Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2)

BACKGROUND: Long-QT syndrome (LQTS) causes a prolongation of the QT-interval in the ECG leading to life threatening tachyarrhythmia and ventricular fibrillation. One atypical form of LQTS, Timothy syndrome (TS), is associated with syndactyly, immune deficiency, cognitive and neurological abnormalities as well as distinct cranio-facial abnormalities. CASE PRESENTATION: On a family with both children diagnosed with clinical LQTS, we performed whole exome sequencing to comprehensively screen for causative mutations after a targeted candidate gene panel screen for Long-QT syndrome target genes failed to identify any underlying genetic defect. Using exome sequencing, we identified in both affected children, a p.402G > S mutation in exon 8 of the CACNA1C gene, a voltage-dependent Ca2+ channel. The mutation was inherited from their father, a mosaic mutation carrier. Based on this molecular finding and further more careful clinical examination, we refined the diagnosis to be Timothy syndrome (TS2) and thereby were able to present new therapeutic approaches. CONCLUSIONS: Our study highlights the difficulties in accurate diagnosis of patients with rare diseases, especially those with atypical clinical manifestation. Such challenge could be addressed with the help of comprehensive and unbiased mutation screening, such as exome sequencing

Aspects of Two-Photon Physics at Linear e+e- Colliders

We discuss various reactions at future e+e- and gamma-gamma colliders involving real (beamstrahlung or backscattered laser) or quasi--real (bremsstrahlung) photons in the initial state and hadrons in the final state. The production of two central jets with large pT is described in some detail; we give distributions for the rapidity and pT of the jets as well as the di--jet invariant mass, and discuss the relative importance of various initial state configurations and the uncertainties in our predictions. We also present results for `mono--jet' production where one jet goes down a beam pipe, for the production of charm, bottom and top quarks, and for single production of W and Z bosons. Where appropriate, the two--photon processes are compared with annihilation reactions leading to similar final states. We also argue that the behaviour of the total inelastic gamma-gamma cross section at high energies will probably have little impact on the severity of background problems caused by soft and semi--hard (`minijet') two--photon reactions. We find very large differences in cross sections for all two--photon processes between existing designs for future e+e- colliders, due to the different beamstrahlung spectra; in particular, both designs with >1 events per bunch crossing exist.Comment: 51 pages, 13 figures(not included

Pb0.4Bi1.6Sr2Ca1Cu2O8+xPb_{0.4}Bi_{1.6}Sr_{2}Ca_{1}Cu_{2}O_{8+x} and Oxygen Stoichiometry: Structure, Resistivity, Fermi Surface Topology and Normal State Properties

$Pb_{0.4}Bi_{1.6}Sr_2CaCu_2O_{8+x}$ ($Bi(Pb)-$2212) single crystal samples were studied using transmission electron microscopy (TEM), $ab-$plane ($\rho_{ab}$) and $c-$axis ($\rho_c$) resistivity, and high resolution angle-resolved ultraviolet photoemission spectroscopy (ARUPS). TEM reveals that the modulation in the $b-$axis for $Pb(0.4)-$doped $Bi(Pb)-$2212 is dominantly of $Pb-$type that is not sensitive to the oxygen content of the system, and the system clearly shows a structure of orthorhombic symmetry. Oxygen annealed samples exhibit a much lower $c-$axis resistivity and a resistivity minimum at $80-130$K. He-annealed samples exhibit a much higher $c-$axis resistivity and $d\rho_c/dT<0$ behavior below 300K. The Fermi surface (FS) of oxygen annealed $Bi(Pb)-$2212 mapped out by ARUPS has a pocket in the FS around the $\bar{M}$ point and exhibits orthorhombic symmetry. There are flat, parallel sections of the FS, about 60\% of the maximum possible along $k_x = k_y$, and about 30\% along $k_x = - k_y$. The wavevectors connecting the flat sections are about $0.72(\pi, \pi)$ along $k_x = k_y$, and about $0.80(\pi, \pi)$ along $k_x = - k_y$, rather than $(\pi,\pi)$. The symmetry of the near-Fermi-energy dispersing states in the normal state changes between oxygen-annealed and He-annealed samples.Comment: APS_REVTEX 3.0, 49 pages, including 11 figures, available upon request. Submitted to Phys. Rev. B

Model for fermion mass matrices and the origin of quark-lepton symmetry

Several phenomenological features of fermion masses and mixings can be accounted for by a simple model for fermion mass matrices, which suggests an underlying U(2) horizontal symmetry. In this context, it is also proposed how an approximate quark-lepton symmetry can be achieved without unified gauge theories.Comment: 12 pages, RevTex. Minor changes, some references adde

Measurements of the Mass and Full-Width of the ηc\eta_c Meson

In a sample of 58 million $J/\psi$ events collected with the BES II detector, the process J/$\psi\to\gamma\eta_c$ is observed in five different decay channels: $\gamma K^+K^-\pi^+\pi^-$, $\gamma\pi^+\pi^-\pi^+\pi^-$, $\gamma K^\pm K^0_S \pi^\mp$ (with $K^0_S\to\pi^+\pi^-$), $\gamma \phi\phi$ (with $\phi\to K^+K^-$) and $\gamma p\bar{p}$. From a combined fit of all five channels, we determine the mass and full-width of $\eta_c$ to be $m_{\eta_c}=2977.5\pm1.0 ({stat.})\pm1.2 ({syst.})$ MeV/$c^2$ and $\Gamma_{\eta_c} = 17.0\pm3.7 ({stat.})\pm7.4 ({syst.})$ MeV/$c^2$.Comment: 9 pages, 2 figures and 4 table. Submitted to Phys. Lett.

Partial Wave Analysis of the Reaction p(3.5GeV)+p→pK+Λp(3.5 GeV)+p \to pK^+\Lambda to Search for the "ppK−ppK^-" Bound State

Employing the Bonn-Gatchina partial wave analysis framework (PWA), we have analyzed HADES data of the reaction $p(3.5GeV)+p\to pK^{+}\Lambda$. This reaction might contain information about the kaonic cluster "$ppK^-$" via its decay into $p\Lambda$. Due to interference effects in our coherent description of the data, a hypothetical $\overline{K}NN$ (or, specifically "$ppK^-$") cluster signal must not necessarily show up as a pronounced feature (e.g. a peak) in an invariant mass spectra like $p\Lambda$. Our PWA analysis includes a variety of resonant and non-resonant intermediate states and delivers a good description of our data (various angular distributions and two-hadron invariant mass spectra) without a contribution of a $\overline{K}NN$ cluster. At a confidence level of CL$_{s}$=95\% such a cluster can not contribute more than 2-12\% to the total cross section with a $pK^{+}\Lambda$ final state, which translates into a production cross-section between 0.7 $\mu b$ and 4.2 $\mu b$, respectively. The range of the upper limit depends on the assumed cluster mass, width and production process.Comment: 7 Pages, 5 Figure

Determination of the number of psi ' events at BESIII

The number of psi' events accumulated by the BESIII experiment from March 3 through April 14, 2009, is determined by counting inclusive hadronic events. The result is 106.41x(1.00+/-0.81%)x10(6). The error is systematic dominant; the statistical error is negligible

Production of Sigma{\pm}pi?pK+ in p+p reactions at 3.5 GeV beam energy

We study the production of Sigma^+-pi^+-pK^+ particle quartets in p+p reactions at 3.5 GeV kinetic beam energy. The data were taken with the HADES experiment at GSI. This report evaluates the contribution of resonances like Lambda(1405$, Sigma(1385)^0, Lambda(1520), Delta(1232), N^* and K^*0 to the Sigma^+- pi^-+ p K+ final state. The resulting simulation model is compared to the experimental data in several angular distributions and it shows itself as suitable to evaluate the acceptance corrections properly.Comment: 15 pages, 5 figure

Azimuthal anisotropy and correlations in p+p, d+Au and Au+Au collisions at 200 GeV

We present the first measurement of directed flow ($v_1$) at RHIC. $v_1$ is found to be consistent with zero at pseudorapidities $\eta$ from -1.2 to 1.2, then rises to the level of a couple of percent over the range $2.4 < |\eta| < 4$. The latter observation is similar to data from NA49 if the SPS rapidities are shifted by the difference in beam rapidity between RHIC and SPS. Back-to-back jets emitted out-of-plane are found to be suppressed more if compared to those emitted in-plane, which is consistent with {\it jet quenching}. Using the scalar product method, we systematically compared azimuthal correlations from p+p, d+Au and Au+Au collisions. Flow and non-flow from these three different collision systems are discussed.Comment: Quark Matter 2004 proceeding, 4 pages, 3 figure