUTE-2

    International Nuclear Information System (INIS)

    Inoue, N.; Yoshida, Z.; Kamada, Y.; Saito, M.; Miyamoto, K.

    1987-01-01

    Ultra-low q (ULQ) and very-low q (VLQ) discharge experiments have been done using the REPUTE-1 RFP. It was found that in these q regime, the plasma density and beta are fairly high, and the confinement property is less sensitive to the error field compared to the RFP. However, since the temperature of the REPUTE-1 discharge is limited in low value because of the small plasma current due to the small toroidal field, its magnetic Reynolds number is too small to simulate the reactor plasma behavior. The radiation barrier has not been overcome yet, and consequently the energy confinement time is very short. In order to improve these aspects of the REPUTE-1 experiment, the REPUTE-2 is designed to produce higher toroidal field of 2T. The toroidal field increases slowly to the final value as in the case of the ramp-up mode of the RFP operation. The first stage of the REPUTE-2 project will be devoted to study the confinement physics of RFP, ULQ, and VLQ. In the second stage, innovation of these configurations, such as resistive shell RFP, neutral beam current drive, and higher current density, is planned. 8 refs., 1 fig., 2 tabs

  10. The quasiperpendicular environment of large magnetic pulses in Earth's quasiparallel foreshock - ISEE 1 and 2 observations

    Science.gov (United States)

    Greenstadt, E. W.; Moses, S. L.; Coroniti, F. V.; Farris, M. H.; Russell, C. T.

    1993-01-01

    ULF waves in Earth's foreshock cause the instantaneous angle theta-B(n) between the upstream magnetic field and the shock normal to deviate from its average value. Close to the quasi-parallel (Q-parallel) shock, the transverse components of the waves become so large that the orientation of the field to the normal becomes quasi-perpendicular (Q-perpendicular) during applicable phases of each wave cycle. Large upstream pulses of B were observed completely enclosed in excursions of Theta-B(n) into the Q-perpendicular range. A recent numerical simulation included Theta-B(n) among the parameters examined in Q-parallel runs, and described a similar coincidence as intrinsic to a stage in development of the reformation process of such shocks. Thus, the natural environment of the Q-perpendicular section of Earth's bow shock seems to include an identifiable class of enlarged magnetic pulses for which local Q-perpendicular geometry is a necessary association.

  11. Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2

    DEFF Research Database (Denmark)

    Orr, Nick; Dudbridge, Frank; Dryden, Nicola

    2015-01-01

    We recently identified a novel susceptibility variant, rs865686, for estrogen-receptor positive breast cancer at 9q31.2. Here, we report a fine-mapping analysis of the 9q31.2 susceptibility locus using 43 160 cases and 42 600 controls of European ancestry ascertained from 52 studies and a further...

  12. Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2

    NARCIS (Netherlands)

    N. Orr (Nick); F. Dudbridge (Frank); N. Dryden (Nicola); S. Maguire (Sarah); D. Novo (Daniela); E. Perrakis (Eleni); N. Johnson (Nichola); M. Ghoussaini (Maya); J. Hopper (John); M.C. Southey (Melissa); C. Apicella (Carmel); J. Stone (Jennifer); M.K. Schmidt (Marjanka); A. Broeks (Annegien); L.J. van 't Veer (Laura); F.B.L. Hogervorst (Frans); P.A. Fasching (Peter); L. Haeberle (Lothar); A.B. Ekici (Arif); M.W. Beckmann (Matthias); L.J. Gibson (Lorna); A. Aitken; H. Warren (Helen); E.J. Sawyer (Elinor); I.P. Tomlinson (Ian); M. Kerin (Michael); N. Miller (Nicola); B. Burwinkel (Barbara); F. Marme (Federick); A. Schneeweiss (Andreas); C. Sohn (Chistof); P. Guénel (Pascal); T. Truong (Thérèse); E. Cordina-Duverger (Emilie); M. Sanchez (Marie); S.E. Bojesen (Stig); B.G. Nordestgaard (Børge); S.F. Nielsen (Sune); H. Flyger (Henrik); J. Benítez (Javier); M.P. Zamora (Pilar); J.I.A. Perez (Jose Ignacio Arias); P. Menéndez (Primitiva); H. Anton-Culver (Hoda); S.L. Neuhausen (Susan); H. Brenner (Hermann); A.K. Dieffenbach (Aida Karina); V. Arndt (Volker); C. Stegmaier (Christa); U. Hamann (Ute); H. Brauch (Hiltrud); C. Justenhoven (Christina); T. Brüning (Thomas); Y.-D. Ko (Yon-Dschun); H. Nevanlinna (Heli); K. Aittomäki (Kristiina); C. Blomqvist (Carl); S. Khan (Sofia); N.V. Bogdanova (Natalia); T. Dörk (Thilo); A. Lindblom (Annika); S. Margolin (Sara); A. Mannermaa (Arto); V. Kataja (Vesa); V-M. Kosma (Veli-Matti); J.M. Hartikainen (J.); G. Chenevix-Trench (Georgia); J. Beesley (Jonathan); D. Lambrechts (Diether); M. Moisse (Matthieu); O.A.M. Floris; B. Beuselinck (B.); J. Chang-Claude (Jenny); A. Rudolph (Anja); P. Seibold (Petra); D. Flesch-Janys (Dieter); P. Radice (Paolo); P. Peterlongo (Paolo); B. Peissel (Bernard); V. Pensotti (Valeria); F.J. Couch (Fergus); J.E. Olson (Janet); S. Slettedahl (Seth); C. Vachon (Celine); G.G. Giles (Graham G.); R.L. Milne (Roger L.); C.A. McLean (Catriona Ann); C.A. Haiman (Christopher); B.E. Henderson (Brian); F.R. Schumacher (Fredrick); L. Le Marchand (Loic); J. Simard (Jacques); M.S. Goldberg (Mark); F. Labrèche (France); M. Dumont (Martine); V. Kristensen (Vessela); G.G. Alnæs (Grethe); S. Nord (Silje); A.-L. Borresen-Dale (Anne-Lise); W. Zheng (Wei); S.L. Deming-Halverson (Sandra); M. Shrubsole (Martha); J. Long (Jirong); R. Winqvist (Robert); K. Pykäs (Katri); A. Jukkola-Vuorinen (Arja); M. Grip (Mervi); I.L. Andrulis (Irene); J.A. Knight (Julia); G. Glendon (Gord); S. Tchatchou (Sandrine); P. Devilee (Peter); R.A.E.M. Tollenaar (Robertus A. E. M.); C.M. Seynaeve (Caroline); C.J. van Asperen (Christi); M. García-Closas (Montserrat); J.D. Figueroa (Jonine); S.J. Chanock (Stephen); J. Lissowska (Jolanta); K. Czene (Kamila); H. Darabi (Hatef); M. Eriksson (Mikael); D. Klevebring (Daniel); M.J. Hooning (Maartje); A. Hollestelle (Antoinette); C.H.M. van Deurzen (Carolien); M. Kriege (Mieke); P. Hall (Per); J. Li (Jingmei); J. Liu (Jianjun); M.K. Humphreys (Manjeet); A. Cox (Angela); S.S. Cross (Simon); M.W.R. Reed (Malcolm); P.D.P. Pharoah (Paul); A.M. Dunning (Alison); M. Shah (Mitul); B. Perkins (Barbara); A. Jakubowska (Anna); J. Lubinski (Jan); K. Jaworska-Bieniek (Katarzyna); K. Durda (Katarzyna); A. Ashworth (Alan); A.J. Swerdlow (Anthony ); M. Jones (Michael); M. Schoemaker (Minouk); A. Meindl (Alfons); R.K. Schmutzler (Rita); C. Olswold (Curtis); S. Slager (Susan); A.E. Toland (Amanda); D. Yannoukakos (Drakoulis); K.R. Muir (K.); A. Lophatananon (Artitaya); S. Stewart-Brown (Sarah); P. Siriwanarangsan (Pornthep); K. Matsuo (Keitaro); H. Ito (Hidema); H. Iwata (Hisato); J. Ishiguro (Junko); A.H. Wu (Anna H.); C.-C. Tseng (Chiu-chen); D. Van Den Berg (David); D.O. Stram (Daniel O.); S.-H. Teo (Soo-Hwang); C.H. Yip (Cheng Har); P. Kang (Peter); M.K. Ikram (Kamran); X.-O. Shu (Xiao-Ou); W. Lu (Wei); Y. Gao; H. Cai (Hui); D. Kang (Daehee); J.-Y. Choi (J.); S.K. Park (Sue); D-Y. Noh (Dong-Young); J.M. Hartman (Joost); X. Miao; W.-Y. Lim (Wei-Yen); S.C. Lee (Soo Chin); S. Sangrajrang (Suleeporn); V. Gaborieau (Valerie); P. Brennan (Paul); J.D. McKay (James); P.-E. Wu (Pei-Ei); M.-F. Hou (Ming-Feng); J-C. Yu (Jyh-Cherng); C-Y. Shen (Chen-Yang); W.J. Blot (William); Q. Cai (Qiuyin); L.B. Signorello (Lisa B.); C. Luccarini (Craig); C. Bayes (Caroline); S. Ahmed (Shahana); M. Maranian (Melanie); S. Healey (Sue); A. González-Neira (Anna); G. Pita (Guillermo); M. Rosario Alonso; N. Álvarez (Nuria); D. Herrero (Daniel); D.C. Tessier (Daniel C.); D. Vincent (Daniel); F. Bacot (Francois); D. Hunter (David); S. Lindstrom (Stephen); J. Dennis (Joe); K. Michailidou (Kyriaki); M.K. Bolla (Manjeet); D.F. Easton (Douglas); I. dos Santos Silva (Isabel); O. Fletcher (Olivia); J. Peto (Julian)

    2015-01-01

    textabstractWe recently identified a novel susceptibility variant, rs865686, for estrogen-receptor positive breast cancer at 9q31.2. Here, we report a fine-mapping analysis of the 9q31.2 susceptibility locus using 43 160 cases and 42 600 controls of European ancestry ascertained from 52 studies and

  13. HF183/BFDrev and HumM2 qPCR data

    Data.gov (United States)

    U.S. Environmental Protection Agency — Concentration estimates for HF183/BFDrev and HumM2 qPCR genetic markers in raw sewage collected from 54 geographic locations across the United States. This dataset...

  14. Genetic variants at chromosomes 2q35, 5p12, 6q25.1, 10q26.13, and 16q12.1 influence the risk of breast cancer in men.

    Directory of Open Access Journals (Sweden)

    Nick Orr

    2011-09-01

    Full Text Available Male breast cancer accounts for approximately 1% of all breast cancer. To date, risk factors for male breast cancer are poorly defined, but certain risk factors and genetic features appear common to both male and female breast cancer. Genome-wide association studies (GWAS have recently identified common single nucleotide polymorphisms (SNPs that influence female breast cancer risk; 12 of these have been independently replicated. To examine if these variants contribute to male breast cancer risk, we genotyped 433 male breast cancer cases and 1,569 controls. Five SNPs showed a statistically significant association with male breast cancer: rs13387042 (2q35 (odds ratio (OR  = 1.30, p = 7.98×10⁻⁴, rs10941679 (5p12 (OR = 1.26, p = 0.007, rs9383938 (6q25.1 (OR = 1.39, p = 0.004, rs2981579 (FGFR2 (OR = 1.18, p = 0.03, and rs3803662 (TOX3 (OR = 1.48, p = 4.04×10⁻⁶. Comparing the ORs for male breast cancer with the published ORs for female breast cancer, three SNPs--rs13387042 (2q35, rs3803662 (TOX3, and rs6504950 (COX11--showed significant differences in ORs (p<0.05 between sexes. Breast cancer is a heterogeneous disease; the relative risks associated with loci identified to date show subtype and, based on these data, gender specificity. Additional studies of well-defined patient subgroups could provide further insight into the biological basis of breast cancer development.

  15. Assignment of Alzheimer's presenilin-2 (PS-2) gene to 1q42.1 by fluorescence in situ hybridization.

    Science.gov (United States)

    Takano, T; Sahara, N; Yamanouchi, Y; Mori, H

    1997-01-17

    Presenilin-2 (PS-2) was suggested to be localized on 1q31-42 based on linkage analysis and cDNA cloning. The final identification of PS-2 as the causal gene for early-onset familial Alzheimer's disease in Voga-German pedigrees was concluded based on the point mutation found in the candidate cDNA isolated from this familial AD. We present evidence of its physical genome mapping of PS-2 on chromosome 1q42.1 by fluorescence in situ hybridization method.

  16. Electroproduction of $\\phi(1020)$ Mesons at High $Q^2$ with CLAS

    Energy Technology Data Exchange (ETDEWEB)

    Santoro, Joseph; Smith, Elton; Garcon, Michel; Guidal, Michel; Laget, Jean; Weiss, Christian; Adams, Gary; Amaryan, Moscov; Amaryan, Moskov; Anghinolfi, Marco; Asryan, Gegham; Audit, Gerard; Avagyan, Harutyun; Baghdasaryan, Hovhannes; Baillie, Nathan; Ball, J.P.; Ball, Jacques; Ball, J.P.; Ball, Jacques; Ball, James; Baltzell, Nathan; Barrow, Steve; Battaglieri, Marco; Bedlinskiy, Ivan; Bektasoglu, Mehmet; Bellis, Matthew; Benmouna, Nawal; Berman, Barry; Biselli, Angela; Blaszczyk, Lukasz; Bonner, Billy; Bookwalter, Craig; Bouchigny, Sylvain; Bouchigny, Sylvain; Bradford, Robert; Branford, Derek; Briscoe, William; Brooks, William; Bultmann, S.; Bueltmann, Stephen; Bultmann, S.; Bueltmann, Stephen; Burkert, Volker; Butuceanu, Cornel; Calarco, John; Careccia, Sharon; Carman, Daniel; Casey, Liam; Cazes, Antoine; Chen, Shifeng; Cheng, Lu; Cole, Philip; Collins, Patrick; Coltharp, Philip; Cords, Dieter; Corvisiero, Pietro; Crabb, Donald; Crannell, Hall; Crede, Volker; Cummings, John; Dale, Daniel; Dashyan, Natalya; De Masi, Rita; De Sanctis, Enzo; De Vita, Raffaella; Degtiarenko, Pavel; Denizli, Haluk; Dennis, Lawrence; Deur, Alexandre; Dhamija, Seema; Dharmawardane, Kahanawita; Dhuga, Kalvir; Dickson, Richard; Djalali, Chaden; Dodge, Gail; Doughty, David; Dugger, Michael; Dytman, Steven; Dzyubak, Oleksandr; Egiyan, Hovanes; Egiyan, Kim; Elfassi, Lamiaa; Elouadrhiri, Latifa; Eugenio, Paul; Fatemi, Renee; Fedotov, Gleb; Feuerbach, Robert; Ficenec, John; Forest, Tony; Fradi, Ahmed; Funsten, Herbert; Gavalian, Gagik; Gevorgyan, Nerses; Gilfoyle, Gerard; Giovanetti, Kevin; Girod, Francois-Xavier; Goetz, John; Gohn, Wesley; Gordon, Christopher; Gothe, Ralf; Graham, Lewis; Griffioen, Keith; Guillo, Matthieu; Guler, Nevzat; Guo, Lei; Gyurjyan, Vardan; Hadjidakis, Cynthia; Hafidi, Kawtar; Hakobyan, Hayk; Hanretty, Charles; Hardie, John; Hassall, Neil; Heddle, David; Hersman, F.; Hicks, Kenneth; Hleiqawi, Ishaq; Holtrop, Maurik; Hyde, Charles; Ilieva, Yordanka; Ireland, David; Ishkhanov, Boris; Isupov, Evgeny; Ito, Mark; Jenkins, David; Jo, Hyon-Suk; Johnstone, John; Joo, Kyungseon; Juengst, Henry; Kalantarians, Narbe; Keller, Dustin; Kellie, James; Khandaker, Mahbubul; Kim, Wooyoung; Klein, Andreas; Klein, Franz; Klimenko, Alexei; Kossov, Mikhail; Krahn, Zebulun; Kramer, Laird; Kubarovsky, Valery; Kuhn, Joachim; Kuhn, Sebastian; Kuleshov, Sergey; Kuznetsov, Viacheslav; Lachniet, Jeff; Langheinrich, Jorn; Lawrence, David; Livingston, Kenneth; Lu, Haiyun; MacCormick, Marion; Marchand, Claude; Markov, Nikolai; Mattione, Paul; McAleer, Simeon; McKinnon, Bryan; McNabb, John; Mecking, Bernhard; Mehrabyan, Surik; Melone, Joseph; Mestayer, Mac; Meyer, Curtis; Mibe, Tsutomu; Mikhaylov, Konstantin; Minehart, Ralph; Mirazita, Marco; Miskimen, Rory; Mokeev, Viktor; Morand, Ludyvine; Moreno, Brahim; Moriya, Kei; Morrow, Steven; Moteabbed, Maryam; Mueller, James; Munevar Espitia, Edwin; Mutchler, Gordon; Nadel-Turonski, Pawel; Nasseripour, Rakhsha; Niccolai, Silvia; Niculescu, Gabriel; Niculescu, Maria-Ioana; Niczyporuk, Bogdan; Niroula, Megh; Niyazov, Rustam; Nozar, Mina; O' Rielly, Grant; Osipenko, Mikhail; Ostrovidov, Alexander; Park, Kijun; Park, Sungkyun; Pasyuk, Evgueni; Paterson, Craig; Pereira, Sergio; Philips, Sasha; Pierce, Joshua; Pivnyuk, Nikolay; Pocanic, Dinko; Pogorelko, Oleg; Popa, Iulian; Pozdnyakov, Sergey; Preedom, Barry; Price, John; Procureur, Sebastien; Prok, Yelena; Protopopescu, Dan; Qin, Liming; Raue, Brian; Riccardi, Gregory; Ricco, Giovanni; Ripani, Marco; Ritchie, Barry; Rosner, Guenther; Rossi, Patrizia; Sabatie, Franck; Saini, Mukesh; Salamanca, Julian; Salgado, Carlos; Sapunenko, Vladimir; Schott, Diane; Schumacher, Reinhard; Serov, Vladimir; Sharabian, Youri; Sharov, Dmitri; Shvedunov, Nikolay; Skabelin, Alexander; Smith, Lee; Sober, Daniel; Sokhan, Daria; Stavinsky, Aleksey; Stepanyan, Samuel; Stepanyan, Stepan; Stokes, Burnham; Stoler, Paul; Strakovski, Igor; Strauch, Steffen; Taiuti, Mauro; Tedeschi, David; Tkabladze, A

    2008-08-01

    http://dx.doi.org/10.1103/PhysRevC.78.025210
    Electroproduction of exclusive $\\phi$ vector mesons has been studied with the CLAS detector in the kinematical range $1.6\\leq Q^2\\leq 3.8$ GeV$^{2}$, $0.0\\leq t^{\\prime}\\leq 3.6$ GeV$^{2}$, and $2.0\\leq W\\leq 3.0$ GeV. The scaling exponent for the total cross section as $1/(Q^2+M_{\\phi}^2)^n$ was determined to be $n=2.49\\pm 0.33$. The slope of the four-momentum transfer $t'$ distribution is $b_{\\phi}=0.98 \\pm 0.17$ GeV$^{-2}$. The data are consistent with the assumption of s-channel helicity conservation (SCHC). Under this assumption, we determine the ratio of longitudinal to transverse cross sections to be $R=0.86 \\pm 0.24$. A 2-gluon exchange model is able to reproduce the main features of the data.

  17. Social Impairments in Chromosome 22q11.2 Deletion Syndrome (22q11.2DS): Autism Spectrum Disorder or a Different Endophenotype?

    Science.gov (United States)

    Angkustsiri, Kathleen; Goodlin-Jones, Beth; Deprey, Lesley; Brahmbhatt, Khyati; Harris, Susan; Simon, Tony J.

    2014-01-01

    High prevalence of autism spectrum disorders (ASD) has been reported in 22q11.2DS, although this has been based solely on parent report measures. This study describes the presence of ASD using a procedure more similar to that used in clinical practice by incorporating history (Social Communication Questionnaire) AND a standardized observation…

  18. Investigation into the limits of perturbation theory at low Q"2 using HERA deep inelastic scattering data

    International Nuclear Information System (INIS)

    Abt, I.; Myronenko, V.; Wichmann, K.; Wing, M.

    2017-01-01

    A phenomenological study of the final combined HERA data on inclusive deep inelastic scattering (DIS) has been performed. The data are presented and investigated for a kinematic range extending from values of the four-momentum transfer, Q"2, above 10"4 GeV"2 down to the lowest values observable at HERA of Q"2=0.045 GeV"2 and Bjorken x, x_B_j=6.10"-"7. The data are well described by fits based on perturbative quantum chromodynamics (QCD) using collinear factorisation and evolution of the parton densities encompassed in the DGLAP formalism from the highest Q"2 down to Q"2 of a few GeV"2. The Regge formalism with the soft Pomeron pole can describe the data up to Q"2∼0.65 GeV"2. The complete data set can be described by a new fit using the Abramowicz-Levin-Levy-Maor (ALLM) parameterisation. The region between the Regge and the perturbative QCD regimes is of particular interest.

  19. Molecular analysis of Hb Q-H disease and Hb Q-Hb E in a Singaporean family.

    Science.gov (United States)

    Tan, J; Tay, J S; Wong, Y C; Kham, S K; Bte Abd Aziz, N; Teo, S H; Wong, H B

    1995-01-01

    Hb Q (alpha 74Asp-His) results from a mutation in the alpha-gene such that abnormal alpha Q-chains are synthesized. The alpha Q-chains combine with the normal Beta A-chains to form abnormal Hb alpha 2Q beta 2A (Hb Q). Hb Q-H disease is rare, and has been reported only in the Chinese. We report here a Chinese family, were the mother diagnosed with Hb Q-H disease and the father with Hb E heterozygosity and a child with Hb Q-E-thalassemia. Thalassemia screening of the mother's blood revealed a Hb level of 6.8g/dl with low MCV and MCH. Her blood film was indicative of thalassemia. Cellulose acetate electrophoresis showed Hb H and Hb Q with the absence of Hb A. Globin chain biosynthesis was carried out and alpha Q- and beta-chains were detected. Normal alpha- chains were absent. Digestion of the mother's DNA with Bam HI and Bgl II followed by hybridization with the 1.5 kb alpha-Pst probe showed a two alpha-gene deletion on one chromosome and the -alpha Q chain mutant with the -alpha 4.2 defect on the other chromosome. DNA amplification studies indicated the two-gene deletion to be of the -SEA/ defect. The patient was concluded to possess Hb Q-H disease (--SEA/-alpha 4.2Q). Cellulose acetate electrophoresis of the father's blood showed the presence of Hb A, F and E. Molecular analysis of the father's DNA confirmed an intact set of alpha-genes (alpha alpha/alpha alpha). Globin chain biosynthesis of fetal blood of their child showed gamma, beta A, beta E, alpha A and alpha Q-chains. Molecular analysis of the child's DNA showed one alpha-gene deletion, thus giving a genotype of alpha alpha/-alpha 4.2Q beta beta E.

  20. Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q.

    Science.gov (United States)

    Pieke-Dahl, S; Möller, C G; Kelley, P M; Astuto, L M; Cremers, C W; Gorin, M B; Kimberling, W J

    2000-04-01

    Usher syndrome is a group of autosomal recessive disorders that includes retinitis pigmentosa (RP) with hearing loss. Usher syndrome type II is defined as moderate to severe hearing loss with RP. The USH2A gene at 1q41 has been isolated and characterised. In 1993, a large Usher II family affected with a mild form of RP was found to be unlinked to 1q41 markers. Subsequent linkage studies of families in our Usher series identified several type II families unlinked to USH2A and USH3 on 3q25. After a second unlinked family with many affected members and a mild retinal phenotype was discovered, a genome search using these two large families showed another Usher II locus on 5q (two point lod = 3.1 at D5S484). To date, we have identified nine unrelated 5q linked families (maximum combined multipoint lod = 5.86) as well as three Usher II families that show no significant linkage to any known Usher loci. Haplotype analysis of 5q markers indicates that the new locus is flanked by D5S428 and D5S433. Review of ophthalmological data suggests that RP symptoms are milder in 5q linked families; the RP is often not diagnosed until patients near their third decade. Enamel hypoplasia and severe, very early onset RP were observed in two of the three unlinked families; dental anomalies have not been previously described as a feature of Usher type II.

  1. Best polynomial degree reduction on q-lattices with applications to q-orthogonal polynomials

    KAUST Repository

    Ait-Haddou, Rachid

    2015-06-07

    We show that a weighted least squares approximation of q-Bézier coefficients provides the best polynomial degree reduction in the q-L2-norm. We also provide a finite analogue of this result with respect to finite q-lattices and we present applications of these results to q-orthogonal polynomials. © 2015 Elsevier Inc. All rights reserved.

  2. Best polynomial degree reduction on q-lattices with applications to q-orthogonal polynomials

    KAUST Repository

    Ait-Haddou, Rachid; Goldman, Ron

    2015-01-01

    We show that a weighted least squares approximation of q-Bézier coefficients provides the best polynomial degree reduction in the q-L2-norm. We also provide a finite analogue of this result with respect to finite q-lattices and we present applications of these results to q-orthogonal polynomials. © 2015 Elsevier Inc. All rights reserved.

  3. Cognitive behavioral therapy in 22q11.2 microdeletion with psychotic symptoms: What do we learn from schizophrenia?

    Science.gov (United States)

    Demily, Caroline; Franck, Nicolas

    2016-11-01

    The 22q11.2 deletion syndrome (22q11.2DS) is one of the most common microdeletion syndromes, with a widely underestimated prevalence between 1 per 2000 and 1 per 6000. Since childhood, patients with 22q11.2DS are described as having difficulties to initiate and maintain peer relationships. This lack of social skills has been linked to attention deficits/hyperactivity disorder, anxiety and depression. A high incidence of psychosis and positive symptoms is observed in patients with 22q11.2DS and remains correlated with poor social functioning, anxiety and depressive symptoms. Because 22q11.2DS and schizophrenia share several major clinical features, 22q11.2DS is sometimes considered as a genetic model for schizophrenia. Surprisingly, almost no study suggests the use of cognitive and behavioral therapy (CBT) in this indication. We reviewed what should be learned from schizophrenia to develop specific intervention for 22q11.2DS. In our opinion, the first step of CBT approach in 22q11.2DS with psychotic symptoms is to identify precisely which tools can be used among the already available ones. Cognitive behavioral therapy (CBT) targets integrated disorders, i.e. reasoning biases and behavior disorders. In 22q11.2DS, CBT-targeted behavior disorders may take the form of social avoidance and withdrawal or, in the contrary, a more unusual disinhibition and aggressiveness. In our experience, other negative symptoms observed in 22q11.2DS, such as motivation deficit or anhedonia, may also be reduced by CBT. Controlled trials have been studying the benefits of CBT in schizophrenia and several meta-analyses proved its effectiveness. Therefore, it is legitimate to propose this tool in 22q11.2DS, considering symptoms similarities. Overall, CBT is the most effective psychosocial intervention on psychotic symptoms and remains a relevant complement to pharmacological treatments such as antipsychotics. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  4. CLT-koetalon lämpö- ja kosteusteknisen toiminnan analysointiraportti Q2/2014

    OpenAIRE

    Autioniemi, Juha; Pirttinen, Valtteri; Vatanen, Mikko

    2014-01-01

    CLT-koetalo-projektin yhtenä päätavoitteena on tutkia CLT-materiaalin rakennusfysikaalista toimintaa Suomen haastavissa olosuhteissa. Tämä Q2-raportti on toinen CLT-koetalon lämpö- ja kosteusteknisen toiminnan analysointiraportista, joita julkaistaan vuoden 2014 aikana yhteensä neljä. Q2/2014 -raportissa analysoidaan Kemissä sijaitsevasta CLT-koetalon rakenteista saatua mittausdataa. Koetalon rakenteissa sijaitsee yhteensä 48 mittausanturia, jotka mittaavat lämpötilaa ja suhteellista kosteutt...

  5. Case Series: 2q33.1 Microdeletion Syndrome - Further delineation of the phenotype

    OpenAIRE

    2011-01-01

    Abstract Recurrent deletions of 2q32q33 have recently been reported as a new microdeletion syndrome, clinical features of which include significant learning difficulties, growth retardation, dysmorphic features, thin and sparse hair, feeding difficulties and cleft or high palate. Haploinsufficiency of one gene within the deleted region, SATB2, has been suggested to be responsible for most of the features of the syndrome. We describe seven previously-unreported patients with delet...

  6. [Detection of a fetus with paternally derived 2q37.3 microdeletion and 20p13p12.2 microduplication using whole genome microarray technology].

    Science.gov (United States)

    Zhang, Lin; Ren, Meihong; Song, Guining; Liu, Xuexia; Wang, Jianliu; Zhang, Xiaohong

    2016-12-10

    To perform prenatal diagnosis for a fetus with multiple malformations. The fetus was subjected to routine karyotyping and whole genome microarray analysis. The parents were subjected to high-resolution chromosome analysis. Fetal ultrasound at 28+4 weeks has indicated intrauterine growth restriction, left kidney agenesis, right kidney dysplasia, ventricular septal defect, and polyhydramnios. Chromosomal analysis showed that the fetus has a karyotype of 46,XY,der(2),der(20), t(2;20)(q37.3;p12.2), t(5;15) (q12.2;q25) pat. SNP array analysis confirmed that the fetus has a 5.283 Mb deletion at 2q37.3 and a 11.641 Mb duplication at 20p13p12.2. High-resolution chromosome analysis suggested that the father has a karyotype of 46,XY,t(2;20)(q37.3;p12.2),t(5;15)(q12.2;q25), while the mother has a normal karyotype. The abnormal phenotype of the fetus may be attributed to a 2q37.3 microdeletion and a 20p13p12.2 microduplication. The father has carried a complex translocation involving four chromosomes. To increase the chance for successful pregnancy, genetic diagnosis and/or assisted reproductive technology are warranted.

  7. W 2 and Q 2 dependence of charged hadron and pion multiplicities in vp andbar vp charged current interactionscharged current interactions

    Science.gov (United States)

    Jones, G. T.; Jones, R. W. L.; Morrison, D. R. O.; Mobayyen, M. M.; Wainstein, S.; Aderholz, M.; Hantke, D.; Hoffmann, E.; Katz, U. F.; Kern, J.; Schmitz, N.; Wittek, W.; Allport, P.; Borner, H. P.; Myatt, G.; Radojicic, D.; Bullock, F. W.; Burke, S.

    1990-03-01

    Using data on vp andbar vp charged current interactions from a bubble chamber experiment with BEBC at CERN, the average multiplicities of charged hadrons and pions are determined as functions of W 2 and Q 2. The analysis is based on ˜20000 events with incident v and ˜10000 events with incidentbar v. In addition to the known dependence of the average multiplicity on W 2 a weak dependence on Q 2 for fixed intervals of W is observed. For W>2 GeV and Q 2>0.1 GeV2 the average multiplicity of charged hadrons is well described by =a 1+ a 2ln( W 2/GeV2)+ a 3ln( Q 2/GeV2) with a 1=0.465±0.053, a 2=1.211±0.021, a 3=0.103±0.014 for the vp and a 1=-0.372±0.073, a 2=1.245±0.028, a 3=0.093±0.015 for thebar vp reaction.

  8. Mapping Breakpoints of Complex Chromosome Rearrangements Involving a Partial Trisomy 15q23.1-q26.2 Revealed by Next Generation Sequencing and Conventional Techniques.

    Directory of Open Access Journals (Sweden)

    Qiong Pan

    Full Text Available Complex chromosome rearrangements (CCRs, which are rather rare in the whole population, may be associated with aberrant phenotypes. Next-generation sequencing (NGS and conventional techniques, could be used to reveal specific CCRs for better genetic counseling. We report the CCRs of a girl and her mother, which were identified using a combination of NGS and conventional techniques including G-banding, fluorescence in situ hybridization (FISH and PCR. The girl demonstrated CCRs involving chromosomes 3 and 8, while the CCRs of her mother involved chromosomes 3, 5, 8, 11 and 15. HumanCytoSNP-12 Chip analysis identified a 35.4 Mb duplication on chromosome 15q21.3-q26.2 in the proband and a 1.6 Mb microdeletion at chromosome 15q21.3 in her mother. The proband inherited the rearranged chromosomes 3 and 8 from her mother, and the duplicated region on chromosome 15 of the proband was inherited from the mother. Approximately one hundred genes were identified in the 15q21.3-q26.2 duplicated region of the proband. In particular, TPM1, SMAD6, SMAD3, and HCN4 may be associated with her heart defects, and HEXA, KIF7, and IDH2 are responsible for her developmental and mental retardation. In addition, we suggest that a microdeletion on the 15q21.3 region of the mother, which involved TCF2, TCF12, ADMA10 and AQP9, might be associated with mental retardation. We delineate the precise structures of the derivative chromosomes, chromosome duplication origin and possible molecular mechanisms for aberrant phenotypes by combining NGS data with conventional techniques.

  9. Medium energy nuclear physics research

    International Nuclear Information System (INIS)

    Peterson, G.A.; Dubach, J.F.; Hicks, R.S.; Miskimen, R.A.

    1992-06-01

    This paper covers the following topics: Experiment 87-02: Threshold Electrodisintegration of the Deuteron at High Q 2 ; Measurement of the 5th Structure Function in Deuterium and 12 C; Single-Particle Densities of sd-Shell Nuclei; Experiment 84-28: Transverse Form Factors of 117 Sn; Experiment 82-11: Elastic Magnetic Electron Scattering from 13 C; Experiment 89-09: Measurement of the Elastic Magnetic Form Factor of 3 He at High Momentum Transfer; Experiment 89-15: Coincidence Measurement of the D(e,e'p) Cross-Section at Low Excitation Energy and High Momentum Transfer; Experiment 87-09: Measurement of the Quadrupole Contribution to the N → Δ Excitation; Experiment E-140: Measurement of the x-, Q 2 and A-Dependence of R = σ L /σ T ; PEP Beam-Gas Event Analysis: Physics with the SLAC TPC/2γ Detector; Drift Chamber Tests at Brookhaven National Laboratory; Experiment PR-89-031: Multi-nucleon Knockout Using the CLAS Detector; Electronics Design for the CLAS Region 1 Drift Chamber; Color Transparencies in the Electroproduction of Nucleon Resonances; and Experiment PR-89-015: Study of Coincidence Reactions in the Dip and Delta-Resonance Regions

  10. On the fusion in SL(2)-WZNW models and 6j symbols of U{sub q}sl(2) x U{sub q'}osp(1 vertical stroke 2)

    Energy Technology Data Exchange (ETDEWEB)

    Koesling, Jens

    2010-06-15

    We introduce a novel method to determine 6j-symbols of quantum groups. This method is inspired by the methods used in the determination of fusing matrices of WZNW models. With this method we determine the 6j-symbols of the quantum group U{sub q}sl(2) and the super quantum group U{sub q}osp(1 vertical stroke 2). We present the 6j-symbols as a recurrence relation and its initial values. The 6j-symbols transform between the s-channel and the u-channel decomposition of the invariants of the four-fold tensor product of modules of a quantum group. These invariants fulfil certain difference equations. We set one of the representations in the invariant to the fundamental representation, and deduce a system of linear equations for the initial values of the recurrence relation determining the 6j-symbols. (orig.)

  11. Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome

    Science.gov (United States)

    Cheung, Evelyn Ning Man; George, Susan R.; Andrade, Danielle M.; Chow, Eva W. C.; Silversides, Candice K.; Bassett, Anne S.

    2015-01-01

    Purpose Hypocalcemia is a common endocrinological condition in 22q11.2 deletion syndrome. Neonatal hypocalcemia may affect neurodevelopment. We hypothesized that neonatal hypocalcemia would be associated with rare, more severe forms of intellectual disability in 22q11.2 deletion syndrome. Methods We used a logistic regression model to investigate potential predictors of intellectual disability severity, including neonatal hypocalcemia, neonatal seizures, and complex congenital heart disease, e.g., interrupted aortic arch, in 149 adults with 22q11.2 deletion syndrome. Ten subjects had moderate-to-severe intellectual disability. Results The model was highly significant (P < 0.0001), showing neonatal seizures (P = 0.0018) and neonatal hypocalcemia (P = 0.047) to be significant predictors of a more severe level of intellectual disability. Neonatal seizures were significantly associated with neonatal hypocalcemia in the entire sample (P < 0.0001), regardless of intellectual level. There was no evidence for the association of moderate- to-severe intellectual disability with other factors such as major structural brain malformations in this sample. Conclusion The results suggest that neonatal seizures may increase the risk for more severe intellectual deficits in 22q11.2 deletion syndrome, likely mediated by neonatal hypocalcemia. Neonatal hypocalcemia often remains unrecognized until the postseizure period, when damage to neurons may already have occurred. These findings support the importance of early recognition and treatment of neonatal hypocalcemia and potentially neonatal screening for 22q11.2 deletions. PMID:23765047

  12. 22q11.2 Deletion Syndrome Is Associated With Impaired Auditory Steady-State Gamma Response

    DEFF Research Database (Denmark)

    Larsen, Kit Melissa; Pellegrino, Giovanni; Birknow, Michelle Rosgaard

    2017-01-01

    The 22q11.2 deletion syndrome confers a markedly increased risk for schizophrenia. 22q11.2 deletion carriers without manifest psychotic disorder offer the possibility to identify functional abnormalities that precede clinical onset. Since schizophrenia is associated with a reduced cortical gamma...

  13. Improved extraction of two-photon exchange amplitudes from elastic electron-proton scattering cross section data up to Q2=5.20 (GeV/c ) 2

    Science.gov (United States)

    Qattan, I. A.; Homouz, D.; Riahi, M. K.

    2018-04-01

    In this work, we improve on and extend to low- and high-Q2 values the extractions of the two-photon-exchange (TPE) amplitudes and the ratio Pl/PlBorn(ɛ ,Q2) using world data on electron-proton elastic scattering cross section σR(ɛ ,Q2) with an emphasis on data covering the high-momentum region, up to Q2=5.20 (GeV/c ) 2 , to better constrain the TPE amplitudes in this region. We provide a new parametrization of the TPE amplitudes, along with an estimate of the fit uncertainties. We compare the results to several previous phenomenological extractions and hadronic TPE predictions. We use the new parametrization of the TPE amplitudes to extract the ratio Pl/PlBorn(ɛ ,Q2) , and then compare the results to previous extractions, several theoretical calculations, and direct measurements at Q2=2.50 (GeV/c ) 2 .

  14. The clinical presentation of attention deficit-hyperactivity disorder (ADHD) in children with 22q11.2 deletion syndrome.

    Science.gov (United States)

    Niarchou, Maria; Martin, Joanna; Thapar, Anita; Owen, Michael J; van den Bree, Marianne B M

    2015-12-01

    Although attention deficit-hyperactivity disorder (ADHD) is the most prevalent psychiatric disorder in children with 22q11.2DS, it remains unclear whether its clinical presentation is similar to that in children with idiopathic ADHD. The aim of this study is to compare the ADHD phenotype in children with and without 22q11.2DS by examining ADHD symptom scores, patterns of psychiatric comorbidity, IQ and gender distribution. Forty-four children with 22q11.2DS and ADHD (mean age = 9.6), 600 clinic children (mean age = 10.8) and 77 children with ADHD from a population cohort (mean age = 10.8) participated in the study. Psychopathology was assessed using parent-report research diagnostic instruments. There was a higher proportion of females in the 22q11.2DS ADHD sample in relation to the clinical sample (χ(2)  = 18.2, P ADHD inattentive subtype (χ(2)  = 114.76, P hyperactive-impulsive symptoms compared to the clinical group (z = 8.43, P ADHD group parents reported fewer oppositional defiant disorder/conduct disorder symptoms (z = 6.33, P disorder (χ(2)  = 4.56, P = 0.03) in relation to the clinical group. Two percent of the 22q11.2 DS ADHD sample had received ADHD treatment. The results were similar when the 22q11.2 ADHD group was compared to the population cohort ADHD group. The clinical presentation of ADHD and patterns of co-morbidity in 22q11.2DS is different from that in idiopathic ADHD. This could lead to clinical under-recognition of ADHD in this group. Examining psychopathology in 22q11.2DS can provide insights into the genetic origins of psychiatric problems with implications beyond the 22q11.2DS population. © 2015 Wiley Periodicals, Inc.

  15. De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.

    Science.gov (United States)

    Stokman, Marijn F; Oud, Machteld M; van Binsbergen, Ellen; Slaats, Gisela G; Nicolaou, Nayia; Renkema, Kirsten Y; Nijman, Isaac J; Roepman, Ronald; Giles, Rachel H; Arts, Heleen H; Knoers, Nine V A M; van Haelst, Mieke M

    2016-06-01

    We report an 11-year-old girl with mild intellectual disability, skeletal anomalies, congenital heart defect, myopia, and facial dysmorphisms including an extra incisor, cup-shaped ears, and a preauricular skin tag. Array comparative genomic hybridization analysis identified a de novo 4.5-Mb microdeletion on chromosome 14q24.2q24.3. The deleted region and phenotype partially overlap with previously reported patients. Here, we provide an overview of the literature on 14q24 microdeletions and further delineate the associated phenotype. We performed exome sequencing to examine other causes for the phenotype and queried genes present in the 14q24.2q24.3 microdeletion that are associated with recessive disease for variants in the non-deleted allele. The deleted region contains 65 protein-coding genes, including the ciliary gene IFT43. Although Sanger and exome sequencing did not identify variants in the second IFT43 allele or in other IFT complex A-protein-encoding genes, immunocytochemistry showed increased accumulation of IFT-B proteins at the ciliary tip in patient-derived fibroblasts compared to control cells, demonstrating defective retrograde ciliary transport. This could suggest a ciliary defect in the pathogenesis of this disorder. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  16. Real and virtual radiation

    International Nuclear Information System (INIS)

    Wolynec, E.

    1988-01-01

    Electrodisintegration cross sections related to the corresponding photonuclear process through virtual-photon spectra. A brief review of virtual-photon theory is presented. Calculations of DWBA virtual-photon spectra for finite nuclei are compared with experimental results. The multipole decomposition of electrodisintegration cross sections using these spectra is discussed and several experimental results are presented. A brief review for the bremsstrahlung cross section is also presented. (author) [pt

  17. Simulations of Low-q Disruptions in the Compact Toroidal Hybrid Experiment

    Science.gov (United States)

    Howell, E. C.; Hanson, J. D.; Ennis, D. A.; Hartwell, G. J.; Maurer, D. A.

    2017-10-01

    Resistive MHD simulations of low-q disruptions in the Compact Toroidal Hybrid Device (CTH) are performed using the NIMROD code. CTH is a current-carrying stellarator used to study the effects of 3D shaping on MHD stability. Experimentally, it is observed that the application of 3D vacuum fields allows CTH to operate with edge safety factor less than 2.0. However, these low-q discharges often disrupt after peak current if the applied 3D fields are too weak. Nonlinear simulations are initialized using model VMEC equilibria representative of low-q discharges with weak vacuum transform. Initially a series of symmetry preserving island chains are excited at the q=6/5, 7/5, 8/5, and 9/5 rational surfaces. These island chains act as transport barriers preventing stochastic magnetic fields in the edge from penetrating into the core. As the simulation progresses, predominately m/n=3/2 and 4/3 instabilities are destabilized. As these instabilities grow to large amplitude they destroy the symmetry preserving islands leading to large regions of stochastic fields. A current spike and loss of core thermal confinement occurs when the innermost island chain (6/5) is destroyed. Work Supported by US-DOE Grant #DE-FG02-03ER54692.

  18. Measurement of the Proton Structure Function $F_{2}$ at low $Q^{2}$ in QED Compton Scattering at HERA

    CERN Document Server

    Aktas, A.; Anthonis, T.; Asmone, A.; Babaev, A.; Backovic, S.; Bahr, J.; Baranov, P.; Barrelet, E.; Bartel, W.; Baumgartner, S.; Becker, J.; Beckingham, M.; Behnke, O.; Behrendt, O.; Belousov, A.; Berger, Ch.; Berger, N.; Berndt, T.; Bizot, J.C.; Bohme, J.; Boenig, M.-O.; Boudry, V.; Bracinik, J.; Brisson, V.; Broker, H.-B.; Brown, D.P.; Bruncko, D.; Busser, F.W.; Bunyatyan, A.; Buschhorn, G.; Bystritskaya, L.; Campbell, A.J.; Caron, S.; Cassol-Brunner, F.; Cerny, K.; Chekelian, V.; Collard, C.; Contreras, J.G.; Coppens, Y.R.; Coughlan, J.A.; Cox, B.E.; Cozzika, G.; Cvach, J.; Dainton, J.B.; Dau, W.D.; Daum, K.; Delcourt, B.; Demirchyan, R.; De Roeck, A.; Desch, K.; De Wolf, E.A.; Diaconu, C.; Dingfelder, J.; Dodonov, V.; Dubak, A.; Duprel, C.; Eckerlin, Guenter; Efremenko, V.; Egli, S.; Eichler, R.; Eisele, F.; Ellerbrock, M.; Elsen, E.; Erdmann, M.; Erdmann, W.; Faulkner, P.J.W.; Favart, L.; Fedotov, A.; Felst, R.; Ferencei, J.; Fleischer, M.; Fleischmann, P.; Fleming, Y.H.; Flucke, G.; Flugge, G.; Fomenko, A.; Foresti, I.; Formanek, J.; Franke, G.; Frising, G.; Gabathuler, E.; Gabathuler, K.; Garutti, E.; Garvey, J.; Gayler, J.; Gerhards, R.; Gerlich, C.; Ghazaryan, Samvel; Goerlich, L.; Gogitidze, N.; Gorbounov, S.; Grab, C.; Grassler, H.; Greenshaw, T.; Gregori, M.; Grindhammer, Guenter; Gwilliam, C.; Haidt, D.; Hajduk, L.; Haller, J.; Hansson, M.; Heinzelmann, G.; Henderson, R.C.W.; Henschel, H.; Henshaw, O.; Heremans, R.; Herrera, G.; Herynek, I.; Heuer, R.-D.; Hildebrandt, M.; Hiller, K.H.; Hoting, P.; Hoffmann, D.; Horisberger, R.; Hovhannisyan, A.; Ibbotson, M.; Ismail, M.; Jacquet, M.; Janauschek, L.; Janssen, X.; Jemanov, V.; Jonsson, L.; Johnson, D.P.; Jung, H.; Kant, D.; Kapichine, M.; Karlsson, M.; Katzy, J.; Keller, N.; Kennedy, J.; Kenyon, I.R.; Kiesling, Christian M.; Klein, M.; Kleinwort, C.; Klimkovich, T.; Kluge, T.; Knies, G.; Knutsson, A.; Koblitz, B.; Korbel, V.; Kostka, P.; Koutouev, R.; Kropivnitskaya, A.; Kroseberg, J.; Kuckens, J.; Kuhr, T.; Landon, M.P.J.; Lange, W.; Lastovicka, T.; Laycock, P.; Lebedev, A.; Leiner, B.; Lemrani, R.; Lendermann, V.; Levonian, S.; Lindfeld, L.; Lipka, K.; List, B.; Lobodzinska, E.; Loktionova, N.; Lopez-Fernandez, R.; Lubimov, V.; Lueders, H.; Luke, D.; Lux, T.; Lytkin, L.; Makankine, A.; Malden, N.; Malinovski, E.; Mangano, S.; Marage, P.; Marks, J.; Marshall, R.; Martisikova, M.; Martyn, H.-U.; Maxfield, S.J.; Meer, D.; Mehta, A.; Meier, K.; Meyer, A.B.; Meyer, H.; Meyer, J.; Michine, S.; Mikocki, S.; Milcewicz-Mika, I.; Milstead, D.; Mohamed, A.; Moreau, F.; Morozov, A.; Morozov, I.; Morris, J.V.; Mozer, Matthias Ulrich; Muller, K.; Murin, P.; Nagovizin, V.; Naroska, B.; Naumann, J.; Naumann, Th.; Newman, Paul R.; Niebuhr, C.; Nikiforov, A.; Nikitin, D.; Nowak, G.; Nozicka, M.; Oganezov, R.; Olivier, B.; Olsson, J.E.; Ossoskov, G.; Ozerov, D.; Pascaud, C.; Patel, G.D.; Peez, M.; Perez, E.; Perieanu, A.; Petrukhin, A.; Pitzl, D.; Placakyte, R.; Poschl, R.; Portheault, B.; Povh, B.; Raicevic, N.; Ratiani, Z.; Reimer, P.; Reisert, B.; Rimmer, A.; Risler, C.; Rizvi, E.; Robmann, P.; Roland, B.; Roosen, R.; Rostovtsev, A.; Rurikova, Z.; Rusakov, S.; Rybicki, K.; Sankey, D.P.C.; Sauvan, E.; Schatzel, S.; Scheins, J.; Schilling, F.-P.; Schleper, P.; Schmidt, S.; Schmitt, S.; Schneider, M.; Schoeffel, L.; Schoning, A.; Schroder, V.; Schultz-Coulon, H.-C.; Schwanenberger, C.; Sedlak, K.; Sefkow, F.; Sheviakov, I.; Shtarkov, L.N.; Sirois, Y.; Sloan, T.; Smirnov, P.; Soloviev, Y.; South, D.; Spaskov, V.; Specka, Arnd E.; Spitzer, H.; Stamen, R.; Stella, B.; Stiewe, J.; Strauch, I.; Straumann, U.; Tchoulakov, V.; Thompson, Graham; Thompson, P.D.; Tomasz, F.; Traynor, D.; Truoel, Peter; Tsipolitis, G.; Tsurin, I.; Turnau, J.; Tzamariudaki, E.; Uraev, A.; Urban, Marcel; Usik, A.; Utkin, D.; Valkar, S.; Valkarova, A.; Vallee, C.; Van Mechelen, P.; Van Remortel, N.; Vargas Trevino, A.; Vazdik, Y.; Veelken, C.; Vest, A.; Vinokurova, S.; Volchinski, V.; Wacker, K.; Wagner, J.; Weber, G.; Weber, R.; Wegener, D.; Werner, C.; Werner, N.; Wessels, M.; Wessling, B.; Winter, G.-G.; Wissing, Ch.; Woehrling, E.-E.; Wolf, R.; Wunsch, E.; Xella, S.; Yan, W.; Yeganov, V.; Zacek, J.; Zalesak, J.; Zhang, Z.; Zhokin, A.; Zohrabyan, H.; Zomer, F.

    2004-01-01

    The proton structure function F_2(x,Q^2) is measured in inelastic QED Compton scattering using data collected with the H1 detector at HERA. QED Compton events are used to access the kinematic range of very low virtualities of the exchanged photon, Q^2, down to 0.5 GeV^2, and Bjorken x up to \\sim 0.06, a region which has not been covered previously by inclusive measurements at HERA. The results are in agreement with the measurements from fixed target lepton-nucleon scattering experiments.

  19. Some aspects of q-boson calculus

    International Nuclear Information System (INIS)

    Smirnov, Yu.F.; Kibler, M.R.

    1992-10-01

    The Jordan-Schwinger calculus is discussed, using deformed bosons. This work constitutes a first step toward a complete study of the SU q (2) unit tensor. The objective is to find a realization of the components of this tensor in terms of q-bosons. The q-deformed Schwinger algebra relative to SU q (2) is defined, and an algorithm for producing recurrent relations between Clebsch-Gordan coefficients for SU q (2) is given. (K.A.) 18 refs

  20. A disseminated alveolar rhabdomyosarcoma in a 9-year-old boy disclosed by chromosomal translocation (2;13) (q35;q14)

    Science.gov (United States)

    Brichard, B; Ninane, J; Gosseye, S; Verellen-Dumoulin, C; Vermylen, C; Rodhain, J; Cornu, G

    1991-01-01

    A 9-year-old boy presented with a small subcutaneous tumor of the trunk and diffuse bone marrow involvement. The first histological diagnosis given was undifferentiated malignancy possibly of neural crest origin and chemotherapy was started immediately using vincristine, cyclophosphamide, cisplatin, and teniposide (OPEC). Complete response was achieved after four courses of chemotherapy. Histological slides were then reviewed and the final diagnosis of alveolar rhabdomyosarcoma (RMS) was retained. Moreover, chromosome analysis of malignant cells in the bone marrow revealed a translocation involving chromosomes 2 and 13:t(2;13) (q35;q14). This specific karyotype finding has been recently reported in a few cases and could be specific for alveolar RMS. The patient had a relapse 7 months after diagnosis and died 4 months later.

  1. Synthesis and electroluminescence characterization of a new aluminum complex, [8-hydroxyquinoline] bis [2, 2'bipyridine] aluminum Al(Bpy)2q

    International Nuclear Information System (INIS)

    Rahul, Kumar; Ritu, Srivastava; Punita, Singh

    2016-01-01

    We have synthesized and characterized a new electroluminescent material, [8-hydroxyquinoline] bis [2,2'bipyridine] aluminum. A solution of this material Al(Bpy) 2 q in toluene showed absorption maxima at 380 nm, which was attributed to the moderate energy (π–π*) transitions of the aromatic rings. The photoluminescence spectrum of Al(Bpy) 2 q in the toluene solution showed a peak at 518 nm. This material shows thermal stability up to 300 °C. The structure of the device is ITO/F4-TCNQ (1 nm)/α-NPD (35 nm)/Al(Bpy) 2 q (35 nm)/ BCP (6 nm)/Alq 3 (28 nm)/LiF (1 nm)/Al (150 nm). This device exhibited a luminescence peak at 515 nm (CIE coordinates, x = 0.32, y = 0.49). The maximum luminescence of the device was 214 cd/m 2 at 21 V. The maximum current efficiency of OLED was 0.12 cd/A at 13 V and the maximum power efficiency was 0.03 lm/W at 10 V. (paper)

  2. Periventricular nodular heterotopia and bilateral intraventricular xanthogranulomas in 22q11.2 deletion syndrome

    Directory of Open Access Journals (Sweden)

    Moogeh Baharnoori

    2017-09-01

    Full Text Available 22q11.2 deletion syndrome (22q11DS is the most common pathogenic copy number variant in humans. Neuropsychiatric phenotypes, including schizophrenia, are prominent. Imaging studies of individuals with this syndrome show a variety of abnormalities that may indicate abnormal neuronal migration. Here we present the neuroimaging and neuropathologic features of a 22q11DS patient with bilateral periventricular nodular heterotopias (PNH and intraventricular xanthogranulomas that were identified by post-mortem examination.

  3. Analysis of autism susceptibility gene loci on chromosomes 1p, 4p, 6q, 7q, 13q, 15q, 16p, 17q, 19q and 22q in Finnish multiplex families.

    Science.gov (United States)

    Auranen, M; Nieminen, T; Majuri, S; Vanhala, R; Peltonen, L; Järvelä, I

    2000-05-01

    The role of genetic factors in the etiology of the autistic spectrum of disorders has clearly been demonstrated. Ten chromosomal regions, on chromosomes 1p, 4p, 6q, 7q, 13q, 15q, 16p, 17q, 19q and 22q have potentially been linked to autism.1-8 We have analyzed these chromosomal regions in a total of 17 multiplex families with autism originating from the isolated Finnish population by pairwise linkage analysis and sib-pair analysis. Mild evidence for putative contribution was found only with the 1p chromosomal region in the susceptibility to autism. Our data suggest that additional gene loci exist for autism which will be detectable in and even restricted to the isolated Finnish population.

  4. Complex chromosomal rearrangement in a girl with psychomotor-retardation and a de novo inversion: inv(2)(p15;q24.2).

    Science.gov (United States)

    Granot-Hershkovitz, Einat; Raas-Rothschild, Annick; Frumkin, Ayala; Granot, David; Silverstein, Shira; Abeliovich, Dvorah

    2011-08-01

    Cytogenetic analysis of DNA from a girl with severe psychomotor retardation revealed a de novo pericentric inversion of chromosome 2: 46,XX,inv(2)(p15q24.2). In order to elucidate the possible role of the inversion in the girl's abnormal phenotype, we analyzed the inversion breakpoints. FISH analysis revealed BAC clones spanning the breakpoints at 2p and 2q of the inversion. Southern blot hybridization with DNA probes from the BAC regions was used to refine the localization of the breakpoints, followed by inverse-PCR which enabled us to sequence the inversion breakpoints. We found a complex chromosomal rearrangement, including five breakpoints, four at 2q and one at 2p joined with minor insertions/deletions of a few bases. The breakpoint at 2p was within the NRXN1 gene that has previously been associated with autism, intellectual disabilities, and psychiatric disorders. In 2q, the breakpoints disrupted two genes, TANC1 and RBMS1; the phenotypic effect of these genes is not currently known. Copyright © 2011 Wiley-Liss, Inc.

  5. Cortical morphology development in patients with 22q11.2 deletion syndrome at ultra-high risk of psychosis.

    Science.gov (United States)

    Padula, Maria Carmela; Schaer, Marie; Armando, Marco; Sandini, Corrado; Zöller, Daniela; Scariati, Elisa; Schneider, Maude; Eliez, Stephan

    2018-01-17

    Patients with 22q11.2 deletion syndrome (22q11DS) present a high risk of developing psychosis. While clinical and cognitive predictors for the conversion towards a full-blown psychotic disorder are well defined and largely used in practice, neural biomarkers do not yet exist. However, a number of investigations indicated an association between abnormalities in cortical morphology and higher symptoms severities in patients with 22q11DS. Nevertheless, few studies included homogeneous groups of patients differing in their psychotic symptoms profile. In this study, we included 22 patients meeting the criteria for an ultra-high-risk (UHR) psychotic state and 22 age-, gender- and IQ-matched non-UHR patients. Measures of cortical morphology, including cortical thickness, volume, surface area and gyrification, were compared between the two groups using mass-univariate and multivariate comparisons. Furthermore, the development of these measures was tested in the two groups using a mixed-model approach. Our results showed differences in cortical volume and surface area in UHR patients compared with non-UHR. In particular, we found a positive association between surface area and the rate of change of global functioning, suggesting that higher surface area is predictive of improved functioning with age. We also observed accelerated cortical thinning during adolescence in UHR patients with 22q11DS. These results, although preliminary, suggest that alterations in cortical volume and surface area as well as altered development of cortical thickness may be associated to a greater probability to develop psychosis in 22q11DS.

  6. Screening of blood donors for chronic Coxiella burnetii infection after large Q fever outbreaks

    NARCIS (Netherlands)

    Slot, Ed; Hogema, Boris M.; Molier, Michel; Zaaijer, Hans L.

    2014-01-01

    The Netherlands experienced major Q fever outbreaks from 2007 through 2009. An increasing number of human chronic Q fever cases has been reported in the affected area. Blood donors unaware of chronic Coxiella burnetii infection might be infectious for transfusion recipients. Local blood donations

  7. Simultaneous occurrence of t(9;22)(q34;q11.2) and t(16;16)(p13;q22) in a patient with chronic myeloid leukemia in blastic phase.

    Science.gov (United States)

    Zámecníkova, Adriana; Al Bahar, Soad; Ramesh, Pandita

    2008-06-01

    Coexistence of two specific chromosomal translocations in the same clone is an infrequent phenomenon and has only rarely been reported in hematological malignancies. We report a combination of t(16;16)(p13;q22), the Philadelphia translocation t(9;22)(q34;q11.2), and deletion of the long arm of chromosome 7 in a patient with chronic myeloid leukemia in blast phase. Monotherapy treatment with imatinib mesylate resulted in the disappearance of the Ph-positive clone, but with persistence of t(16;16) and del(7) in all of the metaphases examined. The case illustrates that, although imatinib mesylate can be an effective treatment in eradication of the BCR-ABL fusion gene cells, the occurrence of additional specific abnormalities in Philadelphia-positive leukemias may pose a significant therapeutic challenge. (c) 2008 Elsevier Inc.

  8. Ytarget optimization for E93050 experiment. Pt. 1. Q2 = 1 GeV2

    International Nuclear Information System (INIS)

    Jaminion, S.; Fonvieille, H.

    1998-01-01

    The Espace y tg optimization that has been performed for experiment E93050 at Q 2 = 1 GeV 2 is summarized. The method and results are presented. The optic Y tensor elements obtained can be used for first pass analysis, although a more refined analysis may need further optimized optic elements. (author)

  9. MicroRNA Dysregulation, Gene Networks, and Risk for Schizophrenia in 22q11.2 Deletion Syndrome

    OpenAIRE

    Merico, Daniele; Costain, Gregory; Butcher, Nancy J.; Warnica, William; Ogura, Lucas; Alfred, Simon E.; Brzustowicz, Linda M.; Bassett, Anne S.

    2014-01-01

    The role of microRNAs (miRNAs) in the etiology of schizophrenia is increasingly recognized. Microdeletions at chromosome 22q11.2 are recurrent structural variants that impart a high risk for schizophrenia and are found in up to 1% of all patients with schizophrenia. The 22q11.2 deletion region overlaps gene DGCR8, encoding a subunit of the miRNA microprocessor complex. We identified miRNAs overlapped by the 22q11.2 microdeletion and for the first time investigated their predicted target genes...

  10. GDH sum rule measurement at low Q2

    International Nuclear Information System (INIS)

    Bianchi, N.

    1996-01-01

    The Gerasimov-Drell-Hearn (GDH) sum rule is based on a general dispersive relation for the forward Compton scattering. Multipole analysis suggested the possible violation of the sum rule. Some propositions have been made to modify the original GDH expression. An effort is now being made in several laboratories to shred some light on this topic. The purposes of the different planned experiments are briefly presented according to their Q 2 range

  11. TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

    Directory of Open Access Journals (Sweden)

    Tsutomu Ogata

    Full Text Available BACKGROUND: Although TBX1 mutations have been identified in patients with 22q11.2 deletion syndrome (22q11.2DS-like phenotypes including characteristic craniofacial features, cardiovascular anomalies, hypoparathyroidism, and thymic hypoplasia, the frequency of TBX1 mutations remains rare in deletion-negative patients. Thus, it would be reasonable to perform a comprehensive genetic analysis in deletion-negative patients with 22q11.2DS-like phenotypes. METHODOLOGY/PRINCIPAL FINDINGS: We studied three subjects with craniofacial features and hypocalcemia (group 1, two subjects with craniofacial features alone (group 2, and three subjects with normal phenotype within a single Japanese family. Fluorescence in situ hybridization analysis excluded chromosome 22q11.2 deletion, and genomewide array comparative genomic hybridization analysis revealed no copy number change specific to group 1 or groups 1+2. However, exome sequencing identified a heterozygous TBX1 frameshift mutation (c.1253delA, p.Y418fsX459 specific to groups 1+2, as well as six missense variants and two in-frame microdeletions specific to groups 1+2 and two missense variants specific to group 1. The TBX1 mutation resided at exon 9C and was predicted to produce a non-functional truncated protein missing the nuclear localization signal and most of the transactivation domain. CONCLUSIONS/SIGNIFICANCE: Clinical features in groups 1+2 are well explained by the TBX1 mutation, while the clinical effects of the remaining variants are largely unknown. Thus, the results exemplify the usefulness of exome sequencing in the identification of disease-causing mutations in familial disorders. Furthermore, the results, in conjunction with the previous data, imply that TBX1 isoform C is the biologically essential variant and that TBX1 mutations are associated with a wide phenotypic spectrum, including most of 22q11.2DS phenotypes.

  12. 1 million-Q optomechanical microdisk resonators for sensing with very large scale integration

    Science.gov (United States)

    Hermouet, M.; Sansa, M.; Banniard, L.; Fafin, A.; Gely, M.; Allain, P. E.; Santos, E. Gil; Favero, I.; Alava, T.; Jourdan, G.; Hentz, S.

    2018-02-01

    Cavity optomechanics have become a promising route towards the development of ultrasensitive sensors for a wide range of applications including mass, chemical and biological sensing. In this study, we demonstrate the potential of Very Large Scale Integration (VLSI) with state-of-the-art low-loss performance silicon optomechanical microdisks for sensing applications. We report microdisks exhibiting optical Whispering Gallery Modes (WGM) with 1 million quality factors, yielding high displacement sensitivity and strong coupling between optical WGMs and in-plane mechanical Radial Breathing Modes (RBM). Such high-Q microdisks with mechanical resonance frequencies in the 102 MHz range were fabricated on 200 mm wafers with Variable Shape Electron Beam lithography. Benefiting from ultrasensitive readout, their Brownian motion could be resolved with good Signal-to-Noise ratio at ambient pressure, as well as in liquid, despite high frequency operation and large fluidic damping: the mechanical quality factor reduced from few 103 in air to 10's in liquid, and the mechanical resonance frequency shifted down by a few percent. Proceeding one step further, we performed an all-optical operation of the resonators in air using a pump-probe scheme. Our results show our VLSI process is a viable approach for the next generation of sensors operating in vacuum, gas or liquid phase.

  13. Measurement of high-Q2 charged current cross sections in e+p deep inelastic scattering at HERA

    International Nuclear Information System (INIS)

    Rautenberg, J.

    2004-06-01

    Cross sections for charged current deep inelastic scattering have been measured in e + p collisions at a center-of-mass energy of 318 GeV. The data collected with the ZEUS detector at HERA in the running periods 1999 and 2000 correspond to an integrated luminosity of 61 pb -1 . Single differential cross sections dσ/dQ 2 , dσ/dx and dσ/dy have been measured for Q 2 >200 GeV 2 , as well as the double differential reduced cross section d 2 σ/dxdQ 2 in the kinematic range 280 GeV 2 2 2 and 0.008 - p charged current deep inelastic scattering cross sections. The helicity structure is investigated in particular. The mass of the space-like W boson propagator has been determined from a fit to dσ/dQ 2 . (orig.)

  14. Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.

    Science.gov (United States)

    Bassett, Anne S; Lowther, Chelsea; Merico, Daniele; Costain, Gregory; Chow, Eva W C; van Amelsvoort, Therese; McDonald-McGinn, Donna; Gur, Raquel E; Swillen, Ann; Van den Bree, Marianne; Murphy, Kieran; Gothelf, Doron; Bearden, Carrie E; Eliez, Stephan; Kates, Wendy; Philip, Nicole; Sashi, Vandana; Campbell, Linda; Vorstman, Jacob; Cubells, Joseph; Repetto, Gabriela M; Simon, Tony; Boot, Erik; Heung, Tracy; Evers, Rens; Vingerhoets, Claudia; van Duin, Esther; Zackai, Elaine; Vergaelen, Elfi; Devriendt, Koen; Vermeesch, Joris R; Owen, Michael; Murphy, Clodagh; Michaelovosky, Elena; Kushan, Leila; Schneider, Maude; Fremont, Wanda; Busa, Tiffany; Hooper, Stephen; McCabe, Kathryn; Duijff, Sasja; Isaev, Karin; Pellecchia, Giovanna; Wei, John; Gazzellone, Matthew J; Scherer, Stephen W; Emanuel, Beverly S; Guo, Tingwei; Morrow, Bernice E; Marshall, Christian R

    2017-11-01

    Chromosome 22q11.2 deletion syndrome (22q11.2DS) is associated with a more than 20-fold increased risk for developing schizophrenia. The aim of this study was to identify additional genetic factors (i.e., "second hits") that may contribute to schizophrenia expression. Through an international consortium, the authors obtained DNA samples from 329 psychiatrically phenotyped subjects with 22q11.2DS. Using a high-resolution microarray platform and established methods to assess copy number variation (CNV), the authors compared the genome-wide burden of rare autosomal CNV, outside of the 22q11.2 deletion region, between two groups: a schizophrenia group and those with no psychotic disorder at age ≥25 years. The authors assessed whether genes overlapped by rare CNVs were overrepresented in functional pathways relevant to schizophrenia. Rare CNVs overlapping one or more protein-coding genes revealed significant between-group differences. For rare exonic duplications, six of 19 gene sets tested were enriched in the schizophrenia group; genes associated with abnormal nervous system phenotypes remained significant in a stepwise logistic regression model and showed significant interactions with 22q11.2 deletion region genes in a connectivity analysis. For rare exonic deletions, the schizophrenia group had, on average, more genes overlapped. The additional rare CNVs implicated known (e.g., GRM7, 15q13.3, 16p12.2) and novel schizophrenia risk genes and loci. The results suggest that additional rare CNVs overlapping genes outside of the 22q11.2 deletion region contribute to schizophrenia risk in 22q11.2DS, supporting a multigenic hypothesis for schizophrenia. The findings have implications for understanding expression of psychotic illness and herald the importance of whole-genome sequencing to appreciate the overall genomic architecture of schizophrenia.

  15. Stable Sheave Moduli of Rank 2 with Chern Classes c 1 = -1; c2 = 2; c3 = 0 on Q3

    Directory of Open Access Journals (Sweden)

    A. D. Uvarov

    2012-01-01

    Full Text Available In this paper we consider the scheme MQ( 2;¡1; 2; 0 of stable torsion free sheaves of rank 2 with Chern classes c1 = -1, c2 = 2, c3 = 0 on a smooth 3-dimensional projective quadric Q. The manifold MQ(-1; 2 of moduli bundles of rank 2 with Chern classes c1 = -1, c2 = 2 on Q was studied by Ottaviani and Szurek in 1994. In 2007 the author described the closure MQ (-1; 2 in the scheme MQ(2;¡1; 2; 0. In this paper we prove that in MQ(2;¡1; 2; 0 there exists a unique irreducible component diferent from MQ (¡1; 2 which is a rational variety of dimension 10.

  16. Active filter for INDUS-2 Q4 and Q5 power supplies

    International Nuclear Information System (INIS)

    Singh, Y.P.; Thakurta, A.C.; Kotaiah, S.

    2003-01-01

    Q4 and Q5 power supplies are SCR based power supplies wherein the rectified voltage is fed to a passive filter to reduce the ripple voltage. The output of the passive filter still contains some ripple particularly on the low frequency side. Attenuation of this ripple with passive filter necessitates increase in size of L and C and leads to sluggishness of the system. The design and the test results of an active filter module have been discussed wherein the low frequency attenuation can be very effectively taken care of by, allowing this to be absorbed in a coupling transformer put after the passive filter. Considerable size reduction has been achieved by using switching techniques. Low frequency attenuation has been made quite a simple task. This filter also helps in handling transients from input. (author)

  17. L_p- and S_{p,q}^rB-discrepancy of (order 2) digital nets

    OpenAIRE

    Markhasin, Lev

    2014-01-01

    Dick proved that all order $2$ digital nets satisfy optimal upper bounds of the $L_2$-discrepancy. We give an alternative proof for this fact using Haar bases. Furthermore, we prove that all digital nets satisfy optimal upper bounds of the $S_{p,q}^r B$-discrepancy for a certain parameter range and enlarge that range for order $2$ digitals nets. $L_p$-, $S_{p,q}^r F$- and $S_p^r H$-discrepancy is considered as well.

  18. Four novel Loci (19q13, 6q24, 12q24, and 5q14 influence the microcirculation in vivo.

    Directory of Open Access Journals (Sweden)

    M Kamran Ikram

    2010-10-01

    Full Text Available There is increasing evidence that the microcirculation plays an important role in the pathogenesis of cardiovascular diseases. Changes in retinal vascular caliber reflect early microvascular disease and predict incident cardiovascular events. We performed a genome-wide association study to identify genetic variants associated with retinal vascular caliber. We analyzed data from four population-based discovery cohorts with 15,358 unrelated Caucasian individuals, who are members of the Cohort for Heart and Aging Research in Genomic Epidemiology (CHARGE consortium, and replicated findings in four independent Caucasian cohorts (n  =  6,652. All participants had retinal photography and retinal arteriolar and venular caliber measured from computer software. In the discovery cohorts, 179 single nucleotide polymorphisms (SNP spread across five loci were significantly associated (p<5.0×10(-8 with retinal venular caliber, but none showed association with arteriolar caliber. Collectively, these five loci explain 1.0%-3.2% of the variation in retinal venular caliber. Four out of these five loci were confirmed in independent replication samples. In the combined analyses, the top SNPs at each locus were: rs2287921 (19q13; p  =  1.61×10(-25, within the RASIP1 locus, rs225717 (6q24; p = 1.25×10(-16, adjacent to the VTA1 and NMBR loci, rs10774625 (12q24; p  =  2.15×10(-13, in the region of ATXN2,SH2B3 and PTPN11 loci, and rs17421627 (5q14; p = 7.32×10(-16, adjacent to the MEF2C locus. In two independent samples, locus 12q24 was also associated with coronary heart disease and hypertension. Our population-based genome-wide association study demonstrates four novel loci associated with retinal venular caliber, an endophenotype of the microcirculation associated with clinical cardiovascular disease. These data provide further insights into the contribution and biological mechanisms of microcirculatory changes that underlie cardiovascular

  19. Non-Commutative Integration, Zeta Functions and the Haar State for SU{sub q}(2)

    Energy Technology Data Exchange (ETDEWEB)

    Matassa, Marco, E-mail: marco.matassa@gmail.com [SISSA (Italy)

    2015-12-15

    We study a notion of non-commutative integration, in the spirit of modular spectral triples, for the quantum group SU{sub q}(2). In particular we define the non-commutative integral as the residue at the spectral dimension of a zeta function, which is constructed using a Dirac operator and a weight. We consider the Dirac operator introduced by Kaad and Senior and a family of weights depending on two parameters, which are related to the diagonal automorphisms of SU{sub q}(2). We show that, after fixing one of the parameters, the non-commutative integral coincides with the Haar state of SU{sub q}(2). Moreover we can impose an additional condition on the zeta function, which also fixes the second parameter. For this unique choice the spectral dimension coincides with the classical dimension.

  20. Constitutional chromosomal events at 22q11 and 15q26 in a child with a pilocytic astrocytoma of the spinal cord.

    Science.gov (United States)

    Mascelli, Samantha; Severino, Mariasavina; Raso, Alessandro; Nozza, Paolo; Tassano, Elisa; Morana, Giovanni; De Marco, Patrizia; Merello, Elisa; Milanaccio, Claudia; Pavanello, Marco; Rossi, Andrea; Cama, Armando; Garrè, Maria Luisa; Capra, Valeria

    2014-01-01

    We report on a 9-years-old patient with mild intellectual disability, facial dimorphisms, bilateral semicircular canal dysplasia, periventricular nodular heterotopias, bilateral hippocampal malrotation and abnormal cerebellar foliation, who developed mild motor impairment and gait disorder due to a pilocytic astrocytoma of the spinal cord. Array-CGH analysis revealed two paternal inherited chromosomal events: a 484.3 Kb duplication on chromosome 15q26.3 and a 247 Kb deletion on 22q11.23. Further, a second de novo 1.5 Mb deletion on 22q11.21 occurred. Chromosome 22 at q11.2 and chromosome 15 at q24q26 are considered unstable regions subjected to copy number variations, i.e. structural alterations of genome, mediated by low copy repeat sequences or segmental duplications. The link between some structural CNVs, which compromise fundamental processes controlling DNA stability, and genomic disorders suggest a plausible scenario for cancer predisposition. Evaluation of the genes at the breakpoints cannot account simultaneously for the phenotype and tumour development in this patient. The two paternal inherited CNVs arguably are not pathogenic and do not contribute to the clinical manifestations. Similarly, although the de novo large deletion at 22q11.21 overlaps with the Di George (DGS) critical region and results in haploinsufficiency of genes compromising critical processes for DNA stability, this case lacks several hallmarks of DGS.

  1. q-deformed conformal superalgebra and its Hopf subalgebras

    International Nuclear Information System (INIS)

    Dobrev, V.K.; Lukierski, J.; Sobczyk, J.; Tolstoy, V.N.

    1992-07-01

    We present in detail a Hopf superalgebra U q (su(2,2/2)) which is a q-deformation of the conformal superalgebra su(2,2/1). The superalgebra U q (su(2,2/1)) contains as a subalgebra a q-deformed super-Poincare algebra and as Hopf subalgebras two conjugate 16-generator q-deformed super-Weyl algebras, which are q-deformation of parabolic subalgebras of su(2,2/1). We use several (anti-) involutions, including the standard Cartan involution and a *-antiinvolution under which the super-Weyl algebras are *-subalgebras of U q (su(2,2/1)). The q-deformed Lorentz algebra is Hopf subalgebra of both Weyl algebras and is preserved by all (anti-) involutions considered. (author). 26 refs

  2. Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome

    NARCIS (Netherlands)

    Vorstman, Jacob A S; Breetvelt, Elemi J.; Duijff, Sasja N.; Eliez, Stephan; Schneider, Maude; Jalbrzikowski, Maria; Armando, Marco; Vicari, Stefano; Shashi, Vandana; Hooper, Stephen R.; Chow, Eva W C; Fung, Wai Lun Alan; Butcher, Nancy J.; Young, Donald A.; McDonald-McGinn, Donna M.; Vogels, Annick; Van Amelsvoort, Therese; Gothelf, Doron; Weinberger, Ronnie; Weizman, Abraham; Klaassen, Petra W J; Koops, Sanne; Kates, Wendy R.; Antshel, Kevin M.; Simon, Tony J.; Ousley, Opal Y.; Swillen, Ann; Gur, Raquel E.; Bearden, Carrie E.; Kahn, René S.; Bassett, Anne S.; Emanuel, Beverly S.; Zackai, Elaine H.; Kushan, Leila; Fremont, Wanda; Schoch, Kelly; Stoddard, Joel; Cubells, Joseph; Fu, Fiona; Campbell, Linda E.; Fritsch, Rosemarie; Vergaelen, Elfi; Neeleman, Marjolein; Boot, Erik; Debbané, Martin; Philip, Nicole; Green, Tamar; Van DenBree, Marianne B M; Murphy, Declan; Canyelles, Jaume Morey; Arango, Celso; Murphy, Kieran C.; Pontillo, Maria

    2015-01-01

    Importance: Patients with 22q11.2 deletion syndrome (22q11DS) have an elevated (25%) risk of developing schizophrenia. Recent reports have suggested that a subgroup of children with 22q11DS display a substantial decline in cognitive abilities starting at a young age.Objective: To determine whether

  3. W2 and Q2 dependence of charged hadron and pion multiplicities in νp and anti νp charged current interactions

    International Nuclear Information System (INIS)

    Jones, G.T.; Jones, R.W.L.; Allport, P.; Borner, H.P.; Myatt, G.; Radojicic, D.; Bullock, F.W.; Burke, S.

    1990-01-01

    Using data on νp and anti νp charged current interactions from a bubble chamber experiment with BEBC at CERN, the average multiplicities of charged hadrons and pions are determined as functions of W 2 and Q 2 . The analysis is based on ∝20000 events with incident ν and ∝10000 events with incident anti ν. In addition to the known dependence of the average multiplicity on W 2 a weak dependence on Q 2 for fixed intervals of W is observed. For W>2 Gev and Q 2 >0.1 GeV 2 the average multiplicity of charged hadrons is well described by =a 1 +a 2 ln(W 2 /GeV 2 )+a 3 ln(Q 2 /GeV 2 ) with a 1 =0.465±0.053, a 2 =1.211±0.021, a 3 =0.103±0.014 for the νp and a 1 =-0.372±0.073, a 2 =1.245±0.028, a=30.093±0.015 for the anti νp reaction. (orig.)

  4. 9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer

    DEFF Research Database (Denmark)

    Warren, Helen; Dudbridge, Frank; Fletcher, Olivia

    2012-01-01

    Our recent genome-wide association study identified a novel breast cancer susceptibility locus at 9q31.2 (rs865686).......Our recent genome-wide association study identified a novel breast cancer susceptibility locus at 9q31.2 (rs865686)....

  5. Medium energy nuclear physics research

    International Nuclear Information System (INIS)

    Peterson, G.A.; Dubach, J.F.; Hicks, R.S.; Miskimen, R.A.

    1993-06-01

    The University of Massachusetts (UMass) Nuclear Physics Program continues to concentrate upon the use of the electromagnetic interaction in a joint experimental and theoretical approach to the study of nucleon and nuclear properties. During the past year the activities of the group involved data analysis, design and construction of equipment, planning for new experiments, completion of papers and review articles for publication, writing of proposals for experiments, but very little actual data acquisition. Section II.A. described experiments at Bates Linear Accelerator Center. They include the following: electrodisintegration of deuteron; measurement of the elastic magnetic form factor of 3 He; coincidence measurement of the D(e,e'p) cross section; transverse form factors of 117 Sn; ground state magnetization density of 89 Y; and measurement of the 5th structure function in deuterium and 12 C. Section II.B. includes the following experiments at Stanford Linear Accelerator Center: deuteron threshold electrodisintegration; separation of charge and magnetic form factors of the neutron and proton; measurement of the X-, Q 2 , and A-dependence of R = σ L /σ T ; and analysis of 14.5 GeV electrons and positions scattered from gases in the PEP Storage Ring. Section III.C. includes the following experiments at NIKHEF and Lund: complementary studies of single-nucleon knockout and single-nucleon wave functions using electromagnetic interactions and single-particle densities of sd-shell nuclei. Section II.D. discusses preparations for future work at CEBAF: electronics for the CLAS region 1 drift chamber Section III. includes theoretical work on parity-violating electron scattering and nuclear structure

  6. Failure to thrive as primary feature in two patients with subtle chromosomal aneuploidy: Interstitial deletion 2q33

    Energy Technology Data Exchange (ETDEWEB)

    Grace, K.; Mulla, W.; Stump, T. [Children`s Hospital of Philadelpha, PA (United States)] [and others

    1994-09-01

    It is well known that patients with chromosomal aneuploidy present with multiple congenital anomalies and dysmorphia, and that they may have associated failure to thrive. However, rarely is failure to thrive the predominant presenting feature. We report two such patients. Patient 1 had a marked history of failure to thrive, (weight 50% for 5 1/2 months at 20 months, length 50% for 15 months at 20 months). Patient 2 was noted to be growth retarded at 2 months upon presenting to the hospital with respiratory symptoms (weight 50% for a newborn, length 50% for 36 weeks gestation). There was relative head sparing in both patients. Chromosome analysis in patient 1, prompted by a negative work-up for the failure to thrive, and emerging evidence of developmental delay, revealed a 46,XY,del(2)(q32.2q33) karyotype. Chromosome analysis in patient 2, done as part of a complete workup for the failure to thrive, revealed a 46,XX,del(2)(q33.2q33.2 or q33.2q33.3) karyotype. On careful examination, subtle dysmorphic features were seen. In both patients these included a long flat philtrum, thin upper lip and high arched palate. Patient 1 also had a small posterior cleft of the palate. These patients have the smallest interstitial deletions of chromosome 2 so far reported. Their deletions overlap within 2q33 although they are not identical. Review of the literature reveals 15 patients with interstitial deletions which include 2q33. Marked growth retardation is reported in 14 of these cases. Cleft palate/abnormal uvula were frequently associated. These cases illustrate the need to include high resolution chromosomal studies as part of a complete work-up for unexplained failure to thrive.

  7. Determination of the K/sub L/0 → π-μ+ν/sub μ/ form factor xi(q2) by muon polarization measurements

    International Nuclear Information System (INIS)

    Shen, G.

    1975-09-01

    The polarization of the muon in the decay K 0 /sub L/ → π - μ + ν/sub μ/ was measured as a function of q 2 , the four-momentum transferred to the lepton pair. The kinematic information was used to compute the polarization expected on the basis of various assumed values of the form factor xi(q 2 ). By comparing the interpolated curve of the polarization as a function of xi(q 2 ) to the experimentally measured polarization, one has determined xi(q 2 ) as a function of q 2 . If one parameterizes the q 2 dependence of xi by xi(q 2 ) = xi(0) + Λ q 2 /m 2 /sub π/, then xi(0) = 0.178 +- 0.105 - 3.80 Λ

  8. How does gravity save or kill Q-balls?

    International Nuclear Information System (INIS)

    Tamaki, Takashi; Sakai, Nobuyuki

    2011-01-01

    We explore stability of gravitating Q-balls with potential V 4 (φ)=(m 2 /22 -λφ 4 +(φ 6 /M 2 ) via catastrophe theory, as an extension of our previous work on Q-balls with potential V 3 (φ)=(m 2 /22 -μφ 3 +λφ 4 . In flat spacetime Q-balls with V 4 in the thick-wall limit are unstable and there is a minimum charge Q min , where Q-balls with Q min are nonexistent. If we take self-gravity into account, on the other hand, there exist stable Q-balls with arbitrarily small charge, no matter how weak gravity is. That is, gravity saves Q-balls with small charge. We also show how stability of Q-balls changes as gravity becomes strong.

  9. ‘Cut in two’, Part 2: Reconsidering the redaction of Q 12:42−46

    Directory of Open Access Journals (Sweden)

    Llewellyn Howes

    2015-06-01

    Full Text Available In his influential 1987 monograph, Kloppenborg identified three layers in the Sayings Gospel Q: the ‘formative stratum’ (or Q¹, the ‘main redaction’ (or Q², and the ‘final recension’ (or Q³. He ascribed the cluster of sayings in Q 12:39–59 to the main redaction. Within this cluster appears the parable of the loyal and wise slave (Q 12:42–46. In my view, some portions of this parable actually originate with the formative stratum. The aim of the current article is to reconsider the redactional make-up of this parable by appealing to Kloppenborg’s own criteria for distinguishing between Q1 and Q2, including those of ‘characteristic forms’, ‘characteristic motifs’ and ‘implied audience’.

  10. A Java program for LRE-based real-time qPCR that enables large-scale absolute quantification.

    Science.gov (United States)

    Rutledge, Robert G

    2011-03-02

    Linear regression of efficiency (LRE) introduced a new paradigm for real-time qPCR that enables large-scale absolute quantification by eliminating the need for standard curves. Developed through the application of sigmoidal mathematics to SYBR Green I-based assays, target quantity is derived directly from fluorescence readings within the central region of an amplification profile. However, a major challenge of implementing LRE quantification is the labor intensive nature of the analysis. Utilizing the extensive resources that are available for developing Java-based software, the LRE Analyzer was written using the NetBeans IDE, and is built on top of the modular architecture and windowing system provided by the NetBeans Platform. This fully featured desktop application determines the number of target molecules within a sample with little or no intervention by the user, in addition to providing extensive database capabilities. MS Excel is used to import data, allowing LRE quantification to be conducted with any real-time PCR instrument that provides access to the raw fluorescence readings. An extensive help set also provides an in-depth introduction to LRE, in addition to guidelines on how to implement LRE quantification. The LRE Analyzer provides the automated analysis and data storage capabilities required by large-scale qPCR projects wanting to exploit the many advantages of absolute quantification. Foremost is the universal perspective afforded by absolute quantification, which among other attributes, provides the ability to directly compare quantitative data produced by different assays and/or instruments. Furthermore, absolute quantification has important implications for gene expression profiling in that it provides the foundation for comparing transcript quantities produced by any gene with any other gene, within and between samples.

  11. NK Cell Receptor/H2-Dk–Dependent Host Resistance to Viral Infection Is Quantitatively Modulated by H2 q Inhibitory Signals

    Science.gov (United States)

    Fodil-Cornu, Nassima; Loredo-Osti, J. Concepción; Vidal, Silvia M.

    2011-01-01

    The cytomegalovirus resistance locus Cmv3 has been linked to an epistatic interaction between two loci: a Natural Killer (NK) cell receptor gene and the major histocompatibility complex class I (MHC-I) locus. To demonstrate the interaction between Cmv3 and H2k, we generated double congenic mice between MA/My and BALB.K mice and an F2 cross between FVB/N (H-2q) and BALB.K (H2k) mice, two strains susceptible to mouse cytomegalovirus (MCMV). Only mice expressing H2k in conjunction with Cmv3MA/My or Cmv3FVB were resistant to MCMV infection. Subsequently, an F3 cross was carried out between transgenic FVB/H2-Dk and MHC-I deficient mice in which only the progeny expressing Cmv3FVB and a single H2-Dk class-I molecule completely controlled MCMV viral loads. This phenotype was shown to be NK cell–dependent and associated with subsequent NK cell proliferation. Finally, we demonstrated that a number of H2q alleles influence the expression level of H2q molecules, but not intrinsic functional properties of NK cells; viral loads, however, were quantitatively proportional to the number of H2q alleles. Our results support a model in which H-2q molecules convey Ly49-dependent inhibitory signals that interfere with the action of H2-Dk on NK cell activation against MCMV infection. Thus, the integration of activating and inhibitory signals emanating from various MHC-I/NK cell receptor interactions regulates NK cell–mediated control of viral load. PMID:21533075

  12. Measurements of the Electric Form Factor of the Neutron at Q2=0.45 and 1.13 (GeV/c)2

    International Nuclear Information System (INIS)

    Shigeyuki Tajima

    2003-01-01

    Precise measurements of the electric form factor of the neutron, Gn E, over a wide range of the square of the four-momentum transfer, Q2, are important for understanding nucleon and nuclear electromagnetic structure. In the non-relativistic limit, the electric and magnetic form factors are related to the charge and magnetization distribution inside a nucleon, respectively. The measured values of the form factors also serve as an important test for nucleon models. Among the four nucleon form factors, the electric form factor of the neutron, Gn E, is the most difficult one to measure and therefore has been very poorly known especially in the region Q2 > 1 (GeV/c)2 due to the lack of a free neutron target and the small value of Gn E. The Jefferson Laboratory E93-038 collaboration measured the ratio of the electric to magnetic form factor of the neutron, g = Gn E/Gn M, at three acceptance-averaged Q2 values of 0.45, 1.13 and 1.45 (GeV/c)2 using the quasi-elastic 2H(∼e, e0∼n)1H reaction. In our experiment, an electron was scattered quasielastically from a neutron in a liquid-deuterium target, and the electron was detected in an electron spectrometer in coincidence with the neutron which was detected in a neutron polarimeter. The polarimeter was used to analyze the polarization of the recoil neutrons by measuring the np elastic scattering asymmetry. The experiment was performed in Hall-C at Thomas Jefferson National Accelerator Facility during the period from September 2000 to April 2001. The value of g was determined from the measured ratio of the sideways and longitudinal components of the neutron polarization vector. The values for Gn E were computed from our measured values of g = Gn E/Gn M using the Gn M values obtained from a fit to the world data. The E93-038 collaboration reported the first measurements of Gn E using polarization techniques at Q2 greater than 1 (GeV/c)2. Furthermore, our measurements of Gn E at the two higher Q2 values of 1.13 and 1.45 (Ge

  13. One Adaptive Synchronization Approach for Fractional-Order Chaotic System with Fractional-Order 1 < q < 2

    Science.gov (United States)

    Zhou, Ping; Bai, Rongji

    2014-01-01

    Based on a new stability result of equilibrium point in nonlinear fractional-order systems for fractional-order lying in 1 < q < 2, one adaptive synchronization approach is established. The adaptive synchronization for the fractional-order Lorenz chaotic system with fractional-order 1 < q < 2 is considered. Numerical simulations show the validity and feasibility of the proposed scheme. PMID:25247207

  14. Nuclear effects in the F3 structure function for finite and asymptotic Q2

    International Nuclear Information System (INIS)

    Kulagin, S.A.

    1998-01-01

    We study nuclear effects in the structure function F 3 which describes the parity violating part of the charged-current neutrino nucleon deep inelastic scattering. Starting from a covariant approach we derive a factorized expression for the nuclear structure function in terms of the nuclear spectral function and off-shell nucleon structure functions valid for arbitrary momentum transfer Q and in the limit of weak nuclear binding, i.e. when a nucleus can be treated as a non-relativistic system. We develop a systematic expansion of nuclear structure functions in terms of a Q -2 series caused by nuclear effects (''nuclear twist'' series). Basing ourselves on this expansion we calculate nuclear corrections to the Gross-Llewellyn-Smith sum rule as well as to higher moments of F 3 . We show that corrections to the GLS sum rule due to nuclear effects cancel out in the Bjorken limit and calculate the corresponding Q -2 correction. Special attention is paid to the discussion of the off-shell effects in the structure functions. A sizable impact of these effects both on the Q 2 and x dependence of nuclear structure functions is found. (orig.)

  15. The clinical presentation of attention deficit‐hyperactivity disorder (ADHD) in children with 22q11.2 deletion syndrome

    Science.gov (United States)

    Martin, Joanna; Thapar, Anita; Owen, Michael J.

    2015-01-01

    Background: Although attention deficit‐hyperactivity disorder (ADHD) is the most prevalent psychiatric disorder in children with 22q11.2DS, it remains unclear whether its clinical presentation is similar to that in children with idiopathic ADHD. The aim of this study is to compare the ADHD phenotype in children with and without 22q11.2DS by examining ADHD symptom scores, patterns of psychiatric comorbidity, IQ and gender distribution. Methods: Forty‐four children with 22q11.2DS and ADHD (mean age = 9.6), 600 clinic children (mean age = 10.8) and 77 children with ADHD from a population cohort (mean age = 10.8) participated in the study. Psychopathology was assessed using parent‐report research diagnostic instruments. Results: There was a higher proportion of females in the 22q11.2DS ADHD sample in relation to the clinical sample (χ2 = 18.2, P ADHD inattentive subtype (χ2 = 114.76, P ADHD group parents reported fewer oppositional defiant disorder/conduct disorder symptoms (z = 6.33, P ADHD sample had received ADHD treatment. The results were similar when the 22q11.2 ADHD group was compared to the population cohort ADHD group. Conclusions: The clinical presentation of ADHD and patterns of co‐morbidity in 22q11.2DS is different from that in idiopathic ADHD. This could lead to clinical under‐recognition of ADHD in this group. Examining psychopathology in 22q11.2DS can provide insights into the genetic origins of psychiatric problems with implications beyond the 22q11.2DS population. © 2015 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Published by Wiley Periodicals, Inc. PMID:26400629

  16. Coenzyme Q10 Protects Hippocampal Neurons Against Ischemia/Reperfusion Injury via Modulation of BAX/Bcl-2 Expression

    Directory of Open Access Journals (Sweden)

    M Zamani

    2012-12-01

    Full Text Available Introduction : Preliminary studies confirmed reduction in cell death following treatment with antioxidants. According to this finding we study the relationship between consumption of CoQ10 and expression of bax and bcl2 in hippocampus following ischemia/reperfusion as proteins involved in cell programmed death or apoptosis.Material & methods : We studied the protective role of CoQ10 against Ischemia-Reperfusion. Experimental design includes four groups: intact, ischemic control, sham control and treatment groups with CoQ10. The mice treated with CoQ10 as Pre - Treatment for a week. Then, ischemia induced by common carotid artery ligation and following the reduction in inflammation (a week the mice post-treated with CoQ10.Nissl staining applied to counting necrotic cells of hippocampus and the western blotting performed to measurement the bax and bcl2 expression.Results :. Cell death was significantly lower when mice treated with CoQ10. Bax expression was significantly high in ischemic group but in treatment group was less and reversely the bcl2 expression in ischemic group was lower than treatment and vehicle groups.Conclusion : Ischemia for 15 minutes induced cell death in hippocampus with more potent effect on CA1. CoQ10 intake significantly reduced cell death and prevented the expression of bax while inducing an increase in expression of bcl2.

  17. The 3-loop non-singlet heavy flavor contributions and anomalous dimensions for the structure function F2(x,Q2 and transversity

    Directory of Open Access Journals (Sweden)

    J. Ablinger

    2014-09-01

    Full Text Available We calculate the massive flavor non-singlet Wilson coefficient for the heavy flavor contributions to the structure function F2(x,Q2 in the asymptotic region Q2≫m2 and the associated operator matrix element Aqq,Q(3,NS(N to 3-loop order in Quantum Chromodynamics at general values of the Mellin variable N. This matrix element is associated with the vector current and axial vector current for the even and the odd moments N, respectively. We also calculate the corresponding operator matrix elements for transversity, compute the contributions to the 3-loop anomalous dimensions to O(NF and compare to results in the literature. The 3-loop matching of the flavor non-singlet distribution in the variable flavor number scheme is derived. All results can be expressed in terms of nested harmonic sums in N space and harmonic polylogarithms in x-space. Numerical results are presented for the non-singlet charm quark contribution to F2(x,Q2.

  18. The 3-loop non-singlet heavy flavor contributions and anomalous dimensions for the structure function F2(x,Q2) and transversity

    International Nuclear Information System (INIS)

    Ablinger, J.; Hasselhuhn, A.; Schneider, C.; Manteuffel, A. von

    2014-06-01

    We calculate the massive flavor non-singlet Wilson coefficient for the heavy flavor contributions to the structure function F 2 (x,Q 2 ) in the asymptotic region Q 2 >>m 2 and the associated operator matrix element A (3),NS qq,Q (N) to 3-loop order in Quantum Chromodynamics at general values of the Mellin variable N. This matrix element is associated to the vector current and axial vector current for the even and the odd moments N, respectively. We also calculate the corresponding operator matrix elements for transversity, compute the contributions to the 3-loop anomalous dimensions to O(N F ) and compare to results in the literature. The 3-loop matching of the flavor non-singlet distribution in the variable flavor number scheme is derived. All results can be expressed in terms of nested harmonic sums in N space and harmonic polylogarithms in x-space. Numerical results are presented for the non-singlet charm quark contribution to F 2 (x,Q 2 ).

  19. The 3-loop non-singlet heavy flavor contributions and anomalous dimensions for the structure function F2(x,Q2) and transversity

    International Nuclear Information System (INIS)

    Ablinger, J.; Behring, A.; Blümlein, J.; De Freitas, A.; Hasselhuhn, A.; Manteuffel, A. von; Round, M.; Schneider, C.; Wißbrock, F.

    2014-01-01

    We calculate the massive flavor non-singlet Wilson coefficient for the heavy flavor contributions to the structure function F 2 (x,Q 2 ) in the asymptotic region Q 2 ≫m 2 and the associated operator matrix element A qq,Q (3),NS (N) to 3-loop order in Quantum Chromodynamics at general values of the Mellin variable N. This matrix element is associated with the vector current and axial vector current for the even and the odd moments N, respectively. We also calculate the corresponding operator matrix elements for transversity, compute the contributions to the 3-loop anomalous dimensions to O(N F ) and compare to results in the literature. The 3-loop matching of the flavor non-singlet distribution in the variable flavor number scheme is derived. All results can be expressed in terms of nested harmonic sums in N space and harmonic polylogarithms in x-space. Numerical results are presented for the non-singlet charm quark contribution to F 2 (x,Q 2 )

  20. How does gravity save or kill Q-balls?

    OpenAIRE

    Tamaki, Takashi; Sakai, Nobuyuki

    2011-01-01

    We explore stability of gravitating Q-balls with potential $V_4(\\phi)={m^2\\over2}\\phi^2-\\lambda\\phi^4+\\frac{\\phi^6}{M^2}$ via catastrophe theory, as an extension of our previous work on Q-balls with potential $V_3(\\phi)={m^2\\over2}\\phi^2-\\mu\\phi^3+\\lambda\\phi^4$. In flat spacetime Q-balls with $V_4$ in the thick-wall limit are unstable and there is a minimum charge $Q_{{\\rm min}}$, where Q-balls with $Q

  1. The proton structure function F sub 2 sup p (x, Q sup 2) at small x in the framework of extended Regge-Eikonal approach

    CERN Document Server

    Petrov, V A

    2001-01-01

    The behaviour of the proton structure function F sub 2 sup p (x, Q sup 2) in the region of small x is described in the framework of the generalized off-shell extention of the Regge-eikonal approach which automatically takes into account off-shell unitarity. A good quality is achieved of description of the experimental data for x < 10 sup - sup 2 and it is argued that the data on F sub 2 sup p (x, Q sup 2) measured at HERA can be fairly well described with classical universal Regge trajectories. No extra, hard trajectories of high intercept are needed for that. The x, Q sup 2 slopes and the effective intercept are discussed as functions of x and Q sup 2

  2. Genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree.

    Science.gov (United States)

    Bamashmus, M A; Downey, L M; Inglehearn, C F; Gupta, S R; Mansfield, D C

    2000-04-01

    Familial exudative vitreoretinopathy (FEVR) is associated with mutations in the Norrie disease gene in X linked pedigrees and with linkage to the EVR1 locus at 11q13 in autosomal dominant cases. A large autosomal dominant FEVR family was studied, both clinically and by linkage analysis, to determine whether it differed from the known forms of FEVR. Affected members and obligate gene carriers from this family were examined by slit lamp biomicroscopy, indirect ophthalmoscopy, and in some cases fluorescein angiography. Patient DNAs were genotyped for markers at the EVR1 locus on chromosome 11q13. The clinical evaluation in this family is consistent with previous descriptions of FEVR pedigrees, but linkage analysis proves that it has a form of FEVR genetically distinct from the EVR1 locus on 11q. This proves that there are at least three different loci associated with comparable FEVR phenotypes, a situation similar to that existing for many forms of retinal degeneration.

  3. X Q TANG

    Indian Academy of Sciences (India)

    Home; Journals; Bulletin of Materials Science. X Q TANG. Articles written in Bulletin of Materials Science. Volume 41 Issue 2 April 2018 pp 51. Effect of oxygen vacancies on Li-storage of anatase TiO 2 (001) facets: a first principles study · H CHEN Y H DING X Q TANG W ZHANG J R YIN P ZHANG Y JIANG · More Details ...

  4. Eye Gaze During Face Processing in Children and Adolescents with 22q11.2 Deletion Syndrome

    Science.gov (United States)

    Glaser, Bronwyn; Debbane, Martin; Ottet, Marie-Christine; Vuilleumier, Patrik; Zesiger, Pascal; Antonarakis, Stylianos E.; Eliez, Stephan

    2010-01-01

    Objective: The 22q11.2 deletion syndrome (22q11DS) is a neurogenetic syndrome with high risk for the development of psychiatric disorder. There is interest in identifying reliable markers for measuring and monitoring socio-emotional impairments in 22q11DS during development. The current study investigated eye gaze as a potential marker during a…

  5. Subtypes in 22q11.2 Deletion Syndrome Associated with Behaviour and Neurofacial Morphology

    Science.gov (United States)

    Sinderberry, Brooke; Brown, Scott; Hammond, Peter; Stevens, Angela F.; Schall, Ulrich; Murphy, Declan G. M.; Murphy, Kieran C.; Campbell, Linda E.

    2013-01-01

    22q11.2 deletion syndrome (22q11DS) has a complex phenotype with more than 180 characteristics, including cardiac anomalies, cleft palate, intellectual disabilities, a typical facial morphology, and mental health problems. However, the variable phenotype makes it difficult to predict clinical outcome, such as the high prevalence of psychosis among…

  6. Mathematical Learning Disabilities in Children with 22q11.2 Deletion Syndrome: A Review

    Science.gov (United States)

    De Smedt, Bert; Swillen, Ann; Verschaffel, Lieven; Ghesquiere, Pol

    2009-01-01

    Mathematical learning disabilities (MLD) occur frequently in children with specific genetic disorders, like Turner syndrome, fragile X syndrome and neurofibromatosis. This review focuses on MLD in children with chromosome 22q11.2 deletion syndrome (22q11DS). This syndrome is the most common known microdeletion syndrome with a prevalence of at…

  7. Measurement of F_2^ccbar and F_2^bbbar at High Q^2 using the H1 Vertex Detector at HERA

    CERN Document Server

    Aktas, A.; Anthonis, T.; Aplin, S.; Asmone, A.; Babaev, A.; Backovic, S.; Bahr, J.; Baghdasaryan, A.; Baranov, P.; Barrelet, E.; Bartel, W.; Baudrand, S.; Baumgartner, S.; Becker, J.; Beckingham, M.; Behnke, O.; Behrendt, O.; Belousov, A.; Berger, Ch.; Berger, N.; Berndt, T.; Bizot, J.C.; Bohme, J.; Boenig, M.-O.; Boudry, V.; Bracinik, J.; Brandt, G.; Brisson, V.; Broker, H.-B.; Brown, D.P.; Bruncko, D.; Busser, F.W.; Bunyatyan, A.; Buschhorn, G.; Bystritskaya, L.; Campbell, A.J.; Caron, S.; Cassol-Brunner, F.; Cerny, K.; Chekelian, V.; Contreras, J.G.; Coppens, Y.R.; Coughlan, J.A.; Cox, B.E.; Cozzika, G.; Cvach, J.; Dainton, J.B.; Dau, W.D.; Daum, K.; Delcourt, B.; Demirchyan, R.; De Roeck, A.; Desch, K.; De Wolf, E.A.; Diaconu, C.; Dingfelder, J.; Dodonov, V.; Dubak, A.; Duprel, C.; Eckerlin, Guenter; Efremenko, V.; Egli, S.; Eichler, R.; Eisele, F.; Ellerbrock, M.; Elsen, E.; Erdmann, W.; Essenov, S.; Faulkner, P.J.W.; Favart, L.; Fedotov, A.; Felst, R.; Ferencei, J.; Finke, L.; Fleischer, M.; Fleischmann, P.; Fleming, Y.H.; Flucke, G.; Flugge, G.; Fomenko, A.; Foresti, I.; Formanek, J.; Franke, G.; Frising, G.; Frisson, T.; Gabathuler, E.; Gabathuler, K.; Garutti, E.; Garvey, J.; Gayler, J.; Gerhards, R.; Gerlich, C.; Ghazaryan, Samvel; Ginzburgskaya, S.; Glazov, A.; Glushkov, I.; Goerlich, L.; Goettlich, M.; Gogitidze, N.; Gorbounov, S.; Goyon, C.; Grab, C.; Grassler, H.; Greenshaw, T.; Gregori, M.; Grindhammer, Guenter; Gwilliam, C.; Haidt, D.; Hajduk, L.; Haller, J.; Hansson, M.; Heinzelmann, G.; Henderson, R.C.W.; Henschel, H.; Henshaw, O.; Herrera, G.; Herynek, I.; Heuer, R.-D.; Hildebrandt, M.; Hiller, K.H.; Hoting, P.; Hoffmann, D.; Horisberger, R.; Hovhannisyan, A.; Ibbotson, M.; Ismail, M.; Jacquet, M.; Janauschek, L.; Janssen, X.; Jemanov, V.; Jonsson, L.; Johnson, D.P.; Jung, H.; Kant, D.; Kapichine, M.; Karlsson, M.; Katzy, J.; Keller, N.; Kenyon, I.R.; Kiesling, Christian M.; Klein, M.; Kleinwort, C.; Klimkovich, T.; Kluge, T.; Knies, G.; Knutsson, A.; Korbel, V.; Kostka, P.; Koutouev, R.; Kropivnitskaya, A.; Kruger, K.; Kuckens, J.; Landon, M.P.J.; Lange, W.; Lastovicka, T.; Laycock, P.; Lebedev, A.; Leiner, B.; Lemrani, R.; Lendermann, V.; Levonian, S.; Lindfeld, L.; Lipka, K.; List, B.; Lobodzinska, E.; Loktionova, N.; Lopez-Fernandez, R.; Lubimov, V.; Lueders, H.; Luke, D.; Lux, T.; Lytkin, L.; Makankine, A.; Malden, N.; Malinovski, E.; Mangano, S.; Marage, P.; Marks, J.; Marshall, R.; Martisikova, M.; Martyn, H.-U.; Maxeld, S.J.; Meer, D.; Mehta, A.; Meier, K.; Meyer, A.B.; Meyer, H.; Meyer, J.; Mikocki, S.; Milcewicz-Mika, I.; Milstead, D.; Mohamed, A.; Moreau, F.; Morozov, A.; Morris, J.V.; Mozer, Matthias Ulrich; Muller, K.; Murin, P.; Nagovizin, V.; Nankov, K.; Naroska, B.; Naumann, J.; Naumann, Th.; Newman, Paul R.; Niebuhr, C.; Nikiforov, A.; Nikitin, D.; Nowak, G.; Nozicka, M.; Oganezov, R.; Olivier, B.; Olsson, J.E.; Ozerov, D.; Pascaud, C.; Patel, G.D.; Peez, M.; Perez, E.; Perez-Astudillo, D.; Perieanu, A.; Petrukhin, A.; Pitzl, D.; Placakyte, R.; Poschl, R.; Portheault, B.; Povh, B.; Prideaux, P.; Raicevic, N.; Reimer, P.; Rimmer, A.; Risler, C.; Rizvi, E.; Robmann, P.; Roland, B.; Roosen, R.; Rostovtsev, A.; Rurikova, Z.; Rusakov, S.; Salvaire, F.; Sankey, D.P.C.; Sauvan, E.; Schatzel, S.; Scheins, J.; Schilling, F.-P.; Schmidt, S.; Schmitt, S.; Schmitz, C.; Schneider, M.; Schoeffel, L.; Schoning, A.; Schroder, V.; Schultz-Coulon, H.-C.; Schwanenberger, C.; Sedlak, K.; Sefkow, F.; Sheviakov, I.; Shtarkov, L.N.; Sirois, Y.; Sloan, T.; Smirnov, P.; Soloviev, Y.; South, D.; Spaskov, V.; Specka, Arnd E.; Stella, B.; Stiewe, J.; Strauch, I.; Straumann, U.; Tchoulakov, V.; Thompson, Graham; Thompson, P.D.; Tomasz, F.; Traynor, D.; Truoel, Peter; Tsipolitis, G.; Tsurin, I.; Turnau, J.; Tzamariudaki, E.; Uraev, A.; Urban, Marcel; Usik, A.; Utkin, D.; Valkar, S.; Valkarova, A.; Vallee, C.; Van Mechelen, P.; Van Remortel, N.; Vargas Trevino, A.; Vazdik, Y.; Veelken, C.; Vest, A.; Vinokurova, S.; Volchinski, V.; Vujicic, B.; Wacker, K.; Wagner, J.; Weber, G.; Weber, R.; Wegener, D.; Werner, C.; Werner, N.; Wessels, M.; Wessling, B.; Wigmore, C.; Winter, G.-G.; Wissing, Ch.; Woehrling, E.-E.; Wolf, R.; Wunsch, E.; Xella, S.; Yan, W.; Yeganov, V.; Zacek, J.; Zalesak, J.; Zhang, Z.; Zhelezov, A.; Zhokin, A.; Zimmermann, J.; Zohrabyan, H.; Zomer, F.

    2004-01-01

    Measurements are presented of inclusive charm and beauty cross sections in e^+p collisions at HERA for values of photon virtuality Q^2 > 150 GeV^2 and of inelasticity 0.1 < y < 0.7. The charm and beauty fractions are determined using a method based on the impact parameter, in the transverse plane, of tracks to the primary vertex, as measured by the H1 vertex detector. The data are divided into four regions in Q^2 and Bjorken x, and values for the structure functions F_2^{c\\bar{c}} and F_2^{b\\bar{b}} are obtained. The results are found to be compatible with the predictions of perturbative quantum chromodynamics.

  8. Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2-q13.31 microdeletion.

    Science.gov (United States)

    Quintela, Ines; Gomez-Guerrero, Lorena; Fernandez-Prieto, Montse; Resches, Mariela; Barros, Francisco; Carracedo, Angel

    2015-12-01

    In recent years, the advent of comparative genomic hybridization (CGH) and single nucleotide polymorphism (SNP) arrays and its use as a first genetic test for the diagnosis of patients with neurodevelopmental phenotypes has allowed the identification of novel submicroscopic chromosomal abnormalities (namely, copy number variants or CNVs), imperceptible by conventional cytogenetic techniques. The 3q13.31 microdeletion syndrome (OMIM #615433) has been defined as a genomic disorder mainly characterized by developmental delay, postnatal overgrowth, hypotonia, genital abnormalities in males, and characteristic craniofacial features. Although the 3q13.31 CNVs are variable in size, a 3.4 Mb recurrently altered region at 3q13.2-q13.31 has been recently described and non-allelic homologous recombination (NAHR) mediated by flanking human endogenous retrovirus (HERV-H) elements has been suggested as the mechanism of deletion formation. We expand the phenotypic spectrum associated with this recurrent deletion performing the clinical description of a 9-year-old female patient with autistic disorder, total absence of language, intellectual disability, anxiety disorder and disruptive, and compulsive eating behaviors. The array-based molecular karyotyping allowed the identification of a de novo recurrent 3q13.2-q13.31 deletion encompassing 25 genes. In addition, we compare her clinical phenotype with previous reports of patients with neurodevelopmental and behavioral disorders and proximal 3q microdeletions. Finally, we also review the candidate genes proposed so far for these phenotypes. © 2015 Wiley Periodicals, Inc.

  9. Investigation into the limits of perturbation theory at low Q{sup 2} using HERA deep inelastic scattering data

    Energy Technology Data Exchange (ETDEWEB)

    Abt, I. [Max-Planck-Institut fuer Physik, Muenchen (Germany). Werner-Heisenberg-Institut; Cooper-Sarkar, A.M. [Oxford Univ. (United Kingdom). Dept. of Physics; Foster, B. [Oxford Univ. (United Kingdom). Dept. of Physics; Hamburg Univ. (Germany). I. Inst. of Experimental Physics; Deutsches Elektronen-Synchrotron (DESY), Hamburg (Germany); Myronenko, V.; Wichmann, K. [Deutsches Elektronen-Synchrotron (DESY), Hamburg (Germany); Wing, M. [University College London (United Kingdom). Dept. of Physics and Astronomy

    2017-07-18

    A phenomenological study of the final combined HERA data on inclusive deep inelastic scattering (DIS) has been performed. The data are presented and investigated for a kinematic range extending from values of the four-momentum transfer, Q{sup 2}, above 10{sup 4} GeV{sup 2} down to the lowest values observable at HERA of Q{sup 2}=0.045 GeV{sup 2} and Bjorken x, x{sub Bj}=6.10{sup -7}. The data are well described by fits based on perturbative quantum chromodynamics (QCD) using collinear factorisation and evolution of the parton densities encompassed in the DGLAP formalism from the highest Q{sup 2} down to Q{sup 2} of a few GeV{sup 2}. The Regge formalism with the soft Pomeron pole can describe the data up to Q{sup 2}∼0.65 GeV{sup 2}. The complete data set can be described by a new fit using the Abramowicz-Levin-Levy-Maor (ALLM) parameterisation. The region between the Regge and the perturbative QCD regimes is of particular interest.

  10. Measurement of charged and neutral current e-p deep inelastic scattering cross sections at high Q2

    International Nuclear Information System (INIS)

    Derrick, M.; Krakauer, D.; Magill, S.; Mikunas, D.; Musgrave, B.; Repond, J.; Stanek, R.; Talaga, R.L.; Zhang, H.; Ayad, R.; Bari, G.; Basile, M.; Bellagamba, L.; Boscherini, D.; Bruni, A.; Bruni, G.; Bruni, P.; Cara Romeo, G.; Castellini, G.; Chiarini, M.; Cifarelli, L.; Cindolo, F.; Contin, A.; Corradi, M.; Gialas, I.; Giusti, P.; Iacobucci, G.; Laurenti, G.; Levi, G.; Margotti, A.; Massam, T.; Nania, R.; Nemoz, C.; Palmonari, F.; Polini, A.; Sartorelli, G.; Timellini, R.; Zamora Garcia, Y.; Zichichi, A.; Bargende, A.; Crittenden, J.; Desch, K.; Diekmann, B.; Doeker, T.; Eckert, M.; Feld, L.; Frey, A.; Geerts, M.; Geitz, G.; Grothe, M.; Haas, T.; Hartmann, H.; Haun, D.; Heinloth, K.; Hilger, E.; Jakob, H.; Katz, U.F.; Mari, S.M.; Mass, A.; Mengel, S.; Mollen, J.; Paul, E.; Rembser, C.; Schattevoy, R.; Schramm, D.; Stamm, J.; Wedemeyer, R.; Campbell-Robson, S.; Cassidy, A.; Dyce, N.; Foster, B.; George, S.; Gilmore, R.; Heath, G.P.; Heath, H.F.; Llewellyn, T.J.; Morgado, C.J.S.; Norman, D.J.P.; O'Mara, J.A.; Tapper, R.J.; Wilson, S.S.; Yoshida, R.; Rau, R.R.; Arneodo, M.; Iannotti, L.; Schioppa, M.; Susinno, G.; Bernstein, A.; Caldwell, A.; Cartiglia, N.; Parsons, J.A.; Ritz, S.; Sciulli, F.; Straub, P.B.; Wai, L.; Yang, S.; Zhu, Q.; Borzemski, P.; Chwastowski, J.; Eskreys, A.; Piotrzkowski, K.; Zachara, M.; Zawiejski, L.; Adamczyk, L.; Bednarek, B.; Jelen, K.; Kisielewska, D.; Kowalski, T.; Rulikowska-Zarebska, E.; Suszycki, L.; Zajac, J.; Kotanski, A.; Przybycien, M.; Bauerdick, L.A.T.; Behrens, U.; Beier, H.; Bienlein, J.K.; Coldewey, C.; Deppe, O.; Desler, K.; Drews, G.; Flasinski, M.; Gilkinson, D.J.; Glasman, C.; Goettlicher, P.; Grosse-Knetter, J.; Gutjahr, B.; Hain, W.; Hasell, D.; Hessling, H.; Hultschig, H.; Iga, Y.; Joos, P.; Kasemann, M.; Klanner, R.; Koch, W.; Koepke, L.; Koetz, U.; Kowalski, H.; Labs, J.; Ladage, A.; Loehr, B.; Loewe, M.; Lueke, D.; Manczak, O.; Ng, J.S.T.; Nickel, S.; Notz, D.; Ohrenberg, K.; Roco, M.; Rohde, M.

    1995-01-01

    Deep inelastic e - p scattering has been studied in both the charged current (CC) and neutral current (NC) reactions at momentum transfers squared Q 2 above 400GeV 2 using the ZEUS detector at the HERA ep collider. The CC and NC total cross sections, the NC to CC cross section ratio, and the differential cross sections dσ/dQ 2 are presented. From the Q 2 dependence of the CC cross section, the mass term in the CC propagator is determined to be M W =76±16±13 GeV

  11. Evidence for short range corelations from high Q{sup 2} (e,e{prime}) reactions

    Energy Technology Data Exchange (ETDEWEB)

    Strikman, M.I. [Pennsylvania State Univ., University Park, PA (United States); Frankfurt, L.L.; Sargayan, M.M. [Tel Aviv Univ. (Iceland)] [and others

    1994-04-01

    For many years now short-range correlations (SRC) in nuclei have been considered as an essential feature of the nuclear wave function. At high energy (e,e{prime}) reactions, where Q{sup 2} > 1 (GeV/c){sup 2}, x = Q{sup 2}/2mq{sub o} > 1 and 1 GeV > q{sub o}> 300 {approximately} 400 MeV the scattering from low momentum nucleons is kinematically suppressed and there the evidence of SRC expected to be more prominent. These reactions have been intensively investigated during the last decade or so at SLAC on both light and heavy nuclei. The above kinematics allows one to compute the cross section through the processes local in space. To explain this the authors analyse the representation of the cross section as a Fourier transform of the commutator of electromagnetic currents and see that the major contribution in the cross section is given by the region of integration.

  12. Daughter Species Abundances in Comet C/2014 Q2 (Lovejoy)

    Science.gov (United States)

    McKay, Adam; Cochran, Anita; Dello Russo, Neil; Kelley, Michael

    2015-11-01

    We present analysis of high spectral resolution optical spectra of C/2014 Q2 (Lovejoy) acquired with the Tull Coude spectrometer on the 2.7-meter Harlan J. Smith Telescope at McDonald Observatory and the ARCES spectrometer mounted on the 3.5-meter Astrophysical Research Consortium Telescope at Apache Point Observatory. Both Tull Coude and ARCES provide high spectral resolution (R=30,000-60,000) and a large spectral range of approximately 3500-10000 Angstroms. We obtained two observation epochs, one in February 2015 at a heliocentric distance of 1.3 AU, and another in May 2015 at a heliocentric distance of 1.9 AU. Another epoch in late August 2015 at a heliocentric distance of 3.0 AU is scheduled. We will present production rates of the daughter species CN, C3, CH, C2, and NH2. We will also present H2O production rates derived from the [OI]6300 emission, as well as measurements of the flux ratio of the [OI]5577 Angstrom line to the sum of the [OI]6300 and [OI]6364 Angstrom lines (sometimes referred to as the oxygen line ratio). This ratio is indicative of the CO2 abundance of the comet. As we have observations at several heliocentric distances, we will examine how production rates and mixing ratios of the various species change with heliocentric distance. We will compare our oxygen line measurements to observations of CO2 made with Spitzer, as well as our other daughter species observations to those of candidate parent molecules made at IR wavelengths.

  13. Comparative genomic hybridization analysis detects frequent over-representation of DNA sequences at 3q, 7p, 8q and 18q in head and neck carcinomas

    DEFF Research Database (Denmark)

    Bergamo, N A; Rogatto, S R; Poli-Frederico, R C

    2000-01-01

    Comparative genomic hybridization (CGH) was used to identify chromosomal imbalances in 19 samples of squamous cell carcinoma of the head and neck (HNSCC). The chromosome arms most often over-represented were 3q (48%), 8q (42%), and 7p (32%); in many cases, these changes were observed at high copy...... and 2q material were detected in patients exhibiting a clinical history of recurrence and/or metastasis followed by terminal disease. This association suggests that gain of 1q and 2q may be a new marker of head and neck tumors with a refractory clinical response....

  14. Normal edge-transitive and $ frac{1}{2}$-arc-transitive Cayley graphs on non-abelian groups of order $2pq$ , $p > q$ are primes

    Directory of Open Access Journals (Sweden)

    Ali Reza Ashrafi

    2016-09-01

    Full Text Available Darafsheh and Assari in [Normal edge-transitive Cayley graphs onnon-abelian groups of order 4p, where p is a prime number,Sci. China Math. {bf 56} (1 (2013 213$-$219.] classified the connected normal edge transitive and$frac{1}{2}-$arc-transitive Cayley graph of groups of order$4p$. In this paper we continue this work by classifying theconnected Cayley graph of groups of order $2pq$, $p > q$ areprimes. As a consequence it is proved that $Cay(G,S$ is a$frac{1}{2}-$edge-transitive Cayley graph of order $2pq$, $p> q$ if and only if $|S|$ is an even integer greater than 2, $S =T cup T^{-1}$ and $T subseteq { cba^{i} | 0 leq i leq p- 1}$ such that $T$ and $T^{-1}$ are orbits of $Aut(G,S$ andbegin{eqnarray*}G &=& langle a, b, c | a^p = b^q = c^2 = e, ac = ca, bc = cb, b^{-1}ab = a^r rangle,G &=& langle a, b, c | a^p = b^q = c^2 = e, c ac = a^{-1}, bc = cb, b^{-1}ab = a^r rangle,end{eqnarray*}where $r^q equiv 1 (mod p$.

  15. Subthreshold Psychosis in 22q11.2 Deletion Syndrome: Multisite Naturalistic Study.

    Science.gov (United States)

    Weisman, Omri; Guri, Yael; Gur, Raquel E; McDonald-McGinn, Donna M; Calkins, Monica E; Tang, Sunny X; Emanuel, Beverly; Zackai, Elaine H; Eliez, Stephan; Schneider, Maude; Schaer, Marie; Kates, Wendy R; Antshel, Kevin M; Fremont, Wanda; Shashi, Vandana; Hooper, Stephen R; Armando, Marco; Vicari, Stefano; Pontillo, Maria; Kushan, Leila; Jalbrzikowski, Maria; Bearden, Carrie E; Cubells, Joseph F; Ousley, Opal Y; Walker, Elaine F; Simon, Tony J; Stoddard, Joel; Niendam, Tara A; van den Bree, Marianne B M; Gothelf, Doron

    2017-09-01

    Nearly one-third of individuals with 22q11.2 deletion syndrome (22q11.2DS) develop a psychotic disorder during life, most of them by early adulthood. Importantly, a full-blown psychotic episode is usually preceded by subthreshold symptoms. In the current study, 760 participants (aged 6-55 years) with a confirmed hemizygous 22q11.2 microdeletion have been recruited through 10 medical sites worldwide, as part of an international research consortium. Of them, 692 were nonpsychotic and with complete measurement data. Subthreshold psychotic symptoms were assessed using the Structured Interview for Prodromal Syndromes (SIPS). Nearly one-third of participants met criteria for positive subthreshold psychotic symptoms (32.8%), less than 1% qualified for acute positive subthreshold symptoms, and almost a quarter met criteria for negative/disorganized subthreshold symptoms (21.7%). Adolescents and young adults (13-25 years) showed the highest rates of subthreshold psychotic symptoms. Additionally, higher rates of anxiety disorders and attention deficit/hyperactivity disorder (ADHD) were found among the study participants with subthreshold psychotic symptoms compared to those without. Full-scale IQ, verbal IQ, and global functioning (GAF) scores were negatively associated with participants' subthreshold psychotic symptoms. This study represents the most comprehensive analysis reported to date on subthreshold psychosis in 22q11.2DS. Novel findings include age-related changes in subthreshold psychotic symptoms and evidence that cognitive deficits are associated with subthreshold psychosis in this population. Future studies should longitudinally follow these symptoms to detect whether and how early identification and treatment of these manifestations can improve long-term outcomes in those that eventually develop a psychotic disorder. © The Author 2017. Published by Oxford University Press on behalf of the Maryland Psychiatric Research Center. All rights reserved. For

  16. One Adaptive Synchronization Approach for Fractional-Order Chaotic System with Fractional-Order 1<q<2

    Directory of Open Access Journals (Sweden)

    Ping Zhou

    2014-01-01

    Full Text Available Based on a new stability result of equilibrium point in nonlinear fractional-order systems for fractional-order lying in 1<q<2, one adaptive synchronization approach is established. The adaptive synchronization for the fractional-order Lorenz chaotic system with fractional-order 1<q<2 is considered. Numerical simulations show the validity and feasibility of the proposed scheme.

  17. Differentiated psychopharmacological treatment in three genetic subtypes of 22q11.2 deletion syndrome

    NARCIS (Netherlands)

    Verhoeven, W.M.A.; Egger, J.I.M.; Leeuw, N. de

    2017-01-01

    Introduction: The 22q11.2 deletion syndrome (22q11DS), mostly caused by the common deletion including the TBX- and COMT-genes (LCR22A-D), is highly associated with somatic anomalies. The distal deletion (distal of LCR22D) comprises the MAPK1-gene and is associated with specific heart defects. The

  18. Q2 evolution of a soft gluon distribution function

    International Nuclear Information System (INIS)

    Enkovskij, L.L.; Kotikov, A.V.; Pakkanoni, F.

    1992-01-01

    Model parameter dependence refferring to the function of gluon distribution linked with the exchange of a dipole pomeron from Q 2 is calculated within the framework of the Gribov-Lipatov-Altarelli-Parisi evolution equation (GLAP) both in the leading logarithm approximation and in the double logarithmic approximation. The behaviour of logarithmic parametrization ∼ (ln(1/x)) b appears to be unstable in relation to perturbative calculations

  19. Extraction of GEN at Q2 = 1 (GeV/c)2 from Measurements of polarized He(pol. e, e')

    Energy Technology Data Exchange (ETDEWEB)

    Jin, Ge [Univ. of Virginia, Charlottesville, VA (United States)

    2011-05-01

    The neutron electric form factor, GEN , is extracted for the first time at Q2 = 1 (GeV/c)2 from polarized 3$\\vec{He}$ ($\\vec{e}$ ,e ') measurements in Hall A at Jefferson Lab. By getting the ratio of asymmetries in longitudinal and transverse quasi-elastic 3$\\vec{He}$($\\vec{e}$,e ' ), the electric and magnetic contributions can be separated. The proton and neutron contributions to the 3 He quasi-elastic response functions are calculated in PWIA by Salme? et al., and the neutron electric form factor can be extracted. This method of inclusive scattering becomes feasible for the first time due to the falloff of the other form factors at high Q2 while G$n\\atop{E}$ keeps increasing in units of the dipole form factor. Approximately, 20% uncertainty is achieved in the extraction largely contributed by the statistical uncertainties from 3 days of data-taking. All aspects of the measurement will be discussed in this thesis including theoretical model, experiment setup and the details in the analysis.

  20. Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion

    Directory of Open Access Journals (Sweden)

    Marcília S. Grassi

    2014-11-01

    Full Text Available Background: To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS in patients with congenital heart disease (CHD. Objective: To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS. Methods: The study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M:F=1.3, age range 14 days to 20 years and 3 months at a pediatric reference center for primary immunodeficiencies. The diagnosis was established by detection of the 22q11.2 microdeletion using FISH (n = 18 and/or MLPA (n = 42, in association with clinical and laboratory information. Associated CHDs, progression of phenotypic facial features, hypocalcemia and immunological changes were analyzed. Results: CHDs were detected in 77% of the patients and the most frequent type was tetralogy of Fallot (38.3%. Surgical correction of CHD was performed in 34 patients. Craniofacial dysmorphisms were detected in 41 patients: elongated face (60% and/or elongated nose (53.3%, narrow palpebral fissure (50%, dysplastic, overfolded ears (48.3%, thin lips (41.6%, elongated fingers (38.3% and short stature (36.6%. Hypocalcemia was detected in 64.2% and decreased parathyroid hormone (PTH level in 25.9%. Decrease in total lymphocytes, CD4 and CD8 counts were present in 40%, 53.3% and 33.3%, respectively. Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM in two other patients. Conclusion: Suspicion for 22q11.2DS should be raised in all patients with CHD associated with hypocalcemia and/or facial dysmorphisms, considering that many of these changes may evolve with age. The 22q11.2 microdeletion should be confirmed by molecular testing in all patients.

  1. Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion

    International Nuclear Information System (INIS)

    Grassi, Marcília S.; Jacob, Cristina M. A.; Kulikowski, Leslie D.; Pastorino, Antonio C.; Dutra, Roberta L.; Miura, Nana; Jatene, Marcelo B.; Pegler, Stephanie P.; Kim, Chong A.; Carneiro-Sampaio, Magda

    2014-01-01

    To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD). To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS. The study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M:F=1.3, age range 14 days to 20 years and 3 months) at a pediatric reference center for primary immunodeficiencies. The diagnosis was established by detection of the 22q11.2 microdeletion using FISH (n = 18) and/or MLPA (n = 42), in association with clinical and laboratory information. Associated CHDs, progression of phenotypic facial features, hypocalcemia and immunological changes were analyzed. CHDs were detected in 77% of the patients and the most frequent type was tetralogy of Fallot (38.3%). Surgical correction of CHD was performed in 34 patients. Craniofacial dysmorphisms were detected in 41 patients: elongated face (60%) and/or elongated nose (53.3%), narrow palpebral fissure (50%), dysplastic, overfolded ears (48.3%), thin lips (41.6%), elongated fingers (38.3%) and short stature (36.6%). Hypocalcemia was detected in 64.2% and decreased parathyroid hormone (PTH) level in 25.9%. Decrease in total lymphocytes, CD4 and CD8 counts were present in 40%, 53.3% and 33.3%, respectively. Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM) in two other patients. Suspicion for 22q11.2DS should be raised in all patients with CHD associated with hypocalcemia and/or facial dysmorphisms, considering that many of these changes may evolve with age. The 22q11.2 microdeletion should be confirmed by molecular testing in all patients

  2. Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion

    Energy Technology Data Exchange (ETDEWEB)

    Grassi, Marcília S., E-mail: marcilia.grassi@hc.fm.usp.br; Jacob, Cristina M. A. [Instituto da Criança - HC-FMUSP, São Paulo, SP (Brazil); Kulikowski, Leslie D. [Departamento de Patologia da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP (Brazil); Pastorino, Antonio C. [Instituto da Criança - HC-FMUSP, São Paulo, SP (Brazil); Dutra, Roberta L. [Departamento de Patologia da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP (Brazil); Miura, Nana; Jatene, Marcelo B. [Instituto do Coração - HC-FMUSP, São Paulo, SP (Brazil); Pegler, Stephanie P.; Kim, Chong A.; Carneiro-Sampaio, Magda [Instituto da Criança - HC-FMUSP, São Paulo, SP (Brazil)

    2014-11-15

    To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD). To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS. The study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M:F=1.3, age range 14 days to 20 years and 3 months) at a pediatric reference center for primary immunodeficiencies. The diagnosis was established by detection of the 22q11.2 microdeletion using FISH (n = 18) and/or MLPA (n = 42), in association with clinical and laboratory information. Associated CHDs, progression of phenotypic facial features, hypocalcemia and immunological changes were analyzed. CHDs were detected in 77% of the patients and the most frequent type was tetralogy of Fallot (38.3%). Surgical correction of CHD was performed in 34 patients. Craniofacial dysmorphisms were detected in 41 patients: elongated face (60%) and/or elongated nose (53.3%), narrow palpebral fissure (50%), dysplastic, overfolded ears (48.3%), thin lips (41.6%), elongated fingers (38.3%) and short stature (36.6%). Hypocalcemia was detected in 64.2% and decreased parathyroid hormone (PTH) level in 25.9%. Decrease in total lymphocytes, CD4 and CD8 counts were present in 40%, 53.3% and 33.3%, respectively. Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM) in two other patients. Suspicion for 22q11.2DS should be raised in all patients with CHD associated with hypocalcemia and/or facial dysmorphisms, considering that many of these changes may evolve with age. The 22q11.2 microdeletion should be confirmed by molecular testing in all patients.

  3. The dynamics of the quasielastic 16O(e,e'p) reaction at Q2 = 0.8 (GeV/c)2

    International Nuclear Information System (INIS)

    Fissum, Kevin

    2004-01-01

    The physics program in Hall A at Jefferson Lab commenced in the summer of 1997 with a detailed investigation of the 16O(e,e'p) reaction in quasielastic, constant (q,w) kinematics at Q 2 ∼ 0.8 (GeV/c) 2 , q ∼ 1 GeV/c, and w ∼ 445 MeV. Use of a self-calibrating, self-normalizing, thin-film waterfall target enabled a systematically rigorous measurement. Differential cross-section data for proton knockout were obtained for 0 < Emiss < 120 MeV and 0 < pmiss < 350 MeV/c. These results have been used to extract the ALT asymmetry and the RL, RT, RLT, and RL+TT effective response functions. Detailed comparisons of the data with Relativistic Distorted-Wave Impulse Approximation, Relativistic Optical-Model Eikonal Approximation, and Relativistic Multiple-Scattering Glauber Approximation calculations are made. The kinematic consistency of the 1p-shell normalization factors extracted from these data with respect to all available 16O(e,e'p) data is examined. The Q2-dependence of the normalization factors is also discussed

  4. NK cell receptor/H2-Dk-dependent host resistance to viral infection is quantitatively modulated by H2q inhibitory signals.

    Science.gov (United States)

    Fodil-Cornu, Nassima; Loredo-Osti, J Concepción; Vidal, Silvia M

    2011-04-01

    The cytomegalovirus resistance locus Cmv3 has been linked to an epistatic interaction between two loci: a Natural Killer (NK) cell receptor gene and the major histocompatibility complex class I (MHC-I) locus. To demonstrate the interaction between Cmv3 and H2(k), we generated double congenic mice between MA/My and BALB.K mice and an F(2) cross between FVB/N (H-2(q)) and BALB.K (H2(k)) mice, two strains susceptible to mouse cytomegalovirus (MCMV). Only mice expressing H2(k) in conjunction with Cmv3(MA/My) or Cmv3(FVB) were resistant to MCMV infection. Subsequently, an F(3) cross was carried out between transgenic FVB/H2-D(k) and MHC-I deficient mice in which only the progeny expressing Cmv3(FVB) and a single H2-D(k) class-I molecule completely controlled MCMV viral loads. This phenotype was shown to be NK cell-dependent and associated with subsequent NK cell proliferation. Finally, we demonstrated that a number of H2(q) alleles influence the expression level of H2(q) molecules, but not intrinsic functional properties of NK cells; viral loads, however, were quantitatively proportional to the number of H2(q) alleles. Our results support a model in which H-2(q) molecules convey Ly49-dependent inhibitory signals that interfere with the action of H2-D(k) on NK cell activation against MCMV infection. Thus, the integration of activating and inhibitory signals emanating from various MHC-I/NK cell receptor interactions regulates NK cell-mediated control of viral load.

  5. On the q-exponential of matrix q-Lie algebras

    Directory of Open Access Journals (Sweden)

    Ernst Thomas

    2017-01-01

    Full Text Available In this paper, we define several new concepts in the borderline between linear algebra, Lie groups and q-calculus.We first introduce the ring epimorphism r, the set of all inversions of the basis q, and then the important q-determinant and corresponding q-scalar products from an earlier paper. Then we discuss matrix q-Lie algebras with a modified q-addition, and compute the matrix q-exponential to form the corresponding n × n matrix, a so-called q-Lie group, or manifold, usually with q-determinant 1. The corresponding matrix multiplication is twisted under τ, which makes it possible to draw diagrams similar to Lie group theory for the q-exponential, or the so-called q-morphism. There is no definition of letter multiplication in a general alphabet, but in this article we introduce new q-number systems, the biring of q-integers, and the extended q-rational numbers. Furthermore, we provide examples of matrices in suq(4, and its corresponding q-Lie group. We conclude with an example of system of equations with Ward number coeficients.

  6. Coenzyme Q10 Protects Hippocampal Neurons against Ischemia/ Reperfusion Injury via Modulation of BAX/Bcl-2 Expression

    Directory of Open Access Journals (Sweden)

    Mohammad Zamani

    2012-09-01

    Full Text Available Introduction: Preliminary studies have con.rmed reduction in cell death following treatment with antioxidants. According to this .nding we study the relationship between consumption of CoQ10 and expression of Bax and Bcl2 in hippocampus following ischemia/reperfusion as proteins involved in cell programmed death or apoptosis. Methods: We studied the protective role of CoQ10 against ischemia-reperfusion. Experimental design includes four groups:  intact, ischemic control, sham control and treatment group with CoQ10. The mice were pre-treated with CoQ10 for a week, then ischemia was induced by common carotid artery ligation and following the reduction in in.ammation (a week the mice was treated with CoQ10.  Nissl staining was applied for counting the necrotic cells of hippocampus and the western blot was performed to measure the Bax and Bcl2 expression.Results: Cell death was signi.cantly lower when mice were treated with CoQ10. Bax expression was signi.cantly high in the ischemic group but low in the treatment group, and the bcl2 expression was lower in the ischemic group than the treatment and the vehicle groups.Discussion: Ischemia for 15 minutes induced cell death in hippocampus with more potent effect on CA1. CoQ10 intake signi.cantly reduced cell death and prevented the expression of Bax while inducing an increase in expression of bcl2.

  7. Applications of the large mass expansion

    International Nuclear Information System (INIS)

    Fleischer, J.; Kotikov, A.V.; ); Veretin, O.L.

    1998-01-01

    The method of the large mass expansion (LME) is investigated for selfenergy and vertex functions in two-loop order. It has the technical advantage that in many cases the expansion coefficients can be expressed analytically. As long as only one non-zero external momentum squared, q 2 , is involved also the Taylor expansion (TE) w.r.t. small q 2 yields high precision results in a domain sufficient for most applications. In the case of only one non-zero mass M and only one external momentum squared, the expansion w.r.t. q 2 /M 2 is identical for the TE and the LME. In this case the combined techniques yield analytic expressions for many diagrams, which are quite easy to handle numerically. (author)

  8. Exogenous coenzyme Q10 modulates MMP-2 activity in MCF-7 cell line as a breast cancer cellular model

    Directory of Open Access Journals (Sweden)

    Mirmiranpour Hossein

    2010-11-01

    Full Text Available Abstract Background/Aims Matrix Metalloproteinases 2 is a key molecule in cellular invasion and metastasis. Mitochondrial ROS has been established as a mediator of MMP activity. Coenzyme Q10 contributes to intracellular ROS regulation. Coenzyme Q10 beneficial effects on cancer are still in controversy but there are indications of Coenzyme Q10 complementing effect on tamoxifen receiving breast cancer patients. Methods In this study we aimed to investigate the correlation of the effects of co-incubation of coenzyme Q10 and N-acetyl-L-cysteine (NAC on intracellular H2O2 content and Matrix Metalloproteinase 2 (MMP-2 activity in MCF-7 cell line. Results and Discussion Our experiment was designed to assess the effect in a time and dose related manner. Gelatin zymography and Flowcytometric measurement of H2O2 by 2'7',-dichlorofluorescin-diacetate probe were employed. The results showed that both coenzyme Q10 and N-acetyl-L-cysteine reduce MMP-2 activity along with the pro-oxidant capacity of the MCF-7 cell in a dose proportionate manner. Conclusions Collectively, the present study highlights the significance of Coenzyme Q10 effect on the cell invasion/metastasis effecter molecules.

  9. Translocation t(11;14 (q13;q32 and genomic imbalances in multi-ethnic multiple myeloma patients: a Malaysian study

    Directory of Open Access Journals (Sweden)

    Ivyna Bong Pau Ni

    2012-09-01

    Full Text Available More than 50% of myeloma cases have normal karyotypes under conventional cytogenetic analysis due to low mitotic activity and content of plasma cells in the bone marrow. We used a polymerase chain reaction (PCR-based translocation detection assay to detect BCL1/JH t(11;14 (q13;q32 in 105 myeloma patients, and randomly selected 8 translocation positive samples for array comparative genomic hybridization (aCGH analysis. Our findings revealed 14.3% of myeloma samples were positive for BCL1/JH t(11;14 (q13;q32 translocation (n=15 of 105. We found no significant correlation between this translocation with age (P=0.420, gender (P=0.317, ethnicity (P=0.066 or new/relapsed status of multiple myeloma (P=0.412 at 95% confidence interval level by x2 test. In addition, aCGH results showed genomic imbalances in all samples analyzed. Frequent chromosomal gains were identified at regions 1q, 2q, 3p, 3q, 4p, 4q, 5q, 7q, 9q, 11q, 13q, 15q, 21q, 22q and Xq, while chromosomal losses were detected at 4q and 14q. Copy number variations at genetic loci that contain NAMPT, IVNS1ABP and STK17B genes are new findings that have not previously been reported in myeloma patients. Besides fluorescence in situ hybridization, PCR is another rapid, sensitive and simple technique that can be used for detecting BCL1/JH t(11;14(q13;q32 translocation in multiple myeloma patients. Genes located in the chromosomal aberration regions in our study, such as NAMPT, IVNS1ABP, IRF2BP2, PICALM, STAT1, STK17B, FBXL5, ACSL1, LAMP2, SAMSN1 and ATP8B4 might be potential prognostic markers and therapeutic targets in the treatment and management of multiple myeloma patients positive for BCL1/JH t(11;14 (q13;q32 translocation.

  10. Large momentum transfer electron scattering from few-nucleon systems

    International Nuclear Information System (INIS)

    Arnold, R.G.

    1979-08-01

    A review is given of the experimental results from a series of measurements at SLAC of large momentum transfer (Q 2 > 20 fm -2 ) electron scattering at forward angles from nuclei with A less than or equal to 4. Theoretical interpretations of these data in terms of traditional nuclear physics models and in terms of quark constituent models are described. Some physics questions for future experiments are explored, and a preview of possible future measurements of magnetic structure functions of light nuclei at large Q 2 is given

  11. Negative subthreshold psychotic symptoms distinguish 22q11.2 deletion syndrome from other neurodevelopmental disorders: A two-site study.

    Science.gov (United States)

    Mekori-Domachevsky, Ehud; Guri, Yael; Yi, James; Weisman, Omri; Calkins, Monica E; Tang, Sunny X; Gross, Raz; McDonald-McGinn, Donna M; Emanuel, Beverly S; Zackai, Elaine H; Zalsman, Gil; Weizman, Abraham; Gur, Ruben C; Gur, Raquel E; Gothelf, Doron

    2017-10-01

    About one third of individuals with 22q11.2 deletion syndrome (22q11.2DS) develop schizophrenia. Notably, a full-blown psychotic disorder is usually preceded by subthreshold symptoms. Therefore, it is important to identify early signs of psychosis in this population, a task that is complicated by the intellectual disabilities typically seen in 22q11.2DS. We aimed to identify subthreshold psychotic symptoms that distinguish 22q11.2DS from other neurodevelopmental disorders. The study included two independent cohorts from Tel Aviv and Philadelphia. 22q11.2DS (N=171) and typically developing (TD; N=832) individuals were enrolled at both sites and further compared to two groups with intellectual disabilities: Williams syndrome (WS; N=21) in the Tel Aviv cohort and idiopathic developmental disabilities (IDD; N=129) in the Philadelphia cohort. Participants and their primary caregivers were interviewed with the Structured Interview for Prodromal Symptoms (SIPS) and psychopathologies were assessed using standardized tools; general cognitive abilities were assessed with the Computerized Neurocognitive Battery. Negative/disorganized subthreshold syndrome was significantly more common in the 22q11.2DS group than in the WS (OR=3.90, 95% CI=1.34-11.34) or IDD (OR=5.05, 95% CI=3.01-10.08) groups. The 22q11.2DS group had higher scores than the two intellectual disabilities groups on several SIPS negative items, including avolition and decreased expression of emotion. Overall, there were few significant correlations between level of cognitive deficits and severity of negative symptoms in 22q11.2DS and only in the Tel Aviv cohort. Our findings suggest that 22q11.2DS individuals at the age of risk for developing psychosis should be closely monitored for negative symptoms. Copyright © 2016 Elsevier B.V. All rights reserved.

  12. Heavy-Quark Symmetry Implies Stable Heavy Tetraquark Mesons Q_{i}Q_{j}q[over ¯]_{k}q[over ¯]_{l}.

    Science.gov (United States)

    Eichten, Estia J; Quigg, Chris

    2017-11-17

    For very heavy quarks Q, relations derived from heavy-quark symmetry predict the existence of novel narrow doubly heavy tetraquark states of the form Q_{i}Q_{j}q[over ¯]_{k}q[over ¯]_{l} (subscripts label flavors), where q designates a light quark. By evaluating finite-mass corrections, we predict that double-beauty states composed of bbu[over ¯]d[over ¯], bbu[over ¯]s[over ¯], and bbd[over ¯]s[over ¯] will be stable against strong decays, whereas the double-charm states ccq[over ¯]_{k}q[over ¯]_{l}, mixed beauty+charm states bcq[over ¯]_{k}q[over ¯]_{l}, and heavier bbq[over ¯]_{k}q[over ¯]_{l} states will dissociate into pairs of heavy-light mesons. Observation of a new double-beauty state through its weak decays would establish the existence of tetraquarks and illuminate the role of heavy color-antitriplet diquarks as hadron constituents.

  13. Mobile Robot Navigation Based on Q-Learning Technique

    Directory of Open Access Journals (Sweden)

    Lazhar Khriji

    2011-03-01

    Full Text Available This paper shows how Q-learning approach can be used in a successful way to deal with the problem of mobile robot navigation. In real situations where a large number of obstacles are involved, normal Q-learning approach would encounter two major problems due to excessively large state space. First, learning the Q-values in tabular form may be infeasible because of the excessive amount of memory needed to store the table. Second, rewards in the state space may be so sparse that with random exploration they will only be discovered extremely slowly. In this paper, we propose a navigation approach for mobile robot, in which the prior knowledge is used within Q-learning. We address the issue of individual behavior design using fuzzy logic. The strategy of behaviors based navigation reduces the complexity of the navigation problem by dividing them in small actions easier for design and implementation. The Q-Learning algorithm is applied to coordinate between these behaviors, which make a great reduction in learning convergence times. Simulation and experimental results confirm the convergence to the desired results in terms of saved time and computational resources.

  14. Measurement of αs(Q2) from the Gross endash Llewellyn Smith Sum Rule

    International Nuclear Information System (INIS)

    Johnson, R.A.; Vakili, M.; Kim, J.H.; Arroyo, C.G.; Bazarko, A.O.; Conrad, J.; King, B.J.; Lefmann, W.C.; McNulty, C.; Mishra, S.R.; Quintas, P.Z.; Romosan, A.; Schellman, H.; Sciulli, F.J.; Seligman, W.G.; Shaevitz, M.H.; Spentzouris, P.; Stern, E.G.; Bernstein, R.H.; Lamm, M.J.; Marsh, W.; McFarland, K.S.; Yu, J.; Bolton, T.; Naples, D.; Barbaro, L. de; Harris, D.A.; Barbaro, P. de; Bodek, A.; Budd, H.; Sakumoto, W.K.; Yang, U.K.; Kinnel, T.; Smith, W.H.

    1998-01-01

    We extract a set of values for the Gross endash Llewellyn Smith sum rule at different values of 4-momentum transfer squared (Q 2 ), by combining revised CCFR neutrino data with data from other neutrino deep-inelastic scattering experiments for 1 2 2 /c 2 . A comparison with the order α 3 s theoretical predictions yields a determination of α s at the scale of the Z -boson mass of 0.114± 0.009 0.012 . This measurement provides a new and useful test of perturbative QCD at low Q 2 , because of the low uncertainties in the higher order calculations. copyright 1998 The American Physical Society

  15. A measurement of the photon structure function F$_{2}^{\\gamma}$ at an average Q$^{2}$ of 12 GeV$^{2}$/c$^{4}$ : results from DELPHI

    CERN Document Server

    Abreu, P; Adye, T; Agasi, E; Ajinenko, I; Aleksan, Roy; Alekseev, G D; Allport, P P; Almehed, S; Alvsvaag, S J; Amaldi, Ugo; Amato, S; Andreazza, A; Andrieux, M L; Antilogus, P; Apel, W D; Arnoud, Y; Augustin, J E; Augustinus, A; Baillon, Paul; Bambade, P; Barão, F; Barate, R; Bardin, Dimitri Yuri; Barker, G J; Baroncelli, A; Bärring, O; Barrio, J A; Bartl, Walter; Bates, M J; Battaglia, Marco; Batyunya, B; Baubillier, M; Baudot, J; Becks, K H; Begalli, M; Beillière, P; Belokopytov, Yu A; Belous, K S; Benvenuti, Alberto C; Berggren, M; Bertrand, D; Bianchi, F; Bigi, M; Bilenky, S M; Billoir, P; Bloch, D; Blume, M; Blyth, S; Bocci, V; Bolognese, T; Bonesini, M; Bonivento, W; Booth, P S L; Borisov, G; Bosio, C; Bosworth, S; Botner, O; Bouquet, B; Bourdarios, C; Bowcock, T J V; Bozzo, M; Branchini, P; Brand, K D; Brenke, T; Brenner, R A; Bricman, C; Brillault, L; Brown, R C A; Brückman, P; Brunet, J M; Bugge, L; Buran, T; Burgsmüller, T; Buschmann, P; Buys, A; Caccia, M; Calvi, M; Camacho-Rozas, A J; Camporesi, T; Canale, V; Canepa, M; Cankocak, K; Cao, F; Carena, F; Carrilho, P; Carroll, L; Caso, Carlo; Castillo-Gimenez, M V; Cattai, A; Cavallo, F R; Cerrito, L; Chabaud, V; Charpentier, P; Chaussard, L; Chauveau, J; Checchia, P; Chelkov, G A; Chierici, R; Chliapnikov, P V; Chochula, P; Chorowicz, V; Cindro, V; Collins, P; Contreras, J L; Contri, R; Cortina, E; Cosme, G; Cossutti, F; Crawley, H B; Crennell, D J; Crosetti, G; Cuevas-Maestro, J; Czellar, S; Dahl-Jensen, Erik; Dahm, J; D'Almagne, B; Dam, M; Damgaard, G; Daum, A; Dauncey, P D; Davenport, Martyn; Da Silva, W; Defoix, C; Della Ricca, G; Delpierre, P A; Demaria, N; De Angelis, A; De Boeck, H; de Boer, Wim; De Brabandere, S; De Clercq, C; La Vaissière, C de; De Lotto, B; De Min, A; De Paula, L S; De Saint-Jean, C; Dijkstra, H; Di Ciaccio, Lucia; Djama, F; Dolbeau, J; Dönszelmann, M; Doroba, K; Dracos, M; Drees, J; Drees, K A; Dris, M; Dufour, Y; Dupont, F; Edsall, D M; Ehret, R; Eigen, G; Ekelöf, T J C; Ekspong, Gösta; Elsing, M; Engel, J P; Ershaidat, N; Erzen, B; Espirito-Santo, M C; Falk, E; Fassouliotis, D; Feindt, Michael; Fenyuk, A; Ferrer, A; Filippas-Tassos, A; Firestone, A; Föth, H; Fokitis, E; Fontanelli, F; Formenti, F; Franek, B J; Frenkiel, P; Fries, D E C; Frodesen, A G; Frühwirth, R; Fulda-Quenzer, F; Fürstenau, H; Fuster, J A; Galloni, A; Gamba, D; Gandelman, M; García, C; García, J; Gaspar, C; Gasparini, U; Gavillet, P; Gazis, E N; Gelé, D; Gerber, J P; Gibbs, M; Gillespie, D; Gokieli, R; Golob, B; Gopal, Gian P; Gorn, L; Górski, M; Guz, Yu; Gracco, Valerio; Graziani, E; Grosdidier, G; Gunnarsson, P; Günther, M; Guy, J; Haedinger, U; Hahn, F; Hahn, M; Hahn, S; Hajduk, Z; Hallgren, A; Hamacher, K; Hao, W; Harris, F J; Hedberg, V; Hernández, J J; Herquet, P; Herr, H; Hessing, T L; Higón, E; Hilke, Hans Jürgen; Hill, T S; Holmgren, S O; Holt, P J; Holthuizen, D J; Houlden, M A; Hrubec, Josef; Huet, K; Hultqvist, K; Ioannou, P; Jackson, J N; Jacobsson, R; Jalocha, P; Janik, R; Jarlskog, G; Jarry, P; Jean-Marie, B; Johansson, E K; Jönsson, L B; Jönsson, P E; Joram, Christian; Juillot, P; Kaiser, M; Kalmus, George Ernest; Kapusta, F; Karlsson, M; Karvelas, E; Katsanevas, S; Katsoufis, E C; Keränen, R; Khomenko, B A; Khovanskii, N N; King, B J; Kjaer, N J; Klein, H; Klovning, A; Kluit, P M; Köhne, J H; Köne, B; Kokkinias, P; Koratzinos, M; Korcyl, K; Kostyukhin, V; Kourkoumelis, C; Kuznetsov, O; Kramer, P H; Krammer, Manfred; Kreuter, C; Królikowski, J; Kronkvist, I J; Krumshtein, Z; Krupinski, W; Kubinec, P; Kucewicz, W; Kurvinen, K L; Lacasta, C; Laktineh, I; Lamblot, S; Lamsa, J; Lanceri, L; Lane, D W; Langefeld, P; Lapin, V; Last, I; Laugier, J P; Lauhakangas, R; Leder, Gerhard; Ledroit, F; Lefébure, V; Legan, C K; Leitner, R; Lemoigne, Y; Lemonne, J; Lenzen, G; Lepeltier, V; Lesiak, T; Liko, D; Lindner, R; Lipniacka, A; Lippi, I; Lörstad, B; Lokajícek, M; Loken, J G; López, J M; López-Fernandez, A; López-Aguera, M A; Loukas, D; Lutz, P; Lyons, L; MacNaughton, J N; Maehlum, G; Maio, A; Malychev, V; Mandl, F; Marco, J; Maréchal, B; Margoni, M; Marin, J C; Mariotti, C; Markou, A; Maron, T; Martínez-Rivero, C; Martínez-Vidal, F; Martí i García, S; Matorras, F; Matteuzzi, C; Matthiae, Giorgio; Mazzucato, M; McCubbin, M L; McKay, R; McNulty, R; Medbo, J; Meroni, C; Meyer, W T; Myagkov, A; Michelotto, M; Migliore, E; Mirabito, L; Mjörnmark, U; Moa, T; Møller, R; Mönig, K; Monge, M R; Morettini, P; Müller, H; Mundim, L M; Murray, W J; Muryn, B; Myatt, Gerald; Naraghi, F; Navarria, Francesco Luigi; Navas, S; Negri, P; Némécek, S; Neumann, W; Neumeister, N; Nicolaidou, R; Nielsen, B S; Nieuwenhuizen, M; Nikolaenko, V; Niss, P; Nomerotski, A; Normand, Ainsley; Oberschulte-Beckmann, W; Obraztsov, V F; Olshevskii, A G; Onofre, A; Orava, Risto; Österberg, K; Ouraou, A; Paganini, P; Paganoni, M; Pagès, P; Palka, H; Papadopoulou, T D; Pape, L; Parkes, C; Parodi, F; Passeri, A; Pegoraro, M; Peralta, L; Pernegger, H; Pernicka, Manfred; Perrotta, A; Petridou, C; Petrolini, A; Phillips, H T; Piana, G; Pierre, F; Pimenta, M; Plaszczynski, S; Podobrin, O; Pol, M E; Polok, G; Poropat, P; Pozdnyakov, V; Prest, M; Privitera, P; Pukhaeva, N; Pullia, Antonio; Radojicic, D; Ragazzi, S; Rahmani, H; Rames, J; Ratoff, P N; Read, A L; Reale, M; Rebecchi, P; Redaelli, N G; Regler, Meinhard; Reid, D; Renton, P B; Resvanis, L K; Richard, F; Richardson, J; Rídky, J; Rinaudo, G; Ripp, I; Romero, A; Roncagliolo, I; Ronchese, P; Roos, L; Rosenberg, E I; Rosso, E; Roudeau, Patrick; Rovelli, T; Rückstuhl, W; Ruhlmann-Kleider, V; Ruiz, A; Rybicki, K; Saarikko, H; Sacquin, Yu; Sadovskii, A; Sajot, G; Salt, J; Sánchez, J; Sannino, M; Schneider, H; Schyns, M A E; Sciolla, G; Scuri, F; Sedykh, Yu; Segar, A M; Seitz, A; Sekulin, R L; Shellard, R C; Siccama, I; Siegrist, P; Simonetti, S; Simonetto, F; Sissakian, A N; Sitár, B; Skaali, T B; Smadja, G; Smirnov, N; Smirnova, O G; Smith, G R; Sosnowski, R; Souza-Santos, D; Spassoff, Tz; Spiriti, E; Sponholz, P; Squarcia, S; Stanescu, C; Stapnes, Steinar; Stavitski, I; Stepaniak, K; Stichelbaut, F; Stocchi, A; Strauss, J; Strub, R; Stugu, B; Szczekowski, M; Szeptycka, M; Tabarelli de Fatis, T; Tavernet, J P; Chikilev, O G; Tilquin, A; Timmermans, J; Tkatchev, L G; Todorov, T; Toet, D Z; Tomaradze, A G; Tomé, B; Tortora, L; Tranströmer, G; Treille, D; Trischuk, W; Tristram, G; Trombini, A; Troncon, C; Tsirou, A L; Turluer, M L; Tyapkin, I A; Tyndel, M; Tzamarias, S; Überschär, B; Ullaland, O; Uvarov, V; Valenti, G; Vallazza, E; Van der Velde, C; van Apeldoorn, G W; van Dam, P; Van Doninck, W K; Van Eldik, J; Vassilopoulos, N; Vegni, G; Ventura, L; Venus, W A; Verbeure, F; Verlato, M; Vertogradov, L S; Vilanova, D; Vincent, P; Vitale, L; Vlasov, E; Vodopyanov, A S; Vrba, V; Wahlen, H; Walck, C; Waldner, F; Weierstall, M; Weilhammer, Peter; Wetherell, Alan M; Wicke, D; Wickens, J H; Wielers, M; Wilkinson, G R; Williams, W S C; Winter, M; Witek, M; Woschnagg, K; Yip, K; Yushchenko, O P; Zach, F; Zacharatou-Jarlskog, C; Zalewska-Bak, A; Zalewski, Piotr; Zavrtanik, D; Zevgolatakos, E; Zimin, N I; Zito, M; Zontar, D; Zuberi, R; Zucchelli, G C; Zumerle, G

    1996-01-01

    The hadronic photon structure function F_{2}^{\\gamma} has been measured in the Q^{2} range from 4 to 30~GeV^2/c^{4} and down to x values of order 0.001, using data taken with the DELPHI detector at LEP between 1991 and 1993. A comparison is made with several F_{2}^{\\gamma} parameterizations with special emphasis on their low x behaviour. A result on the Q^{2} evolution of F_{2}^{\\gamma} is presented.

  16. A Java program for LRE-based real-time qPCR that enables large-scale absolute quantification.

    Directory of Open Access Journals (Sweden)

    Robert G Rutledge

    Full Text Available BACKGROUND: Linear regression of efficiency (LRE introduced a new paradigm for real-time qPCR that enables large-scale absolute quantification by eliminating the need for standard curves. Developed through the application of sigmoidal mathematics to SYBR Green I-based assays, target quantity is derived directly from fluorescence readings within the central region of an amplification profile. However, a major challenge of implementing LRE quantification is the labor intensive nature of the analysis. FINDINGS: Utilizing the extensive resources that are available for developing Java-based software, the LRE Analyzer was written using the NetBeans IDE, and is built on top of the modular architecture and windowing system provided by the NetBeans Platform. This fully featured desktop application determines the number of target molecules within a sample with little or no intervention by the user, in addition to providing extensive database capabilities. MS Excel is used to import data, allowing LRE quantification to be conducted with any real-time PCR instrument that provides access to the raw fluorescence readings. An extensive help set also provides an in-depth introduction to LRE, in addition to guidelines on how to implement LRE quantification. CONCLUSIONS: The LRE Analyzer provides the automated analysis and data storage capabilities required by large-scale qPCR projects wanting to exploit the many advantages of absolute quantification. Foremost is the universal perspective afforded by absolute quantification, which among other attributes, provides the ability to directly compare quantitative data produced by different assays and/or instruments. Furthermore, absolute quantification has important implications for gene expression profiling in that it provides the foundation for comparing transcript quantities produced by any gene with any other gene, within and between samples.

  17. Brain and behaviour in children with 22q11.2 deletion syndrome: a volumetric and voxel-based morphometry MRI study

    NARCIS (Netherlands)

    Campbell, Linda E.; Daly, Eileen; Toal, Fiona; Stevens, Angela; Azuma, Rayna; Catani, Marco; Ng, Virginia; van Amelsvoort, Therese; Chitnis, Xavier; Cutter, William; Murphy, Declan G. M.; Murphy, Kieran C.

    2006-01-01

    In people with velo-cardio-facial syndrome [or 22q11.2 deletion syndrome (22qDS)], a single interstitial deletion of chromosome 22q11.2 causes a wide spectrum of cognitive deficits ranging from global learning difficulties to specific cognitive deficits. People with 22qDS are also at high risk of

  18. Developmental course of conversational behaviour of children with 22q11.2 deletion syndrome and Williams syndrome

    OpenAIRE

    Van Den Heuvel, E.; Botting, N.; Boudewijns, I.; Manders, E.; Swillen, A.; Zink, I.

    2017-01-01

    This study investigated three conversational subskills in children with 22q11.2 deletion syndrome (22q11.2DS, n = 8, ages 7–13) and Williams syndrome (WS, n = 8, ages 6–12). We re-evaluated these subskills after 18 to 24 months and compared them to those of peers with idiopathic intellectual disability (IID) and IID and comorbid autism spectrum disorders (IID+ASD). Children with 22q11.2DS became less actively involved over time. Lower assertiveness than in children with IID was demonstrated. ...

  19. Two-photon collisions at very low Q2 from LEP2. Forthcoming results

    International Nuclear Information System (INIS)

    Almehed, S.; Jarlskog, G.; Mjornmark, U.; Nygren, A.; Zimin, N.; Kapusta, F.; Tyapkin, I.

    1998-01-01

    Experimental results that may soon be obtained in two-photon collisions at very low momentum transfer Q 2 at LEP2 are reviewed. A kinematical range is presented for both the forward and very forward detectors used to measure scattered electrons and positrons. A new acceptance, after this year's upgrade of the beam pipe at the position of the very forward detectors, is evaluated. The corresponding statistics is calculated for an integrated luminosity of 400 pb -1 , that must be collected by the end of LEP2 operation according to current plans

  20. On the Q2-dependence of quark and diquark fragmentation functions

    International Nuclear Information System (INIS)

    Bartl, A.

    1988-01-01

    The Q 2 -dependence of quark and diquark fragmentation functions is studied by means of evolution equations and compared with the experimental data. Some comments on the evolution of charm quark fragmentation are also presented. 20 refs., 4 figs. (Author)

  1. Does Differential Visual Exploration Contribute to Visual Memory Impairments in 22Q11.2 Microdeletion Syndrome?

    Science.gov (United States)

    Bostelmann, M.; Glaser, B.; Zaharia, A.; Eliez, S.; Schneider, M.

    2017-01-01

    Background: Chromosome 22q11.2 microdeletion syndrome (22q11.2DS) is a genetic syndrome characterised by a unique cognitive profile. Individuals with the syndrome present several non-verbal deficits, including visual memory impairments and atypical exploration of visual information. In this study, we seek to understand how visual attention may…

  2. Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts

    Directory of Open Access Journals (Sweden)

    D. Wong

    2013-01-01

    Full Text Available The proximal q arm of chromosome 15 contains breakpoint regions BP1–BP5 with the classic deletion of BP1–BP3 best known to be associated with Prader-Willi and Angelman syndromes. The region is approximately 500 kb and microdeletions within the BP1-BP2 region have been reported in patients with developmental delay, behavioral abnormalities, and motor apraxia as well as dysmorphic features including hypertelorism, cleft or narrow palate, ear abnormalities, and recurrent upper airway infections. We report two patients with unique, never-before-reported 15q11.2 BP1-2 microdeletion syndrome findings, one with proximal esophageal atresia and distal tracheoesophageal fistula (type C and one with congenital cataracts. Cataracts have been described in Prader-Willi syndrome but we could not find any description of cataracts in Angelman syndrome. Esophageal atresia and tracheoesophageal fistula have not been reported to our knowledge in either syndrome. A chance exists that both cases are sporadic birth defects; however, the findings of the concomitant microdeletion cannot be overlooked as a possible cause. Based on our review of the literature and the presentation of our patients, we recommend that esophageal atresia and distal tracheoesophageal fistula as well as congenital cataracts be included in the phenotypic spectrum of 15q11.2 BP1-2 microdeletion syndrome.

  3. Measurement of the proton structure function FL(x,Q2) at low x

    International Nuclear Information System (INIS)

    Aaron, F.D.; Andreev, V.

    2008-05-01

    A first measurement is reported of the longitudinal proton structure function F L (x,Q 2 ) at the ep collider HERA. It is based on inclusive deep inelastic e + p scattering cross section measurements with a positron beam energy of 27.5 GeV and proton beam energies of 920, 575 and 460 GeV. Employing the energy dependence of the cross section, F L is measured in a range of squared four-momentum transfers 12≤Q 2 ≤90 GeV 2 and low Bjorken x 0.00024≤x≤0.0036. The FL values agree with higher order QCD calculations based on parton densities obtained using cross section data previously measured at HERA. (orig.)

  4. Measurement of the proton structure function FL (x ,Q2) at low x

    Science.gov (United States)

    Aaron, F. D.; Alexa, C.; Andreev, V.; Antunovic, B.; Aplin, S.; Asmone, A.; Astvatsatourov, A.; Bacchetta, A.; Backovic, S.; Baghdasaryan, A.; Baranov, P.; Barrelet, E.; Bartel, W.; Beckingham, M.; Begzsuren, K.; Behnke, O.; Belousov, A.; Berger, N.; Bizot, J. C.; Boenig, M.-O.; Boudry, V.; Bozovic-Jelisavcic, I.; Bracinik, J.; Brandt, G.; Brinkmann, M.; Brisson, V.; Bruncko, D.; Bunyatyan, A.; Buschhorn, G.; Bystritskaya, L.; Campbell, A. J.; Cantun Avila, K. B.; Cassol-Brunner, F.; Cerny, K.; Cerny, V.; Chekelian, V.; Cholewa, A.; Contreras, J. G.; Coughlan, J. A.; Cozzika, G.; Cvach, J.; Dainton, J. B.; Daum, K.; Deák, M.; de Boer, Y.; Delcourt, B.; Del Degan, M.; Delvax, J.; De Roeck, A.; De Wolf, E. A.; Diaconu, C.; Dodonov, V.; Dossanov, A.; Dubak, A.; Eckerlin, G.; Efremenko, V.; Egli, S.; Eliseev, A.; Elsen, E.; Essenov, S.; Falkiewicz, A.; Faulkner, P. J. W.; Favart, L.; Fedotov, A.; Felst, R.; Feltesse, J.; Ferencei, J.; Finke, L.; Fleischer, M.; Fomenko, A.; Gabathuler, E.; Gayler, J.; Ghazaryan, S.; Glazov, A.; Glushkov, I.; Goerlich, L.; Goettlich, M.; Gogitidze, N.; Gouzevitch, M.; Grab, C.; Greenshaw, T.; Grell, B. R.; Grindhammer, G.; Habib, S.; Haidt, D.; Hansson, M.; Helebrant, C.; Henderson, R. C. W.; Henschel, H.; Herrera, G.; Hildebrandt, M.; Hiller, K. H.; Hoffmann, D.; Horisberger, R.; Hovhannisyan, A.; Hreus, T.; Jacquet, M.; Janssen, M. E.; Janssen, X.; Jemanov, V.; Jönsson, L.; Johnson, D. P.; Jung, A. W.; Jung, H.; Kapichine, M.; Katzy, J.; Kenyon, I. R.; Kiesling, C.; Klein, M.; Kleinwort, C.; Klimkovich, T.; Kluge, T.; Knutsson, A.; Kogler, R.; Korbel, V.; Kostka, P.; Kraemer, M.; Krastev, K.; Kretzschmar, J.; Kropivnitskaya, A.; Krüger, K.; Kutak, K.; Landon, M. P. J.; Lange, W.; Laštovička-Medin, G.; Laycock, P.; Lebedev, A.; Leibenguth, G.; Lendermann, V.; Levonian, S.; Li, G.; Lipka, K.; Liptaj, A.; List, B.; List, J.; Loktionova, N.; Lopez-Fernandez, R.; Lubimov, V.; Lucaci-Timoce, A.-I.; Lytkin, L.; Makankine, A.; Malinovski, E.; Marage, P.; Marti, Ll.; Martyn, H.-U.; Maxfield, S. J.; Mehta, A.; Meier, K.; Meyer, A. B.; Meyer, H.; Meyer, H.; Meyer, J.; Michels, V.; Mikocki, S.; Milcewicz-Mika, I.; Moreau, F.; Morozov, A.; Morris, J. V.; Mozer, M. U.; Mudrinic, M.; Müller, K.; Murín, P.; Nankov, K.; Naroska, B.; Naumann, Th.; Newman, P. R.; Niebuhr, C.; Nikiforov, A.; Nowak, G.; Nowak, K.; Nozicka, M.; Olivier, B.; Olsson, J. E.; Osman, S.; Ozerov, D.; Palichik, V.; Panagoulias, I.; Pandurovic, M.; Papadopoulou, Th.; Pascaud, C.; Patel, G. D.; Pejchal, O.; Peng, H.; Perez, E.; Petrukhin, A.; Picuric, I.; Piec, S.; Pitzl, D.; Plačakytė, R.; Polifka, R.; Povh, B.; Preda, T.; Radescu, V.; Rahmat, A. J.; Raicevic, N.; Raspiareza, A.; Ravdandorj, T.; Reimer, P.; Rizvi, E.; Robmann, P.; Roland, B.; Roosen, R.; Rostovtsev, A.; Rotaru, M.; Ruiz Tabasco, J. E.; Rurikova, Z.; Rusakov, S.; Salek, D.; Salvaire, F.; Sankey, D. P. C.; Sauter, M.; Sauvan, E.; Schmidt, S.; Schmitt, S.; Schmitz, C.; Schoeffel, L.; Schöning, A.; Schultz-Coulon, H.-C.; Sefkow, F.; Shaw-West, R. N.; Sheviakov, I.; Shtarkov, L. N.; Shushkevich, S.; Sloan, T.; Smiljanic, I.; Smirnov, P.; Soloviev, Y.; Sopicki, P.; South, D.; Spaskov, V.; Specka, A.; Staykova, Z.; Steder, M.; Stella, B.; Straumann, U.; Sunar, D.; Sykora, T.; Tchoulakov, V.; Thompson, G.; Thompson, P. D.; Toll, T.; Tomasz, F.; Tran, T. H.; Traynor, D.; Trinh, T. N.; Truöl, P.; Tsakov, I.; Tseepeldorj, B.; Tsurin, I.; Turnau, J.; Tzamariudaki, E.; Urban, K.; Valkárová, A.; Vallée, C.; Van Mechelen, P.; Vargas Trevino, A.; Vazdik, Y.; Vinokurova, S.; Volchinski, V.; Wegener, D.; Wessels, M.; Wissing, Ch.; Wünsch, E.; Yeganov, V.; Žáček, J.; Zálešák, J.; Zhang, Z.; Zhelezov, A.; Zhokin, A.; Zhu, Y. C.; Zimmermann, T.; Zohrabyan, H.; Zomer, F.; H1 Collaboration

    2008-07-01

    A first measurement is reported of the longitudinal proton structure function FL (x ,Q2) at the ep collider HERA. It is based on inclusive deep inelastic e+ p scattering cross section measurements with a positron beam energy of 27.5 GeV and proton beam energies of 920, 575 and 460 GeV. Employing the energy dependence of the cross section, FL is measured in a range of squared four-momentum transfers 12 ⩽Q2 ⩽ 90 GeV2 and low Bjorken x 0.00024 ⩽ x ⩽ 0.0036. The FL values agree with higher order QCD calculations based on parton densities obtained using cross section data previously measured at HERA.

  5. Measurements of the neutron electric to magnetic form factor ratio GEn/GMn via the 2H(e→,e'n→)1H reaction to Q2=1.45 (GeV/c)2

    International Nuclear Information System (INIS)

    Plaster, B.; Semenov, A.Yu.; Semenova, I.A.; Aghalaryan, A.; Asaturyan, R.; Mkrtchyan, H.; Stepanyan, S.; Tadevosyan, V.; Crouse, E.; Finn, J.M.; Perdrisat, C.; Roche, J.; MacLachlan, G.; Opper, A.K.; Tajima, S.; Churchwell, S.; Howell, C.R.; Tireman, W.; Ahmidouch, A.; Anderson, B. D.

    2006-01-01

    We report values for the neutron electric to magnetic form factor ratio, G En /G Mn , deduced from measurements of the neutron's recoil polarization in the quasielastic 2 H(e→,e ' n→) 1 H reaction, at three Q 2 values of 0.45, 1.13, and 1.45 (GeV/c) 2 . The data at Q 2 =1.13 and 1.45 (GeV/c) 2 are the first direct experimental measurements of G En employing polarization degrees of freedom in the Q 2 >1 (GeV/c) 2 region and stand as the most precise determinations of G En for all values of Q 2

  6. q-Virasoro algebra, q-conformal dimensions and free q-superstring

    International Nuclear Information System (INIS)

    Chaichian, M.

    1996-01-01

    The commutators of standard Virasoro generators and fields generate various representations of the centreless Virasoro algebra depending on a conformal dimension J of the field in question (J is related to the Bargmann index of SU(1,1) generated by L m , m=0,±1). We introduce the notion of q-conformal dimension for various oscillator realizations of q-deformed Virasoro (super)algebras proposed earlier. We use the field theoretical approach introduced recently in which the q-Virasoro currents L α (z) are expressed as Schwinger-like point-split normally ordered quadratic expressions in elementary fields. We extend this approach and probe the elementary fields A(z) (the q-superstring coordinate, momentum and fermionic field) and their powers by the q-Virasoro generators L α m (i.e. we calculate the commutators [L α m ,A(z)]) and show that to all of them can be assigned just the standard non-deformed conformal dimension. (orig.)

  7. Measurement of Exclusive $\\rho^+ \\rho^-$ Production in High-$Q^2$ Two-Photon Collisions at LEP

    CERN Document Server

    Achard, P.; Aguilar-Benitez, M.; Alcaraz, J.; Alemanni, G.; Allaby, J.; Aloisio, A.; Alviggi, M.G.; Anderhub, H.; Andreev, Valery P.; Anselmo, F.; Arefev, A.; Azemoon, T.; Aziz, T.; Bagnaia, P.; Bajo, A.; Baksay, G.; Baksay, L.; Baldew, S.V.; Banerjee, S.; Banerjee, Sw.; Barczyk, A.; Barillere, R.; Bartalini, P.; Basile, M.; Batalova, N.; Battiston, R.; Bay, A.; Becattini, F.; Becker, U.; Behner, F.; Bellucci, L.; Berbeco, R.; Berdugo, J.; Berges, P.; Bertucci, B.; Betev, B.L.; Biasini, M.; Biglietti, M.; Biland, A.; Blaising, J.J.; Blyth, S.C.; Bobbink, G.J.; Bohm, A.; Boldizsar, L.; Borgia, B.; Bottai, S.; Bourilkov, D.; Bourquin, M.; Braccini, S.; Branson, J.G.; Brochu, F.; Burger, J.D.; Burger, W.J.; Cai, X.D.; Capell, M.; Cara Romeo, G.; Carlino, G.; Cartacci, A.; Casaus, J.; Cavallari, F.; Cavallo, N.; Cecchi, C.; Cerrada, M.; Chamizo, M.; Chang, Y.H.; Chemarin, M.; Chen, A.; Chen, G.; Chen, G.M.; Chen, H.F.; Chen, H.S.; Chiefari, G.; Cifarelli, L.; Cindolo, F.; Clare, I.; Clare, R.; Coignet, G.; Colino, N.; Costantini, S.; de la Cruz, B.; Cucciarelli, S.; van Dalen, J.A.; de Asmundis, R.; Deglon, P.; Debreczeni, J.; Degre, A.; Dehmelt, K.; Deiters, K.; della Volpe, D.; Delmeire, E.; Denes, P.; DeNotaristefani, F.; De Salvo, A.; Diemoz, M.; Dierckxsens, M.; Dionisi, C.; Dittmar, M.; Doria, A.; Dova, M.T.; Duchesneau, D.; Duda, M.; Echenard, B.; Eline, A.; El Hage, A.; El Mamouni, H.; Engler, A.; Eppling, F.J.; Extermann, P.; Falagan, M.A.; Falciano, S.; Favara, A.; Fay, J.; Fedin, O.; Felcini, M.; Ferguson, T.; Fesefeldt, H.; Fiandrini, E.; Field, J.H.; Filthaut, F.; Fisher, P.H.; Fisher, W.; Fisk, I.; Forconi, G.; Freudenreich, K.; Furetta, C.; Galaktionov, Iouri; Ganguli, S.N.; Garcia-Abia, Pablo; Gataullin, M.; Gentile, S.; Giagu, S.; Gong, Z.F.; Grenier, Gerald Jean; Grimm, O.; Gruenewald, M.W.; Guida, M.; Gupta, V.K.; Gurtu, A.; Gutay, L.J.; Haas, D.; Hatzifotiadou, D.; Hebbeker, T.; Herve, Alain; Hirschfelder, J.; Hofer, H.; Hohlmann, M.; Holzner, G.; Hou, S.R.; Hu, Y.; Jin, B.N.; Jones, Lawrence W.; de Jong, P.; Josa-Mutuberria, I.; Kaur, M.; Kienzle-Focacci, M.N.; Kim, J.K.; Kirkby, Jasper; Kittel, W.; Klimentov, A.; Konig, A.C.; Kopal, M.; Koutsenko, V.; Kraber, M.; Kraemer, R.W.; Kruger, A.; Kunin, A.; Ladron de Guevara, P.; Laktineh, I.; Landi, G.; Lebeau, M.; Lebedev, A.; Lebrun, P.; Lecomte, P.; Lecoq, P.; Le Coultre, P.; Le Goff, J.M.; Leiste, R.; Levtchenko, M.; Levtchenko, P.; Li, C.; Likhoded, S.; Lin, C.H.; Lin, W.T.; Linde, F.L.; Lista, L.; Liu, Z.A.; Lohmann, W.; Longo, E.; Lu, Y.S.; Luci, C.; Luminari, L.; Lustermann, W.; Ma, W.G.; Malgeri, L.; Malinin, A.; Mana, C.; Mans, J.; Martin, J.P.; Marzano, F.; Mazumdar, K.; McNeil, R.R.; Mele, S.; Merola, L.; Meschini, M.; Metzger, W.J.; Mihul, A.; Milcent, H.; Mirabelli, G.; Mnich, J.; Mohanty, G.B.; Muanza, G.S.; Muijs, A.J.M.; Musicar, B.; Musy, M.; Nagy, S.; Natale, S.; Napolitano, M.; Nessi-Tedaldi, F.; Newman, H.; Nisati, A.; Novak, T.; Kluge, Hannelies; Ofierzynski, R.; Organtini, G.; Pal, I.; Palomares, C.; Paolucci, P.; Paramatti, R.; Passaleva, G.; Patricelli, S.; Paul, Thomas Cantzon; Pauluzzi, M.; Paus, C.; Pauss, F.; Pedace, M.; Pensotti, S.; Perret-Gallix, D.; Petersen, B.; Piccolo, D.; Pierella, F.; Pioppi, M.; Piroue, P.A.; Pistolesi, E.; Plyaskin, V.; Pohl, M.; Pojidaev, V.; Pothier, J.; Prokofev, D.; Quartieri, J.; Rahal-Callot, G.; Rahaman, Mohammad Azizur; Raics, P.; Raja, N.; Ramelli, R.; Rancoita, P.G.; Ranieri, R.; Raspereza, A.; Razis, P.; Ren, D.; Rescigno, M.; Reucroft, S.; Riemann, S.; Riles, Keith; Roe, B.P.; Romero, L.; Rosca, A.; Rosemann, C.; Rosenbleck, C.; Rosier-Lees, S.; Roth, Stefan; Rubio, J.A.; Ruggiero, G.; Rykaczewski, H.; Sakharov, A.; Saremi, S.; Sarkar, S.; Salicio, J.; Sanchez, E.; Schafer, C.; Schegelsky, V.; Schopper, H.; Schotanus, D.J.; Sciacca, C.; Servoli, L.; Shevchenko, S.; Shivarov, N.; Shoutko, V.; Shumilov, E.; Shvorob, A.; Son, D.; Souga, C.; Spillantini, P.; Steuer, M.; Stickland, D.P.; Stoyanov, B.; Straessner, A.; Sudhakar, K.; Sultanov, G.; Sun, L.Z.; Sushkov, S.; Suter, H.; Swain, J.D.; Szillasi, Z.; Tang, X.W.; Tarjan, P.; Tauscher, L.; Taylor, L.; Tellili, B.; Teyssier, D.; Timmermans, Charles; Ting, Samuel C.C.; Ting, S.M.; Tonwar, S.C.; Toth, J.; Tully, C.; Tung, K.L.; Ulbricht, J.; Valente, E.; Van de Walle, R.T.; Vasquez, R.; Veszpremi, V.; Vesztergombi, G.; Vetlitsky, I.; Vicinanza, D.; Viertel, G.; Villa, S.; Vivargent, M.; Vlachos, S.; Vodopianov, I.; Vogel, H.; Vogt, H.; Vorobev, I.; Vorobyov, A.A.; Wadhwa, M.; Wang, Q.; Wang, X.L.; Wang, Z.M.; Weber, M.; Wilkens, H.; Wynhoff, S.; Xia, L.; Xu, Z.Z.; Yamamoto, J.; Yang, B.Z.; Yang, C.G.; Yang, H.J.; Yang, M.; Yeh, S.C.; Zalite, An.; Zalite, Yu.; Zhang, Z.P.; Zhao, J.; Zhu, G.Y.; Zhu, R.Y.; Zhuang, H.L.; Zichichi, A.; Zimmermann, B.; Zoller, M.

    2004-01-01

    Exclusive rho^+ rho^- production in two-photon collisions involving a single highly-virtual photon is studied with data collected at LEP at centre-of-mass energies 89 GeV rho^+ rho^- is determined as a function of the photon virtuality, Q^2, and the two-photon centre-of-mass energy, W_gg, in the kinematic region: 1.2 GeV^2 rho^0 rho^0, measured in the same kinematic region by L3, and to have similar W_gg and Q^2 dependences.

  8. SU(2,R)q symmetries of non-Abelian Toda theories

    International Nuclear Information System (INIS)

    Gomes, J.F.; Zimerman, A.H.; Sotkov, G.M.

    1998-03-01

    The classical and quantum algebras of a class of conformal NA-Toda models are studied. It is shown that the SL (2,R) q . Poisson brackets algebra generated by certain chiral and antichiral charges of the nonlocal currents and the global U(1) charge appears as an algebra of the symmetries of these models. (author)

  9. The O(αs3) massive operator matrix elements of O(nf) for the structure function F2(x,Q2) and transversity

    International Nuclear Information System (INIS)

    Ablinger, J.; Bluemlein, J.; Klein, S.; Schneider, C.; Wissbrock, F.

    2011-01-01

    The contributions ∝n f to the O(α s 3 ) massive operator matrix elements describing the heavy flavor Wilson coefficients in the limit Q 2 >>m 2 are computed for the structure function F 2 (x,Q 2 ) and transversity for general values of the Mellin variable N. Here, for two matrix elements, A qq,Q PS (N) and A qg,Q (N), the complete result is obtained. A first independent computation of the contributions to the 3-loop anomalous dimensions γ qg (N), γ qq PS (N), and γ qq NS,(TR) (N) is given. In the computation advanced summation technologies for nested sums over products of hypergeometric terms with harmonic sums have been used. For intermediary results generalized harmonic sums occur, while the final results can be expressed by nested harmonic sums only.

  10. Formation of q bar q resonances in the bar NN system

    International Nuclear Information System (INIS)

    Ivanov, N.Ya.

    1995-01-01

    The formation of q bar q resonances lying on the leading Regge trajectories in the bar NN system is studied in the quark-gluon string model. The model predicts strong suppression of the decays of q bar q states into bar NN pairs in relation to two-meson modes. The author's analysis shows that the contributions of the resonances f 4 (2050) (I G J PC = 0 + 4 ++ ), ρ 5 (2240) (I G J PC = 1 + 5 -- ), and f 6 (2510) (I G J PC = 0 + 6 ++ ) to the processes of two-meson bar NN annihilation (bar pp → ππ, bar KK, hor-ellipsis) are about 1% of the corresponding experimental integrated cross sections. 30 refs., 2 figs., 1 tab

  11. Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14.

    Science.gov (United States)

    Zech, J C; Morlé, L; Vincent, P; Alloisio, N; Bozon, M; Gonnet, C; Milazzo, S; Grange, J D; Trepsat, C; Godet, J; Plauchu, H

    1999-05-01

    It has been previously described that Wagner disease is linked to chromosome 5q13-q14. This study was carried out to describe the ophthalmological aspects and report the results of genetic linkage analysis in a large pedigree affected by Wagner disease. Fourty members of one same family agreed to be examined. Twenty patients presented vitreoretinal degeneration in both eyes without any extra-ocular abnormalities. In young patients, visual acuity was usually normal after correction of frequent mild myopia. Presenile cataracts progressed by the third decade and required removal for visual rehabilitation. The primary disorder involved an abnormal vitreous. A few avascular vitreous bands were usually the only optical feature in the mostly empty vitreous cavity. A circumferential vitreous condensation formed in contact with the retina on many spots. Less common retinal findings included retinal detachment, abnormal retinal pigmentation, progressive atrophy of the RPE simulating choroideremia and lattice degeneration. Genetic analysis revealed a highly significant linkage (lod score >5.0) between the disease and 10 markers of the chromosome 5q13-q14 region. Two recombination events allowed us to refine the linked interval to 20 cM between the D5S650 and D5S618 markers. Ophthalmological aspects of Wagner's disease appear to progress with age. Regular ophthalmological examination is important for detecting retinal abnormalities. The gene involved in Wagner's disease lies in a 20 cM interval on chromosome 5q13-q14.

  12. Absence epilepsy and the CHD2 gene: an adolescent male with moderate intellectual disability, short-lasting psychoses, and an interstitial deletion in 15q26.1–q26.2

    Directory of Open Access Journals (Sweden)

    Verhoeven WMA

    2016-05-01

    Full Text Available Willem MA Verhoeven,1,2 Jos IM Egger,1,3,4 Alida C Knegt,5 José Zuydam,6 Tjitske Kleefstra7 1Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, 2Department of Psychiatry, Erasmus University Medical Center, Rotterdam, 3Donders Institute for Brain, Cognition and Behaviour, 4Behavioural Science Institute, Radboud University, Nijmegen, 5Department of Clinical Genetics, University of Amsterdam Medical Center, Amsterdam, 6Reigersdaal Institute for Intellectual Disabilities, Heerhugowaard, 7Department of Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands Abstract: Deletions of the 15q26 region encompassing the chromodomain helicase DNA binding domain 2 (CHD2 gene have been associated with intellectual disability, behavioral problems, and several types of epilepsy. Including the cases mentioned in ECARUCA (European cytogeneticists association register of unbalanced chromosome aberrations and DECIPHER (database of genomic variation and phenotype in humans using ensembl resources, so far, a total of 13 intellectually disabled patients with a genetically proven deletion of the CHD2 gene are described, of whom eleven had a history of severe forms of epilepsy starting from a young age. In this article, a moderately intellectually disabled 15-year-old male with a 15q26.1–q26.2 interstitial deletion is reported, who was referred for analysis of two recent short-lasting psychotic episodes that were nonresponsive to antipsychotic treatment and recurrent disinhibited behaviors since early infancy. Careful interdisciplinary assessment revealed that the psychotic phenomena originated from a previously unrecognized absence epilepsy. Treatment with valproic acid was started which resulted in full remission of psychotic symptoms, and consequently, substantial improvement of behavior. It was concluded that in case of (rare developmental disorders with genetically proven etiology, a detailed inventory of

  13. Measurement of high-Q{sup 2} neutral current deep inelastic e{sup -}p scattering cross sections with a longitudinally polarised electron beam at HERA

    Energy Technology Data Exchange (ETDEWEB)

    Chekanov, S.; Derrick, M.; Magill, S. [Argonne National Lab., Argonne, IL (US)] (and others)

    2008-12-15

    Measurements of the neutral current cross sections for deep inelastic scattering in e{sup -}p collisions at HERA with a longitudinally polarised electron beam are presented. The single-differential cross-sections d{sigma}/dQ{sup 2}, d{sigma}/dx and d{sigma}/dy and the double-differential cross sections in Q{sup 2} and x are measured in the kinematic region y < 0.9 and Q{sup 2} > 185GeV{sup 2} for both positively and negatively polarised electron beams and for each polarisation state separately. The measurements are based on an integrated luminosity of 169.9 pb{sup -1} taken with the ZEUS detector in 2005 and 2006 at a centre-of-mass energy of 318GeV. The structure functions xF{sub 3} and xF{sub 3}{sup {gamma}}{sup Z} are determined by combining the e{sup -}p results presented in this paper with previously measured e{sup +}p neutral current data. The asymmetry parameter A{sup -} is used to demonstrate the parity violating effects of electroweak interactions at large spacelike photon virtuality. The measurements agree well with the predictions of the Standard Model. (orig.)

  14. Hydrazine-hydrothermal syntheses, characterizations and photoelectrochemical properties of two quaternary chalcogenidoantimonates(III) BaCuSbQ{sub 3} (Q = S, Se)

    Energy Technology Data Exchange (ETDEWEB)

    Liu, Chang; Hou, Peipei [State Key Laboratory of Silicon Materials, School of Materials Science and Engineering, Zhejiang University, Hangzhou 310027 (China); Chai, Wenxiang [College of Materials Science and Engineering, China Jiliang University, Hangzhou 310018 (China); Tian, Jiawei; Zheng, Xuerong; Shen, Yaying; Zhi, Mingjia; Zhou, Chunmei [State Key Laboratory of Silicon Materials, School of Materials Science and Engineering, Zhejiang University, Hangzhou 310027 (China); Liu, Yi, E-mail: liuyimse@zju.edu.cn [State Key Laboratory of Silicon Materials, School of Materials Science and Engineering, Zhejiang University, Hangzhou 310027 (China)

    2016-09-15

    Two isostructural quaternary chalcogenidoantimonates(III) BaCuSbQ{sub 3} (Q = S, Se): BaCuSbS{sub 3} (1) and BaCuSbSe{sub 3} (2) have been successfully synthesized through a facile hydrazine-hydrothermal method. Both two compounds crystallize in the orthorhombic space group and feature a three-dimensional (3D) channeled [Cu{sub 2}Sb{sub 2}Q{sub 6}]{sup 4-} framework, which is constructed by the distorted tetrahedral CuQ{sub 4} and pyramid SbQ{sub 3} units via vertex sharing. Both optical properties and theoretical studies show 1 and 2 are semiconductors with narrow band gaps. In addition, their photoelectrochemical properties have been investigated. - Highlights: • BaCuSbQ{sub 3} (Q = S, Se) were synthesized through a hydrazine-hydrothermal method. • BaCuSbQ{sub 3} (Q = S, Se) feature a 3D framework by single-crystal X-ray diffraction. • Experimental and theoretical studies confirm BaCuSbQ{sub 3} (Q = S, Se) are semiconductors. • Photoelectrochemical properties of BaCuSbQ{sub 3} (Q = S, Se) have been investigated.

  15. Mellin moments of the O(αs3) heavy flavor contributions to unpolarized deep-inelastic scattering at Q2 >> m2 and anomalous dimensions

    International Nuclear Information System (INIS)

    Bierenbaum, I.; Bluemlein, J.; Klein, S.

    2009-04-01

    We calculate the O(α s 3 ) heavy flavor contributions to theWilson coefficients of the structure function F 2 (x,Q 2 ) and the massive operator matrix elements (OMEs) for the twist-2 operators of unpolarized deeply inelastic scattering in the region Q 2 >>m 2 . The massive Wilson coefficients are obtained as convolutions of massive OMEs and the known light flavor Wilson coefficients. We also compute the massive OMEs which are needed to evaluate heavy flavor parton distributions in the variable flavor number scheme (VFNS) to 3-loop order. All contributions to the Wilson coefficients and operator matrix elements but the genuine constant terms at O(α s 3 ) of the OMEs are derived in terms of quantities, which are known for general values in the Mellin variable N. For the operator matrix elements A (3) Qg , A (3) gq,Q and A (3) gg,Q the moments N=2 to 10, for A (3),PS Qq to N=12, and for A (3),NS qq,Q , A (3),PS qq,Q , A (3),PS gq,Q to N=14 are computed. These terms contribute to the light flavor +-combinations. For the flavor non-singlet terms, we calculate as well the odd moments N=1 to 13, corresponding to the light flavor --combinations. We also obtain the moments of the 3-loop anomalous dimensions, their color projections for the present processes respectively, in an independent calculation, which agree with the results given in the literature. (orig.)

  16. Treatment of CoQ(10 deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effects.

    Directory of Open Access Journals (Sweden)

    Luis C López

    2010-07-01

    Full Text Available Coenzyme Q(10 (CoQ(10 and its analogs are used therapeutically by virtue of their functions as electron carriers, antioxidant compounds, or both. However, published studies suggest that different ubiquinone analogs may produce divergent effects on oxidative phosphorylation and oxidative stress.To test these concepts, we have evaluated the effects of CoQ(10, coenzyme Q(2 (CoQ(2, idebenone, and vitamin C on bioenergetics and oxidative stress in human skin fibroblasts with primary CoQ(10 deficiency. A final concentration of 5 microM of each compound was chosen to approximate the plasma concentration of CoQ(10 of patients treated with oral ubiquinone. CoQ(10 supplementation for one week but not for 24 hours doubled ATP levels and ATP/ADP ratio in CoQ(10 deficient fibroblasts therein normalizing the bioenergetics status of the cells. Other compounds did not affect cellular bioenergetics. In COQ2 mutant fibroblasts, increased superoxide anion production and oxidative stress-induced cell death were normalized by all supplements.THESE RESULTS INDICATE THAT: 1 pharmacokinetics of CoQ(10 in reaching the mitochondrial respiratory chain is delayed; 2 short-tail ubiquinone analogs cannot replace CoQ(10 in the mitochondrial respiratory chain under conditions of CoQ(10 deficiency; and 3 oxidative stress and cell death can be counteracted by administration of lipophilic or hydrophilic antioxidants. The results of our in vitro experiments suggest that primary CoQ(10 deficiencies should be treated with CoQ(10 supplementation but not with short-tail ubiquinone analogs, such as idebenone or CoQ(2. Complementary administration of antioxidants with high bioavailability should be considered if oxidative stress is present.

  17. Q.C.D. estimates of hadronic cross sections

    International Nuclear Information System (INIS)

    Navelet, H.; Peschanski, R.

    1983-03-01

    Estimates for hadron-hadron cross-sections are made using the leading log approximation of Q.C.D. The rise of the total inelastic pp cross-sections at high energy is reproduced, thanks to the competition between the small parton-parton interaction and the large multiplicity of gluons predicted by Q.C.D

  18. 22q11.2 Deletion syndrome is associated with perioperative outcome in tetralogy of Fallot.

    Science.gov (United States)

    Mercer-Rosa, Laura; Pinto, Nelangi; Yang, Wei; Tanel, Ronn; Goldmuntz, Elizabeth

    2013-10-01

    We sought to investigate the impact of 22q11.2 deletion on perioperative outcome in tetralogy of Fallot. We conducted a retrospective review of patients with tetralogy of Fallot who underwent complete surgical reconstruction at The Children's Hospital of Philadelphia between 1995 and 2006. Inclusion criteria included diagnosis of tetralogy of Fallot and known genotype. Fisher exact and Mann-Whitney tests were used for categoric and continuous variables, respectively. Regression analysis was used to determine whether deletion status predicts outcome. We studied 208 subjects with tetralogy of Fallot, 164 (79%) without and 44 (20%) with 22q11.2 deletion syndrome. There were no differences in sex, race, gestational age, age at diagnosis, admission weight, and duration of mechanical ventilation. Presenting anatomy, survival, complications and reoperations were also comparable between patients with and without 22q11.2 deletion syndrome. Those with 22q11.2 deletion syndrome had more aortopulmonary shunts preceding complete surgical repair (21% vs 7%, P = .02). This association was present after adjustment for presenting anatomy (stenosis, atresia, or absence of pulmonary valve and common atrioventricular canal) and surgical era. In addition, those with 22q11.2 deletion syndrome had longer cardiopulmonary bypass time (84 vs 72 minutes, P = .02) and duration of intensive care (6 vs 4 days, P = .007). Genotype affects early operative outcomes in tetralogy of Fallot resulting, in particular, in longer duration of intensive care. Future studies are required to determine factors contributing to such differences in this susceptible population. Copyright © 2013 The American Association for Thoracic Surgery. Published by Mosby, Inc. All rights reserved.

  19. Measurement of high-Q{sup 2} charged current cross sections in e{sup +}p deep inelastic scattering at HERA

    Energy Technology Data Exchange (ETDEWEB)

    Rautenberg, J

    2004-06-01

    Cross sections for charged current deep inelastic scattering have been measured in e{sup +}p collisions at a center-of-mass energy of 318 GeV. The data collected with the ZEUS detector at HERA in the running periods 1999 and 2000 correspond to an integrated luminosity of 61 pb{sup -1}. Single differential cross sections d{sigma}/dQ{sup 2}, d{sigma}/dx and d{sigma}/dy have been measured for Q{sup 2}>200 GeV{sup 2}, as well as the double differential reduced cross section d{sup 2}{sigma}/dxdQ{sup 2} in the kinematic range 280 GeV{sup 2}<Q{sup 2}<17000 GeV{sup 2} and 0.008 Q{sup 2}. (orig.)

  20. Loss of 11q and 16q in Wilms tumors is associated with anaplasia, tumor recurrence, and poor prognosis.

    Science.gov (United States)

    Wittmann, Stefanie; Zirn, Birgit; Alkassar, Muhannad; Ambros, Peter; Graf, Norbert; Gessler, Manfred

    2007-02-01

    Allele loss of chromosome arms 11q and 16q in Wilms tumors has been associated with different clinical parameters in prior studies. To substantiate these findings in a large collection of tumors treated according to the GPOH/SIOP protocol and to narrow down critical regions, we performed loss of heterozygosity (LOH) analyses of chromosome arms 11q and 16q on 225 Wilms tumors. On chromosome arm 11q an overall rate of allele loss of 19.6% (44 of 225 tumors) was found us