4,287 research outputs found
Chromosomal in situ suppression hybridization of human gonosomes and autosomes and its use in clinical cytogenetics
DNA libraries from sorted human gonosomes were used selectively to stain the X and Y chromosomes in normal and aberrant cultured human cells by chromosomal in situ suppression (CISS-) hybridization. The entire X chromosome was stained in metaphase spreads. Interphase chromosome domains of both the active and inactive X were clearly delineated. CISS-hybridization of the Y chromosome resulted in the specific decoration of the euchromatic part (Ypter-q11), whereas the heterochromatic part (Yq12) remained unlabeled. The stained part of the Y chromosome formed a compact domain in interphase nuclei. This approach was applied to amniotic fluid cells containing a ring chromosome of unknown origin (47,XY; +r). The ring chromosome was not stained by library probes from the gonosomes, thereby suggesting its autosomal origin. The sensitivity of CISS-hybridization was demonstrated by the detection of small translocations and fragments in human lymphocyte metaphase spreads after irradiation with 60Co-gamma-rays. Lymphocyte cultures from two XX-males were investigated by CISS-hybridization with Y-library probes. In both cases, metaphase spreads demonstrated a translocation of Yp-material to the short arm of an X chromosome. The translocated Y-material could also be demonstrated directly in interphase nuclei. CISS-hybridization of autosomes 7 and 13 was used for prenatal diagnosis in a case with a known balanced translocation t(7;13) in the father. The same translocation was observed in amniotic fluid cells from the fetus. Specific staining of the chromosomes involved in such translocations will be particularly important, in the future, in cases that cannot be solved reliably by conventional chromosome banding alone
Optimized Effective Potential Method in Current-Spin Density Functional Theory
Current-spin density functional theory (CSDFT) provides a framework to
describe interacting many-electron systems in a magnetic field which couples to
both spin- and orbital-degrees of freedom. Unlike in usual (spin-) density
functional theory, approximations to the exchange-correlation energy based on
the model of the uniform electron gas face problems in practical applications.
In this work, explicitly orbital-dependent functionals are used and a
generalization of the Optimized Effective Potential (OEP) method to the CSDFT
framework is presented. A simplifying approximation to the resulting integral
equations for the exchange-correlation potentials is suggested. A detailed
analysis of these equations is carried out for the case of open-shell atoms and
numerical results are given using the exact-exchange energy functional. For
zero external magnetic field, a small systematic lowering of the total energy
for current-carrying states is observed due to the inclusion of the current in
the Kohn-Sham scheme. For states without current, CSDFT results coincide with
those of spin density functional theory.Comment: 11 pages, 3 figure
The Reconstructed Cohort Design: A Method to Study Rare Neurodegenerative Diseases in Population-Based Settings
Rare neurodegenerative diseases are characterized by high heterogeneity and high clinical complexity, as well as low incidence and prevalence, thus making tracking small numbers of incident cases in the general population very challenging. Since it is not possible to use classical cohort studies to estimate the incidence of these rare diseases, we can "reconstruct" a theoretical cohort using case information from a well-defined geographic region collected through a surveillance system. The incidence rate is estimated as the ratio between the number of individuals at risk who were diagnosed with the disease of interest during the study period and the estimated overall amount of time individuals in the reference population spent at risk during the study period. If a series of assumptions are met, the approximate incidence proportion of a closed theoretical cohort without competing events and with the same follow-up duration can be calculated by multiplying the incidence rate with the length of the study time. This rationale relies on the presence of an effective referral system, which links all levels of the healthcare system together in the region, from general practitioners to specialized clinical centers. The reconstructed cohort design is a valid and cost-effective method to collect data on the incidence of rare neurodegenerative diseases and represents the theoretical framework for building up population-based registries
The ratio FK/Fpi in QCD
We determine the ratio FK/Fpi in QCD with Nf=2+1 flavors of sea quarks, based
on a series of lattice calculations with three different lattice spacings,
large volumes and a simulated pion mass reaching down to about 190 MeV. We
obtain FK/Fpi=1.192 +/- 0.007(stat) +/- 0.006(syst). This result is then used
to give an updated value of the CKM matrix element |Vus|. The unitarity
relation for the first row of this matrix is found to be well observed.Comment: 15 pages, 4 figures, 2 table
Exchange-correlation orbital functionals in current-density-functional theory: Application to a quantum dot in magnetic fields
The description of interacting many-electron systems in external magnetic
fields is considered in the framework of the optimized effective potential
method extended to current-spin-density functional theory. As a case study, a
two-dimensional quantum dot in external magnetic fields is investigated.
Excellent agreement with quantum Monte Carlo results is obtained when
self-interaction corrected correlation energies from the standard local
spin-density approximation are added to exact-exchange results. Full
self-consistency within the complete current-spin-density-functional framework
is found to be of minor importance.Comment: 5 pages, 2 figures, submitted to PR
The Effect of 45{\deg} Grain Boundaries and associated Fe particles on Jc and resistivity in Ba(Fe0.9Co0.1)2As2 Thin Films
The anisotropy of the critical current density Jc depends in general on both
the properties of the flux lines (such as line tension, coherence length and
penetration depth) and the properties of the defects (such as density, shape,
orientation etc.). Whereas the Jc anisotropy in microstructurally clean films
can be scaled to an effective magnetic field containing the Ginzburg-Landau
anisotropy term, it is in general not possible (or only in a limited field
range) for samples containing extended defects. Here, the Jc anisotropy of a
Co-doped BaFe2As2 sample with 45{\deg} [001] tilt grain boundaries (GBs), i.e.
grain boundaries created by 45{\deg} in-plane rotated grains, as well as
extended Fe particles is investigated. This microstructure leads to c-axis
correlated pinning, both due to the GBs and the Fe particles and manifests in a
c-axis peak in the Jc anisotropy at low magnetic fields and a deviation from
the anisotropic Ginzburg-Landau scaling at higher fields. Strong pinning at
ellipsoidal extended defects, i.e. the Fe particles, is discussed, and the full
Jc anisotropy is fitted successfully with the vortex path model. The results
are compared to a sample without GBs and Fe particles. 45{\deg} GBs seem to be
good pinning centers rather than detrimental to current flow.Comment: 8 pages, 7 figures, CEC-ICMC 2013 proceeding, accepted for
publication in Advances in Cryogenic Engineering (Materials
Precision computation of the kaon bag parameter
Indirect CP violation in K \rightarrow {\pi}{\pi} decays plays a central role
in constraining the flavor structure of the Standard Model (SM) and in the
search for new physics. For many years the leading uncertainty in the SM
prediction of this phenomenon was the one associated with the nonperturbative
strong interaction dynamics in this process. Here we present a fully controlled
lattice QCD calculation of these effects, which are described by the neutral
kaon mixing parameter B_K . We use a two step HEX smeared clover-improved
Wilson action, with four lattice spacings from a\approx0.054 fm to
a\approx0.093 fm and pion masses at and even below the physical value.
Nonperturbative renormalization is performed in the RI-MOM scheme, where we
find that operator mixing induced by chiral symmetry breaking is very small.
Using fully nonperturbative continuum running, we obtain our main result
B_K^{RI}(3.5GeV)=0.531(6)_{stat}(2)_{sys}. A perturbative 2-loop conversion
yields B_K^{MSbar-NDR}(2GeV)=0.564(6)_{stat}(3)_{sys}(6)_{PT}, which is in good
agreement with current results from fits to experimental data.Comment: 10 pages, 7 figures. v2: Added one reference and one figure, replaced
2 figures for better readability and updated ensembles, conclusions
unchanged. Final, published versio
Scaling behaviour of the critical current in clean epitaxial Ba(Fe1-xCox)2As2 thin films
The angular-dependent critical current density, Jc(theta), and the upper
critical field, Hc2(theta), of epitaxial Ba(Fe1-xCox)2As2 thin films have been
investigated. No Jc(theta) peaks for H || c were observed regardless of
temperatures and magnetic fields. In contrast, Jc(theta) showed a broad maximum
at theta=90 degree, which arises from intrinsic pinning. All data except at
theta=90 degree can be scaled by the Blatter plot. Hc2(theta) near Tc follows
the anisotropic Ginzburg-Landau expression. The mass anisotropy increased from
1.5 to 2 with increasing temperature, which is an evidence for multi-band
superconductivity.Comment: Accepted in Physical Review B rapid communication
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