Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes

Background: Congenital dilatation of the bile-duct (CDD) is a rare, mostly sporadic, disorder that results in bile retention with severe associated complications. CDD affects mainly Asians. To our knowledge, no genetic study has ever been conducted. Methods: We aim to identify genetic risk factors by a “trio-based” exome-sequencing approach, whereby 31 CDD probands and their unaffected parents were exome-sequenced. Seven-hundred controls from the local population were used to detect gene-sets significantly enriched with rare variants in CDD patients. Results: Twenty-one predicted damaging de novo variants (DNVs; 4 protein truncating and 17 missense) were identified in several evolutionarily constrained genes (p < 0.01). Six genes carrying DNVs were associated with human developmental disorders involving epithelial, connective or bone morphologies (PXDN, RTEL1, ANKRD11, MAP2K1, CYLD, ACAN) and four linked with cholangio- and hepatocellular carcinomas (PIK3CA, TLN1 CYLD, MAP2K1). Importantly, CDD patients have an excess of DNVs in cancer-related genes (p < 0.025). Thirteen genes were recurrently mutated at different sites, forming compound heterozygotes or functionally related complexes within patients. Conclusions: Our data supports a strong genetic basis for CDD and show that CDD is not only genetically heterogeneous but also non-monogenic, requiring mutations in more than one genes for the disease to develop. The data is consistent with the rarity and sporadic presentation of CDD

Foot Placement and Arm Position Affect the Five Times Sit-to-Stand Test Time of Individuals with Chronic Stroke

Objectives. To investigate the effect of two foot placements (normal or posterior placement) and three arm positions (hands on the thighs, arms crossed over chest, and augmented arm position with elbow extended) on the five times sit-to-stand (FTSTS) test times of individuals with chronic stroke. Design. Cross-sectional study. Setting. University-based rehabilitation clinic. Participants. A convenience sample of community-dwelling individuals with chronic stroke ( = 45). Methods. The times in completing the FTSTS with two foot placements and the three arm positions were recorded by stopwatch. Results. Posterior foot placement led to significantly shorter FTSTS times when compared with normal foot placement in all the 3 arm positions ( ≤ 0.001). In addition, hands on thigh position led to significantly longer FTSTS times than the augmented arm position ( = 0.014). Conclusion. Our results showed that foot placement and arm position could influence the FTSTS times of individuals with chronic stroke. Standardizing the foot placement and arm position in the test procedure is essential, if FTSTS test is intended to be used repeatedly on the same subject

Weak Decays in the light--front Quark Model

We study the form factors of heavy--to--heavy and heavy--to--light weak decays using the light--front relativistic quark model. For the heavy--to--heavy B \ra D^{(\ast)} semileptonic decays we calculate the corresponding Isgur--Wise function for the whole kinematic region. For the heavy--to--light B\ra P and B\ra V semileptonic decays we calculate the form factors at $q^2 = 0$; in particular, we have derived the dependence of the form factors on the $b$--quark mass in the m_b \ra \infty limit. This dependence can not be produced by extrapolating the scaling behavior of the form factors at $q^2_{max}$ using the single--pole assumption. This shows that the $q^2$ dependence of the form factors in regions far away from the zero--recoil could be much more complicated than that predicted by the single--pole assumption.Comment: 24 pages, Latex, Postscript figure included at the en

Rewritable nanoscale oxide photodetector

Nanophotonic devices seek to generate, guide, and/or detect light using structures whose nanoscale dimensions are closely tied to their functionality. Semiconducting nanowires, grown with tailored optoelectronic properties, have been successfully placed into devices for a variety of applications. However, the integration of photonic nanostructures with electronic circuitry has always been one of the most challenging aspects of device development. Here we report the development of rewritable nanoscale photodetectors created at the interface between LaAlO3 and SrTiO3. Nanowire junctions with characteristic dimensions 2-3 nm are created using a reversible AFM writing technique. These nanoscale devices exhibit a remarkably high gain for their size, in part because of the large electric fields produced in the gap region. The photoconductive response is gate-tunable and spans the visible-to-near-infrared regime. The ability to integrate rewritable nanoscale photodetectors with nanowires and transistors in a single materials platform foreshadows new families of integrated optoelectronic devices and applications.Comment: 5 pages, 5 figures. Supplementary Information 7 pages, 9 figure

Charmed Baryon Strong Coupling Constants in a Light-Front Quark Model

Light-Front quark model spin wave functions are employed to calculate the three independent couplings g_{\Sigma_c \Lambda_c \pi}, f_{\Lambda_{c1} \Sigma_c \pi} and f_{\Lambda^{*}_{c1} \Sigma_c \pi} of S-wave to S-wave and P-wave to S-wave one-pion transitions. It is found that g_{\Sigma_c \Lambda_c \pi}=6.81 MeV^{-1}, f_{\Lambda_{c1} \Sigma_c \pi}=1.16 and f_{\Lambda^{*}_{c1} \Sigma_c \pi}=0.96 . 10^{-4} MeV^{-2}. We also predict decay rates for specific strong transitions of charmed baryons.Comment: 21 Pages, No figures, LaTeX, some typos correcte

A search for resonant production of ttˉt\bar{t} pairs in $4.8\ \rm{fb}^{-1}ofintegratedluminosityof of integrated luminosity of p\bar{p}collisionsat collisions at \sqrt{s}=1.96\ \rm{TeV}$

We search for resonant production of tt pairs in 4.8 fb^{-1} integrated luminosity of ppbar collision data at sqrt{s}=1.96 TeV in the lepton+jets decay channel, where one top quark decays leptonically and the other hadronically. A matrix element reconstruction technique is used; for each event a probability density function (pdf) of the ttbar candidate invariant mass is sampled. These pdfs are used to construct a likelihood function, whereby the cross section for resonant ttbar production is estimated, given a hypothetical resonance mass and width. The data indicate no evidence of resonant production of ttbar pairs. A benchmark model of leptophobic Z \rightarrow ttbar is excluded with m_{Z'} < 900 GeV at 95% confidence level.Comment: accepted for publication in Physical Review D Sep 21, 201

Quasiparticle interfacial level alignment of highly hybridized frontier levels: H2_2O on TiO2_2(110)

Knowledge of the frontier levels' alignment prior to photo-irradiation is necessary to achieve a complete quantitative description of H$_2$O photocatalysis on TiO$_2$(110). Although H$_2$O on rutile TiO$_2$(110) has been thoroughly studied both experimentally and theoretically, a quantitative value for the energy of the highest H$_2$O occupied levels is still lacking. For experiment, this is due to the H$_2$O levels being obscured by hybridization with TiO$_2$(110) levels in the difference spectra obtained via ultraviolet photoemission spectroscopy (UPS). For theory, this is due to inherent difficulties in properly describing many-body effects at the H$_2$O-TiO$_2$(110) interface. Using the projected density of states (DOS) from state-of-the-art quasiparticle (QP) $G_0W_0$, we disentangle the adsorbate and surface contributions to the complex UPS spectra of H$_2$O on TiO$_2$(110). We perform this separation as a function of H$_2$O coverage and dissociation on stoichiometric and reduced surfaces. Due to hybridization with the TiO$_2$(110) surface, the H$_2$O 3a$_1$ and 1b$_1$ levels are broadened into several peaks between 5 and 1 eV below the TiO$_2$(110) valence band maximum (VBM). These peaks have both intermolecular and interfacial bonding and antibonding character. We find the highest occupied levels of H$_2$O adsorbed intact and dissociated on stoichiometric TiO$_2$(110) are 1.1 and 0.9 eV below the VBM. We also find a similar energy of 1.1 eV for the highest occupied levels of H$_2$O when adsorbed dissociatively on a bridging O vacancy of the reduced surface. In both cases, these energies are significantly higher (by 0.6 to 2.6 eV) than those estimated from UPS difference spectra, which are inconclusive in this energy region. Finally, we apply self-consistent QP$GW$ (scQP$GW$1) to obtain the ionization potential of the H$_2$O-TiO$_2$(110) interface.Comment: 12 pages, 12 figures, 1 tabl

Measurement of the Lifetime Difference Between B_s Mass Eigenstates

We present measurements of the lifetimes and polarization amplitudes for B_s --> J/psi phi and B_d --> J/psi K*0 decays. Lifetimes of the heavy (H) and light (L) mass eigenstates in the B_s system are separately measured for the first time by determining the relative contributions of amplitudes with definite CP as a function of the decay time. Using 203 +/- 15 B_s decays, we obtain tau_L = (1.05 +{0.16}/-{0.13} +/- 0.02) ps and tau_H = (2.07 +{0.58}/-{0.46} +/- 0.03) ps. Expressed in terms of the difference DeltaGamma_s and average Gamma_s, of the decay rates of the two eigenstates, the results are DeltaGamma_s/Gamma_s = (65 +{25}/-{33} +/- 1)%, and DeltaGamma_s = (0.47 +{0.19}/-{0.24} +/- 0.01) inverse ps.Comment: 8 pages, 3 figures, 2 tables; as published in Physical Review Letters on 16 March 2005; revisions are for length and typesetting only, no changes in results or conclusion

Measurement of the Strong Coupling Constant from Inclusive Jet Production at the Tevatron pˉp\bar pp Collider

We report a measurement of the strong coupling constant, $\alpha_s(M_Z)$, extracted from inclusive jet production in $p\bar{p}$ collisions at $\sqrt{s}=$1800 GeV. The QCD prediction for the evolution of $\alpha_s$ with jet transverse energy $E_T$ is tested over the range 40<$E_T$<450 GeV using $E_T$ for the renormalization scale. The data show good agreement with QCD in the region below 250 GeV. In the text we discuss the data-theory comparison in the region from 250 to 450 GeV. The value of $\alpha_s$ at the mass of the $Z^0$ boson averaged over the range 40<$E_T$<250 GeV is found to be $\alpha_s(M_{Z})= 0.1178 \pm 0.0001{(\rm stat)}^{+0.0081}_{-0.0095}{\rm (exp. syst)}$. The associated theoretical uncertainties are mainly due to the choice of renormalization scale (^{+6%}_{-4%}) and input parton distribution functions (5%).Comment: 7 pages, 3 figures, using RevTeX. Submitted to Physical Review Letter