1,393 research outputs found
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
and Oxygen Stoichiometry: Structure, Resistivity, Fermi Surface Topology and Normal State Properties
(2212) single crystal samples
were studied using transmission electron microscopy (TEM), plane
() and axis () resistivity, and high resolution
angle-resolved ultraviolet photoemission spectroscopy (ARUPS). TEM reveals that
the modulation in the axis for doped 2212 is dominantly
of 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 axis resistivity and a resistivity minimum at
K. He-annealed samples exhibit a much higher axis resistivity and
behavior below 300K. The Fermi surface (FS) of oxygen annealed
2212 mapped out by ARUPS has a pocket in the FS around the
point and exhibits orthorhombic symmetry. There are flat, parallel sections of
the FS, about 60\% of the maximum possible along , and about 30\%
along . The wavevectors connecting the flat sections are about
along , and about along , rather than . 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 Meson
In a sample of 58 million events collected with the BES II detector,
the process J/ is observed in five different decay
channels: , , (with ), (with
) and . From a combined fit of all five
channels, we determine the mass and full-width of to be
MeV/ and
MeV/.Comment: 9 pages, 2 figures and 4 table. Submitted to Phys. Lett.
Partial Wave Analysis of the Reaction to Search for the "" Bound State
Employing the Bonn-Gatchina partial wave analysis framework (PWA), we have
analyzed HADES data of the reaction . This
reaction might contain information about the kaonic cluster "" via its
decay into . Due to interference effects in our coherent description
of the data, a hypothetical (or, specifically "")
cluster signal must not necessarily show up as a pronounced feature (e.g. a
peak) in an invariant mass spectra like . 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 cluster. At a
confidence level of CL=95\% such a cluster can not contribute more than
2-12\% to the total cross section with a final state, which
translates into a production cross-section between 0.7 and 4.2 ,
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 () at RHIC. is
found to be consistent with zero at pseudorapidities from -1.2 to 1.2,
then rises to the level of a couple of percent over the range . 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
- …