2,462 research outputs found

    Runs of homozygosity implicate autozygosity as a schizophrenia risk factor

    Get PDF
    Autozygosity occurs when two chromosomal segments that are identical from a common ancestor are inherited from each parent. This occurs at high rates in the offspring of mates who are closely related (inbreeding), but also occurs at lower levels among the offspring of distantly related mates. Here, we use runs of homozygosity in genome-wide SNP data to estimate the proportion of the autosome that exists in autozygous tracts in 9,388 cases with schizophrenia and 12,456 controls. We estimate that the odds of schizophrenia increase by ~17% for every 1% increase in genome-wide autozygosity. This association is not due to one or a few regions, but results from many autozygous segments spread throughout the genome, and is consistent with a role for multiple recessive or partially recessive alleles in the etiology of schizophrenia. Such a bias towards recessivity suggests that alleles that increase the risk of schizophrenia have been selected against over evolutionary time

    Esophageal squamous cell carcinoma presenting with extensive skin lesions: a case report

    Get PDF
    <p>Abstract</p> <p>Introduction</p> <p>Esophageal squamous cell carcinoma (ESCC) is the most common histological subtype of cancer in the upper and middle esophagus and is characterized by a high rate of mortality. The incidence of esophageal cancer varies greatly among regions of the world and occurs at a high frequency in Asia and South America.</p> <p>Case presentation</p> <p>In our department, a 51-year-old man was diagnosed with ESCC after presenting with extensive disseminated skin nodules. Biopsy of the nodules showed metastatic ESCC. Cutaneous manifestations of esophageal neoplasia are very rare and are mainly described for esophageal adenocarcinoma (EADC). Here we report a very uncommon case of extensive skin metastases of ESCC.</p> <p>Conclusion</p> <p>Early biopsies of suspicious skin lesions are important and should be performed in patients with unclear symptoms such as weight loss or dysphagia and especially in patients with a history of cancer, since they can reveal the existence of a distant malignant disease leading to diagnosis and prompt therapy.</p

    Peptidases compartmentalized to the Ascaris suum intestinal lumen and apical intestinal membrane

    Get PDF
    The nematode intestine is a tissue of interest for developing new methods of therapy and control of parasitic nematodes. However, biological details of intestinal cell functions remain obscure, as do the proteins and molecular functions located on the apical intestinal membrane (AIM), and within the intestinal lumen (IL) of nematodes. Accordingly, methods were developed to gain a comprehensive identification of peptidases that function in the intestinal tract of adult female Ascaris suum. Peptidase activity was detected in multiple fractions of the A. suum intestine under pH conditions ranging from 5.0 to 8.0. Peptidase class inhibitors were used to characterize these activities. The fractions included whole lysates, membrane enriched fractions, and physiological- and 4 molar urea-perfusates of the intestinal lumen. Concanavalin A (ConA) was confirmed to bind to the AIM, and intestinal proteins affinity isolated on ConA-beads were compared to proteins from membrane and perfusate fractions by mass spectrometry. Twenty-nine predicted peptidases were identified including aspartic, cysteine, and serine peptidases, and an unexpectedly high number (16) of metallopeptidases. Many of these proteins co-localized to multiple fractions, providing independent support for localization to specific intestinal compartments, including the IL and AIM. This unique perfusion model produced the most comprehensive view of likely digestive peptidases that function in these intestinal compartments of A. suum, or any nematode. This model offers a means to directly determine functions of these proteins in the A. suum intestine and, more generally, deduce the wide array functions that exist in these cellular compartments of the nematode intestine

    Generating Single Microwave Photons in a Circuit

    Full text link
    Electromagnetic signals in circuits consist of discrete photons, though conventional voltage sources can only generate classical fields with a coherent superposition of many different photon numbers. While these classical signals can control and measure bits in a quantum computer (qubits), single photons can carry quantum information, enabling non-local quantum interactions, an important resource for scalable quantum computing. Here, we demonstrate an on-chip single photon source in a circuit quantum electrodynamics (QED) architecture, with a microwave transmission line cavity that collects the spontaneous emission of a single superconducting qubit with high efficiency. The photon source is triggered by a qubit rotation, as a photon is generated only when the qubit is excited. Tomography of both qubit and fluorescence photon shows that arbitrary qubit states can be mapped onto the photon state, demonstrating an ability to convert a stationary qubit into a flying qubit. Both the average power and voltage of the photon source are characterized to verify performance of the system. This single photon source is an important addition to a rapidly growing toolbox for quantum optics on a chip.Comment: 6 pages, 5 figures, hires version at http://www.eng.yale.edu/rslab/papers/single_photon_hires.pd

    Cavity Induced Interfacing of Atoms and Light

    Full text link
    This chapter introduces cavity-based light-matter quantum interfaces, with a single atom or ion in strong coupling to a high-finesse optical cavity. We discuss the deterministic generation of indistinguishable single photons from these systems; the atom-photon entanglement intractably linked to this process; and the information encoding using spatio-temporal modes within these photons. Furthermore, we show how to establish a time-reversal of the aforementioned emission process to use a coupled atom-cavity system as a quantum memory. Along the line, we also discuss the performance and characterisation of cavity photons in elementary linear-optics arrangements with single beam splitters for quantum-homodyne measurements.Comment: to appear as a book chapter in a compilation "Engineering the Atom-Photon Interaction" published by Springer in 2015, edited by A. Predojevic and M. W. Mitchel

    On the Suitability of Estelle for Multimedia Systems

    Full text link
    Formal Description Techniques have been widely used for the specification of traditional networked applications. They have not been applied to the specification of new applications such as multimedia systems yet. In this paper, we examine the FDT Estelle with respect to its suitability for multimedia system specification and automatic derivation of efficient implementations. We show that it is possible to specify certain aspects of multimedia systems, but that Estelle is not sufficient for others. The derived implementations often perform badly. We show the reasons and propose to use a slightly modified Estelle syntax and semantics to solve the problems. The implemented solution was tested successfully

    π+\pi^+ photoproduction on the proton for photon energies from 0.725 to 2.875 GeV

    Full text link
    Differential cross sections for the reaction γp→nπ+\gamma p \to n \pi^+ have been measured with the CEBAF Large Acceptance Spectrometer (CLAS) and a tagged photon beam with energies from 0.725 to 2.875 GeV. Where available, the results obtained here compare well with previously published results for the reaction. Agreement with the SAID and MAID analyses is found below 1 GeV. The present set of cross sections has been incorporated into the SAID database, and exploratory fits have been made up to 2.7 GeV. Resonance couplings have been extracted and compared to previous determinations. With the addition of these cross sections to the world data set, significant changes have occurred in the high-energy behavior of the SAID cross-section predictions and amplitudes.Comment: 18 pages, 10 figure

    Delivery of Complex Organic Compounds from Evolved Stars to the Solar System

    Get PDF
    Stars in the late stages of evolution are able to synthesize complex organic compounds with aromatic and aliphatic structures over very short time scales. These compounds are ejected into the interstellar medium and distributed throughout the Galaxy. The structures of these compounds are similar to the insoluble organic matter found in meteorites. In this paper, we discuss to what extent stellar organics has enriched the primordial Solar System and possibly the early Earth

    Differential cross sections and spin density matrix elements for the reaction gamma p -> p omega

    Full text link
    High-statistics differential cross sections and spin density matrix elements for the reaction gamma p -> p omega have been measured using the CLAS at Jefferson Lab for center-of-mass (CM) energies from threshold up to 2.84 GeV. Results are reported in 112 10-MeV wide CM energy bins, each subdivided into cos(theta_CM) bins of width 0.1. These are the most precise and extensive omega photoproduction measurements to date. A number of prominent structures are clearly present in the data. Many of these have not previously been observed due to limited statistics in earlier measurements
    • …
    corecore