256 research outputs found
Familial Micronodular Adrenocortical Disease, Cushing Syndrome, and Mutations of the Gene Encoding Phosphodiesterase 11A4 ( PDE11A)
We present the pathologic findings in the adrenal glands of 4 patients, aged 10 to 38 years, with Cushing syndrome and germline inactivating mutations of the gene PDE11A4 that encodes phosphodiesterase11A4. The gene is expressed in the adrenal cortex and catalyses the hydrolysis of cyclic adenosine monophosphate and cyclic guanosine monophosphate. Two of the patients were mother and daughter; the third had no affected relative; the fourth patient inherited the mutation from her father. Three of the group, including the mother and daughter, had the same pathology, primary pigmented nodular adrenocortical disease, a disorder known to be caused by inactivating mutations of the PRKAR1A gene. In these cases, the adrenal glands were small and the pathologic change was deep in the cortex in which numerous pigmented micronodules developed. In the remaining patient, the glands were slightly enlarged primarily owing to a diffuse hyperplasia of the superficial cortex that extended into the epi-adrenal fat
Using Genetic Variation to Explore the Causal Effect of Maternal Pregnancy Adiposity on Future Offspring Adiposity: A Mendelian Randomisation Study
Background: It has been suggested that greater maternal adiposity during pregnancy affects lifelong risk of offspring fatness via intrauterine mechanisms. Our aim was to use Mendelian randomisation (MR) to investigate the causal effect of intrauterine exposure to greater maternal body mass index (BMI) on offspring BMI and fat mass from childhood to early adulthood. Methods and Findings: We used maternal genetic variants as instrumental variables (IVs) to test the causal effect of maternal BMI in pregnancy on offspring fatness (BMI and dual-energy X-ray absorptiometry [DXA] determined fat mass index [FMI]) in a MR approach. This was investigated, with repeat measurements, from ages 7 to 18 in the Avon Longitudinal Study of Parents and Children (ALSPAC; n = 2,521 to 3,720 for different ages). We then sought to replicate findings with results for BMI at age 6 in Generation R (n = 2,337 for replication sample; n = 6,057 for total pooled sample). In confounder-adjusted multivariable regression in ALSPAC, a 1 standard deviation (SD, equivalent of 3.7 kg/m2) increase in maternal BMI was associated with a 0.25 SD (95% CI 0.21–0.29) increase in offspring BMI at age 7, with similar results at later ages and when FMI was used as the outcome. A weighted genetic risk score was generated from 32 genetic variants robus
Holographic Duals of Quark Gluon Plasmas with Unquenched Flavors
We review the construction of gravitational solutions holographically dual to
N=1 quiver gauge theories with dynamical flavor multiplets. We focus on the
D3-D7 construction and consider the finite temperature, finite quark chemical
potential case where there is a charged black hole in the dual solution.
Discussed physical outputs of the model include its thermodynamics (with
susceptibilities) and general hydrodynamic properties.Comment: Lecture presented at the Workshop "AdS/CFT and Novel Approaches to
Hadron and Heavy Ion Physics", Kavli Institute of Theoretical Physics
(KITPC), Beijing, China, 13 October 2010. Review article to be published in
Communications in Theoretical Physics. 27 pages, 2 figure
Measurement of the B0-anti-B0-Oscillation Frequency with Inclusive Dilepton Events
The - oscillation frequency has been measured with a sample of
23 million \B\bar B pairs collected with the BABAR detector at the PEP-II
asymmetric B Factory at SLAC. In this sample, we select events in which both B
mesons decay semileptonically and use the charge of the leptons to identify the
flavor of each B meson. A simultaneous fit to the decay time difference
distributions for opposite- and same-sign dilepton events gives ps.Comment: 7 pages, 1 figure, submitted to Physical Review Letter
Bose-Einstein correlations in charged current muon-neutrino interactions in the NOMAD experiment at CERN
Bose-Einstein correlations in one and two dimensions have been studied, with high statistics, in charged current muon-neutrino interaction events collected with the NOMAD detector at CERN. In one dimension the Bose-Einstein effect has been analyzed with the Goldhaber and the Kopylov-Podgoretskii phenomenological parametrizations. The Goldhaber parametrization gives the radius of the pion emission region R-G = 1.01 +/- 0.05(stat)(-0.06)(+0,09)(sys) fm and for the chaoticity parameter the value lambda = 0.40 +/- 0.03(stat)(-0.06)(+0.01) (sys). Using the Kopylov-Podgoretskii parametrization yields R-KP = 2.07 +/- 0.04(stat)(-0.14)(+0.01) (sys) fm and lambda(KP) = 0.29 +/- 0.06(stat)(-0.04)(+0,01) (sys) Different parametrizations of the long-range correlations have been also studied. The two-dimensional shape of the source has been investigated in the longitudinal comoving frame. A significant difference between the transverse and the longitudinal dimensions is observed. The high statistics of the collected sample allowed the study of the Bose-Einstein correlations as a function of rapidity, charged particle multiplicity and hadronic energy. A weak dependence of both radius and chaoticity on multiplicity and hadronic energy is found
Measurement of the CP-Violating Asymmetry Amplitude sin2
We present results on time-dependent CP-violating asymmetries in neutral B decays to several CP eigenstates. The measurements use a data sample of about 88 million Y(4S) --> B Bbar decays collected between 1999 and 2002 with the BABAR detector at the PEP-II asymmetric-energy B Factory at SLAC. We study events in which one neutral B meson is fully reconstructed in a final state containing a charmonium meson and the other B meson is determined to be either a B0 or B0bar from its decay products. The amplitude of the CP-violating asymmetry, which in the Standard Model is proportional to sin2beta, is derived from the decay-time distributions in such events. We measure sin2beta = 0.741 +/- 0.067 (stat) +/- 0.033 (syst) and |lambda| = 0.948 +/- 0.051 (stat) +/- 0.017 (syst). The magnitude of lambda is consistent with unity, in agreement with the Standard Model expectation of no direct CP violation in these modes
A search for the decay
We search for the rare flavor-changing neutral-current decay in a data sample of 82 fb collected with the {\sl BABAR}
detector at the PEP-II B-factory. Signal events are selected by examining the
properties of the system recoiling against either a reconstructed hadronic or
semileptonic charged-B decay. Using these two independent samples we obtain a
combined limit of
at the 90% confidence level. In addition, by selecting for pions rather than
kaons, we obtain a limit of using only the hadronic B reconstruction method.Comment: 7 pages, 8 postscript figures, submitted to Phys. Rev. Let
High-reflectivity broadband distributed Bragg reflector lattice matched to ZnTe
We report on the realization of a high quality distributed Bragg reflector
with both high and low refractive index layers lattice matched to ZnTe. Our
structure is grown by molecular beam epitaxy and is based on binary compounds
only. The high refractive index layer is made of ZnTe, while the low index
material is made of a short period triple superlattice containing MgSe, MgTe,
and ZnTe. The high refractive index step of Delta_n=0.5 in the structure
results in a broad stopband and the reflectivity coefficient exceeding 99% for
only 15 Bragg pairs.Comment: 4 pages, 3 figure
EuFeAs under high pressure: an antiferromagnetic bulk superconductor
We report the ac magnetic susceptibility and resistivity
measurements of EuFeAs under high pressure . By observing nearly
100% superconducting shielding and zero resistivity at = 28 kbar, we
establish that -induced superconductivity occurs at ~30 K in
EuFeAs. shows an anomalous nearly linear temperature dependence
from room temperature down to at the same . indicates that
an antiferromagnetic order of Eu moments with ~20 K persists
in the superconducting phase. The temperature dependence of the upper critical
field is also determined.Comment: To appear in J. Phys. Soc. Jpn., Vol. 78 No.
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