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Sample records for susan mcginty rs

  1. Susan Smith

    African Journals Online (AJOL)

    Owner

    Soveel lesers soveel lokmiddele soveel re- sponse kan gelys word om toegang tot die lees van poësie te registreer. 'n Resep om ge- trou of in ontrou na te volg, bestaan nie. Ge- lukkig nie. Susan Smith se (debuut)bundel lok my helaas nie deur die voorblad as vertrek- punt te neem nie. Aan visuele prikkelkrag gaan.

  2. Dedication - Susan L Greenblatt

    Science.gov (United States)

    Guberman, Steven L.

    2011-07-01

    Photo of Susan L Greenblatt Figure 1. Susan in May, 1994 This volume is dedicated to the memory of Susan L Greenblatt, the wife of Steven L Guberman. Susan attended 6 of the 8 dissociative recombination (DR) meetings. Her advice and wise counsel played a vital role in the organization of several of these meetings. The fifth meeting in Chicago in 2001 was her idea and it would not have occurred without her encouragement. Susan was always amused by the memory of the first group dinner at the second DR meeting at St Jacut in 1992. As we went around the dinner table identifying ourselves, it soon became her turn. Susan was a sociologist and after introducing herself she said: "I am not a chemist". A spontaneous chorus of attendees proclaimed "Neither are we!". Her husband and a few other chemists abstained. In 1983, Susan and I established the Institute for Scientific Research (ISR). The name was chosen so as to span sociology and chemical physics. Four years prior, an ophthalmologist had diagnosed a rare retinal condition of unknown origin and advised her to change her profession to one that did not involve reading. (She was able to read for the rest of her life.) Twenty years later we learned that the cause of the retinal and all her other health problems was a recently discovered rare mitochondrial mutation. Her experience with ophthalmologists and her life-long keen sense of injustice, led her to write a grant proposal to the US Department of Education to survey all ophthalmologists in the US to determine whether they were aware of and whether they told their patients about resources and aids that could help them to continue reading and participating in everyday activities. As part of the grant and based upon the survey results, she proposed to set up low-vision training programs for ophthalmology residents. We knew that the competition for funding was intense and included several well-known and more established organizations. Nevertheless, the proposal was funded

  3. Susan Flannery lahkub? / Harro Puusild

    Index Scriptorium Estoniae

    Puusild, Harro

    2008-01-01

    Ameerika teleseriaali "Vaprad ja ilusad" Stephanie Forresteri osatäitja Susan Flannery (1943) on seriaalis mänginud algusest peale s.o. 21 aastat. Lisatud intervjuu näitlejatariga. Sama ka Teleleht nr. 15, lk. 8-9 : ill

  4. In Conversation with Susan Holtz | IDRC - International ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    2010-11-26

    Nov 26, 2010 ... Susan Holtz is a private consultant and Adjunct Professor in the Environmental Planning Department of the Nova Scotia College for Art and Design. As a consultant, Ms. Holtz specializes in energy, environment, and sustainable development policy, and works on related issues as a mediator and facilitator.

  5. Roberts, Dennis C. & Komives, Susan R.

    African Journals Online (AJOL)

    Enhancing Student Learning and Development in Cross-Border Higher Education, edited by. Dennis C. Roberts and Susan R. Komives, is a book that resulted from a short-term study-abroad experience between the Universities of Maryland and San Diego with the Qatar Foundation's Education City in Doha in 2010.

  6. Design package lazy susan for the fuel retrieval system

    Energy Technology Data Exchange (ETDEWEB)

    TEDESCHI, D.J.

    1999-09-10

    This is a design package that contains the details for a Lazy Susan style small tool for the Fuel Retrieval System. The Lazy Susan tool is used to help rotate an MCO Fuel Basket when loading it. This document contains requirements, development design information, tests and test reports that pertain to the production of Lazy Susan small tool.

  7. Psychoanalytic Interpretation of Blueberries by Susan Gibb

    OpenAIRE

    Zalbidea Paniagua, Maya

    2014-01-01

    [ES] La obra de ficción digital titulada Blueberries (2009) de Susan Gibb, publicada en la ELO (Organización de literatura electrónica) invita al lector/a a viajar dentro de la mente de la protagonista para descubrir sus experiencias reales e imaginarias en las que se examinan las nociones de género, sexo, cuerpo e identidad de una mujer traumatizada. En este artículo se exploran los modos verbales y visuales en esta ficción digital breve siguiendo patrones semióticos así como se interpretan ...

  8. 75 FR 38837 - Susan Harwood Training Grant Program, FY 2010

    Science.gov (United States)

    2010-07-06

    ...: Notification of Funding Opportunity for Susan Harwood Training Grant Program, FY 2010. Funding Opportunity No... project performance period is $250,000. DATES: Targeted Topic training grant applications must be received... Links section, and then select ``Susan Harwood Training Grant Program''. Please note that on the Harwood...

  9. Susan Lindquist: Visionary scientist and peerless mentor.

    Science.gov (United States)

    Bevis, Brooke J

    2017-01-02

    The science universe is dimmer after one of our brightest stars, Susan Lee Lindquist, was taken by cancer on October 27, 2016. Sue was an innovative, creative, out-of-the-box scientific thinker. She had unique biological intuition-an instinct for both the way things worked and the right questions to ask to uncover new research insights. Her wide-ranging career began with the study of protein folding and molecular chaperones, and she went on to show that protein folding can have profound and unexpected biological effects on such diverse processes as cancer, evolution, and neurodegenerative disease. As Sue's laboratory manager, I would like to offer a ground-floor perspective on what made her an exceptional scientist, mentor, and leader. She created a harmonious, collegial environment where collaborative synergy fueled meaningful progress that will impact science for decades to come. © 2017 Bevis.

  10. Psychoanalytic Interpretation of Blueberries by Susan Gibb

    Directory of Open Access Journals (Sweden)

    Maya Zalbidea Paniagua

    2014-06-01

    Full Text Available Blueberries (2009 by Susan Gibb, published in the ELO (Electronic Literature Organization, invites the reader to travel inside the protagonist’s mind to discover real and imaginary experiences examining notions of gender, sex, body and identity of a traumatised woman. This article explores the verbal and visual modes in this digital short fiction following semiotic patterns as well as interpreting the psychological states that are expressed through poetical and technological components. A comparative study of the consequences of trauma in the protagonist will be developed including psychoanalytic theories by Sigmund Freud, Jacques Lacan and the feminist psychoanalysts: Melanie Klein and Bracha Ettinger. The reactions of the protagonist will be studied: loss of reality, hallucinations and Electra Complex, as well as the rise of defence mechanisms and her use of the artistic creativity as a healing therapy. The interactivity of the hypermedia, multiple paths and endings will be analyzed as a literary strategy that increases the reader’s capacity of empathizing with the speaker.

  11. Susan Sontag — A Forgotten Mother?

    Directory of Open Access Journals (Sweden)

    Kludia Ziewiec

    2013-01-01

    Full Text Available The article discusses new and republished translations of Susan Sontag’s work, recently launched by the Karakter publishing house: Regarding the Pan of Others, On Photography, and Against Interpretation and Other Essays. The article focuses on the elements of Sontag’s thought that make her a forgotten mother of feminist and gender theoreticians, as well as such influential critics as Michel Foucault and Roland Barthes. The article points out to continuations of Sontag’s thought in contemporary theoretical and social projects, and to the pertinence of her critical observations on theories based on metaphysics of presence: psychoanalysis, Marxism, or hermeneutics. The article also touches upon history of war photography and related war journalism, and upon the ambivalent quality of imaging of the misery of war. It also present historical and cultural circumstances of the development of Sontag’s thought in the intellectual milieu of New York in the 1960s. The discussion recapitulates the main statements of Sontag’s essays, relating them to a wider theoretical context, which is aimed at a reappraisal of the forgotten intelectual in the history of literature.

  12. Meet EPA Scientist Susan Yee, Ph.D.

    Science.gov (United States)

    Susan Yee, Ph.D., is an ecologist at EPA's Gulf Ecology Division. She is working on the Puerto Rico Sustainable Communities program, developing decision support tools to evaluate how alternative decisions impact coastal ecosystem goods and services

  13. Susan swan and the female grotesque Susan swan and the female grotesque

    Directory of Open Access Journals (Sweden)

    Suzana Bornéo Funck

    2008-04-01

    Full Text Available Introduced to readers as “the tallest woman freelance writer in Canada”, Susan Swan belongs to a generation of writers whose experimental, innovative fiction has proved vital in the contemporary project of de/re/constructing narrative practice. Her 1983 novel The Biggest Modern Woman of the World constitutes an excellent example of what critic Linda Hutcheon has termed “historiographic metafiction”—”fiction that is intensely, self-reflexively art, but is also grounded in historical, social, and political realities” (Canadian 13. As a conscious engagement with social and historical contexts, such fiction aims at destabilizing and subverting accepted patterns of belief by reconceptualizing and narrating possible subjectivities. By means of intertextuality, especially parody, it engages in an ideological critique in terms of both sexual and national politics. Introduced to readers as “the tallest woman freelance writer in Canada”, Susan Swan belongs to a generation of writers whose experimental, innovative fiction has proved vital in the contemporary project of de/re/constructing narrative practice. Her 1983 novel The Biggest Modern Woman of the World constitutes an excellent example of what critic Linda Hutcheon has termed “historiographic metafiction”—”fiction that is intensely, self-reflexively art, but is also grounded in historical, social, and political realities” (Canadian 13. As a conscious engagement with social and historical contexts, such fiction aims at destabilizing and subverting accepted patterns of belief by reconceptualizing and narrating possible subjectivities. By means of intertextuality, especially parody, it engages in an ideological critique in terms of both sexual and national politics.

  14. Collaborative Internet Projects: An Interview with Susan Silverman about Her Passion and Hobby.

    Science.gov (United States)

    Strangman, Nicole

    2002-01-01

    Outlines an interview with Susan Silverman, an instructional technology integration teacher in the Comsewogue school district in Port Jefferson Station, New York. Describes Susan's transformation from technophobe to an innovator of collaborative Internet projects. (PM)

  15. Susan Dicklitch. The Elusive Promise of NGO's | Heck | Uganda ...

    African Journals Online (AJOL)

    Susan Dicklitch. The Elusive Promise of NGO's. Simon Heck. Full Text: EMAIL FULL TEXT EMAIL FULL TEXT · DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT · http://dx.doi.org/10.4314/uj.v46i1.23044 · AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about ...

  16. Unwrapping the Thick Coat of Armor: A Conversation with Susan Albrecht

    Science.gov (United States)

    Kaff, Marilyn; Teagarden, Jim; Zabel, Robert

    2017-01-01

    Susan Albrecht's career has spanned more than 40 years. During those years she has served as an English teacher, school psychologist, behavior consultant, coordinator of services, and special education faculty member. Her contributions to the field include leadership positions with the Council for Children with Behavioral Disorders. Susan shared…

  17. Practitioner Profile: An Interview with Susan Bross, AFC®

    Directory of Open Access Journals (Sweden)

    Susan Bross

    2011-04-01

    Full Text Available

    Susan Bross is a nationally accredited financial counselor who established her private practice in 1992. She currently lives in San Rafael, California. She brings a multi-faceted background and a combination of skills to her work. As a financial counselor, she works with individuals, couples, and entrepreneurs throughout the nation to help clients develop a practical and emotionally healthy relationship with money. When asked, she will tell you that she is passionate about her work because it mirrors her own hard-won path with money. Readers of the Journal will find Ms. Bross’s approach to financial therapy inspiring. She teaches simple tools for effortless and sustainable cash flow and money management. She also guides her clients to balanced attitudes and beliefs about money and success.

  18. [The Durkheim Test. Remarks on Susan Leigh Star's Boundary Objects].

    Science.gov (United States)

    Gießmann, Sebastian

    2015-09-01

    The article reconstructs Susan Leigh Star's conceptual work on the notion of 'boundary objects'. It traces the emergence of the concept, beginning with her PhD thesis and its publication as Regions of the Mind in 1989. 'Boundary objects' attempt to represent the distributed, multifold nature of scientific work and its mediations between different 'social worlds'. Being addressed to several 'communities of practice', the term responded to questions from Distributed Artificial Intelligence in Computer Science, Workplace Studies and Computer Supported Cooperative Work (CSCW), and microhistorical approaches inside the growing Science and Technology Studies. Yet the interdisciplinary character and interpretive flexibility of Star’s invention has rarely been noticed as a conceptual tool for media theory. I therefore propose to reconsider Star's 'Durkheim test' for sociotechnical media practices.

  19. Susan J. Quaal: the global and local impact of a transformational leader.

    Science.gov (United States)

    Finlay, L D

    1998-01-01

    To be a transformational leader in nursing, one must have forever changed the course of our practice. This article highlights the qualities of a great leader, Susan J. Quaal, PhD, APRN, CVS, CCRN. Described are examples of Susan's incredible clinical expertise and also the attributes that make her such a dynamic leader in all domains of the clinical nurse specialist role: Practitioner, educator/mentor, consultant, leader/administrator, and researcher. Interwoven in this article, you will also find the threads of humility and charity that make Susan such an extraordinary human being and a blessing to all the lives she touches.

  20. Textual Rhetorics and Textual Carnivals: Susan Miller and the "Subjects" of Rhetoric and Composition.

    Science.gov (United States)

    Reynolds, Nedra

    1991-01-01

    Reviews two books by Susan Miller: "Rescuing the Subject: A Critical Introduction to Rhetoric and the Writer" (1989) and "Textual Carnivals: The Politics of Composition" (1991). Notes how she rereads dominant histories of rhetoric and writing instruction, argues for a theory of textuality, and illustrates how attention to…

  1. Don't Take Touch for Granted: An Interview with Susan Lederman.

    Science.gov (United States)

    Verry, Rene

    1998-01-01

    Presents an interview with Susan Lederman that contains a fascinating and informative overview of the recent developments in neuropsychological research concerning the sense of touch. Discusses the physiological processes that support this sensory experience and reveals them to be much more flexible, intricate, and adaptive than previously…

  2. Re-Establishing Social Studies as a Core Subject: An Interview with Susan Griffin

    Science.gov (United States)

    Griffin, Susan

    2014-01-01

    NCSS Executive Director Susan Griffin was chair of the Task Force of Professional Organizations that worked with the Social Studies Assessment, Curriculum, and Instruction Collaborative (SSACI) of the Council of Chief State School Officers to initiate and guide the development of the "College, Career and Civic Life (C3) Framework for Social…

  3. Teaching Students About Stereotypes, Prejudice, and Discrimination: An Interview with Susan Fiske

    Science.gov (United States)

    Hackney, Amy

    2005-01-01

    Susan T. Fiske is professor of psychology, Princeton University (PhD, Harvard University; honorary doctorate, Universite Catholique de Louvain-la-Neuve, Belgium). She wrote Social Cognition (with Taylor) on how people make sense of each other. Currently, she investigates emotional prejudices (pity, contempt, envy, and pride) at cultural,…

  4. Inside the Sex Ed Studio: An Interview with Susan N. Wilson

    Science.gov (United States)

    Taverner, William J.

    2007-01-01

    "Inside the Sex Ed Studio" profiles leaders in the field of sexuality education. Susan N. Wilson, former Executive Coordinator of the Network for Family Life Education, long-time advocate for sexuality education, and the driving force behind New Jersey's K-12 mandate for comprehensive sexuality education was the first such leader to be…

  5. Association of rs4552569 and rs17095830 single nucleotide ...

    Indian Academy of Sciences (India)

    lenovo

    Exclusion Criteria .... inflammatory bowel disease in AS patients, but neither rs4552569 nor rs17095830 polymorphism had relationship with ... that there is a lack of relationship between rs4552569 SNP and AS in East Asian population. But there is a.

  6. RS-predictor

    DEFF Research Database (Denmark)

    Zaretzki, Jed; Bergeron, Charles; Rydberg, Patrik

    2011-01-01

    This article describes RegioSelectivity-Predictor (RS-Predictor), a new in silico method for generating predictive models of P450-mediated metabolism for drug-like compounds. Within this method, potential sites of metabolism (SOMs) are represented as "metabolophores": A concept that describes...... shown to reliably identify at least one observed site of metabolism in the top two rank-positions on 78% of the substrates. Comparisons between RS-Predictor and previously described regioselectivity prediction methods reveal new insights into how in silico metabolite prediction methods should...

  7. "A hint of it, with initials": adultery, textuality and publicity in Jane Austen's Lady Susan.

    Science.gov (United States)

    Russell, Gillian

    2010-01-01

    In spite of Jane Austen's professed “eye” for an adulteress, comparatively little attention has been paid to adultery and divorce as themes and contexts of her fiction. Her unpublished epistolary novel Lady Susan has a distinctive status in Austen's oeuvre, recognized as being exemplary of her “style” and yet atypical of her later achievement. A neglected context for the novel is the extensive reporting of adultery trials in contemporary print culture and the moral panic concerning adultery in the 1780s and 1790s, focusing initially on the adulteress as the brazen woman of fashion and later as a figure of sentimentalized abjection. A particularly notorious case, that involving Lady Henrietta Grosvenor and George III's brother, the Duke of Cumberland, is directly alluded to in Lady Susan. The textual strategies of adultery trial literature, particularly its emphasis on indirection through the use of detail or “hint”, had a long-term influence on the development of Austen's fiction and her positioning of herself as a professional writer after the 1790s.

  8. RS-WebPredictor

    DEFF Research Database (Denmark)

    Zaretzki, J.; Bergeron, C.; Huang, T.-W.

    2013-01-01

    Regioselectivity-WebPredictor (RS-WebPredictor) is a server that predicts isozyme-specific cytochrome P450 (CYP)-mediated sites of metabolism (SOMs) on drug-like molecules. Predictions may be made for the promiscuous 2C9, 2D6 and 3A4 CYP isozymes, as well as CYPs 1A2, 2A6, 2B6, 2C8, 2C19 and 2E1...

  9. In the postmodern mirror: intertextuality in Angels and Insects by Antonia Susan Byatt

    Directory of Open Access Journals (Sweden)

    Buda Agata

    2015-05-01

    Full Text Available The aim of the paper is to analyse the novel Angels and Insects by Antonia Susan Byatt in terms of intertextual references. The author’s assumptions are based on the categorisation by Ryszard Nycz, who distinguishes three major types of intertexts: text versus text, text versus literary genre and text versus mimesis. Byatt uses intertextuality mainly to comment on the role of nature in the world, as well as to enhance the importance of human relationship with nature. Moreover, the writer moves towards literary criticism, discussing poems by famous artists, such as Alfred Tennyson or John Milton. In this way, the novel by Byatt is also an example of metafiction. All the narration techniques used by the English writer make the novel a typically postmodern work of art.

  10. Intermittent large amplitude internal waves observed in Port Susan, Puget Sound

    Science.gov (United States)

    Harris, J. C.; Decker, L.

    2017-07-01

    A previously unreported internal tidal bore, which evolves into solitary internal wave packets, was observed in Port Susan, Puget Sound, and the timing, speed, and amplitude of the waves were measured by CTD and visual observation. Acoustic Doppler current profiler (ADCP) measurements were attempted, but unsuccessful. The waves appear to be generated with the ebb flow along the tidal flats of the Stillaguamish River, and the speed and width of the resulting waves can be predicted from second-order KdV theory. Their eventual dissipation may contribute significantly to surface mixing locally, particularly in comparison with the local dissipation due to the tides. Visually the waves appear in fair weather as a strong foam front, which is less visible the farther they propagate.

  11. (REREADING INDEX CARDS: THE ARCHIVIST AS INTERPRETER IN SUSAN PUI SAN LOK'S 'NEWS'

    Directory of Open Access Journals (Sweden)

    Sandra Camacho

    2018-01-01

    Full Text Available Looking at susan pui san lok's projects News (2005 and RoCH (2013, this paper contemplates the notions put forward by Michel-Rolph Trouillot and Jacques Derrida on the power of archivists, not solely as guardians of documents but also as their interpreters. Taking into consideration that photographic and moving image archives present unique difficulties in their cataloguing processes, I examine silences that might be generated by a thematic classification that is not impervious to archivists' biases. Moreover, I consider if the silences created by manual processes of classification and retrieval might be surpassed through digital technologies, or if it is possible that new technologies simply create different types of silencing.

  12. "I Am Not a Fairy Tale": Contextualizing Sioux Spirituality and Story Traditions in Susan Power's "The Grass Dancer"

    Science.gov (United States)

    Diana, Vanessa Holford

    2009-01-01

    Standing Rock Sioux writer Susan Power's best-selling novel "The Grass Dancer" (1994) includes depictions of the supernatural and spiritual that do not conform to the Judeo-Christian or, in some cases, the atheist or rationalist worldviews of many readers. Power writes of ghost characters and haunted places, communication between the living and…

  13. 78 FR 75676 - Mark W. Dobronski and Susan K. Dobronski-Acquisition of Control Exemption-Adrian & Blissfield...

    Science.gov (United States)

    2013-12-12

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF TRANSPORTATION Surface Transportation Board Mark W. Dobronski and Susan K. Dobronski--Acquisition of Control Exemption... Company, Lapeer Industrial Railroad Company and Jackson & Lansing Railroad Company Mark W. Dobronski and...

  14. A Journey, the Pain of Others, and Historical Experience: Susan Silas

    Directory of Open Access Journals (Sweden)

    Sendyka, Roma

    2014-12-01

    Full Text Available The author interprets Susan Silas' Helmbrechts walk (1998-2003, a unique series of forty-five photographs and supplementing visual and textual materials collected during the walk along the route of two hundred and twenty-five miles. The walk repeats the route which in 1945 had to undertake women prisoners from the concentration camp in Helmbrechts near Flossenbürg in their death march to Prachatice in Czech Republic. The pictures Silas takes, the people she meets, and finally the trees, the very materiality of the road become the factors of creating her own, individual memory of the event from the past. Silas selects an object from "the margins of the Holocaust" – a forgotten event that she re-presents by reacting to contemporary objects placed along the route of the event. Silas' work offers an opportunity to critically review the concept of memory landscapes (where is memory located in a landscape? and the phenomenon of dark tourism (is following in the footsteps of the prisoners a kind of pilgrimage, tourism, or therapy?. Silas problematises the question of memory, as well as examines different kinds of non-memory. Her camera is directed at locations that can be termed "the non-sites of memory."

  15. UNDERSTANDİNG SUSAN BORDO AND HER WORK; UNBEARABLE WEİGHT :FEMİNİSM, WESTERN CULTURE, BODY

    Directory of Open Access Journals (Sweden)

    ÇAĞLAR DEMİR

    2017-02-01

    Full Text Available Throughout history of thought, there have been many views about the women, their status in society, their struggle with patriarchy, and inequality  applied to them in all areas. There are different ways of oppression on women, such as confinement to home, inequality in wages between both sexes.  However, few scholars have written and declared their own views about how the patriarchal world and companies form women as they wish. Susan Bordo is one of  the most outstanding and distinguished feminist writers in the world who focuses on  how patriarchal capitalist understanding works on women’s body in terms of weight and weakness. According to Susan Bordo, male dominated capital world decides on women about what to wear and what to eat and women try to lose weight to be in the form men wish. State of  starving all the time leads to an illness called anorexia. The writer bases her views on the thoughts of literary critic and thinker, Foucault. The  objective of this article is to help the readers understand Susan Bordo’s views and analyse her impressive work; Unbearable Weight: Feminism, Western Culture and  the Body  and make her known in academic world.

  16. Bárbara Mujica, ed., Shakespeare and the Spanish «Comedia». Translation, Interpretation, Performance. Essays in Honor of Susan L. Fischer

    Directory of Open Access Journals (Sweden)

    Alejandro García-Reidy

    2016-01-01

    Full Text Available Reseña de Bárbara Mujica, ed., Shakespeare and the Spanish «Comedia». Translation, Interpretation, Performance. Essays in Honor of Susan L. Fischer, Bucknell University Press, Lewisburg, 2013, 298 pp. ISBN 9781611485172.

  17. Podróż, cudze cierpienie i doświadczenie historyczne: Susan Silas

    Directory of Open Access Journals (Sweden)

    Sendyka, Roma

    2014-12-01

    Full Text Available Autorka interpretuje pracę Susan Silas Helmbrechts walk (1998-2003, szczególny cykl czterdziestu pięciu zdjęć i dołączonych do nich materiałów wizualnych oraz tekstowych zbudowany podczas przejścia trasy dwustu dwudziestu pięciu mil, które w 1945 roku musiały przebyć kobiety pędzone w marszu śmierci z Helmbrecht koło Flossenbürga do czeskich Prachatic. Wykonywane zdjęcia, napotykani ludzie, w końcu – drzewa, sama materialność drogi stają się czynnikami wytwarzania własnej, indywidualnej pamięci wydarzenia sprzed lat. Silas wybiera szczególny obiekt "z marginesów Zagłady" – zapomniane zdarzenie, które przedstawia obserwując współczesne obiekty położone wzdłuż trasy tego zdarzenia. Praca Silas pozwala przyjrzeć się krytycznie koncepcji memory landscapes (gdzie w krajobrazie umiejscawia się pamięć? i zjawisku dark tourism (czy podążanie śladami więźniarek to pielgrzymka, turystyka czy terapia?. Silas problematyzuje nie tylko kwestię pamięci, bada również rodzaje nie-pamiętania. Jej kamera zostaje zwrócona ku lokalizacjom, które można nazwać "nie-miejscami pamięci".

  18. Treasure Your Exceptions: An Interview with 2017 George Beadle Award Recipient Susan A. Gerbi.

    Science.gov (United States)

    Gerbi, Susan A

    2017-12-01

    THE Genetics Society of America's (GSA) George W. Beadle Award honors individuals who have made outstanding contributions to the community of genetics researchers and who exemplify the qualities of its namesake. The 2017 recipient is Susan A. Gerbi, who has been a prominent leader and advocate for the scientific community. In the course of her research on DNA replication, Gerbi helped develop the method of Replication Initiation Point (RIP) mapping to map replication origins at the nucleotide level, improving resolution by two orders of magnitude. RIP mapping also provides the basis for the now popular use of λ-exonuclease to enrich nascent DNA to map replication origins genome-wide. Gerbi's second area of research on ribosomal RNA revealed a conserved core secondary structure, as well as conserved nucleotide elements (CNEs). Some CNEs are universally conserved, while other CNEs are conserved in all eukaryotes but not in archaea or bacteria, suggesting a eukaryotic function. Intriguingly, the majority of the eukaryotic-specific CNEs line the tunnel of the large ribosomal subunit through which the nascent polypeptide exits. Gerbi has promoted the fly Sciara coprophila as a model organism ever since she used its enormous polytene chromosomes to help develop the method of in situ hybridization during her Ph.D. research in Joe Gall's laboratory. The Gerbi laboratory maintains the Sciara International Stock Center and manages its future, actively spreading Sciara stocks to other laboratories. Gerbi has also served in many leadership roles, working on issues of science policy, women in science, scientific training, and career preparation. This is an abridged version of the interview. The full interview is available on the Genes to Genomes blog, at genestogenomes.org/gerbi. Copyright © 2017 by the Genetics Society of America.

  19. Susan Magoffin’s Santa Fe Days in 1846: The Value of Testimony Les journées de Santa Fé en 1846 de Susan Magoffin : la valeur du témoignage

    Directory of Open Access Journals (Sweden)

    Susanne Berthier-Foglar

    2009-11-01

    Full Text Available Susan Magoffin, la jeune épouse d’un commerçant de la piste de Santa Fe, accompagna son mari en 1846 pour un voyage où la caravane suivait de près l’Armée de l’Ouest et pendant lequel elle tint un journal. Cet article traite des 37 jours que dura la pause de la caravane à Santa Fe et aborde plus spécifiquement la façon dont l’auteur appréhendait l’altérité dans un environnement inhabituel et parfois dangereux. Pour apprécier la valeur du témoignage, je combine une analyse du discours avec une évaluation statistique du contenu. La description, parfois naïve, de Santa Fe sous l’occupation américaine illustre les raisons de la guerre contre le Mexique. En tant qu’agent de la destinée manifeste, Susan Magoffin admirait le général Kearny en lui attribuant des qualités surhumaines et en participant à ses efforts de propagande. Alors qu’elle était enracinée dans sa classe et sa culture, elle voyait la population mexicaine et les Amérindiens avec un esprit ouvert bien que ses motifs pour apprendre l’espagnol, ainsi que le métier de commerçante, avaient une fonction plus prosaïque.

  20. Associations Between CYP2B6 rs707265, rs1042389, rs2054675, and Hirschsprung Disease in a Chinese Population.

    Science.gov (United States)

    Xu, Chao; Chen, Pingfa; Xie, Hua; Zhu, Hairong; Zhu, Dongmei; Cai, Peng; Huo, Weiwei; Qin, Yufeng; Li, Hongxing; Xia, Yankai; Tang, Weibing

    2015-05-01

    Previous studies suggested that cytochrome P450 participated in the tumor metastasis and migration. CYP2B6 also acts as an important enzyme which metabolize partially or primarily metabolism of drugs, environmental contaminants, and mutagens. The objective of this study was to investigate the influence of CYP2B6 polymorphism on susceptibility of Hirschsprung disease. TaqMan assay was performed to determine the genotypes of CYP2B6 rs707265, rs1042389, rs2054675 in 262 cases and 290 control subjects. Logistic regression was used to assess the associations between these polymorphisms and HSCR. We observed a significant association of CYP2B6 rs707265 (G>A) polymorphism and HSCR susceptibility (p < 0.001). Besides, rs707265 A presented a significant risk of HSCR (p < 0.001). Our result suggested that CYP2B6 rs707265 modified the risk of HSCR.

  1. ‘Speaking Kleinian’: Susan Isaacs as Ursula Wise and the Inter-War Popularisation of Psychoanalysis

    Science.gov (United States)

    Shapira, Michal

    2017-01-01

    How did the complex concepts of psychoanalysis become popular in early twentieth-century Britain? This article examines the contribution of educator and psychoanalyst Susan Isaacs (1885–1948) to this process, as well as her role as a female expert in the intellectual and medical history of this period. Isaacs was one of the most influential British psychologists of the inter-war era, yet historical research on her work is still limited. The article focuses on her writing as ‘Ursula Wise’, answering the questions of parents and nursery nurses in the popular journal Nursery World, from 1929 to 1936. Researched in depth for the first time, Isaacs’ important magazine columns reveal that her writing was instrumental in disseminating the work of psychoanalyst Melanie Klein in Britain. Moreover, Isaacs’ powerful rebuttals to behaviourist, disciplinarian parenting methods helped shift the focus of caregivers to the child’s perspective, encouraging them to acknowledge children as independent subjects and future democratic citizens. Like other early psychoanalysts, Isaacs was not an elitist; she was in fact committed to disseminating her ideas as broadly as possible. Isaacs taught British parents and child caregivers to ‘speak Kleinian’, translating Klein’s intellectual ideas into ordinary language and thus enabling their swift integration into popular discourse. PMID:28901872

  2. (RS-Efonidipine acetone hemisolvate

    Directory of Open Access Journals (Sweden)

    Yu-Heng Liu

    2016-09-01

    Full Text Available The asymmetric unit of the title compound, C34H38N3O7P·0.5C3H6O {systematic name: (RS-2-[phenyl(phenylmethylamino]ethyl 5-(5,5-dimethyl-2-oxo-1,3-dioxa-2λ5-phosphacyclohex-2-yl-2,6-dimethyl-4-(3-nitrophenyl-1,4-dihydropyridine-3-carboxylate acetone hemisolvate}, contains one R-efonidipine molecule, one S-efonidipine molecule and half of a solvate acetone molecule. In both efonidipine molecules, the six-membered rings of the dioxaphosphinanyl moieties display a chair conformation and the dihydropyridine rings display a flattened boat conformation. In the crystal, N—H...O, C—H...O hydrogen bonds and weak C—H...π interactions link the molecules into a three-dimensional supramolecular structure. A solvent-accessible void of 199 Å3 is found in the structure; the contribution of the heavily disordered solvate molecule was suppressed by use of the SQUEEZE routine in PLATON [Spek (2015. Acta Cryst. C71, 9–18].

  3. Diasporic Reconciliations of Politics, Love and Trauma: Susan Abulhawa’s Quest for Identity in Mornings in Jenin

    Directory of Open Access Journals (Sweden)

    Ayman M Abu-Shomar

    2015-04-01

    Full Text Available Negotiating human conditions is an emblematic critical impetus of diaspora informed by multiple cultural possibilities practiced through the creation of multiple spaces that cross the realm of the ‘self’ to that of the ‘other’. It offers a locale to cross from the oppressed ‘self’ to an understanding of an oppressor ‘other’. Yet, diasporic negotiation is politically involved in the most responsible manner; it engages the contextual social realities in order to enable creative possibilities for overcoming the logic of the politics altogether. It invites a kind of political involvement that assures the ‘situatedness of the ethical’ in a framework of moral humanistic realisations. The realisation of diasporic negotiations is dialogically engaged in manners that will give birth to new possibilities for human togetherness. In this essay, I trace the signs of diasporic negotiations of politics, love and trauma in Susan Abulhawa’s Mornings in Jenin by focusing on the Diasporic identity of Amal (the central character. I consider the intersections between diaspora, dislocation of identity and the creation of negotiating spaces that qualify an 'epistemology of Diaspora' against essentialised and ethnocentric construction of realities. I argue that Abulhawa creates diasporic spaces and immense moral scenes to transcend a particular stance of politics via transcending love in opposition to suffering and tribulation. I contend that Abulhawa’s conceptualisation of Diasporic negotiations enables her to depict and gauge two extreme human sentiments: love and trauma, yet, without yielding or compromising the right of just resistance and dissent. Keywords: Diaspora, humanism, Trauma, identity, negotiating difference, and 'Otherness'

  4. Comparison of Vaisala radiosondes RS41 and RS92 at the ARM Southern Great Plains site

    Science.gov (United States)

    Jensen, Michael P.; Holdridge, Donna J.; Survo, Petteri; Lehtinen, Raisa; Baxter, Shannon; Toto, Tami; Johnson, Karen L.

    2016-07-01

    In the fall of 2013, the Vaisala RS41 (fourth generation) radiosonde was introduced as a replacement for the RS92-SGP radiosonde with improvements in measurement accuracy of profiles of atmospheric temperature, humidity, and pressure. In order to help characterize these improvements, an intercomparison campaign was undertaken at the US Department of Energy's Atmospheric Radiation Measurement (ARM) Climate Research Facility site in north-central Oklahoma, USA. During 3-8 June 2014, a total of 20 twin-radiosonde flights were performed in a variety of atmospheric conditions representing typical midlatitude continental summertime conditions. The results show that for most of the observed conditions the RS92 and RS41 measurements agree much better than the manufacturer-specified combined uncertainties with notable exceptions when exiting liquid cloud layers where the "wet-bulbing" effect appears to be mitigated for several cases in the RS41 observations. The RS41 measurements of temperature and humidity, with applied correction algorithms, also appear to show less sensitivity to solar heating. These results suggest that the RS41 does provide important improvements, particularly in cloudy conditions. For many science applications - such as atmospheric process studies, retrieval development, and weather forecasting and climate modeling - the differences between the RS92 and RS41 measurements should have little impact. However, for long-term trend analysis and other climate applications, additional characterization of the RS41 measurements and their relation to the long-term observational records will be required.

  5. Vozvrashtshenije "Ekzorsista" / Susan Howard

    Index Scriptorium Estoniae

    Howard, Susan

    2001-01-01

    William Friedkini 1973.a. valminud õudusfilm "Exorcist", selle järjed ja selle hiljuti restaureeritud ja taas ekraanile paisatud versioon ning nende mõju näitlejanna Linda Blair'i elukäigule, kes filmis mängis saatanast vaevatud teistmelist

  6. Dennis C. Roberts & Susan R. Komives (Eds. (2016. Enhancing Student Learning and Development in Cross-Border Higher Education. San Francisco: Jossey-Bass.

    Directory of Open Access Journals (Sweden)

    Munita Dunn-Coetzee

    2017-07-01

    Full Text Available Enhancing Student Learning and Development in Cross-Border Higher Education, edited by Dennis C. Roberts and Susan R. Komives, is a book that resulted from a short-term study-abroad experience between the Universities of Maryland and San Diego with the Qatar Foundation’s Education City in Doha in 2010. This partnership challenged the way in which higher education internalisation was viewed – in such a way that the visit was replicated in 2012 and this book was authored.

  7. Meta-analysis of polymorphism rs6311 and rs6313 in the 5-HT2AR gene and schizophrenia.

    Science.gov (United States)

    Sun, Li; Xu, Ping; Zhou, Yan-Gang; Zuo, Shan-Ru; Liu, Yi-Ping

    2017-01-01

    rs6311 and rs6313 polymorphism of 5-hydroxytryptamine 2A receptor has been widely studied regarding association with susceptibility to schizophrenia, but the results remained inconsistent. This study aimed to assess the association between rs6311 and rs6313 polymorphism and schizophrenia using a meta-analysis. Pubmed, Web of Science, and Embase databases were searched for all articles linking rs6311 and rs6313 polymorphism and schizophrenia. All studies which met the inclusion and exclusion criteria were included in this meta-analysis. Pooled odds ratio and 95% confidence intervals were used to evaluate the association between rs6311 and rs6313 polymorphism and schizophrenia risk. Sub-group analysis was also performed by different ethnic studies (Asian and Caucasian) and different minor allelic studies (rs6311: minor allele = A and minor allele = G; rs6313: minor allele = T and minor allele = C). Forty articles, including 50 case-control studies, were included in this meta-analysis. Specifically, 12 studies with 4100 cases and 4541 controls involved rs6311, 38 studies with 8960 cases and 9729 controls involved rs6313. The results showed that rs6311 and rs6313 were not associated with schizophrenia. Moreover, no associations were found between rs6311 and schizophrenia in different sub-groups, rs6313 was found to associated with schizophrenia among studies in which C is the minor allele. This meta-analysis indicates that rs6311 and rs6313 polymorphisms of 5-HT2AR are not associated with schizophrenia. However, the rs6313 polymorphism is associated with schizophrenia in studies in which the minor allele is C.

  8. Association of IL-23R Polymorphisms (rs6682925, rs10889677, rs1884444) With Cancer Risk: A PRISMA-Compliant Meta-Analysis.

    Science.gov (United States)

    Liu, Xing-Han; Dai, Zhi-Ming; Kang, Hua-Feng; Lin, Shuai; Ma, Xiao-Bin; Wang, Meng; Liu, Kang; Dai, Cong; Wang, Xi-Jing; Dai, Zhi-Jun

    2015-12-01

    Although interleukin (IL)-23 receptor (IL-23R) plays an important role in the pathogenesis of multiple cancers, its association with cancer risk is inconsistent across different studies. We therefore conducted a meta-analysis with the aim of resolving the relationship among the 3 common polymorphisms of IL-23R (rs6682925, rs10889677, rs1884444) and cancer risk.Case-control studies evaluating the association between IL-23R polymorphisms (rs6682925, rs10889677, rs1884444) and cancer risk were searched in the PubMed, Web of Science, and CNKI databases.Data were included in the meta-analysis if they were from original studies adopting a case-control design investigating the association between IL-23R polymorphisms and risk of any cancer; all cancer cases must have been confirmed by histology or pathology, and controls selected from noncancer individuals. Case-only studies and review papers were excluded.Odds ratios (ORs) and 95% confidence intervals (CIs) were used to evaluate the relationship of IL-23R polymorphisms (rs6682925, rs10889677, rs1884444) with cancer risk. A random-effects model or fixed-effects model was used depending on the heterogeneity of the data.Ultimately, 15 studies, involving 8784 cancer patients and 10,321 cancer-free controls, were included in our meta-analysis. In the overall analysis, the rs10889677 polymorphism was associated with breast cancer (BC) under the allelic, homozygous, dominant, and heterozygous models. Rs1884444 polymorphism was relevant to hepatocellular carcinoma (HCC) under the homozygous, recessive, and allelic models. However, no evidence of a relationship between IL-23R polymorphisms (rs6682925, rs10889677, rs1884444) and cancer risk was found in the overall population.Our meta-analysis provides no evidence supporting a global association of IL-23R polymorphisms (rs6682925, rs10889677, rs1884444) with the risk of cancer. However, rs10889677 may be associated with BC susceptibility and rs1884444 had association with HCC risk

  9. Roadkill of wild mammals on RS-135

    Directory of Open Access Journals (Sweden)

    Carla Grasiele Zanin Hegel

    2012-06-01

    Full Text Available Among environmental impacts, fragmentation of habitat for agriculture and livestock has led to a distortion of the natural environment and increased rates of wildlife killed on roads. Weekly surveys of road-killed mammals were made along highway RS-135 (km 8-34 between May 2008 and May 2010. For each case, we recorded the species and location along the road. We collected 95 mammals belonging to 16 species and 12 families, with a frequency of 0.025 roadkills per kilometer. The most abundant species were Cerdocyon thous (22.11%, Nasua nasua (10.52%, Pseudalopex gymnocercus (9.47% and Cavia aperea (7.37%, which together comprised 49.5% of the cases. This study contributed with information on roadkill of wild mammals in RS-135 of Rio Grande do Sul.

  10. Soft-decision decoding of RS codes

    DEFF Research Database (Denmark)

    Justesen, Jørn

    2005-01-01

    By introducing a few simplifying assumptions we derive a simple condition for successful decoding using the Koetter-Vardy algorithm for soft-decision decoding of RS codes. We show that the algorithm has a significant advantage over hard decision decoding when the code rate is low, when two or more...... sets of received symbols have substantially different reliabilities, or when the number of alternative transmitted symbols is very small...

  11. Associations between Rs4244285 and Rs762551 gene polymorphisms and age-related macular degeneration.

    Science.gov (United States)

    Stasiukonyte, Neringa; Liutkeviciene, Rasa; Vilkeviciute, Alvita; Banevicius, Mantas; Kriauciuniene, Loresa

    2017-01-01

    Age-related macular degeneration is the leading cause of blindness in elderly individuals in developed countries. The etiology and pathophysiology of age-related macular degeneration have not been elucidated yet. Knowing that the main pathological change of age-related macular degeneration is formation of drusen containing about 40% of lipids, there have been attempts to find associations between age-related macular degeneration and genes controlling lipid metabolism. To determine the frequency of CYP2C19 (G681A) Rs4244285 and CYP1A2 (-163C>A) Rs762551 genotypes in patients with age-related macular degeneration. The study enrolled 150 patients with early age-related macular degeneration and 296 age- and gender-matched healthy controls. The genotyping of Rs4244285 and Rs762551 was carried out by using the real-time polymerase chain reaction method. The CYP1A2 (-163C>A) Rs762551 C/C genotype was more frequently detected in patients with age-related macular degeneration than in the control group (32.7% vs. 21.6%, p = 0.011) and was associated with an increased risk of developing early age-related macular degeneration (OR = 1.759, 95% CI: 1.133-2.729; p = 0.012). The CYP1A2 (-163C>A) Rs762551 C/A genotype was more frequently documented in the control group compared with patients with age-related macular degeneration (46.3% vs. 30.7%, p = 0.002) and was associated with a decreased risk of having age-related macular degeneration (OR = 0.580. 95% CI: 0.362-0.929, p = 0.023) in the co-dominant model. The study showed that the CYP1A2 (-163C>A) Rs762551 C/C genotype was associated with an increased risk of age-related macular degeneration.

  12. OPN gene polymorphisms, rs17524488 GG/G, rs11730582 T/C, and rs9138 C/A, and cancer risk in a Chinese population.

    Science.gov (United States)

    Mi, Yuanyuan; Ren, Kewei; Dai, Feng; Zhu, Lijie; Feng, Ninghan

    2015-09-15

    Previous studies have investigated the association between osteopontin (OPN) gene polymorphisms, rs17524488 (-156 GG/G), rs11730582 (-443 T/C), and rs9138 (C/A) and cancer risk in the Chinese population. However, the results are controversial and indefinite. We therefore carried out a meta-analysis to derive a more precise estimation of these associations. The PubMed database was systematically searched to identify potentially eligible reports. Crude odds ratios (OR) and 95% confidence intervals (CI) were used to assess the strength of associations between 3 OPN gene polymorphisms and cancer risk in a Chinese population. A total of 10 articles involving 2,391 cases and 3,007 controls were evaluated. The pooled OR indicated that OPN rs17524488 (-156 GG/G) polymorphism was significantly associated with cancer risk in Chinese population. In a stratified analysis by source of control, significant associations were also observed among rs17524488 (-156 GG/G) and rs11730582 (-443 T/C) polymorphisms and cancer. In addition, a stronger association was observed between rs9138 (C/A) polymorphism and cancer risk. In conclusion, this meta-analysis suggests that OPN rs17524488 (-156 GG/G), rs11730582 (-443 T/C), and rs9138 (C/A) polymorphisms may be associated with cancer susceptibility in the Chinese population. Nevertheless, further investigation on a larger population covering different ethnicities are warranted.

  13. SMIM1 variants rs1175550 and rs143702418 independently modulate Vel blood group antigen expression

    Science.gov (United States)

    Christophersen, Mikael K.; Jöud, Magnus; Ajore, Ram; Vege, Sunitha; Ljungdahl, Klara W.; Westhoff, Connie M.; Olsson, Martin L.; Storry, Jill R.; Nilsson, Björn

    2017-01-01

    The Vel blood group antigen is expressed on the red blood cells of most individuals. Recently, we described that homozygosity for inactivating mutations in SMIM1 defines the rare Vel-negative phenotype. Still, Vel-positive individuals show great variability in Vel antigen expression, creating a risk for Vel blood typing errors and transfusion reactions. We fine-mapped the regulatory region located in SMIM1 intron 2 in Swedish blood donors, and observed a strong correlation between expression and rs1175550 as well as with a previously unreported tri-nucleotide insertion (rs143702418; C > CGCA). While the two variants are tightly linked in Caucasians, we separated their effects in African Americans, and found that rs1175550G and to a lesser extent rs143702418C independently increase SMIM1 and Vel antigen expression. Gel shift and luciferase assays indicate that both variants are transcriptionally active, and we identified binding of the transcription factor TAL1 as a potential mediator of the increased expression associated with rs1175550G. Our results provide insight into the regulatory logic of Vel antigen expression, and extend the set of markers for genetic Vel blood group typing. PMID:28084402

  14. Mass and Reliability System (MaRS)

    Science.gov (United States)

    Barnes, Sarah

    2016-01-01

    The Safety and Mission Assurance (S&MA) Directorate is responsible for mitigating risk, providing system safety, and lowering risk for space programs from ground to space. The S&MA is divided into 4 divisions: The Space Exploration Division (NC), the International Space Station Division (NE), the Safety & Test Operations Division (NS), and the Quality and Flight Equipment Division (NT). The interns, myself and Arun Aruljothi, will be working with the Risk & Reliability Analysis Branch under the NC Division's. The mission of this division is to identify, characterize, diminish, and communicate risk by implementing an efficient and effective assurance model. The team utilizes Reliability and Maintainability (R&M) and Probabilistic Risk Assessment (PRA) to ensure decisions concerning risks are informed, vehicles are safe and reliable, and program/project requirements are realistic and realized. This project pertains to the Orion mission, so it is geared toward a long duration Human Space Flight Program(s). For space missions, payload is a critical concept; balancing what hardware can be replaced by components verse by Orbital Replacement Units (ORU) or subassemblies is key. For this effort a database was created that combines mass and reliability data, called Mass and Reliability System or MaRS. The U.S. International Space Station (ISS) components are used as reference parts in the MaRS database. Using ISS components as a platform is beneficial because of the historical context and the environment similarities to a space flight mission. MaRS uses a combination of systems: International Space Station PART for failure data, Vehicle Master Database (VMDB) for ORU & components, Maintenance & Analysis Data Set (MADS) for operation hours and other pertinent data, & Hardware History Retrieval System (HHRS) for unit weights. MaRS is populated using a Visual Basic Application. Once populated, the excel spreadsheet is comprised of information on ISS components including

  15. Lack of association between rheumatoid arthritis and genetic variants rs10889677, rs11209026 and rs2201841 of IL-23R gene.

    Science.gov (United States)

    Paradowska-Gorycka, Agnieszka; Malinowski, Damian; Haladyj, Ewa; Olesinska, Marzena; Safranow, Krzysztof; Pawlik, Andrzej

    2018-01-19

    Rheumatoid arthritis (RA) is an autoimmune diseases, where different genetic variants in cytokine genes may play a pathogenic role. A GWAS in autoimmune diseases highlighted the IL-23R gene as a one of the susceptibility factors. We examined three candidate single nucleotide polymorphisms (SNPs) rs10889677, rs11209026 and rs2201841 of the IL-23R gene, as well as determined their possible association with RA in a Polish population. The IL-23R gene polymorphisms were genotyped for 422 RA patients and 348 healthy individuals using TaqMan SNP genotyping assay. The genotypes frequency did not deviate from HWE in each examined group. A comparison of the allele as well as genotype frequencies of the IL-23R polymorphisms under codominant, dominant and recessive genetic model revealed no significant differences between RA patients and healthy subjects. We also demonstrated that IL-23R rs2201841 and rs11209026 as well as rs11209026 and rs10889677 were in complete linkage disequilibrium (D'=1.0). Our genotype-phenotype analysis demonstrated that in carriers of rs10889677C and/or rs2201841A allele the RF, extra-articular manifestations and erosion were more frequent present than in patients with rs10889677A and/or rs2201841A allele, although this association was not significant. Present findings indicated that the autoimmune disease-associated genetic variants in IL-23R gene are not associated with RA in the Polish population. Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

  16. RS CVn type star PZ Tel

    Energy Technology Data Exchange (ETDEWEB)

    Innis, J.L.; Coates, D.W.; Thompson, K.

    1984-01-01

    Broadband photoelectric light curves for the RS CVn type star PZ Telescopium are presented. The photometric period is about 0.943 days. The V light curve shows radical changes in form and range over a few months and may be continuously variable. In 1982 no (B-V) change with phase was detected. However, in the first part of the 1983 observing season a change of around 0.02 magnitude was found. Also at this time, maximum light was some 0.05 magnitude above that measured previously. Preliminary spectroscopic data indicate that P2 Tel is a double lined binary whose components are of approximately equal luminosities. It is suggested that the photometric variations are due to the presence of large cooler starspots on the photosphere of one or both components.

  17. Characterization of RsMYB28 and RsMYB29 transcription factor genes in radish (Raphanus sativus L.).

    Science.gov (United States)

    Luo, X B; Liu, Z; Xu, L; Wang, Y; Zhu, X W; Zhang, W; Chen, W; Zhu, Y L; Su, X J; Everlyne, M; Liu, L W

    2016-09-23

    Glucosinolates (GSLs) are important secondary metabolites in Brassicaceae plants. Previous studies have mainly focused on GSL contents, types, and biosynthesis-related genes, but the molecular characterization patterns of GSL biosynthesis-related transcription factors remain largely unexplored in radish (Raphanus sativus L.). To isolate transcription factor genes regulating the GSL biosynthesis, genomic DNA and cDNA sequences of RsMYB28 and RsMYB29 genes were isolated in radish. Two R2R3-MYB domains were identified in the deduced amino acid sequences. Subcellular localization and yeast-one hybrid assays indicated that both the RsMYB28 and RsMYB29 genes were located in the nucleus and possessed transactivation activity. Reverse transcription quantitative analysis showed that the RsMYB28 and RsMYB29 genes were expressed in seeds, leaves, stems, and roots at the seedling, taproot thickening, and mature stages. Both genes were highly expressed during the seedling and taproot thickening stages. The expression level of RsMYB28 was found to be up-regulated following wounding, glucose, and abscisic acid treatments, whereas RsMYB29 was up-regulated following wounding and methyl jasmonate treatments. These results provide insights into the biological function and characterization of the RsMYB28 and RsMYB29 genes, and facilitate further dissection of the molecular regulatory mechanism underlying the GSL biosynthesis in radish.

  18. Comparison of Vaisala radiosondes RS41 and RS92 launched over the oceans from the Arctic to the tropics

    Science.gov (United States)

    Kawai, Yoshimi; Katsumata, Masaki; Oshima, Kazuhiro; Hori, Masatake E.; Inoue, Jun

    2017-07-01

    To assess the differences between the RS92 radiosonde and its improved counterpart, the Vaisala RS41-SGP radiosonde version with a pressure sensor, 36 twin-radiosonde launches were made over the Arctic Ocean, Bering Sea, western North Pacific Ocean, and the tropical Indian Ocean during two cruises of R/V Mirai in 2015. The biases, standard deviations, and root mean squares (rms's) of the differences between the RS41 and RS92 data over all flights and altitudes were smaller than the nominal combined uncertainties of the RS41, except that the rms of the differences of pressure above 100 exceeded 0.6 hPa. A comparison between daytime and nighttime flights in the tropics revealed that the pressure difference was systematically larger during the day than at night above an altitude of 4.5 km, suggesting that there was some effect of solar heating on the pressure measurements, but the exact reason is unclear. The agreement between the RS41 and RS92 temperature measurements was better than the combined uncertainties. However, there were some noteworthy discrepancies presumably caused by the wet-bulbing effect on the RS92 radiosonde and the stagnation of the balloon. Although the median of the relative humidity differences was only a little more than 2 % of the relative humidity at all altitudes, the relative humidity of the RS92 was much lower than that of the RS41 at altitudes of about 17 km in the tropics. This dry bias might have been caused by the incomplete solar radiation correction of the RS92, and a correction table for the daytime RS92 humidity was calculated. This study showed that the RS41 measurements were consistent with the specifications of the manufacturer in most cases over both the tropical and polar oceans. However, further studies on the causes of the discrepancies are needed.

  19. Genetic Variants of VEGF (rs201963 and rs3025039) and KDR (rs7667298, rs2305948, and rs1870377) Are Associated with Glioma Risk in a Han Chinese Population: a Case-Control Study.

    Science.gov (United States)

    Zhang, Jiannan; Yang, Jian; Chen, Yuqing; Mao, Qin; Li, Shanquan; Xiong, Wenhao; Lin, Yingying; Chen, Jie; Ge, Jianwei

    2016-05-01

    A glioma is the most common type of brain tumor that accounts for nearly 80 % of brain cancers. Vascular endothelial growth factor (VEGF) and its receptor, the kinase insert domain receptor (KDR), are involved in the angiogenesis of cancers. In this study, we investigate whether the polymorphisms of VEGF and KDR are associated with a glioma risk. Blood samples were collected from 477 glioma patients and 477 healthy controls. Five tag-single nucleotide polymorphisms (SNPs) of KDR were obtained from the HapMap database, and eight tag-SNPs of VEGF were selected based on previous studies. After extraction of genomic DNAs by a Qiagen DNA blood kit, the SNPs of VEGF and KDR were genotyped with a Sequenom MassArray iPLEX platform and further analyzed with matrix-assisted laser desorption ionization time-of-flight (MALDI-TOF) mass spectrometry. The odds ratios and their 95% confidence interval (95% CI) were used to assess the association between VEGF, KDR polymorphisms, and glioma risks with the aid of SPSS 13.0 software. The haplotype analysis demonstrated that two SNPs of VEGF [rs3025039 (C>T), rs2010963 (G>C)] could elevate the susceptibility to a glioma in the homozygous model [odds ratio (OR) = 3.13 (95% confidence interval (CI) 1.30-7.49, P = 0.007) and OR = 1.58 (95% CI 1.07-2.34, P = 0.022), respectively], dominant model [OR = 1.38 (95% CI 1.04-1.84, P = 0.025) and OR = 1.32 (95% CI 1.01-1.72, P = 0.043), respectively], and allelic model [OR = 1.43 (95% CI 1.11-1.84, P = 0.005) and OR = 1.24 (95% CI 1.04-1.50, P = 0.019), respectively]. Furthermore, three SNPs of KDR [rs7667298 (A>G), rs2305948 (C>T), rs1870377 (T>A)] were also assumed to be associated with an increased risk of a glioma in the homozygous [OR = 1.93 (95% CI 1.30-2.86, P = 0.001), OR = 2.56 (95% CI 1.28-5.11, P = 0.006), and OR = 1.52 (95% CI 1.00-2.31, P = 0.049), respectively], dominant [OR = 1.52 (95% CI 1.16-1.98, P = 0.002), OR = 1.41 (95% CI 1.05-1.87, P = 0.020), and OR = 1.48 (95% CI 1

  20. RS485 Image Sensor for Digital Cinema System

    OpenAIRE

    Eunju Kim; Seokhoon Kang; Sangsoon Lee

    2016-01-01

    To activate various devices using RS485, a repeater is generally used. In current digital cinema systems, each device is controlled with RS485 by mixing RS485 and DMX512. However, as today’s cinema equips hundreds of 4D chairs and the environmental directors, it is nearly infeasible for the legacy system to control. To this end, this paper designs and implements a new system which makes hundreds of 4D chairs and the environmental directors be controlled simultaneously exploiting RS485 network...

  1. Interleukin-1Ra rs2234663 and Interleukin-4 rs79071878 Polymorphisms in Familial Mediterranean Fever.

    Science.gov (United States)

    Nursal, Ayse Feyda; Tekcan, Akin; Kaya, Suheyla Uzun; Sezer, Ozlem; Yigit, Serbulent

    2016-05-15

    Familial Mediterranean Fever (FMF) is an autosomal recessively inherited auto inflammatory disorder. MEFV gene, causing FMF, encodes pyrin that is associated with the interleukin-1 (IL-1) related inflammation cascade. The aim of this study was to investigate the relationship of interleukin-1 receptor antagonist (IL-1Ra) and interleukin-4 (IL-4) polymorphisms with the risk of FMF in the Turkish population. This study included 160 patients with FMF (74 men, 86 women) and 120 healthy controls (50 men, 70 women), respectively. Genotyping of IL-1Ra rs2234663 polymorphism was evaluated by gel electrophoresis after polymerase chain reaction (PCR). The IL-4 rs79071878 polymorphism was determined by PCR-based restriction fragment length polymorphism (PCR-RFLP) analysis. The results of analyses were evaluated for statistical significance. There was no significant difference in IL-1Ra genotype and allele distributions between FMF and the control groups (p>0.05). However, a significant association was observed between FMF patients and control groups according to IL-4 genotype distribution (p=0.016), but no association was found in the allelic frequency of IL-4 between FMF patients and the controls (p>0.05, OR: 1.131, CI 95%: 0.71-1.81). The IL-4 rs79071878 polymorphism, was associated whereas the IL-1Ra rs2234663 polymorphism was not associated with FMF risk in the Turkish population. Larger studies with different ethnicities are needed to determine the impact of IL-1Ra and IL-4 polymorphism on the risk of developing FMF. Copyright © 2016 Elsevier B.V. All rights reserved.

  2. ( pear cu (SSR) m ultivar marke rs and rs are select effect tions ive for r

    African Journals Online (AJOL)

    SAM

    ck of improv itable mater here can be s. mportant spec yrus serotina e Creative Com al of Biote effect tions sende³ and. UNESP Jabo. MG, Brazil. hern region re collected extracted fro rs (NH001c,. NH017a, KA alyzed by ex l coordinate used were ef. 6 was notew efolia by its ustering, form x and the tivars from ved strains.

  3. USB and RS232 voltage datalogger

    Directory of Open Access Journals (Sweden)

    Lorenzo Hernández Tabares

    2011-01-01

    Full Text Available Normal 0 21 false false false MicrosoftInternetExplorer4 st1:*{behavior:url(#ieooui } /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Tabla normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-parent:""; mso-padding-alt:0cm 5.4pt 0cm 5.4pt; mso-para-margin:0cm; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:10.0pt; font-family:"Times New Roman"; mso-ansi-language:#0400; mso-fareast-language:#0400; mso-bidi-language:#0400;} The design and construction of a PIC microcontroller based datalogger with USB 2.0 and RS232 interfaces is presented. The datalogger has one 0 to +10VDC analogue input, 10bits ADC, Real Time Clock, 4k sample room on the microcontroller’s program flash memory and an external DC power supply. This paper proposes a cheap variant to construct such device widely used in meteorological and environmental instrumentation among others. The prototype was attached to an Ultraviolet Photometric O3 Analyzer for recording the environmental (tropospheric ozone concentration in a control station at the Havana city. Key words: datalogger, USB, enviromental ozone

  4. Insect nicotinic acetylcholine receptors (nAChRs): Important amino ...

    African Journals Online (AJOL)

    Nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels which mediate fast cholinergic synaptic transmission in insect and vertebrate nervous systems. The great abundance of nAChRs within the insect central nervous system has led to the development of insecticides targeting these receptors, such as ...

  5. Apelin rs2235306 polymorphism is not related to metabolic ...

    African Journals Online (AJOL)

    Background: Apelin is an adipokine that was identified to play a role in the control of glucose homeostasis. Apelin rs2235306 gene polymorphism was linked to insulin resistance and poor glycemic control. Aim of the study: To assess the relation of apelin rs2235306 polymorphism with metabolic syndrome and its ...

  6. "If you thought this story sour, sweeten it with your own telling" - a feminist poetics of rewriting in Susan Price's Ghost dance

    Directory of Open Access Journals (Sweden)

    Sanna Lehtonen

    2010-01-01

    Full Text Available The attempts to challenge conventional gendered discourses in children's fantasy have often resulted in feminist rewritings of earlier stories. Ghost dance (1994 by the English author Susan Price is a novel that reflects a specific feminist poetics of rewriting: metafictional passages highlight the constructedness of the narrative and at the end readers are invited to tell their own versions of the story. Moreover, the rewriting freely combines and recontextualises elements from different source texts and reformulates them to create a narrative that challenges conventional discourses of gender. While this poetics has an appeal from a feminist perspective, the play with cross-cultural intertexts and gender becomes more complex when the novel is examined in a postcolonialist framework in relation to ethnicity and the issue of cultural appropriation. Ghost dance is situated in a setting that has a real-world equivalent (Russia, involves characters that are identified with names of real-world ethnic groups (Lapps (Sámi, Russian, and mixes elements from Russian wonder tales, Nordic mythology and an Ojibwe legend. The novel does not aim at historical accuracy in its representations nor is it a direct retelling of any of the pre-texts but combines motifs, themes, names, characters and settings freely from each source. In this textual melting pot, the protagonist Shingebiss is, on one level, a revision of the witch Baba Yaga, but also described as a Lappish shaman with an Ojibwe name. To rewrite gendered discourses, certain elements from the pretexts are chosen and others left out – the question is, then, what effects does this recontextualisation have on the representation of ethnicity? Or, are the feminist rewriting strategies actually a form of cultural appropriation?

  7. Polymorphisms in Four Genes (KCNQ1 rs151290, KLF14 rs972283, GCKR rs780094 and MTNR1B rs10830963) and Their Correlation with Type 2 Diabetes Mellitus in Han Chinese in Henan Province, China.

    Science.gov (United States)

    Gao, Kaiping; Wang, Jinjin; Li, Linlin; Zhai, Yujia; Ren, Yongcheng; You, Haifei; Wang, Bingyuan; Wu, Xuli; Li, Jianna; Liu, Zichen; Li, Xiong; Huang, Yaxin; Luo, Xin-Ping; Hu, Dongsheng; Ohno, Kinji; Wang, Chongjian

    2016-02-26

    Genetic variants at KCNQ1 rs151290, KLF14 rs972283, GCKR rs780094 and MTNR1B rs10830963 have been associated with type 2 diabetes mellitus (T2DM), but the results are contradictory in Chinese populations. The aim of the present study was to investigate the association of these four SNPs with T2DM in a large population of Han Chinese at Henan province, China. Seven-hundred-thirty-six patients with T2DM (cases) and Seven-hundred-sixty-eight healthy glucose-tolerant controls were genotyped for KCNQ1 rs151290, KLF14 rs972283, GCKR rs780094 and MTNR1B rs10830963. The association of genetic variants in these four genes with T2DM was analyzed using multivariate logistic regression. Genotypes and allele distributions of KCNQ1 rs151290 were significantly different between the cases and controls (p KCNQ1 were associated with increases risk of T2DM before (OR = 1.482, 95% CI = 1.062-2.069; p = 0.021; OR = 1.544, 95% CI = 1.097-2.172, p = 0.013; and OR = 1.509, 95% CI = 1.097-2.077, p = 0.011, respectively) and after (OR = 1.539, 95% CI = 1.015-2.332, p = 0.042; OR = 1.641, 95% CI = 1.070-2.516, p = 0.023; and OR = 1.582, 95% CI = 1.061-2.358, p = 0.024; respectively) adjustment for sex, age, anthropometric measurements, biochemical indexes, smoking and alcohol consumption. Consistent with results of genotype analysis, the C allele of rs151290 in KCNQ1 was also associated with increased risk of T2DM (OR = 1.166, 95% CI = 1.004-1.355, p = 0.045). No associations between genetic variants of KLF14 rs972283, GCKR rs780094 or MTNR1B rs10830963 and T2DM were detected. The AC and CC genotypes and the C allele of rs151290 in KCNQ1 may be risk factors for T2DM in Han Chinese in Henan province.

  8. RS485 Image Sensor for Digital Cinema System

    Directory of Open Access Journals (Sweden)

    Eunju Kim

    2016-01-01

    Full Text Available To activate various devices using RS485, a repeater is generally used. In current digital cinema systems, each device is controlled with RS485 by mixing RS485 and DMX512. However, as today’s cinema equips hundreds of 4D chairs and the environmental directors, it is nearly infeasible for the legacy system to control. To this end, this paper designs and implements a new system which makes hundreds of 4D chairs and the environmental directors be controlled simultaneously exploiting RS485 network topology and its repeaters. The proposed approach is tested in a real-time system for assessing the performance by Paessler Router Traffic Grapher (PRTG in Windows environment. Simulation results show that the tested system supports 4D chairs and their motions are well operated simultaneously with RS485.

  9. The 3Rs principle – mind the ethical gap!

    DEFF Research Database (Denmark)

    Olsson, I. Anna S.; Franco, Nuno H.; Weary, Daniel M.

    2012-01-01

    Over the 50 years since they were first proposed, the 3Rs (Replacement, Reduction, Refinement) have made a tremendous impact. These principles seem to unify concerns for better science with causing less harm to animals. The ideas behind the 3Rs are so intuitively compelling that it is tempting...... to believe that full implementation is merely a matter of time, and once the 3Rs are widely implemented, the public will fully support any continued laboratory animal use that is deemed necessary. In this paper, we argue that these conclusions are unlikely to be correct, in part because the 3Rs are rich.......e., switching from a “higher” to a “lower” species)? Which of the 3Rs should receive priority? Until now, some scholars have focused on identifying Replacements for the use of live animal experiments in research, while others have focused on Reduction in the number of animals used and Refinements in procedures...

  10. Association of rs2294008 and rs9297976 Polymorphisms in PSCA Gene with Gastric Cancer Susceptibility in Uzbekistan

    Directory of Open Access Journals (Sweden)

    Shahlo Turdikulova

    2016-12-01

    Conclusion: Our findings support that PSCA rs2294008 and rs9297976 polymorphism may contribute to the susceptibility to gastric cancer. Genotyping of these polymorphisms can potentially be recommended as one of the criteria for identification of high risk groups for gastric cancer development in Uzbekistan.

  11. Investigation of CD40 gene rs4810485 and rs1883832 mutations in patients with recurrent aphthous stomatitis.

    Science.gov (United States)

    Yigit, Serbulent; Tekcan, Akin; Rustemoglu, Aydin; Tumer, Mehmet Kemal; Kalkan, Goknur; Yerliyurt, Kaan

    2017-02-01

    Recurrent aphthous stomatitis (RAS) is a common painful disorder affecting oral health, mucosa and overall quality of life. The etiopathogenesis of RAS remains unclear. RAS shows a large genetic diversity among the patients. In present study, we investigated whether CD40 gene rs4810485 and rs1883832 are associated with RAS and its clinical findings in Turkish patients. Genomic DNA obtained from 387 individuals (160 patients with RAS and 227 healthy controls) were used in the study. CD40 gene rs4810485 and rs1883832 mutations were determined by using polymerase chain reaction with the specific primers. There was no statistically significant difference between the groups with respect to genotype and allele distribution (p>0.05, OR 0.94, 95% CI 0.70-1.28, OR 1.01 95% CI 0.75-1.37, respectively). Additionally, there was no statistically significant difference in the combined genotype analysis of CD40 gene rs4810485 and rs1883832 mutations (p>0.05). According to our results, we found that CD40 gene mutations are not associated with RAS. We are convinced that CD40 gene mutations do not predispose to develop RAS in Turkish population. To our knowledge, this is the first study regarding CD40 gene rs4810485 and rs1883832 mutations investigated in RAS patients. Copyright © 2016 Elsevier Ltd. All rights reserved.

  12. GAK rs1564282 and DGKQ rs11248060 increase the risk for Parkinson's disease in a Chinese population.

    Science.gov (United States)

    Chen, Yong Ping; Song, Wei; Huang, Rui; Chen, Ke; Zhao, Bi; Li, Jianpeng; Yang, Yuan; Shang, Hui-Fang

    2013-06-01

    Numerous single-nucleotide polymorphisms (SNPs) such as GAK rs1564282 and DGKQ rs11248060 have been reported to be associated with the risk of Parkinson's disease (PD) in Caucasian populations. However, this association is yet to be proven in the Chinese population. This study included 376 unrelated Han Chinese PD patients from Southwest China and 277 unrelated Chinese healthy controls from the same region. Two SNPs, namely, rs1564282 and rs11248060, were genotyped using Sequenom's iPLEX assay. The allele frequencies and genotype distributions of the SNPs in the PD patients and controls were compared using Fisher's exact test. Significant differences were found in the genotype distributions and allele frequencies for DGKQ rs11248060 between PD patients and controls (p = 0.0425 and p = 0.0308, respectively). Significant differences were also observed in the allele frequencies for GAK rs1564282 between PD patients and controls. No significant differences were observed in the genotype frequencies, minor allele frequency, and minor allele carrier frequencies between early-onset PD (EOPD) and controls, between late-onset PD (LOPD) and controls, and between EOPD and LOPD after conservative Bonferroni adjustment. GAK rs1564282 and DGKQ rs11248060 increase the risk for PD in Chinese patients. More related studies with a larger number of participants are needed to confirm these findings. Copyright © 2012 Elsevier Ltd. All rights reserved.

  13. Association of Choline Acetyltransferase Gene Polymorphisms (SNPs rs868750G/A, rs1880676G/A, rs2177369G/A and rs3810950G/A with Alzheimer's Disease Risk: A Meta-Analysis.

    Directory of Open Access Journals (Sweden)

    Hai Yuan

    Full Text Available Epidemiological studies have investigated the role of choline acetyltransferase (ChAT in Alzheimer's disease (AD. ChAT gene polymorphisms (SNPs rs868750G/A, rs1880676G/A, rs2177369G/A, and rs3810950G/A may be associated with the risk of AD. In this meta-analysis, we determined the relationship between the four polymorphisms and the risk of AD.We searched MEDLINE, EMBASE, and HuGEnet databases for studies linking the four polymorphisms with AD risk. We included 16 articles in our meta-analysis to assess the association between the four polymorphisms and susceptibility to AD by calculating the pooled odds ratios (ORs and 95% confidence intervals (CIs.The combined results showed no significant association with rs1880676G/A and rs2177369G/A polymorphisms. The risk of AD (GG+GA versus AA: OR = 0.01, 95%CI = 0.01-0.02, P < 0.05; GG versus GA+AA: OR = 0.85, 95%CI = 0.72-1.00, P = 0.05; GA versus AA: OR = 0.60, 95% CI = 0.37-0.98, P = 0.04 with rs868750G/A polymorphism, or the association of rs3810950G/A polymorphism with AD risk in the overall population (GA versus AA: OR = 0.64, 95% CI = 0.44-0.93, P = 0.02; GG+GA versus AA: OR = 0.62, 95% CI = 0.39-0.97, P = 0.04 or Asian group (GA versus AA: OR = 0.50, 95% CI = 0.32-0.76, P = 0.001, and GG+GA versus AA: OR = 0.46, 95% CI = 0.30-0.09, P = 0.0002 was demonstrated.Our meta-analysis suggested that rs1880670G/A, and rs2177369 G/A polymorphisms were not risk factors for AD. However, rs3810950G/A, or rs868750G/A genetic polymorphism was a genetic risk factor for the development of AD. The rs3810950G/A polymorphism had a negative effect on the risk of AD for GA or GG+GA genotypes compared with AA in the overall population or Asians.

  14. Association between rs267196 and rs267201 of BMP6 gene and osteonecrosis among sickle cell aneamia patients.

    Science.gov (United States)

    Chaouch, Leila; Kalai, Miniar; Jbara, Manel Ben; Chaabene, Arij Ben; Darragi, Imen; Chaouachi, Dorra; Mallouli, Fethi; Hafsia, Raouf; Ghanem, Abderraouf; Abbes, Salem

    2015-03-01

    The skeletal manifestations of sickle cell disease are the result of changes in bone and bone marrow caused by chronic tissue hypoxia that is exacerbated by episodic occlusion of the microcirculation by the abnormal sickle cells. Furthermore, the occurrence of osteonecrosis is under the control of some modifier gene. BMP6 (Bone morphogenetic protein) has been reported as associated with osteonecrosis in sickle cell anemia (SCA). Herein, we intend to study the impact of rs267196, rs267201, rs408505 and rs449853 of BMP6 gene in the occurrence of osteonecrosis among sickle cell patients in Tunisia. Our study involved 100 SCA patients among whom 19 have osteonecrosis of the head of the femur. The latter polymorphisms of BMP6 gene were analyzed for all subjects by PCR/sequencing. To test for trait association with the candidate SNPs, genotype and allele frequencies between cases (osteonecrosis group) and controls (non-osteonecrosis group) were compared using Pearson's chi_square test with a significance threshold of P<0.05 (compare 2, version 1.02). Our findings showed that the patients carried genotype TA of rs 267196 and genotype AG of rs267201 present a high risk factor for developing osteonecrosis RR=1.317 and RR=1.3 respectively. The results showed a significant association between the alleles A of rs 267196 and G of rs267201 and osteonecrosis P=0.0023; RR=2.42 and P=0.041; RR=2.24 respectively. Interestingly, SCA patients with the combined genotype TA/AG were found to be at higher risk of developing osteonecrosis (P=0.009). As for rs408505 and rs449853 of BMP6 gene no significant association was found among SCA patients.

  15. Idufirma Silicon Valleyta / Susan Adams

    Index Scriptorium Estoniae

    Adams, Susan

    2014-01-01

    Tarkvarafirma Apprenda toodab teenindusplatvormi tarkvara, mis võimaldab klientidel luua ja hoida käigus uusi mobiilseid ja pilvetehnoloogiapõhiseid rakendusi. Oma töötajatele pakub odavaid elamispindu ja madalaid makse

  16. The association of vaspin rs2236242 and leptin rs7799039 polymorphism with metabolic syndrome in Egyptian women.

    Science.gov (United States)

    Alnory, Amina; Gad, Hoda; Hegazy, Gehan; Shaker, Olfat

    2016-11-17

    Genetic predisposition is implicated in the etiology of metabolic syndrome. This study aimed to investigate the1397645907association of vaspin rs2236242 and leptin rs7799039 polymorphisms with their serum levels and with the risk of developing metabolic syndrome in Egyptian women. This case control study included 100 Egyptian women with metabolic syndrome and 100 without metabolic syndrome. The genotypes of vaspin rs2236242 and leptin rs7799039 were detected by a methodology based on PCR-RFLP. Serum vaspin and leptin levels were determined by ELISA. The metabolic syndrome group was associated with higher serum vaspin and leptin levels when compared to the nonmetabolic syndrome group. The AA genotype of leptin rs7799039 was associated with metabolic syndrome and with higher serum leptin levels, while the different genotypes of vaspin rs2236242 were not associated with metabolic syndrome or different serum vaspin levels. The AA genotype of leptin rs7799039 was associated with metabolic syndrome and higher serum leptin levels. Serum leptin and vaspin can be used as diagnostic markers of metabolic syndrome.

  17. GLIS3 rs7020673 and rs10758593 polymorphisms interact in the susceptibility for type 1 diabetes mellitus.

    Science.gov (United States)

    Duarte, Guilherme C K; Assmann, Tais S; Dieter, Cristine; de Souza, Bianca M; Crispim, Daisy

    2017-06-09

    The transcription factor Gli-similar 3 (GLIS3) plays a key role in the development and maintenance of pancreatic beta cells as well as in the regulation of Insulin gene expression in adults. Accordingly, genome-wide association studies identified GLIS3 as a susceptibility locus for type 1 diabetes mellitus (T1DM) and glucose metabolism traits. Therefore, the aim of this study was to replicate the association of the rs10758593 and rs7020673 single nucleotide polymorphisms (SNPs) in the GLIS3 gene with T1DM in a Brazilian population. Frequencies of the rs7020673 (G/C) and rs10758593 (A/G) SNPs were analyzed in 503 T1DM patients (cases) and in 442 non-diabetic subjects (controls). Haplotypes constructed from the combination of these SNPs were inferred using a Bayesian statistical method. Genotype and allele frequencies of rs7020673 and rs10758593 SNPs did not differ significantly between case and control groups. However, the frequency of ≥3 minor alleles of the analyzed SNPs in haplotypes was higher in T1DM patients compared to non-diabetic subjects (6.2 vs. 1.6%; P = 0.001). The presence of ≥3 minor alleles remained independently associated with risk of T1DM after adjustment for T1DM high-risk HLA DR/DQ haplotypes, age and ethnicity (OR = 3.684 95% CI 1.220-11.124). Moreover, levels of glycated hemoglobin seem to be higher in T1DM patients with rs10758593 A/A genotype than patients carrying the G allele of this SNP (P = 0.038), although this association was not kept after Bonferroni correction. Our results indicate that individually the rs7020673 and rs10758593 SNPs are not significantly associated with T1DM but seem to interact in the predisposition for this disease.

  18. Blending the most fundamental Remote-Sensing principles (RS ...

    African Journals Online (AJOL)

    Blending the most fundamental Remote-Sensing principles (RS) with the most functional spatial knowledge (GIS) with the objective of the determination of the accident-prone palms and points (case study: Tehran-Hamadan Highway on Saveh Superhighway)

  19. What kind of animal is the "Three Rs"?

    Science.gov (United States)

    Hobson-West, Pru

    2009-12-01

    Fifty years after the publication of The Principles of Humane Experimental Technique by Russell and Burch, this paper explores the contemporary role of the Three Rs. This is illustrated by reference to a recent social scientific study, which involved a total of 50 in-depth interviews with scientists who use animals and with other stakeholders in the debate. The data analysis shows how the Three Rs are conceptualised in at least three ways: firstly, as an ethical animal, either as a shorthand for a moral imperative, or as a route to managing an ethical dilemma; secondly, as a scientific animal, internal to the scientific method; and finally, as a political animal, with some stakeholders referring to the Three Rs as a way to promote consensus in a controversial domain. Pushing the metaphor a little further, the paper concludes that the Three Rs concept has become a kind of hybrid animal. 2009 FRAME.

  20. Multirate Filter Bank Representations of RS and BCH Codes

    Directory of Open Access Journals (Sweden)

    Van Meerbergen Geert

    2008-01-01

    Full Text Available Abstract This paper addresses the use of multirate filter banks in the context of error-correction coding. An in-depth study of these filter banks is presented, motivated by earlier results and applications based on the filter bank representation of Reed-Solomon (RS codes, such as Soft-In Soft-Out RS-decoding or RS-OFDM. The specific structure of the filter banks (critical subsampling is an important aspect in these applications. The goal of the paper is twofold. First, the filter bank representation of RS codes is now explained based on polynomial descriptions. This approach allows us to gain new insight in the correspondence between RS codes and filter banks. More specifically, it allows us to show that the inherent periodically time-varying character of a critically subsampled filter bank matches remarkably well with the cyclic properties of RS codes. Secondly, an extension of these techniques toward the more general class of BCH codes is presented. It is demonstrated that a BCH code can be decomposed into a sum of critically subsampled filter banks.

  1. Multirate Filter Bank Representations of RS and BCH Codes

    Directory of Open Access Journals (Sweden)

    Marc Moonen

    2009-01-01

    Full Text Available This paper addresses the use of multirate filter banks in the context of error-correction coding. An in-depth study of these filter banks is presented, motivated by earlier results and applications based on the filter bank representation of Reed-Solomon (RS codes, such as Soft-In Soft-Out RS-decoding or RS-OFDM. The specific structure of the filter banks (critical subsampling is an important aspect in these applications. The goal of the paper is twofold. First, the filter bank representation of RS codes is now explained based on polynomial descriptions. This approach allows us to gain new insight in the correspondence between RS codes and filter banks. More specifically, it allows us to show that the inherent periodically time-varying character of a critically subsampled filter bank matches remarkably well with the cyclic properties of RS codes. Secondly, an extension of these techniques toward the more general class of BCH codes is presented. It is demonstrated that a BCH code can be decomposed into a sum of critically subsampled filter banks.

  2. Important miRs of pathways in different tumor types.

    Science.gov (United States)

    Wuchty, Stefan; Arjona, Dolores; Bauer, Peter O

    2013-01-01

    We computationally determined miRs that are significantly connected to molecular pathways by utilizing gene expression profiles in different cancer types such as glioblastomas, ovarian and breast cancers. Specifically, we assumed that the knowledge of physical interactions between miRs and genes indicated subsets of important miRs (IM) that significantly contributed to the regression of pathway-specific enrichment scores. Despite the different nature of the considered cancer types, we found strongly overlapping sets of IMs. Furthermore, IMs that were important for many pathways were enriched with literature-curated cancer and differentially expressed miRs. Such sets of IMs also coincided well with clusters of miRs that were experimentally indicated in numerous other cancer types. In particular, we focused on an overlapping set of 99 overall important miRs (OIM) that were found in glioblastomas, ovarian and breast cancers simultaneously. Notably, we observed that interactions between OIMs and leading edge genes of differentially expressed pathways were characterized by considerable changes in their expression correlations. Such gains/losses of miR and gene expression correlation indicated miR/gene pairs that may play a causal role in the underlying cancers.

  3. Correlation of rs6756667 and rs7583392 polymorphism of EPAS1 with high altitude polycythemia in male Han population

    Directory of Open Access Journals (Sweden)

    Yu CHEN

    2012-12-01

    Full Text Available Objective  To investigate the correlation between rs6756667 and rs7583392 polymorphism of endothelial Per-Arnt-Sim domain protein 1(EPAS1 and high altitude polycythemia(HAPC in male Han population. Methods  A total of 318 individuals with HAPC and 316 male individuals without HAPC (controls of Han population were enrolled in this study, and genotypes of rs6756667 and rs7583392 were identified by polymerase chain reaction-high resolution melting analysis method. Polymorphism data of this study were compared with that collected from Han males in Beijing in the International HapMap Project database and Tibetan population from previous literature. Results  Genotypes of AA, AG and GG were found in rs6756667 and rs7583392 polymorphism. The frequencies of the three genotypes of rs6756667 in HAPC group and control group were 1.9%, 16.0%, 82.1% and 3.2%, 22.8%, 74.0%, respectively. The distribution of genotypes showed significant difference between HAPC group and control group (P=0.049, with frequency of GG genotype in HAPC group was markedly higher than that of control group (P=0.025. The frequencies of A allele and G allele were significantly different between HAPC group and control group (P=0.011, OR=0.645,95%CI=0.459~0.908. The frequencies of the three genotypes of rs7583392 in HAPC group and control group were 77.7%, 18.6%, 3.7% and 69.0%, 24.0%, 7.0%, respectively, while the frequency distribution of rs7583392 did not match the Hardy-Weinberg equilibrium test. Compared with Han Chinese in Beijing, there was no significant difference in frequency distribution of genotypes or alleles of rs6756667 polymorphism in this study, while statistically significant significance was found as compared with Tibetan population as found from previous literature(χ2=76.133, P<0.0001. Conclusion  Polymorphism of rs6756667 in EPAS1 is associated with the occurrence of HAPC in male Han population, the A allele may be a protective factor against HAPC, while the

  4. Rs7206790 and rs11644943 in FTO Gene Are Associated with Risk of Obesity in Chinese School-Age Population

    OpenAIRE

    Xu, Yuyang; Ling, Jie; Yang, Min; Wang, Hao; Zhang, Shuai; Zhang, Xuhui; Zhu, Yimin

    2014-01-01

    To evaluate the associations between candidate FTO single nucleotide polymorphisms (SNPs) and obesity, a case-control study was conducted among Chinese school-age children, which included 500 obese cases and 500 matched controls (age, gender and location). We selected 24 candidate FTO tag-SNPs via bio-informatics analysis and performed genotyping using SNPScan technology. Results indicated that rs7206790 and rs11644943 were significantly associated with obesity among school-age children in bo...

  5. UGT1A1 gene linkage analysis: application of polymorphic markers rs4148326/rs4124874 in the Iranian population

    Directory of Open Access Journals (Sweden)

    Zakiye Nadeali

    2017-08-01

    Full Text Available Objective(s: Mutations in the UGT1A1 gene are responsible for hyperbilirubinemia syndromes including Crigler-Najjar type 1 and 2 and Gilbert syndrome. In view of the genetic heterogeneity and involvement of large numbers of the disease causing mutations, the application of polymorphic markers in the UGTA1 gene could be useful in molecular diagnosis of the disease. Materials and Methods: In the present study, two polymorphic markers including rs4148326 and rs4124874 in the UGT1A1 gene region were characterized. The markers were selected using bioinformatics analysis of the UGT1A1 gene region and genotyped in 212 unrelated healthy individuals and 13 family trios in the Iranian population using Tetra-Primer ARMS PCR technique. The allele frequency and population status of the alleles were estimated using GENEPOP, FBAT, PowerMarker and Arlequin software. Results: The results indicated that in the case of rs4148326 marker, allele frequency for T and C allele was 66.04% and 33.96%, respectively. For rs4124874 marker, allele frequency for G and T alleles was 39.4% and 60.6%, respectively. The values of heterozygosity index for the markers examined were 64.1 for rs4148326 and 72.1 for rs4124874, respectively. The haplotype estimation analysis of the markers resulted in three informative haplotypes with frequencies ≥0.05. Moreover, the results suggested the presence of linkage disequilibrium between two markers. Conclusion: Altogether, the data suggested that rs4148326 and rs4124874 could be introduced as informative markers for molecular diagnosis of Crigler-Najjar type 1 and 2 and Gilbert syndrome in the Iranian population.

  6. [Association of surfactant protein D gene polymorphisms at rs3088308 and rs721917 with susceptibility to silicosis].

    Science.gov (United States)

    Wu, Chuan-Wen; Zhang, Xiu-Feng; Liu, Wei; Wang, Hong-Li; Hao, Xiao-Hui; Guo, Zhi-Yi; Guo, Ling-Li; Liu, He-Liang

    2016-06-20

    To investigate the relationship between polymorphisms of surfactant protein D (rs3088308 and rs721917) and the susceptibility to silicosis. This case-control study included 125 silicosis patients and 125 individuals exposed to industrial dust but without silicosis (control group), who were strictly matched with the case group for age, gender, work type and cumulative length of dust exposure. The rs3088308 and rs721917 polymorphisms of surfactant protein-D were detected in all the participants using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The frequencies of T/T, T/A and A/A genotypes of surfactant protein-D rs3088308 locus were 22.2%, 71.2% and 5.6% in the case group, significantly different from the frequencies of 17.6%, 58.4% and 24.0% in the control group, respectively (P0.05). Surfactant protein-D rs3088308 polymorphism is significantly associated with silicosis, and the T allele may be a risk factor for silicosis in individuals exposed to industrial dust.

  7. Association between IL-1α rs17561 and IL-1β rs1143634 polymorphisms and periodontitis: a meta-analysis.

    Science.gov (United States)

    Yin, W T; Pan, Y P; Lin, L

    2016-02-05

    Genetic variations in human interleukin-1 (IL-1) genes are known to be involved in inflammatory disorders. The rs17561 and rs1143634 polymorphisms of IL-1α and IL-1β, respectively, have been increasingly recognized as important regulators in the development of periodontitis. However, the existence of a specific association remains controversial. Therefore, we performed a meta-analysis to explore the relationship between IL-1 polymorphism and periodontitis risk. Based on our inclusion criteria, six case-control studies were used, involving a total of 336 periodontitis cases and 366 healthy controls. Our meta-analysis results showed that the T allele of IL-1α rs17561 is positively associated with periodontitis susceptibility. In addition, carriers of this allele (TC + TT genotypes) demonstrated increased risk of this disease. The IL-1β rs1143634 T allele was also positively connected to periodontitis, with TC + TT genotype carriers being significantly more at risk. These results demonstrate that the IL-1α rs17561 and IL-1β rs1143634 polymorphisms are associated with periodontitis.

  8. Genetic Association of CHAT rs3810950 and rs2177369 Polymorphisms with the Risk of Alzheimer's Disease: A Meta-Analysis.

    Science.gov (United States)

    Liu, Yong; Chen, Qicong; Liu, Xu; Dou, Mengmeng; Li, Silu; Zhou, Jiahui; Liu, Hong; Wu, Yongfu; Huang, Zunnan

    2016-01-01

    Choline acetyltransferase (CHAT) rs3810950 and rs2177369 polymorphisms have been implicated in susceptibility to Alzheimer's disease (AD). Due to the inconsistent results from previous studies, a meta-analysis was performed to estimate the association between these polymorphisms and AD risk more precisely. Pooled results of our meta-analysis indicated CHAT rs2177369 polymorphism was correlated with decreasing AD risk in one of five genetic models (dominant: OR = 0.77, 95% CI: 0.62-0.96), while rs3810950 mutant was associated with AD development in three models (allelic: OR = 1.18, 95% CI: 1.01-1.37, homozygous: OR = 1.63, 95% CI: 1.09-2.42, and recessive: OR = 1.65, 95% CI: 1.20-2.26). In subgroup analysis by ethnicity, the association between CHAT rs3810950 polymorphism and AD risk was just found in the recessive model (OR = 1.47, 95% CI: 1.05-2.07) among Caucasians, while four genetic models (allelic: OR = 1.23, 95% CI: 1.01-1.48; homozygous: OR = 2.24, 95% CI: 1.48-3.39; dominant: OR = 1.21, 95% CI: 1.06-1.40; and recessive: OR = 2.18, 95% CI: 1.45-3.29) assumed this association in Asians. In conclusion, our meta-analysis indicated CHAT rs2177369 polymorphism might play a protective role in AD, while rs3810950 variant was a risk factor for AD but its single heterozygous mutations might not influence susceptibility to AD.

  9. Codificador RS(n,k basado en LFCS: caso de estudio RS(7,3

    Directory of Open Access Journals (Sweden)

    Cecilia Sandoval-Ruiz

    2012-01-01

    Full Text Available El presente artículo presenta el diseño de un codi® cador Reed Solomon basado en un circuito concurrente, LFCS - Linear Feedback Concurrent Structure- que permite la generación de los símbolos de redundancia del código de forma paralela, siempre que se le suministren los k símbolos de información a codificar de forma simultánea, el codifi cador ofrece a su salida los símbolos de redundancia correspondientes. Para lograr este desarrollo se generalizó el modelo matemáticos para la descripción del comportamiento del codificador, se realizó la configuración en lenguaje descriptor de hardware VHDL de un codificador Reed Solomon, tomando como caso de estudio el RS(7,3, se simuló el diseño propuesto validando así su funcionamiento, para finalmente realizar la comparación de la implementación del codifi cador entre la versión secuencial y la versión basada en LFCS, obteniendo una reducción de componentes hardware y optimizando la velocidad de respuesta y consumo de potencia. Concluyendo, que el diseño del codi® cador propuesto valida el modelo concurrente generalizado a partir de la correspondencia con la arquitectura del LFCS.

  10. Gaussian Mixture Model and Rjmcmc Based RS Image Segmentation

    Science.gov (United States)

    Shi, X.; Zhao, Q. H.

    2017-09-01

    For the image segmentation method based on Gaussian Mixture Model (GMM), there are some problems: 1) The number of component was usually a fixed number, i.e., fixed class and 2) GMM is sensitive to image noise. This paper proposed a RS image segmentation method that combining GMM with reversible jump Markov Chain Monte Carlo (RJMCMC). In proposed algorithm, GMM was designed to model the distribution of pixel intensity in RS image. Assume that the number of component was a random variable. Respectively build the prior distribution of each parameter. In order to improve noise resistance, used Gibbs function to model the prior distribution of GMM weight coefficient. According to Bayes' theorem, build posterior distribution. RJMCMC was used to simulate the posterior distribution and estimate its parameters. Finally, an optimal segmentation is obtained on RS image. Experimental results show that the proposed algorithm can converge to the optimal number of class and get an ideal segmentation results.

  11. GAUSSIAN MIXTURE MODEL AND RJMCMC BASED RS IMAGE SEGMENTATION

    Directory of Open Access Journals (Sweden)

    X. Shi

    2017-09-01

    Full Text Available For the image segmentation method based on Gaussian Mixture Model (GMM, there are some problems: 1 The number of component was usually a fixed number, i.e., fixed class and 2 GMM is sensitive to image noise. This paper proposed a RS image segmentation method that combining GMM with reversible jump Markov Chain Monte Carlo (RJMCMC. In proposed algorithm, GMM was designed to model the distribution of pixel intensity in RS image. Assume that the number of component was a random variable. Respectively build the prior distribution of each parameter. In order to improve noise resistance, used Gibbs function to model the prior distribution of GMM weight coefficient. According to Bayes' theorem, build posterior distribution. RJMCMC was used to simulate the posterior distribution and estimate its parameters. Finally, an optimal segmentation is obtained on RS image. Experimental results show that the proposed algorithm can converge to the optimal number of class and get an ideal segmentation results.

  12. Association of single-nucleotide polymorphisms, rs2235371 and rs2013162, in the IRF6 gene with non-syndromic cleft palate in northeast China.

    Science.gov (United States)

    Xu, W; Han, W T; Lu, Y P; Feng, W H; Dai, M

    2016-09-02

    The aim of this study was to determine the association between two SNPs (rs2235371 and rs2013162) in the interferon regulatory factor 6 (IRF6) gene and non-syndromic cleft palate (NSCP) in northeast China. We genotyped these two SNPs in 104 NSCP cases, as well as in 178 parents and 300 controls. Case-control and case-parent analyses were performed using χ2 tests and family-based association tests (FBAT). Results indicated that there were significant differences in both genotypic and allelic distributions between patients and controls at rs2235371 and rs2013162 in the IRF6 gene. Case-parent analysis revealed over-transmission of the C allele in rs2235371 and the A allele in rs2013162. Lastly, FBAT showed over-transmission of the CA haplotype. This study demonstrated that the two SNPs, rs2235371 and rs2013162, are strongly associated with NSCP in the northeast Chinese population.

  13. THE HISTORY OF LABORATORY ANIMALS AND THE 3RS

    DEFF Research Database (Denmark)

    Alstrup, Aage Kristian Olsen

    This talk will give an introduction to the history of the use of laboratory animals with focus on the history of the three Rs (3Rs). We will see how animal experimentation has been performed early in our civilization, and how the suffering of animals has been justified. This will include Rene...... of laboratory animal welfare. Two years later two English scientists, zoologist William W.S. Russell and micro-biologist, Rex L. Burch prepared a report on the ethical aspects of using laboratory animals. In 1959 (hundred years after Charles Darwin’s “The Origin of Species”) they published the book: “The...

  14. Association of variants in BAFF (rs9514828 and rs1041569) and BAFF-R (rs61756766) genes with the risk of chronic lymphocytic leukemia.

    Science.gov (United States)

    Jasek, Monika; Bojarska-Junak, Agnieszka; Wagner, Marta; Sobczyński, Maciej; Wołowiec, Dariusz; Roliński, Jacek; Karabon, Lidia; Kuśnierczyk, Piotr

    2016-10-01

    The B-cell activator factor (BAFF)/BAFF receptor (BAFF-R) axis seems to play an important role in the development and progression of chronic lymphocytic leukemia (CLL). Here, we investigated the association of eight single nucleotide polymorphisms (SNPs) in the BAFF (TNFSF13B) and BAFF-R (TNFRSF13C) genes with risk of sporadic CLL in a group of 439 CLL patients and 477 controls. We also examined the correlation between selected SNPs and CLL clinical parameters as well as BAFF plasma levels and intracellular BAFF expression. Our results point to a possible association between the rs9514828 (CT vs. CC + TT; OR = 0.74; CI 95 % = 0.57; 0.97; p = 0.022) and rs1041569 (AT vs. AA + TT; OR = 0.72; CI 95 % = 0.54; 0.95; p = 0.021) of BAFF gene and rs61756766 (CC vs. CT; OR = 2.03; CI 95 % = 1.03; 3.99; p = 0.03) of BAFF-R gene and CLL risk. Additionally, we observed that homozygotes rs1041569 AA and TT had a slightly higher risk (HR = 1.12) for the need of treatment in comparison to AT heterozygotes. In conclusion, our results indicate that SNPs in BAFF and BAFF-R genes may be considered as potential CLL risk factors.

  15. Validation of Omron RS8, RS6, and RS3 home blood pressure monitoring devices, in accordance with the European Society of Hypertension International Protocol revision 2010

    Directory of Open Access Journals (Sweden)

    Takahashi H

    2013-05-01

    Full Text Available Hakuo Takahashi, Masamichi Yoshika, Toyohiko YokoiDepartment of Clinical Sciences and Laboratory Medicine, Kansai Medical University, Hirakata, Osaka, JapanBackground: Allowing patients to measure their blood pressure at home is recognized as being of clinical value. However, it is not known how often these measurements are taken correctly. Blood pressure monitors for home use fall into two types based on the position of the cuff, ie, at the upper arm or the wrist. The latter is particularly convenient, as measurements can be taken fully clothed. This study aimed to evaluate the performance of the wrist-type blood pressure monitors Omron RS8 (HEM-6310F-E, Omron RS6 (HEM-6221-E, and Omron RS3 (HEM-6130-E.Methods: A team of three trained doctors validated the performance of these devices by comparing the measurements obtained from these devices with those taken using a standard mercury sphygmomanometer. All the devices met the validation requirements of the European Society of Hypertension International Protocol revision 2010.Results: The difference in blood pressure readings between the tested device and the standard mercury sphygmomanometer was within 3 mmHg, which is acceptable according to the European Society of Hypertension guidelines.Conclusion: All the home devices tested were found to be suitable for measuring blood pressure at home because their performance fulfilled the requirement of the guidelines.Keywords: blood pressure, device, European Society of Hypertension, guideline, measurement, validation

  16. Association of rs2294008 and rs9297976 Polymorphisms in PSCA Gene with Gastric Cancer Susceptibility in Uzbekistan.

    Science.gov (United States)

    Turdikulova, Shahlo; Dalimova, Dilbar; Abdurakhimov, Abror; Adilov, Bekzod; Navruzov, Sarimbek; Yusupbekov, Abror; Djuraev, Mirjalol; Abdujapparov, Suleyman; Egamberdiev, Dilshod; Mukhamedov, Rustam

    2016-01-01

    Genetic factors play an important role in the development of gastric cancer (GC), a prevalent malignancy in Central Asia. Recent studies have shown that single-nucleotide polymorphisms (SNPs) in several genes are associated with increased GC risk, indicating that genetic variation contributes to gastric carcinogenesis. Located on chromosome 8q24.2, the prostate stem cell antigen (PSCA) gene encodes a 123-amino acid glycoprotein related to the cell-proliferation inhibition and cell-death induction activity. SNPs in PSCA gene have been found to be associated with gastric cancer risk in a genome-wide association study, but results were not conclusive. This study aimed to investigate the association between two polymorphic variants of PSCA gene (rs2294008 and rs9297976) and the susceptibility to gastric cancer in Uzbekistan. Two hundred sixty eight patients with gastric cancer and a control group of 248 healthy individuals were included in this study. DNA samples isolated from these groups were genotyped using PCR-RFLP method. Comparative analysis of resulting genotypes showed a statistically significant association between CT genotype and gastric cancer (p=0.03, additive model of inheritance, Cochran-Armitage trend test). Comparative analysis of the distribution of genotypes of rs2976392 polymorphism did not show a statistically significant difference; however, analysis of the distribution of the rs2976392 genotypes in a subgroup of young women revealed a statistically significant (p = 0.04, additive model of inheritance, Cochran-Armitage trend test) increase in the incidence of AA (38%) and AG (56%) genotypes in patients with GC, compared to the controls (20% and 40%). Our findings support that PSCA rs2294008 and rs9297976 polymorphism may contribute to the susceptibility to gastric cancer. Genotyping of these polymorphisms can potentially be recommended as one of the criteria for identification of high risk groups for gastric cancer development in Uzbekistan.

  17. Rs7206790 and rs11644943 in FTO gene are associated with risk of obesity in Chinese school-age population.

    Science.gov (United States)

    Xu, Yuyang; Ling, Jie; Yang, Min; Wang, Hao; Zhang, Shuai; Zhang, Xuhui; Zhu, Yimin

    2014-01-01

    To evaluate the associations between candidate FTO single nucleotide polymorphisms (SNPs) and obesity, a case-control study was conducted among Chinese school-age children, which included 500 obese cases and 500 matched controls (age, gender and location). We selected 24 candidate FTO tag-SNPs via bio-informatics analysis and performed genotyping using SNPScan technology. Results indicated that rs7206790 and rs11644943 were significantly associated with obesity among school-age children in both additive and recessive models (Pschool-age children.

  18. Association of the matrix metalloproteinase-3 polymorphisms rs679620 and rs3025058 with ischemic stroke risk: a meta-analysis

    Directory of Open Access Journals (Sweden)

    Zhang Q

    2018-01-01

    Full Text Available Qi-Wei Zhang Department of Neurosurgery, The Affiliated Hospital of Jilin Medical University, Jilin, People’s Republic of China Purpose: The relationship of the matrix metalloproteinase-3 (MMP-3 polymorphisms rs679620 and rs3025058 with ischemic stroke has received much attention. The aim of the present study was to perform a meta-analysis of published case–control studies to evaluate the cumulative evidence.Methods: We performed a search of ISI Web of Science, Embase, PubMed, and China National Knowledge Infrastructure databases. Pooled odds ratios (ORs were appropriately derived from fixed-effects or random-effects models.Results: We identified seven eligible studies including 5,204 subjects. The pooled analysis showed that the MMP-3 rs679620 A allele carriers had increased risk of ischemic stroke compared with homozygotes for the G allele in Asians (AA + GA vs GG: OR =1.42, 95% CI: 1.05–1.91, P=0.022. Concerning the rs3025058 polymorphism, the results did not suggest an association between rs3025058 genotypes and ischemic stroke risk (5A5A + 6A5A vs 6A6A: OR =1.04, 95% CI: 0.73–1.47, P=0.844; 5A5A vs 6A5A + 6A6A: OR =1.14, 95% CI: 0.74–1.77, P=0.556; and 5A5A vs 6A6A: OR =1.11, 95% CI: 0.68–1.80, P=0.677. In subgroup analysis by ethnicity, no statistically significant associations were demonstrated for rs3025058 in Asians and Caucasians, respectively. There was no evidence for publication bias.Conclusion: Our findings indicate that the rs679620 A allele carriers have increased risk of ischemic stroke in Asians, but there is no association between rs3025058 and ischemic stroke risk. Keywords: ischemic stroke, meta-analysis, MMP-3, polymorphism

  19. Distinct role of CD86 polymorphisms (rs1129055, rs17281995 in risk of cancer: evidence from a meta-analysis.

    Directory of Open Access Journals (Sweden)

    Peiliang Geng

    Full Text Available BACKGROUND AND PURPOSE: Previous studies concerning the role of CD86 polymorphisms (rs1129055 and rs17281995 in cancer fail to provide compelling evidence. The aim of this study was to investigate the role of common polymorphisms in the risk of cancer by meta-analysis. METHODS: By using the search terms Cluster of Differentiation 86/CD86/B7-2/polymorphism/polymorphisms/cancer, we searched PubMed, Embase, CNKI, and Wanfang and identified four studies for rs1129055 (2137 subjects and rs17281995 (2856 subjects respectively. Cancer risk was estimated by odds ratio (OR and 95% confidence interval (95% CI. MAJOR FINDINGS: Overall, we observed significant reduced risk of cancer in relation to rs1129055. Compared with the individuals with AA genotype, the individuals with GG genotype appeared to have 62% decreased risk to develop cancer (GG versus AA: OR, 0.62; 95% CI, 0.49-0.79; P(het., 0.996. Similar effects were indicated in the G versus A allele model and the GG versus GA+AA genetic model (OR, 0.83; 95% CI, 0.74-0.93; P(het., 0.987; OR, 0.63; 95% CI, 0.50-0.79; P(het., 0.973. In addition, we found genotypes of rs17281995 had a major effect on overall cancer risk (CC versus GG: OR, 2.38; 95% CI, 1.43-3.95; P(het., 0.433; C versus G: OR, 1.23; 95% CI, 1.06-1.43; P(het., 0.521; CC versus GC+GG: OR, 2.38; 95% CI, 1.45-3.93; P(het., 0.443. The association was also observed in Caucasians and colorectal cancer. No obvious publication bias was detected in this meta-analysis. CONCLUSIONS: These data reveal that rs1129055 may have protective effects on cancer risk in Asians and that rs17281995 is likely to contribute to risk of cancer, particularly colorectal cancer in Caucasians.

  20. Insect nicotinic acetylcholine receptors (nAChRs): Important amino ...

    African Journals Online (AJOL)

    STORAGESEVER

    2008-12-29

    Dec 29, 2008 ... neonicotinoid insecticides affinity remarkably, but showed little effects on insect nAChRs normal function. Key words: Nicotinic acetylcholine receptor, neonicotinoid insecticides, selectivity, resistance. INTRODUCTION. Most commercially important insecticides are neurotoxins that act on ion channels, ...

  1. HypoxamiRs : Regulators of cardiac hypoxia and energy metabolism

    NARCIS (Netherlands)

    Azzouzi, Hamid el; Leptidis, Stefanos; Doevendans, Pieter A.; De Windt, Leon J.

    2015-01-01

    Hypoxia and its intricate regulation are at the epicenter of cardiovascular research. Mediated by hypoxia-inducible factors as well as by several microRNAs, recently termed 'hypoxamiRs', hypoxia affects several cardiac pathophysiological processes. Hypoxia is the driving force behind the regulation

  2. 7q21-rs6964587 and breast cancer risk

    DEFF Research Database (Denmark)

    Milne, Roger L; Lorenzo-Bermejo, Justo; Burwinkel, Barbara

    2011-01-01

    Using the Breast Cancer Association Consortium, the authors previously reported that the single nucleotide polymorphism 7q21-rs6964587 (AKAP9-M463I) is associated with breast cancer risk. The authors have now assessed this association more comprehensively using 16 independent case-control studies....

  3. Work in Progress: The Seven Rs of Team Building

    Science.gov (United States)

    Brunelli, Jean; Schneider, Elaine Fogel

    2004-01-01

    This article argues that supportive teams--including professionals, paraprofessionals, and parents--can teach staff members how to identify and implement best practices in early intervention settings. The authors describe "the seven Rs of team building" distilled from their many years of team building and maintenance: 1) Reading cues; 2) Regular…

  4. Associations of polymorphisms in the cytokine genes IL1β (rs16944), IL6 (rs1800795), IL12b (rs3212227) and growth factor VEGFA (rs2010963) with anthracosilicosis in coal miners in Russia and related genotoxic effects.

    Science.gov (United States)

    Volobaev, Valentin P; Larionov, Aleksey V; Kalyuzhnaya, Ekaterina E; Serdyukova, Ekaterina S; Yakovleva, Svetlana; Druzhinin, Vladimir G; Babich, Olga O; Hill, Elena G; Semenihin, Victor A; Panev, Nikolay I; Minina, Varvara I; Sivanesan, Saravana Devi; Naoghare, Pravin; da Silva, Juliana; Barcelos, Gustavo R M; Prosekov, Alexander Y

    2018-01-25

    Anthracosilicosis (AS), a prevalent form of pneumoconiosis among coal miners, results from the accumulation of carbon and silica in the lungs from inhaled coal dust. This study investigated genotoxic effects and certain cytokine genes polymorphic variants in Russian coal miners with АS. Peripheral leukocytes were sampled from 129 patients with AS confirmed by X-ray and tissue biopsy and from 164 asymptomatic coal miners. Four single-nucleotide polymorphisms were genotyped in the extracted DNA samples: IL1β T-511C (rs16944), IL6 C-174G (rs1800795), IL12b A1188C (rs3212227) and VEGFA C634G (rs2010963). Genotoxic effects were assessed by the analysis of chromosome aberrations in cultured peripheral lymphocytes. The mean frequency of chromatid-type aberrations and chromosome-type aberrations, namely, chromatid-type breaks and dicentric chromosomes, was found to be higher in AS patients [3.70 (95% confidence interval {CI}, 3.29-4.10) and 0.28 (95% CI, 0.17-0.38)] compared to the control group [2.41 (95% CI, 2.00-2.82) and 0.09 (95% CI, 0.03-0.15)], respectively. IL1β gene T/T genotype (rs16944) was associated with AS [17.83% in AS patients against 4.35% in healthy donors, odds ratio = 4.77 (1.88-12.15), P < 0.01]. A significant increase in the level of certain chromosome interchanges among AS donors is of interest because such effects are typical for radiation damage and caused by acute oxidative stress. IL1β T allele probably may be considered as an AS susceptibility factor among coal miners. © The Author(s) 2018. Published by Oxford University Press on behalf of the UK Environmental Mutagen Society. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  5. [Effect of protocol RS-99 for childhood rhabdomyosarcoma].

    Science.gov (United States)

    Tang, Jing-Yan; Pan, Ci; Xu, Min; Xue, Hui-Liang; Chen, Jing; Dong, Lu; Zhou, Min; Gu, Long-Jun; Chen, Qi-Min

    2009-01-13

    To develop a reasonable protocol for childhood rhabdomyosarcoma (RS) to improve the prognosis of this disease. The protocol RS-99, developed on the base of pathological examination, clinical staging and grouping was used for 30 RS patients, 15 male and 15 female, aged 53 months (15-180 months). For the low-risk patients the regimen VCP and IeV were used alternately for 6 treatment courses and then local radiotherapy was given, for the median and high risk patients, regimen AVCP and IEV were used alternately for 6 courses, local radiotherapy and selective operation were performed, and then DEV and IeV were used alternately for 6 courses, and for the high-risk patients DEV and IeV were used alternately for 18 courses in total and then hematopoietic stem cell transplantation was conducted. Twenty-three of the 30 patients reached complete response (CR) 17 of which remained in CR for 37 (32-92) months, and 7 of the 30 patients achieved partial response (PR) but their condition worsened later. Relapse was seen in 6 patients 15 (7-38) months later. The 5 year event-free survival (EFS) rate was 47% and the overall survival (OS) rate was 52%. All the 10 stage I and II patients, 5 of the 8 stage III patients, and only 2 of the 12 stage IV patients still remained in CR. The protocol RS-99 is effective on the RS at stages I, II, and III, however, is ineffective on the disease at stage IV.

  6. Association of rs6983267 at 8q24, HULC rs7763881 polymorphisms and serum lncRNAs CCAT2 and HULC with colorectal cancer in Egyptian patients.

    Science.gov (United States)

    Shaker, Olfat G; Senousy, Mahmoud A; Elbaz, Eman M

    2017-11-24

    The impact of HULC rs7763881 on colorectal cancer (CRC) susceptibility is not yet known. Also, the biological function of the cancer-related rs6983267 remains unclear. We investigated the association of these SNPs with the risk of CRC and adenomatous polyps (AP), their correlation with CCAT2 and HULC expression, and the potential of serum CCAT2 and HULC as biomarkers for CRC. 120 CRC patients, 30 AP patients, and 96 healthy controls were included. Genotyping and serum lncRNAs were assayed by qPCR. Studied SNPs were not associated with AP susceptibility. rs6983267 GG was associated with increased CRC risk, whereas rs7763881 AC was protective. rs7763881 and rs6983267 CT haplotype was protective. Serum CCAT2 and HULC were upregulated in CRC and AP patients versus controls and discriminated these groups by ROC analysis. rs6983267 GG and rs7763881 AA patients demonstrated higher serum CCAT2 and HULC compared with GT/TT and AC, respectively. rs6983267 and serum HULC predicted CRC diagnosis among non-CRC groups (AP + controls) by multivariate analysis. Studied SNPs or serum long noncoding RNAs weren't correlated with nodal or distant metastasis. In conclusion, rs6983267 and rs7763881 are potential genetic markers of CRC predisposition and correlate with serum CCAT2 and HULC, two novel potential non-invasive diagnostic biomarkers for CRC.

  7. Molecular Analysis of rs2070744 and rs1799983 Polymorphisms of NOS3 Gene in Iranian Patients With Multiple Sclerosis.

    Science.gov (United States)

    Heidari, Mohammad Mehdi; Khatami, Mehri; Tahamtan, Yaser

    2017-01-01

    Multiple Sclerosis (MS) is a disease of central nervous system that mainly causes lesions or plaques in the spinal cord and brain. The purpose of this study was to analyze the relation between c.-813C>T (rs2070744) and c.894G>T (rs1799983) polymorphisms of NOS3 gene and MS in Iranian patients. A total of 78 patients with MS and 80 healthy controls were screened for NOS3 (rs2070744 and rs1799983) Single Nucleotide Polymorphisms (SNPs) by tetra-primer multiplex ARMS-PCR and PCR-RFLP. Genotype frequencies of the c.-813C>T polymorphism in patients compared to controls were as follows: 53.8% to 80.0% for TT genotype, 41.0% to 18.8% for TC genotype, and 5.1% versus 1.2% for CC genotype (P=0.001). The frequencies of GG genotype was 57.7% and 78.8% and for GT genotype of c.894G>T polymorphism in patients compared to control subjects was 42.3% and 21.2%, respectively (P=0.004). Our results indicate that the studied NOS3 polymorphisms may be associated with MS in Iranian patients.

  8. Radiation Dry Bias of the Vaisala RS92 Humidity Sensor

    Science.gov (United States)

    Vomel, H.; Selkirk, H.; Miloshevich, L.; Valverde-Canossa, J.; Valdes, J.; Kyro, E.; Kivi, R.; Stolz, W.; Peng, G.; Diaz, J. A.

    2007-01-01

    The comparison of simultaneous humidity measurements by the Vaisala RS92 radiosonde and by the Cryogenic Frostpoint Hygrometer (CFH) launched at Alajuela, Cosla Rica, during July 2005 reveals a large solar radiation dry bias of the Vaisala RS92 humidity sensor and a minor temperature-dependent calibration error. For soundings launched at solar zenith angles between 10" and 30 , the average dry bias is on the order of 9% at the surface and increases to 50% at 15 km. A simple pressure- and temperature-dependent correction based on the comparison with the CFH can reduce this error to less than 7% at all altitudes up to 15.2 km, which is 700 m below the tropical tropopause. The correction does not depend on relative humidity, but is able to reproduce the relative humidity distribution observed by the CFH.

  9. Predicting pKa for proteins using COSMO-RS

    DEFF Research Database (Denmark)

    Andersson, Martin Peter; Jensen, Jan Halborg; Stipp, Susan Louise Svane

    2013-01-01

    We have used the COSMO-RS implicit solvation method to calculate the equilibrium constants, pKa, for deprotonation of the acidic residues of the ovomucoid inhibitor protein, OMTKY3. The root mean square error for comparison with experimental data is only 0.5 pH units and the maximum error 0.8 p......H units. The results show that the accuracy of pKa prediction using COSMO-RS is as good for large biomolecules as it is for smaller inorganic and organic acids and that the method compares very well to previous pKa predictions of the OMTKY3 protein using Quantum Mechanics/Molecular Mechanics. Our approach...... works well for systems of about 1000 atoms or less, which makes it useful for small proteins as well as for investigating portions of larger proteins such as active sites in enzymes....

  10. Diagnosis of the retail flower market of Santa Maria, RS

    OpenAIRE

    Janine Farias Menegaes; Fernanda Alice Antonello Londero Backes; Rogério Antônio Bellé; Rogério Luiz Backes

    2015-01-01

    The present study aimed to diagnose the flowers retail market and ornamental plants in Santa Maria, RS, Brazil, by means of a research in loco, from January to June of 2013, based on questionnaires and interviews applied to the managers of the establishment, as well as of an application of a visual and phytosanitary scale to other establishments that sell flowers and ornamental plants, such as agricultural shops, fairs of horticultural products, supermarkets and providers of funeral services ...

  11. R.S. Peters' Comprehensive Theory of Moral Education

    OpenAIRE

    Cuypers, Stefaan

    2014-01-01

    This article presents R.S. Peters’ theory of moral education embedded in his broad conception of morality. The author examines Peters’ views against the background of Kohlberg’s stage theory of moral development; hence, the positions of both thinkers are interwoven throughout the discussion. It addresses some central issues relevant to moral education such as, for example: cognitive and affective aspects of morality, and the acquisition of virtues. In the article the author argues that Peters...

  12. IRF4 rs12203592 functional variant and melanoma survival.

    Science.gov (United States)

    Potrony, Miriam; Rebollo-Morell, Aida; Giménez-Xavier, Pol; Zimmer, Lisa; Puig-Butille, Joan Anton; Tell-Marti, Gemma; Sucker, Antje; Badenas, Celia; Carrera, Cristina; Malvehy, Josep; Schadendorf, Dirk; Puig, Susana

    2017-04-15

    Inherited genetic factors may modulate clinical outcome in melanoma. Some low-to-medium risk genes in melanoma susceptibility play a role in melanoma outcome. Our aim was to assess the role of the functional IRF4 SNP rs12203592 in melanoma prognosis in two independent sets (Barcelona, N = 493 and Essen, N = 438). Genotype association analyses showed that the IRF4 rs12203592 T allele increased the risk of dying from melanoma in both sets (Barcelona: odds ratio [OR] = 6.53, 95% CI 1.38-30.87, Adj p = 0.032; Essen: OR = 1.68, 95% CI 1.04-2.72, Adj p = 0.035). Survival analyses only showed significance for the Barcelona set (hazard ratio = 4.58, 95% CI 1.11-18.92, Adj p = 0.036). This SNP was also associated with tumour localization, increasing the risk of developing melanoma in head or neck (OR = 1.79, 95% CI 1.07-2.98, Adj p = 0.032) and protecting from developing melanoma in the trunk (OR = 0.59, 95% CI 0.41-0.85, Adj p = 0.004). These findings suggest for the first time that IRF4 rs12203592 plays a role in the modulation of melanoma outcome and confirms its contribution to the localization of the primary tumour. © 2017 UICC.

  13. Superhomod lähevad Tšetšeenia sõtta / Stephen McGinty

    Index Scriptorium Estoniae

    McGinty, Stephen

    2000-01-01

    Ameerika koomiksifirmas on loomisel esimesed homoseksuaalsed superkangelased Apollo ja Midnighter. Paari seksuaalsus paljastatakse koomiksis 'The Authority', mille annab välja koomiksifirma DC Comics. Sündmustiku autor Mark Miller. Arvamusi geist superkangelase ilmumise kohta

  14. [Anorexia nervosa with refeeding syndrome: prevention and treatment of RS].

    Science.gov (United States)

    Kasai, Makiko; Okajima, Yoshirou; Takano, Eisuke; Kato, Satoshi

    2009-01-01

    Refeeding syndrome (RS), seen in the early stages of anorexia nervosa (AN) treatment, has not been paid sufficient attention regarding its strong association with poor outcomes. This report describes a case of AN restriction type (AN-R) with sequent RS appearance despite the introduction of progressive and careful low-calorie nutrition, and discusses RS treatment. The patient was a 16-year-old female. She was first diagnosed with AN at the age of 14 when she went on a diet, admitted into pediatrics, and recovered: however, AN recurred after she started high school, and her weight decreased to 31.8 kg. She was admitted to pediatrics again, refused to receive treatment, discharged from the hospital, and introduced to our department. Soon after she came to us, her weight went down to 29.6 kg, and continued to decrease to 26.8 kg. She was recommended to receive inpatient care, but she firmly refused. A few days later, her experience of loss of consciousness made her agree to receive inpatient care. At this time, she was already weakened and had difficulty performing voluntary body movements as well as excretion. She was treated carefully and placed on 125 kcal/day. On the 6th day of treatment, severe liver damage was observed, her serum phosphorus level went down to 2.0 mg/dL, and she was diagnosed with RS. The lowest concentration of serum phosphorus observed was 1.3 mg/dL with blood abnormality and delirium; however, our strict management with intravascular phosphorus administration supported her increased dietary intake, and the patient was able to leave the hospital on the 54th day after admission. Based on this experience, the pathogenesis of RS was overviewed, and RS prevention as well as treatment was discussed. It has been reported that low phosphorus levels are observed in approximately one quarter of AN patients, and, thus, immediate action and treatment of hypophosphatemia are necessary when considering RS occurrence. In this study, the observed serum

  15. Association of the ENPP1 rs997509 polymorphism with obesity in ...

    African Journals Online (AJOL)

    ) polymorphisms have been associated with metabolic traits. There is no data on the effect of ENPP1 in South African children or adults. Objective: To investigate the role of K121Q (rs1044498), rs997509 and rs9402349 in obesity and other ...

  16. PC interfacing using Centronics, RS232 and game ports

    CERN Document Server

    An, Pei

    1998-01-01

    The main links with your PC and the outside world are the centronic port, used for connecting the printer, the RS232 port, used for the mouse, and the games port for a joystick. This book explores how these input/output (I/O) ports can be put to use through a range of other interfacing applications. This is especially useful for laptop and palmtop PCs which cannot be fitted with internal I/O cards. A novel approach is taken by this book, combining the hardware through which the ports can be explored, and the software programming needed to carry out a range of experiments.Circuits are p

  17. [Polymorphisms of rs4906902 and rs8179184 loci in the promoter of the GABRB3 gene and their relevance with schizophrenia].

    Science.gov (United States)

    Sun, Xue-fei; Ding, Mei; Sun, Ying; Pang, Hao; Xuan, Jin-feng; Xing, Jia-xin; Li, Chun-mei; Wang, Bao-jie

    2012-06-01

    To investigate the polymorphisms of rs4906902 and rs8179184 loci in the promoter of the gamma-aminobutyric acid(GABA) receptor A, beta3 subunit gene (GABRB3), and their relevance with schizophrenia. PCR and DNA sequencing were used to detect the polymorphisms of rs4906902 and rs8179184 loci in 210 healthy individuals (control group) and 206 schizophrenic patients (case group) of the Han population in northern China. The chi2 test was used to identify Hardy-Weinberg equilibrium of the genotype distribution in the control group followed by comparing differences in genotype and haplotype frequency distributions between two groups. Distributions of the genotype frequencies fit the law of Hardy-Weinberg equilibrium in the control group. rs4906902 and rs8179184 loci were in linkage disequilibrium and showed two haplotypes which were T-G and C-A. The differences of genotypic frequencies and haplotype frequencies were statistically significant between the two groups (P < 0.05). The frequency of haplotype C-A in the case group was significantly higher than in the control group. Genotypic and haplotype frequencies in the maternal line and paternal line were statistically significant in the case group (P < 0.05). The haplotype of C-A in rs4906902 and rs8179184 loci in the promoter of GABRB3 gene may be maternally inherited and positively associated with schizophrenia and may be a useful tool in the forensic identification of schizophrenia.

  18. Association of interleukin-1 receptor-associated kinase (IRAK1) gene polymorphisms (rs3027898, rs1059702) with systemic lupus erythematosus in a Chinese Han population.

    Science.gov (United States)

    Zhai, Yu; Xu, Ke; Leng, Rui-Xue; Cen, Han; Wang, Wei; Zhu, Yan; Zhou, Mo; Feng, Chen-Chen; Ye, Dong-Qing

    2013-06-01

    The purpose of this study was to examine the association of interleukin-1 receptor-associated kinase (IRAK1) polymorphisms (rs3027898, rs1059702) with systemic lupus erythematosus (SLE) in a Chinese Han population. A total of 667 SLE patients and 667 healthy controls were collected in this study. The genotyping of polymorphisms (rs3027898, rs1059702) was determined by TaqMan allele discrimination assay on the 7300 real-time polymerase chain reaction system. The statistical analysis was conducted by chi square test or Fisher's exact test. The frequency of C allele for rs3027898 in patients was significantly higher than in controls (C versus A: OR = 1.438, 95 % CI = 1.180-1.753, p oral ulcers. However, no significant difference was detected in IRAK1 rs1059702 polymorphism and the clinical manifestations. Our data demonstrate that the polymorphisms rs3027898 and rs1059702 of IRAK1 gene are associated with SLE in the Chinese Han population.

  19. No association between the SNPs (rs3749446 and rs1402000) in the PARL gene and LHON in Chinese patients with m.11778G>A.

    Science.gov (United States)

    Zhang, A-Mei; Jia, Xiaoyun; Zhang, Qingjiong; Yao, Yong-Gang

    2010-10-01

    According to a recent genome-wide linkage scan and association study of families with m.11778G>A in Thailand, two single nucleotide polymorphisms (SNPs) (rs3749446 and rs1402000) in the presenilins-associated rhomboid-like (PARL) gene were found to be associated with Leber hereditary optic neuropathy (LHON). In order to verify this association in Chinese LHON patients, we genotyped three PARL gene variants (rs3749446, rs953419, and rs1402000) in 179 patients with m.11778G>A and 170 patients with suspected LHON, and compared them to a control population containing the HapMap Chinese and 58 normal individuals analyzed in this study. We identified no association between these PARL gene SNPs and LHON in Chinese patients with m.11778G>A (P>0.05). Haplotype analysis also showed no statistical difference among the three Chinese populations.

  20. Associations between sarcoidosis clinical course and ANXA11 rs1049550 C/T, BTNL2 rs2076530 G/A, and HLA class I and II alleles.

    Science.gov (United States)

    Morais, Antonio; Lima, Bruno; Alves, Helena; Melo, Natalia; Mota, Patricia C; Marques, Agostinho; Delgado, Luis

    2016-09-24

    A genetic background may be responsible for the different clinical courses in sarcoidosis. We analyzed associations between sarcoidosis clinical course and HLA class I/II alleles and susceptibility gene SNPs ANXA11 rs1049550 C/T and BTNL2 rs2076530 G/A in a Portuguese population, investigating possible gene-gene interactions. We studied 138 unrelated Caucasian sarcoidosis patients (78 women, 56.5%; mean age, 37.2 ± 12.1 years). Disease that persisted after 2 years was considered chronic. Samples were genotyped for ANXA11 rs1049550 C/T and BTNL2 rs2076530 G/A SNPs using TaqMan Real-Time PCR Assays. HLA class I/II alleles were typed using PCR sequence-specific primers. Sixty-six patients experienced disease resolution and 72 (52%) developed chronic disease. Comparison of rs1049550 and rs2076530 allele frequencies showed no significant differences. Only the HLA DRB1*03 allele was significantly associated with disease resolution (21.2% vs 4.9% for chronic disease; RR = 0.35; P < .01 after Bonferroni correction). In the logistic regression models evaluating the association between HLA alleles and chronic sarcoidosis adjusted for rs1049550 and rs2076530, only DRB1*03 was significantly associated with disease resolution. No significant interactions were found in any of the logistic regression analyses. In this population of Caucasian patients with sarcoidosis, only DRB1*03 was associated with disease resolution after 2 years' follow-up, with no significant interactions found for susceptibility gene SNPs ANXA11 rs1049550 or BTNL2 rs2076530. © 2016 John Wiley & Sons Ltd.

  1. Association between SRD5A2 rs523349 and rs9282858 Polymorphisms and Risk of Benign Prostatic Hyperplasia: A Meta-Analysis

    Directory of Open Access Journals (Sweden)

    Xian-Tao Zeng

    2017-09-01

    Full Text Available Objective: Previous studies have reported that rs523349 (V89L and rs9282858 (A49T polymorphisms in the gene 5α-reductase II (SRD5A2 are associated with the risk of benign prostatic hyperplasia (BPH, but different opinions have emerged. In view of distinct discrepancies among those findings, we performed this meta-analysis to ascertain a more accurate association between SRD5A2 rs523349 and rs9282858 polymorphisms and the risk of BPH.Methods: Studies investigating the association between SRD5A2 rs523349 and rs9282858 polymorphisms and susceptibility to BPH were searched from the databases of PubMed, Embase, Wanfang, and Chinese National Knowledge Infrastructure (CNKI.The strength of correlation was assessed by crude odds ratios (ORs with their corresponding 95% confidence intervals (95% CIs. Moreover, subgroup analysis was conducted to further ascertain such relationship and investigate sources of heterogeneity.Results:SRD5A2 rs9282858 (A49T polymorphism showed a significant correlation with increased BPH susceptibility under allele T vs.allele A genetic model (OR = 2.51, 95% CI = 1.29–4.88 in total analysis, and stratification analysis by ethnicity also revealed a similar association in Caucasian group under the same contrast. SRD5A2 rs523349 (V89L polymorphism showed no significant role in BPH occurrence in total analysis, but its reducing and increasing effects on the disease risk were reflected in Caucasian and other-ethnicity subgroups, respectively, after stratification analysis by ethnicity.Conclusion: In conclusion, SRD5A2 rs9282858 polymorphism may elevate the susceptibility to BPH, while the polymorphism rs523349 may exert different influences on the disease in people of different ethnic lines.

  2. Analysis of polymorphic variants of CFTR (rs 113993960, IL-4 (rs 2243250, PRSS1 (rs 111033565, SPINK1 (rs ID 6690 and TNF-α (rs 1800629 Genes in Patients with Edematous Pancreatitis Living in Northern Bukovyna region

    Directory of Open Access Journals (Sweden)

    Sergei Ivashchuk

    2016-12-01

    Full Text Available The occurrence of gene mutations affecting the formation of acute pancreatitis or exacerbation of chronic pancreatitis differs in different populations and ethnic groups. The objective of the research was to study the incidence of CFTR (rs 113 993 960, IL-4 (rs 2243250, PRSS1 (rs 111 033 565, SPINK1 (rs ID 6690 and TNF-α (rs 1800629 gene mutations in Northern Bukovyna region and their dependence on etiological factor, sex and type of pancreatitis. Material and methods. Determination of IL-4 (C-590T, TNF-α (G-308A, PRSS1 (R122H, SPINK1 (N34S and CFTR (delF508 genes polymorphisms was performed in 123 patients with acute pancreatitis and the exacerbation of chronic pancreatitis and in 40 healthy individuals. Results. The relative incidence of PRSS1, CFTR, SPINK1 and TNF-α genes polymorphisms in patients with acute pancreatitis and the exacerbation of chronic pancreatitis did not significantly differ. Carriers of CC genotype of IL- 4 gene were present among the patients with acute pancreatitis and in the control group by 22.39% and 21.76% more often than among the patients with the exacerbation of chronic pancreatitis. Acute alcohol-related pancreatitis was observed in men significantly more often than gallstone pancreatitis, namely by 53.58% in carriers of “wild” GG-genotype of PRSS1 gene, by 29.64% in carriers of CC genotype of IL-4 gene, by 42.40% in carriers of NN-genotype of CFTR gene, and by 38.74% in carriers of GG-genotype of SPINK1 gene, respectively. Conclusions. The mutation of CFTR (rs 113 993 960, PRSS1 (rs 111 033 565, SPINK1 (rs ID6690 and TNF-α (rs1800629 gene in the homozygous state among the population of Northern Bukovyna was not detected. Acute alcohol-related pancreatitis was more often diagnosed in men in case of “wild” genotypes of PRSS1, CFTR and SPINK1 genes, whereas gallstone pancreatitis was more often diagnosed in women.

  3. Matrix metalloproteinase-3 gene polymorphism (rs3025058) affects markers atherosclerosis in type 2 diabetes mellitus.

    Science.gov (United States)

    Pleskovič, Aleš; Letonja, Marija Šantl; Vujkovac, Andreja Cokan; Starčević, Jovana Nikolajević; Caprnda, Martin; Curilla, Eduard; Mozos, Ioana; Kruzliak, Peter; Prosecky, Robert; Petrovič, Daniel

    2017-08-01

    The study was designed to test the possible association between either polymorphisms of the matrix metalloproteinase-9 (MMP-9) gene (rs17576, rs3918242) or the MMP-3 5A/6A gene polymorphism (rs3025058) with markers of carotid atherosclerosis in patients with type 2 diabetes mellitus (T2DM). The second aim of the study was to demonstrate an association between either the rs17576, rs3918242 or rs3025058 and subclinical markers of coronary artery disease in the same subset of patients with T2DM. A total of 595 subjects with T2DM and 200 subjects without T2DM (control group) were enrolled in the prospective study. Subclinical markers of carotid atherosclerosis were assessed ultrasonographically. Additionally, in a subset of subjects with T2DM a coronary computed tomography angiography (CCTA) was performed for diagnostic purposes. Genotyping of all three polymorphisms (rs17576, rs3918242, rs3025058) was performed with real-time PCR systems. The comparison of atherosclerosis parameters was performed with regard to different genotypes of MMP-9 rs17576, rs3918242, and MMP-3 rs3025058 polymorphisms upon enrolment and during follow-up. In our study, we found an association between the MMP-3 rs3025058 and CIMT at the time of recruitment. Multiple linear regression analysis revealed the association of either the A- allele or the A- genotypes of the rs3025058 (MMP-3) with carotid intima media thickness (CIMT) progression in a 3.8-year follow-up. We demonstrated the effect of the rs3025058 on subclinical markers of coronary atherosclerosis (coronary calcium score, number of coronary arteries with more than 50 % stenosis, and presence of at least one vessel with more than 50 % stenosis). We found an association between the MMP-3 rs3025058 and subclinical markers of carotid (CIMT) and coronary atherosclerosis at the time of recruitment. Moreover, we demonstrated the effect of the MMP-3 rs3025058 on CIMT progression in the 3.8-year follow-up in patients with T2DM.

  4. Look beyond Catechol-O-Methyltransferase genotype for cathecolamines derangement in migraine: the BioBIM rs4818 and rs4680 polymorphisms study.

    Science.gov (United States)

    De Marchis, Maria Laura; Barbanti, Piero; Palmirotta, Raffaele; Egeo, Gabriella; Aurilia, Cinzia; Fofi, Luisa; Piroso, Serena; Ialongo, Cristiano; Della-Morte, David; D'Andrea, Giovanni; Ferroni, Patrizia; Guadagni, Fiorella

    2015-01-01

    The study of COMT gene polymorphisms in migraine could be of particular interest since impaired catecholaminergic neurotransmission, namely chronic dopaminergic and noradrenergic hypofunction, is a peculiar migraine trait. In this study, for the first time, we focused on the role of COMT rs4818 genetic variant, the polymorphism most strongly affecting COMT activity, in migraine. This study was conducted in a cohort of carefully clinical characterized Caucasian migraineurs recruited in a specifically dedicated migraine biobank, providing also a replication study on rs4680 polymorphism. Genotyping of rs4680 and rs4818 Catechol-O-Methyltransferase gene polymorphisms was performed on 380 unrelated migraine patients, and 132 healthy subjects matched for age, gender and race-ethnicity, with no clinical evidence or family history of migraine or other neurological diseases. The rs4680 and rs4818 genotypic frequencies did not deviate from those expected for a population in Hardy-Weinberg equilibrium and did not correlate with demographics or clinical migraine features, even when considering migraine subtypes such as dopaminergic migraine, menstrual migraine, and menstrually related migraine . COMT genotype does not influence migraine susceptibility or phenotype, even considering rs4818 polymorphism and peculiar clinical subtypes. This finding prompts to go over COMT to explain catecholamine derangement in migraine, exploring enzymes involved in catecholamines synthesis and catabolism, such as monoamine-oxidase, dopamine beta-hydroxylase, tyrosine-hydroxylase or tyrosine-decarboxylase, among others.

  5. Sustentabilidade empresarial no contexto das vinte maiores empresas do RS

    Directory of Open Access Journals (Sweden)

    Mariluci Nuglisch Lima

    2013-11-01

    Full Text Available O presente trabalho teve como objetivo verificar se há divulgação de ações e iniciativas ambientais adotadas pelas vinte maiores empresas no RS. A coleta dos dados foi por meio dos sites e relatórios e, em seguida, sua interpretação, utilizando a análise descritiva de dados. Por fim, evidencia-se a falta do disclosure em valores monetários relacionados nas demonstrações financeiras, o que muito pouco se visualizou nos demonstrativos publicados, bem como uma maior divulgação destas em suas páginas online.

  6. Results of RS-99 protocol for childhood solid tumors.

    Science.gov (United States)

    Cai, Jiao-Yang; Tang, Jing-Yan; Pan, Ci; Xu, Min; Xue, Hui-Liang; Zhou, Min; Dong, Lu; Ye, Qi-Dong; Jiang, Hua; Shen, Shu-Hong; Chen, Jing

    2010-02-01

    Little was known about the therapeutic result of rhabdomyosarcomas (RMSs) and other malignant tumors until the end of the last century in China. Very few prospective clinical research results have been reported. We designed a RS-99 protocol under close cooperation of a multidisciplinary team including surgeons, radiologists, pathologists, and pediatric oncologists at Shanghai Children's Medical Center. This study aimed to improve the prognosis of childhood solid tumors and analyze the results of different tumors with the same protocol, including RMSs, the Ewing sarcoma family of tumors (ESFTs), and ex-cranial germ cell tumors (GCTs). Sixty-six patients with malignant solid tumors [RMS (n=30), GCT (n=22), and ESFT (n=14)] were enrolled on the RS-99 protocol from October 1998 to October 2006. They were 34 girls and 32 boys aged 9 to 194 months. The protocol involved surgery, radiotherapy and chemotherapy which included VCP (vincristine, cisdiaminedichloroplatinum, and cyclophosphamide) and IEV (etoposide, vincristine and ifosfamide) for the low-risk group, AVCP (adriamycin, vincristine, cisdiaminedichloroplatinum, and cyclophosphamide) and IEV for the intermediate-risk group and high-risk group. Peripheral blood stem cell transplantation was suggested for the high-risk group. Radiotherapy was only given for RMS and ESFT. Differences in survival between the groups were determined by comparison of entire survival curves and tested by the Kaplan-Meier method and the log-rank tests. The 5-year event-free survival (EFS) for the whole group (RMS, ESFT and GCT) was 60%. The 5-year EFS for children with RMS was 35% (95% CI 16-54), GCT was 79% (95% CI 70-88) and ESFT was 72% (95% CI 58-86). The 5-year EFS showed that the patients with RMS in the retroperitoneum-pelvis did not have a better result than those with tumors in other sites (P=0.604). The histological classification of RMS exerted prognostic influence on the estimated 5-year EFS (P=0.04). Tumor stage and risk group

  7. Editorial: 3Rs tightly intertwined to maintain genome stability

    DEFF Research Database (Denmark)

    Lisby, Michael; Mortensen, Uffe H.

    2017-01-01

    , replication of damaged DNA results in stalled replication forks that await DNA damage repair before replication can be resumed. In turn, the repair of most lesions depends on processes involving DNA synthesis. At the same time, the stalled forks may engage in recombination, either as part of a controlled......DNA recombination, repair and replication are three large and vibrant research fields where each ‘R’ could deserve a series of reviews in its own right. However, as the 3Rs are tightly interwoven processes, one R can often not be fully understood without including the others. For example...... repair process or by accident, just because it can, with the risk of producing genome rearrangements and loss of heterozygosity. The set of reviews presented in this thematic issue (https://academic-oup-com.proxy.findit.dtu.dk/femsyr/pages/replication_recombination_and_repair) of FEMSYR has been selected...

  8. Opportunities to Apply the 3Rs in Safety Assessment Programs.

    Science.gov (United States)

    Sewell, Fiona; Edwards, Joanna; Prior, Helen; Robinson, Sally

    2016-12-01

    Before a potential new medicine can be administered to humans it is essential that its safety is adequately assessed. Safety assessment in animals forms an integral part of this process, from early drug discovery and initial candidate selection to the program of recommended regulatory tests in animals. The 3Rs (replacement, reduction, and refinement of animals in research) are integrated in the current regulatory requirements and expectations and, in the EU, provide a legal and ethical framework for in vivo research to ensure the scientific objectives are met whilst minimizing animal use and maintaining high animal welfare standards. Though the regulations are designed to uncover potential risks, they are intended to be flexible, so that the most appropriate approach can be taken for an individual product. This article outlines current and future opportunities to apply the 3Rs in safety assessment programs for pharmaceuticals, and the potential (scientific, financial, and ethical) benefits to the industry, across the drug discovery and development process. For example, improvements to, or the development of, novel, early screens (e.g., in vitro, in silico, or nonmammalian screens) designed to identify compounds with undesirable characteristics earlier in development have the potential to reduce late-stage attrition by improving the selection of compounds that require regulatory testing in animals. Opportunities also exist within the current regulatory framework to simultaneously reduce and/or refine animal use and improve scientific outcomes through improvements to technical procedures and/or adjustments to study designs. It is important that approaches to safety assessment are continuously reviewed and challenged to ensure they are science-driven and predictive of relevant effects in humans. © The Author 2016. Published by Oxford University Press.

  9. The obesity-associated polymorphisms FTO rs9939609 and MC4R rs17782313 and endometrial cancer risk in non-Hispanic white women.

    Directory of Open Access Journals (Sweden)

    Galina Lurie

    Full Text Available Overweight and obesity are strongly associated with endometrial cancer. Several independent genome-wide association studies recently identified two common polymorphisms, FTO rs9939609 and MC4R rs17782313, that are linked to increased body weight and obesity. We examined the association of FTO rs9939609 and MC4R rs17782313 with endometrial cancer risk in a pooled analysis of nine case-control studies within the Epidemiology of Endometrial Cancer Consortium (E2C2. This analysis included 3601 non-Hispanic white women with histologically-confirmed endometrial carcinoma and 5275 frequency-matched controls. Unconditional logistic regression models were used to assess the relation of FTO rs9939609 and MC4R rs17782313 genotypes to the risk of endometrial cancer. Among control women, both the FTO rs9939609 A and MC4R rs17782313 C alleles were associated with a 16% increased risk of being overweight (p = 0.001 and p = 0.004, respectively. In case-control analyses, carriers of the FTO rs9939609 AA genotype were at increased risk of endometrial carcinoma compared to women with the TT genotype [odds ratio (OR  = 1.17; 95% confidence interval (CI: 1.03-1.32, p = 0.01]. However, this association was no longer apparent after adjusting for body mass index (BMI, suggesting mediation of the gene-disease effect through body weight. The MC4R rs17782313 polymorphism was not related to endometrial cancer risk (per allele OR = 0.98; 95% CI: 0.91-1.06; p = 0.68. FTO rs9939609 is a susceptibility marker for white non-Hispanic women at higher risk of endometrial cancer. Although FTO rs9939609 alone might have limited clinical or public health significance for identifying women at high risk for endometrial cancer beyond that of excess body weight, further investigation of obesity-related genetic markers might help to identify the pathways that influence endometrial carcinogenesis.

  10. The obesity-associated polymorphisms FTO rs9939609 and MC4R rs17782313 and endometrial cancer risk in non-Hispanic white women.

    Science.gov (United States)

    Lurie, Galina; Gaudet, Mia M; Spurdle, Amanda B; Carney, Michael E; Wilkens, Lynne R; Yang, Hannah P; Weiss, Noel S; Webb, Penelope M; Thompson, Pamela J; Terada, Keith; Setiawan, Veronica Wendy; Rebbeck, Timothy R; Prescott, Jennifer; Orlow, Irene; O'Mara, Tracy; Olson, Sara H; Narod, Steven A; Matsuno, Rayna K; Lissowska, Jolanta; Liang, Xiaolin; Levine, Douglas A; Le Marchand, Loic; Kolonel, Laurence N; Henderson, Brian E; Garcia-Closas, Montserrat; Doherty, Jennifer Anne; De Vivo, Immaculata; Chen, Chu; Brinton, Louise A; Akbari, Mohammad R; Goodman, Marc T

    2011-02-08

    Overweight and obesity are strongly associated with endometrial cancer. Several independent genome-wide association studies recently identified two common polymorphisms, FTO rs9939609 and MC4R rs17782313, that are linked to increased body weight and obesity. We examined the association of FTO rs9939609 and MC4R rs17782313 with endometrial cancer risk in a pooled analysis of nine case-control studies within the Epidemiology of Endometrial Cancer Consortium (E2C2). This analysis included 3601 non-Hispanic white women with histologically-confirmed endometrial carcinoma and 5275 frequency-matched controls. Unconditional logistic regression models were used to assess the relation of FTO rs9939609 and MC4R rs17782313 genotypes to the risk of endometrial cancer. Among control women, both the FTO rs9939609 A and MC4R rs17782313 C alleles were associated with a 16% increased risk of being overweight (p = 0.001 and p = 0.004, respectively). In case-control analyses, carriers of the FTO rs9939609 AA genotype were at increased risk of endometrial carcinoma compared to women with the TT genotype [odds ratio (OR)  = 1.17; 95% confidence interval (CI): 1.03-1.32, p = 0.01]. However, this association was no longer apparent after adjusting for body mass index (BMI), suggesting mediation of the gene-disease effect through body weight. The MC4R rs17782313 polymorphism was not related to endometrial cancer risk (per allele OR = 0.98; 95% CI: 0.91-1.06; p = 0.68). FTO rs9939609 is a susceptibility marker for white non-Hispanic women at higher risk of endometrial cancer. Although FTO rs9939609 alone might have limited clinical or public health significance for identifying women at high risk for endometrial cancer beyond that of excess body weight, further investigation of obesity-related genetic markers might help to identify the pathways that influence endometrial carcinogenesis.

  11. Association between CYP19 gene SNP rs2414096 Polymorphism and polycystic ovary syndrome in Chinese women

    OpenAIRE

    Jin, Jia-Li; Sun, Jing; Ge, Hui-Juan; Cao, Yun-Xia; Wu, Xiao-Ke; Liang, Feng-Jing; Sun, Hai-Xiang; Ke, Lu; Yi, Long; Wu, Zhi-Wei; Wang, Yong

    2009-01-01

    Abstract Background Several studies have reported the association of the SNP rs2414096 in the CYP19 gene with hyperandrogenism, which is one of the clinical manifestations of polycystic ovary syndrome (PCOS). These studies suggest that SNP rs2414096 may be involved in the etiopathogenisis of PCOS. To investigate whetherthe CYP19 gene SNP rs2414096 polymorphism is associated with the susceptibility to PCOS, we designed a case-controlled association study including 684 individuals. Methods A ca...

  12. Single nucleotide polymorphism rs6716901 in SLC25A12 gene is associated with Asperger syndrome.

    Science.gov (United States)

    Durdiaková, Jaroslava; Warrier, Varun; Baron-Cohen, Simon; Chakrabarti, Bhismadev

    2014-03-31

    Autism Spectrum Conditions (ASC) are a group of developmental conditions which affect communication, social interactions and behaviour. Mitochondrial oxidative dysfunction has been suggested as a mechanism of autism based on the results of multiple genetic association and expression studies. SLC25A12 is a gene encoding a calcium-binding carrier protein that localizes to the mitochondria and is involved in the exchange of aspartate for glutamate in the inner membrane of the mitochondria regulating the cytosolic redox state. rs2056202 SNP in this gene has previously been associated with ASC. SNPs rs6716901 and rs3765166 analysed in this study have not been previously explored in association with AS. We genotyped three SNPs (rs2056202, rs3765166, and rs6716901) in SLC25A12 in n?=?117 individuals with Asperger syndrome (AS) and n?=?426 controls, all of Caucasian ancestry. rs6716901 showed significant association with AS (P?=?0.008) after correcting for multiple testing. We did not replicate the previously identified association between rs2056202 and AS in our sample. Similarly, rs3765166 (P?=?0.11) showed no significant association with AS. The present study, in combination with previous studies, provides evidence for SLC25A12 as involved in the etiology of AS. Further cellular and molecular studies are required to elucidate the role of this gene in ASC.

  13. Ocorrência Meloidogyne graminicola em Santa Maria, RS Ocurrence of Meloidogyne graminicola em Santa Maria, RS

    Directory of Open Access Journals (Sweden)

    Cezar Bauer Gomes

    1997-08-01

    Full Text Available Relata-se a ocorrência do nematóide Meloidogyne graminicola em área de arroz irrigado no município de Santa Maria, no ano agrícola de 1995/96. Observou-se a presença de galhas nas extremidades de raízes de arroz, semelhantes a pequenos "cabos de guarda-chuva". A ocorrência deste sintoma foi constatada principalmente em plantas com ausência de lâmina d'água.The occurrence of the root-knot nematode Meloidogyne graminicola in irrigated rice in Santa Maria, RS during the 1995/96 growing season is reported. Galls on tips of the roots looking like small "umbrella's cabes" were observed. The occurrence of this symptom was detected mainly in areas with no flodding water.

  14. Roles of CDKN1A gene polymorphisms (rs1801270 and rs1059234) in the development of cervical neoplasia.

    Science.gov (United States)

    Vargas-Torres, Sandra Liliana; Portari, Elyzabeth Avvad; Silva, Amanda Lima; Klumb, Evandro Mendes; da Rocha Guillobel, Heloísa Carneiro; de Camargo, Maria José; Santos-Rebouças, Cíntia Barros; Russomano, Fábio Bastos; Macedo, Jacyara Maria Brito

    2016-08-01

    The CDKN1A gene product is a p53 downstream effector, which participates in cell differentiation, development process, repair, apoptosis, senescence, migration, and tumorigenesis. The objective of our study was investigated the importance of two polymorphisms in the CDKN1A gene, rs1801270 (31C>A) and rs1059234 (70C>T), for the development of cervical lesions in a Southeastern Brazilian population (283 cases, stratified by lesion severity, and 189 controls). CDKN1A genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and/or DNA sequencing. CDKN1A 31A allele presents a genetic pattern of protection for the development of high-grade cervical lesions (CC vs CA genotype: OR = 0.60; 95 % CI = 0.38-0.95; p = 0.029; CA+AA vs CC genotype: OR = 0.60; 95 % CI = 0.39-0.93; p = 0.021). Allele distributions of the CDKN1A 70C>T polymorphism were also different between the two study groups, with the CDKN1A 70T allele being less prevalent among cases. Moreover, the double heterozygote genotype combination 31CA-70CT decreases the chance of developing high-grade squamous intraepithelial lesion (HSIL) and cancer (OR = 0.55; 95 % CI = 0.32-0.93; p = 0.034) by 50 %, representing a protective factor against the development of more severe cervical lesions.

  15. The Two-Component System CprRS Senses Cationic Peptides and Triggers Adaptive Resistance in Pseudomonas aeruginosa Independently of ParRS

    DEFF Research Database (Denmark)

    Fernandez, Luca; Jenssen, Håvard; Bains, Manjeet

    2012-01-01

    the action of the arnBCADTEF operon. We recently described a series of two-component regulators that lead to the activation of the arn operon after recognizing environmental signals, including low-Mg2+ (PhoPQ, PmrAB) or cationic (ParRS) peptides. However, some peptides did not activate the arn operon through......Cationic antimicrobial peptides pass across the outer membrane by interacting with negatively charged lipopolysaccharide (LPS), leading to outer membrane permeabilization in a process termed self-promoted uptake. Resistance can be mediated by the addition of positively charged arabinosamine through...... ParRS. Here, we report the identification of a new two-component system, CprRS, which, upon exposure to a wide range of antimicrobial peptides, triggered the expression of the LPS modification operon. Thus, mutations in the cprRS operon blocked the induction of the arn operon in response to several...

  16. A Combination of CD28 (rs1980422 and IRF5 (rs10488631 Polymorphisms Is Associated with Seropositivity in Rheumatoid Arthritis: A Case Control Study.

    Directory of Open Access Journals (Sweden)

    Lucia Vernerova

    Full Text Available The aim of the study was to analyse genetic architecture of RA by utilizing multiparametric statistical methods such as linear discriminant analysis (LDA and redundancy analysis (RDA.A total of 1393 volunteers, 499 patients with RA and 894 healthy controls were included in the study. The presence of shared epitope (SE in HLA-DRB1 and 11 SNPs (PTPN22 C/T (rs2476601, STAT4 G/T (rs7574865, CTLA4 A/G (rs3087243, TRAF1/C5 A/G (rs3761847, IRF5 T/C (rs10488631, TNFAIP3 C/T (rs5029937, AFF3 A/T (rs11676922, PADI4 C/T (rs2240340, CD28 T/C (rs1980422, CSK G/A (rs34933034 and FCGR3A A/C (rs396991, rheumatoid factor (RF, anti-citrullinated protein antibodies (ACPA and clinical status was analysed using the LDA and RDA.HLA-DRB1, PTPN22, STAT4, IRF5 and PADI4 significantly discriminated between RA patients and healthy controls in LDA. The correlation between RA diagnosis and the explanatory variables in the model was 0.328 (Trace = 0.107; F = 13.715; P = 0.0002. The risk variants of IRF5 and CD28 genes were found to be common determinants for seropositivity in RDA, while positivity of RF alone was associated with the CTLA4 risk variant in heterozygous form. The correlation between serologic status and genetic determinants on the 1st ordinal axis was 0.468, and 0.145 on the 2nd one (Trace = 0.179; F = 6.135; P = 0.001. The risk alleles in AFF3 gene together with the presence of ACPA were associated with higher clinical severity of RA.The association among multiple risk variants related to T cell receptor signalling with seropositivity may play an important role in distinct clinical phenotypes of RA. Our study demonstrates that multiparametric analyses represent a powerful tool for investigation of mutual relationships of potential risk factors in complex diseases such as RA.

  17. Impact of MTHFR rs1801133, MTHFR rs1801131 and ABCB1 rs1045642 polymorphisms with increased susceptibility of rheumatoid arthritis in the West Algerian population: A case-control study.

    Directory of Open Access Journals (Sweden)

    Wefa BOUGHRARA

    2015-10-01

    Full Text Available Rheumatoid arthritis (RA is an autoimmune disease that results in a chronic systemic inflammation. A few genetic epidemiologic studies found a potential association between genetic polymorphisms C677T (rs1801133 and A1298C (rs1801131 of methylenetatrahydrofolate reductase (MTHFR gene and C3435T (rs1045642 of ATP-Binding cassette (ABCB1 gene and the increased risk for RA. The aim of this case-control study was to determine the relationship between these polymorphisms and RA susceptibility in West Algerian population. The dataset of the current study is composed of 110 RA patients and 101 healthy controls. All samples were genotyped for theses polymorphisms by TaqMan® allelic discrimination assay. Data were compared between cases and controls by the calculation of the odds ratio (OR with a confidence interval at 95%. After age and RA erosion-stratified analyzes, no differences in genotypes or alleles frequencies distribution were found for MTHFR C677T (rs1801133 and ABCB1 C3435T (rs1045642 polymorphisms between RA cases and controls. However, the MTHFR A1298C (rs1801131 polymorphism presented a significant distribution in RA with age ≥ 40 (Genotypic data: p=0.007, OR=13.53[1.44-63.31], Allelic data: p=0.001, OR=2.39[1.39-4.1], and in RA erosive form (Genotypic data: p=0.002, OR=6.92[1.68-30.23], Allelic data: p=0.0001, OR=2.43[1.54-3.85].These results were confirmed after the Bonferroni correction. In this study we have showed, for the first time in the West Algerian population, that the MTHFR A1298C (rs1801131 polymorphism can be associated with rheumatoid arthritis.

  18. Lack of association of two common polymorphisms rs2910164 and rs11614913 with susceptibility to hepatocellular carcinoma: a meta-analysis.

    Directory of Open Access Journals (Sweden)

    Zhongxia Wang

    Full Text Available BACKGROUND: Single nucleotide polymorphisms (SNPs in microRNA-coding genes may participate in the process of carcinogenesis by altering the expression of tumor-related microRNAs. It has been suggested that two common SNPs rs2910164 in miR-146a and rs11614913 in miR-196a2 are associated with susceptibility to hepatocellular carcinoma (HCC. However, published results are inconsistent and inconclusive. In the present study, we performed a meta-analysis to systematically summarize the possible association between the two SNPs and the risk for HCC. METHODOLOGY/PRINCIPAL FINDINGS: We conducted a search of case-control studies on the associations of SNPs rs2910164 and/or rs11614913 with susceptibility to HCC in PubMed, EMBASE, ISI Web of Science, Cochrane Central Register of Controlled Trials, ScienceDirect, Wiley Online Library and Chinese National Knowledge Infrastructure databases. Data from eligible studies were extracted for meta-analysis. HCC risk associated with the two polymorphisms was estimated by pooled odds ratios (ORs and 95% confidence intervals (95% CIs. 5 studies on rs2910164 and 4 studies on rs11614913 were included in our meta-analysis. Our results showed that neither allele frequency nor genotype distribution of the two polymorphisms was associated with risk for HCC in all genetic models. Similarly, subgroup analysis in Chinese population showed no association between the two SNPs and the susceptibility to HCC. CONCLUSIONS/SIGNIFICANCE: This meta-analysis suggests that two common SNPs rs2910164 and rs11614913 are not associated with the risk of HCC. Well-designed studies with larger sample size and more ethnic groups are required to further validate the results.

  19. Association between Insulin-Like Growth Factor 1 Gene rs12423791 or rs6214 Polymorphisms and High Myopia: A Meta-Analysis

    Science.gov (United States)

    Guo, Lan; Du, Xueying; Lu, Ciyong; Zhang, Wei-Hong

    2015-01-01

    Objective To evaluate the association of insulin-like growth factor 1 gene rs12423791 and rs6214 polymorphisms with high myopia. Methods An electronic search was conducted on PubMed, Embase, the Cochrane Library and the Chinese Biological Abstract Database for articles published prior to May 6, 2014. A meta-analysis was performed using Revman 5.1 and Stata 12.0, and the odds ratios with 95% confidence intervals were calculated in fixed or random effects models based on the results of the Q test. The subgroup analysis was conducted on the basis of the various regions, the sensitivity analysis was also performed to evaluate the stability of the results, and the publication bias was evaluated by a funnel plot and Egger’s linear regression analysis. Results This comprehensive meta-analysis included 2808 high myopia patients and 2778 controls from five unrelated studies. The results demonstrated that the significant association was not present in any genetic models between IGF-1 rs12423791 or rs6214 and high myopia. However, subgroup analysis indicated that rs12423791 polymorphism was associated with high myopia in the Chinese populations in the allelic contrast model (C vs. G: OR=1.24, 95% CI=1.04-1.48 in the fixed-effects model), the dominant model (CC+CG vs. GG: OR=1.40, 95% CI=1.16-1.69 in the fixed-effects model), and the codominant model (CG vs. GG: OR=1.37, 95% CI= 1.12-1.68 in the fixed-effects model). Additionally, none of the individual studies significantly affected the association between IGF-1 rs12423791 and high myopia, according to sensitivity analysis. Conclusion This meta-analysis shows that IGF-1 rs12423791 or rs6214 gene polymorphism is not associated with high myopia. PMID:26076017

  20. Association of Mannose-Binding Lectin rs1800450 and Tumor Necrotic Factor-α rs1800620 Polymorphism with Helicobacter pylori in Type II Diabetes Mellitus.

    Science.gov (United States)

    Mortazavi, Elnaz; Eslami, Behnaz; Aghahosseini, Parisa; Ahron, Fatemeh; Amininejad, Armagan; Mahmoodi, Sepideh; Satarpour, Hadis; Radmanesh, Nilofar; Rassi, Hossein

    2017-10-01

    Type II diabetes mellitus (T2DM) is the prevalent type of diabetes, including 90% of the cases world-wide. Helicobacter pylori plays a pathogenic role in the development of T2DM. The host genetic factors have a significant impact on the clinical outcome and anatomical distribution of H. pylori infection and polymorphisms in several genes such as tumor necrotic factor (TNF)-α and mannose-binding lectin (MBL) and are considered to increase the risk for the development of T2DM. In this study, we investigate the prevalence rate of H. pylori infection and its relationship to MBL rs1800450 and TNF-α rs1800620 polymorphism in T2DM. In this case-control study, 174 patients with type II diabetes and 185 healthy controls were studied. Also, demographics, physical, and biochemical parameters were performed in all patients. The DNA extracted from blood specimens was amplified by H. pylori cagA-specific primers. The MBL rs1800450 and TNF-α rs1800620 genotyping were detected by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR). The results show that H. pylori cagA positivity was detected in 42.82% of the diabetic patients and in 22.16% of the control group, and H. pylori infection was closely correlated with MBL rs1800450 AA genotype and TNF-α rs1800620 GG genotype when compared with healthy controls. Furthermore, these two genotypes were strongly associated with H. pylori cagA(+) samples when compared with cagA(-) samples. In addition, the presence of H. pylori cagA(+) infection was significantly associated with the elevated serum levels of total cholesterol and low-density lipoprotein cholesterol. In general, it can be concluded that molecular analysis of MBL rs1800450 AA genotype and TNF-α rs1800620 AA genotype is important in the early detection and treatment of T2DM with H. pylori cagA(+) infection.

  1. Association between rs7517847 and rs2201841 polymorphisms in IL-23 receptor gene and risk of ankylosing spondylitis: a meta-analysis

    Directory of Open Access Journals (Sweden)

    Bin Xu

    2015-04-01

    Full Text Available To comprehensively evaluate the association between rs7517847 and rs2201841 polymorphisms in the Interleukin-23 (IL-23 receptor gene and ankylosing spondylitis (AS, a meta-analysis was performed. The Pubmed, Embase, MEDLINE, Cochrane, China National Knowledge Infrastructure (CNKI, VIP, Wanfang and China Biology Medicine disc (CBMdisc databases were searched to identify eligible studies on rs7517847 and rs2201841 polymorphisms in the IL-23 receptor gene and AS that were published through September 2014. Data of interest were extracted from each study, and the meta-analysis was performed using STATA 12.0. Four studies were eligible for the meta-analysis and included a total patient population of 2,465. With regards to rs7517847, the current study showed that the genotype GG and allele G might play a protective role during AS (OR = 0.76, 95% CI [0.59–0.99]; OR = 0.88, 95% CI [0.78–0.99] for homozygote and allelic models, respectively. However, according to the meta-analysis, there was no statistical association between the genotype or allele of rs2201841 and an individual’s susceptibility to AS in all genetic models. In conclusion, it was the IL-23 rs7517847 polymorphism rather than the rs2201841 polymorphism that had a statistical association with AS. Nevertheless, more evidence is needed to confirm this result. Consequently, it is necessary to carry out more high-quality studies to confirm the associations between these two single nucleotide polymorphisms and AS.

  2. rs11886868 and rs4671393 of BCL11A associated with HbF level variation and modulate clinical events among sickle cell anemia patients.

    Science.gov (United States)

    Chaouch, Leila; Moumni, Imen; Ouragini, Houyem; Darragi, Imen; Kalai, Miniar; Chaouachi, Dorra; Boudrigua, Imen; Hafsia, Raouf; Abbes, Salem

    2016-08-01

    Fetal hemoglobin (HbF) modulates the phenotype of sickle cell anemia (SCA) by inhibiting deoxy sickle hemoglobin (HbS) polymerization. HbF genes are genetically regulated, and the level of HbF and its distribution among sickle erythrocytes is highly variable. Herein, we aimed to determine whether two functional polymorphisms of BCL11A are implicated in the variation of HbF and clinical events in SCA Tunisian patients. The studied population consisted of 148 SCA patients with SS phenotype. The group of patients was divided into two subgroups according to the threshold point of %HbF which is 15%. Genotyping of rs11886868 and rs4671393 was performed using PCR/Sequencing. To test for trait association with the candidate SNPs, genotype and allele frequencies between 'group who had %HbF 15' (controls) were compared using Pearson's chi-square test (compare 2, version 1.02). The association of each genotype and the combined genotype with complications was performed by logistic regression test. Our findings showed that the majority of patients carried genotype CT of rs11886868 and genotypes AG and GG of rs4671393 present HbF level < 15%. RR = 0.08, RR = 0.176, and RR = 0.189, respectively. The results showed a significant association between the alleles T of rs11886868 and G of rs4671393 and %HbF < 15% with P = 0.016; RR = 0.39 and P = 8.9 × 10(-3): RR = 0.567, respectively. Interestingly, the C allele of the rs11886868 and the A allele of the rs46713939 were associated with an ameliorated phenotype in patient's SCA. The combination of the genotypes GG and CT explains more phenotypic variance than the sum of the two BCL11A SNPs taken individually.

  3. Polymorphic Variants rs3088442 and rs2292334 in the Organic Cation Transporter 3 (OCT3) Gene and Susceptibility Against Type 2 Diabetes: Role of their Interaction.

    Science.gov (United States)

    Mahrooz, Abdolkarim; Alizadeh, Ahad; Hashemi-Soteh, Mohammad Bagher; Ghaffari-Cherati, Maryam; Hosseyni-Talei, Seyyedeh Raheleh

    2017-02-01

    In this study, we investigated whether two common variants (rs3088442G>A and rs2292334G>A) in the organic cation transporter 3 (OCT3) gene, a high-capacity transporter widely expressed in various tissues, affect susceptibility to type 2 diabetes (T2D) in patients newly diagnosed with T2D. We performed a study with 150 newly diagnosed patients with T2D and 152 controls. The genetic analyses were performed using the restricted fragment length polymorphism (RFLP) after PCR amplification. For the rs3088442G>A variant, A allele carriers had a significantly lower odds ratio (OR) vs. GG homozygotes in the BMI A variant was associated with a decreased risk of T2D (OR = 0.016, p A in the 3'-untranslated region of the OCT3 gene in susceptibility to T2D, and that the protective role is maintained in the presence of risky alleles of the variant rs2292334G>A. The association of the A allele of rs3088442G>A with T2D become weaker in obese people than that of non-obese. If confirmed in other populations, the rs3088442G>A variant as a genetic marker may potentially assist in the identification of individuals at an increased risk of T2D. Copyright © 2017 IMSS. Published by Elsevier Inc. All rights reserved.

  4. Study of association between polymorphisms in the PSMB5 (rs11543947 and PSMA3 (rs2348071 genes and multiple sclerosis in Latvians

    Directory of Open Access Journals (Sweden)

    Kalnina J.

    2014-07-01

    Full Text Available Functional realization of many signalling proteins and transcription factors implicated in the development and progression of multiple sclerosis is mediated by proteasomes. Aim of this case-control study was to evaluate genetic variations in the PSMB5 and PSMA3 genes encoding proteasomal subunits on the susceptibility to multiple sclerosis in Latvians. Methods. The rs11543947 (PSMB5 and rs2348071 (PSMA3 loci were genotyped in 291 multiple sclerosis patients and 305 healthy individuals and analysed general, subtype and sex-specific associations with the disease. Results. Loci rs11543947 and rs2348071 were identified as disease neutral and susceptible respectively. The rs2348071 heterozygous genotype GA showed strong main effect (P < 0.001; OR = 1.891, 95 % CI [1.360–2.628], and moderate (P < 0.01; OR = 1.663, 95 % CI [1.152– 2.402] and strong (P < 0.001; OR = 2.459, 95 % CI [1.534–3.943] association with relapsing-remitting and secondary progressive phases of disease respectively. No genotype-sex interaction associated with multiple sclerosis has been detected. Conclusions. Our results suggest susceptibility of the rs2348071 heterozygous genotype to multiple sclerosis in Latvians.

  5. Diagnosis of the retail flower market of Santa Maria, RS

    Directory of Open Access Journals (Sweden)

    Janine Farias Menegaes

    2015-12-01

    Full Text Available The present study aimed to diagnose the flowers retail market and ornamental plants in Santa Maria, RS, Brazil, by means of a research in loco, from January to June of 2013, based on questionnaires and interviews applied to the managers of the establishment, as well as of an application of a visual and phytosanitary scale to other establishments that sell flowers and ornamental plants, such as agricultural shops, fairs of horticultural products, supermarkets and providers of funeral services - cemeteries and funeral homes. The diagnosis aims to know the steps of the dynamics observed from the market of flowers until the final consumer, and to segment the types of floricultures, distinguishing them according to the commercial focus — floricultures of arrangements and bouquets, and producing flowers and landscape floricultures. Based on the diagnosis it can be concluded that the Santa Maria retail flowers and ornamental plants follows the national trend of floral arrangements and bouquets shops, with the increase of the companies focused on landscaping and gardening. Among the most marketed plants are the rose as the best-selling cut flower, the begonia as potted flower, the fern for foliage arrangements, the cactus as potted plant, the raffia as garden plant and the pansy as the best-selling plant in boxes.

  6. Water quality assessment of the Sinos River - RS, Brazil.

    Science.gov (United States)

    Steffens, C; Klauck, C R; Benvenuti, T; Silva, L B; Rodrigues, M A S

    2015-12-01

    Worldwide environmental pollution is increasing at the same rate as social and economic development. This growth, however, is disorganized and leads to increased degradation of water resources. Water, which was once considered inexhaustible, has become the focus of environmental concerns because it is essential for life and for many production processes. This article describes monitoring of the water quality at three points along the Sinos River (RS, Brazil), one in each of the upper, middle and lower stretches. The points were sampled in 2013 and again in 2014. The water samples were analyzed to determine the following physical and chemical parameters plus genotoxicity to fish: metals (Cr, Fe, Al), chemical oxygen demand, biochemical oxygen demand, chlorides, conductivity, total suspended solids, total phosphorous, total and fecal coliforms, pH, dissolved oxygen, turbidity, total Kjeldahl nitrogen nitrate and ammoniacal nitrogen. Genotoxicity was tested by exposing individuals of the species Astyanax jacuhiensis to water samples and then comparing them with a control group exposed to water from the public water supply. The results confirmed the presence of substances with genotoxic potential at the sample points located in the middle and lower stretches of the river. The results for samples from the upper stretch, at P1, did not exhibit differences in relation to the control group. The physical and chemical analyses did not detect reductions in water quality in the lower stretch, as had been expected in view of the large volumes of domestic and industrial effluents discharged into this part of the river.

  7. Water quality assessment of the Sinos River – RS, Brazil

    Directory of Open Access Journals (Sweden)

    C. Steffens

    Full Text Available Worldwide environmental pollution is increasing at the same rate as social and economic development. This growth, however, is disorganized and leads to increased degradation of water resources. Water, which was once considered inexhaustible, has become the focus of environmental concerns because it is essential for life and for many production processes. This article describes monitoring of the water quality at three points along the Sinos River (RS, Brazil, one in each of the upper, middle and lower stretches. The points were sampled in 2013 and again in 2014. The water samples were analyzed to determine the following physical and chemical parameters plus genotoxicity to fish: metals (Cr, Fe, Al, chemical oxygen demand, biochemical oxygen demand, chlorides, conductivity, total suspended solids, total phosphorous, total and fecal coliforms, pH, dissolved oxygen, turbidity, total Kjeldahl nitrogen nitrate and ammoniacal nitrogen. Genotoxicity was tested by exposing individuals of the species Astyanax jacuhiensis to water samples and then comparing them with a control group exposed to water from the public water supply. The results confirmed the presence of substances with genotoxic potential at the sample points located in the middle and lower stretches of the river. The results for samples from the upper stretch, at P1, did not exhibit differences in relation to the control group. The physical and chemical analyses did not detect reductions in water quality in the lower stretch, as had been expected in view of the large volumes of domestic and industrial effluents discharged into this part of the river.

  8. Pentatomids associated with different forest species in Itaara, RS, Brazil

    Directory of Open Access Journals (Sweden)

    Ervandil Corrêa Costa

    2010-03-01

    Full Text Available The objective of this study was to determine qualitatively and quantitatively the pentatomid fauna associated with the canopy of different native species during the period from September 2005 to September 2006. Insects were collected from among nine botanical species: Gochnatia polymorpha (Less. (cambará, Eugenia uniflora Berg. (pitangueira, Acca selowiana (Berg Burret (goiaba-da-serra, Psidium cattleianum Sabine (araçá, Baccharis spp., Solanaum mauritianum Scop. (fumo-bravo, Micanea cinerascens Miq. (passiquinho, Calliandra brevipes Bhent. (caliandra, and Schinus molle L. (aroeira located at Rodolfo da Costa Dam in Itaara, RS, Brazil. Samples were taken every two weeks with a conical funnel made of tin plate (2mm, 70cm in diameter at the rim and 63cm in height. One sample per botanical species for each sampling date was taken, by shaking the branches, ten times over the funnel. Samples were sent to the Entomology Laboratory of the Crop Protection Department of the Federal University of Santa Maria, where the material was analyzed. A total of nine Pentatomidae species were identified. Edessa rufomarginata (De Geer, 1773 was the species of highest ocurrence followed by Thyanta humilis (Bergroth, 1891. The botanical species S. mauritianum presented the greatest number of Pentatomidae species, with an occurrence of 26.9%.

  9. Stress-responsive gene RsICE1 from Raphanus sativus increases cold tolerance in rice.

    Science.gov (United States)

    Man, Lili; Xiang, Dianjun; Wang, Lina; Zhang, Weiwei; Wang, Xiaodong; Qi, Guochao

    2017-03-01

    The ICE1 transcription factor plays a critical role in plant cold tolerance via triggering CBF/DREB1 cold-regulated signal networks. In this work, a novel MYC-type ICE1-like gene, RsICE1, was isolated from radish (Raphanus sativus L.), and its function in cold tolerance was characterized in rice. The RsICE1 gene was expressed constitutively with higher transcriptional levels in the roots and stems of radish seedlings. The NaCl, cold, and ABA treatments could significantly upregulate RsICE1 expression levels, but dehydration stress had a weak effect on its expression. Ectopic expression of the RsICE1 gene in rice conferred enhanced tolerance to low-temperature stress grounded on a higher survival rate, higher accumulation of soluble sugars and free proline content, a decline in electrolyte leakage and MDA levels, and higher chlorophyll levels relative to control plants. OsDREBL and OsTPP1, downstream cold-regulated genes, were remarkably upregulated at transcription levels in rice overexpressing RsICE1 under low-temperature stress, which indicated that RsICE1 was involved in CBF/DREB1 cold-regulated signal networks. Overall, the above data showed that RsICE1 played an active role in improving rice cold tolerance, most likely resulting from the upregulation of OsDREBL and OsTPP1 expression levels by interacting with the RsICE1 gene under low-temperature stress.

  10. Association between BDNF-rs6265 and obesity in the Boston Puerto Rican Health Study

    Science.gov (United States)

    The objective of this study is to examine a functional variant (rs6265) in the BDNF gene interacting with dietary intake modulate obesity traits in the Boston Puerto Rican Health Study population. BDNF rs6265 was genotyped in 1147 Puerto Ricans (aged 45-75 years), and examined for association with o...

  11. Contribution of rs11465788 in IL23R gene to Crohn's disease ...

    Indian Academy of Sciences (India)

    Gly149Arg, c.445G>A) and 35 single nucleotide polymorphisms (SNPs) were identified. Among them, only rs11465788 was implicated in CD susceptibility (P = 4.9 × 10-4, OR = 0.30). Genotype–phenotypic interaction analysis showed that rs11465788 is associated with nonstricturing and nonpenetrating disease behaviour ...

  12. Analysis of the serotonin transporter promoter rs25531 polymorphism in premenstrual dysphoric disorder.

    Science.gov (United States)

    Magnay, Julia L; El-Shourbagy, Maged; Fryer, Anthony A; O'Brien, Shaughn; Ismail, Khaled M K

    2010-08-01

    The objective of this study was to investigate whether the functional rs25531 promoter polymorphism in the serotonin transporter gene is associated with premenstrual dysphoric disorder. The study sample comprised 53 women with clinically diagnosed premenstrual dysphoric disorder (age range, 27-46 years; mean, 37.7 years) and 52 healthy control subjects (age range, 22-48 years; mean, 36.2 years). The rs25531 polymorphism was genotyped in both groups. Because of its close proximity to rs25531, the 5-HTTLPR promoter polymorphism was also genotyped. Genotype and allele frequencies for rs25531 and for the composite 5-HTTLPR/rs25531 marker were analyzed by chi(2) test. There was no significant association between any genotype and clinical category and no significant allele distribution profiles for rs25531 or 5-HTTLPR/rs25531 in either the premenstrual dysphoric disorder or the control groups. These findings do not support a major role for rs25531, either in isolation or combined with 5-HTTLPR, in contributing to susceptibility to premenstrual dysphoria. Copyright (c) 2010 Mosby, Inc. All rights reserved.

  13. Polymorphism of glucagon-like peptide-1 receptor gene (rs1042044 ...

    African Journals Online (AJOL)

    patience

    2015-02-16

    Feb 16, 2015 ... turnover via GLP-1 receptors (GLP1Rs) in postmenopausal state. Furthermore, polymorphisms in. GLP1R gene were suggested to affect the function of GLP1Rs and be associated with many diseases. However, the relationships between GLP1R polymorphisms and osteoporosis susceptibility and bone.

  14. Lack of association between rs10491334 in the CAMK4 gene and ...

    Indian Academy of Sciences (India)

    effects of rs10491334 on human longevity in other popu- lations. Therefore, this work is aimed to provide .... ified analyses by sex and did not observe positive effect of rs10491334 in women or men (data not shown), ... and haplotypic variances may lead to a genuine reversal of genetic effect (Lin et al. 2007; Zaykin and ...

  15. Association of IL-1α rs17561 and IL-1 RN rs315952 polymorphisms with Tourette syndrome: a family-based study.

    Science.gov (United States)

    He, Fan; Shao, Xiaohui; Yi, Mingji; Wang, Yu; Wang, Chuan-Yue; Liu, Shiguo

    2015-01-01

    Immune system dysregulation has been implicated to play a key role in pathogenesis of Tourette syndrome (TS). IL-1α and IL-1RN are important inflammatory cytokines that mediate the inflammation. In this study, we investigated the relationship between single-nucleotide polymorphisms (SNPs) of IL-1α and IL-1RN and the susceptibility to TS in Chinese Han population. A total of 276 children with TS and their parents were recruited in the study. All DNA from our subjects were genotyped for SNPs of IL-1α rs17561 and IL-1RN rs315952 using predesigned TaqMan SNP genotyping assay. The genetic contributions of two polymorphisms were evaluated using transmission disequilibrium test (TDT) and haplotype relative risk (HRR) design. In addition, to increase the efficiency of the test, the haplotype-based HRR (HHRR) was performed. No significant differences were observed in allelic and genotypic frequency of rs17561 in IL-1α and rs315952 in IL-1RN between the transmitted group and non-transmitted group (for IL-1α rs17561: TDT=0.890, df=1, P=0.402; HRR=1.011, X(2)=3.016, P=0.082, 95% CI=0.999-1.024; for IL-1RN rs315952: TDT=0.095, df=1, P=0.805; HRR=0.984, X(2)=0.008, P=0.929, 95% CI=0.695-1.394). Similarly, the analysis of HHRR also did not support a significant association (for IL-1α rs17561: HHRR=1.226, X(2)=0.915, P=0.339, 95% CI=0.807-1.863; for IL-1RN rs315952: HHRR=0.963, X(2)=0.094, P=0.759, 95% CI=0.758-1.225). Our results suggest that IL-1α rs17561 and IL-1RN rs315952 polymorphisms may not be associated with susceptibility to TS in Chinese Han population. However, the results still need to be replicated in a larger sample size and different populations.

  16. Association of polymorphisms of rs179247 and rs12101255 in thyroid stimulating hormone receptor intron 1 with an increased risk of Graves' disease: A meta-analysis.

    Science.gov (United States)

    Gong, Jing; Jiang, Shu-Jun; Wang, Ding-Kun; Dong, Hui; Chen, Guang; Fang, Ke; Cui, Jin-Rui; Lu, Fu-Er

    2016-08-01

    The polymorphisms of thyroid stimulating hormone receptor (TSHR) intron 1 rs179247 and rs12101255 have been found to be associated with Graves' disease (GD) in genetic studies. In the present study, we conducted a meta-analysis to examine this association. Two reviewers systematically searched eligible studies in PubMed, Web of Science, Embase and China Biomedical Literature Database (CBM). A meta-analysis on the association between GD and TSHR intron 1 rs179247 or rs12101255 was performed. The odd ratios (OR) were estimated with 95% confidence interval (CI). Meta package in R was used for the analyses. Seven articles (13 studies) published between 2009 and 2014, involving 5754 GD patients and 5768 controls, were analyzed. The polymorphism of rs179247 was found to be associated with an increased GD risk in the allele analysis (A vs. G: OR=1.40, 95% CI=1.33-1.48) and all genetic models (AA vs. GG: OR=1.94, 95% CI=1.73-2.19; AA+AG vs. GG: OR=1.57, 95% CI=1.41-1.74; AA vs. AG+GG: OR=1.54, 95% CI=1.43-1.66). The site rs12101255 also conferred a risk of GD in the allele analysis (T vs. C: OR=1.50, 95% CI=1.40-1.60) and all genetic models (TT vs. CC: OR=2.22, 95% CI=1.92-2.57; TT+TC vs. CC: OR=1.66, 95% CI=1.50-1.83; TT vs. TC+CC: OR=1.74, 95% CI=1.53-1.98). Analysis of the relationship between rs179247 and Graves' ophthalmopathy (GO) showed no statistically significant correlation (A vs. G: OR=1.02, 95% CI=0.97-1.07). Publication bias was not significant. In conclusion, GD is associated with polymorphisms of TSHR intron 1 rs179247 and rs12101255. There is no association between rs179247 SNPs and GO.

  17. The ARIES-RS power core -- Recent development in Li/V designs

    Energy Technology Data Exchange (ETDEWEB)

    Sze, D.K.; Billone, M.C.; Hua, T.Q. [and others

    1997-04-01

    The ARIES-RS fusion power plant design study is based on reversed-shear (RS) physics with a Li/V (lithium breeder and vanadium structure) blanket. The reversed-shear discharge has been documented in many large tokamak experiments. The plasma in the RS mode has a high beta, low current, and low current drive requirements. Therefore, it is an attractive physics regime for a fusion power plant. The blanket system based on a Li/V has high temperature operating capability, good tritium breeding, excellent high heat flux removal capability, long structural life time, low activation, low after heat and good safety characteristics. For these reasons, the ARIES-RS reactor study selected Li/V as the reference blanket. The combination of attractive physics and attractive blanket engineering is expected to result in a superior power plant design. This paper summarizes the power core design of the ARIES-RS power plant study.

  18. Susan G. Komen for the Cure

    Science.gov (United States)

    ... de sus senos:Consejos útiles para mujeres El Cancer de Mama y el Medio Ambiente: Preguntas y Respuestas Guía de herramientas de educación sobre el cancer de seno para comunidades hispanas/Latinas About Us ...

  19. Entretien avec Susan Holtz | IDRC - International Development ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Au seuil du prochain millénaire, le développement planétaire durable pose des défis complexes et d'envergure. Partout dans le monde, on cherche à relever ces défis en intégrant les politiques environnementales, sociales et économiques.

  20. Genetic Association of CHAT rs3810950 and rs2177369 Polymorphisms with the Risk of Alzheimer’s Disease: A Meta-Analysis

    Directory of Open Access Journals (Sweden)

    Yong Liu

    2016-01-01

    Full Text Available Choline acetyltransferase (CHAT rs3810950 and rs2177369 polymorphisms have been implicated in susceptibility to Alzheimer’s disease (AD. Due to the inconsistent results from previous studies, a meta-analysis was performed to estimate the association between these polymorphisms and AD risk more precisely. Pooled results of our meta-analysis indicated CHAT rs2177369 polymorphism was correlated with decreasing AD risk in one of five genetic models (dominant: OR = 0.77, 95% CI: 0.62–0.96, while rs3810950 mutant was associated with AD development in three models (allelic: OR = 1.18, 95% CI: 1.01–1.37, homozygous: OR = 1.63, 95% CI: 1.09–2.42, and recessive: OR = 1.65, 95% CI: 1.20–2.26. In subgroup analysis by ethnicity, the association between CHAT rs3810950 polymorphism and AD risk was just found in the recessive model (OR = 1.47, 95% CI: 1.05–2.07 among Caucasians, while four genetic models (allelic: OR = 1.23, 95% CI: 1.01–1.48; homozygous: OR = 2.24, 95% CI: 1.48–3.39; dominant: OR = 1.21, 95% CI: 1.06–1.40; and recessive: OR = 2.18, 95% CI: 1.45–3.29 assumed this association in Asians. In conclusion, our meta-analysis indicated CHAT rs2177369 polymorphism might play a protective role in AD, while rs3810950 variant was a risk factor for AD but its single heterozygous mutations might not influence susceptibility to AD.

  1. Association analysis of rs1049255 and rs4673 transitions in p22phox gene with coronary artery disease: A case-control study and a computational analysis.

    Science.gov (United States)

    Mazaheri, M; Karimian, M; Behjati, M; Raygan, F; Hosseinzadeh Colagar, A

    2017-11-01

    The p22phox gene encodes the main subunit of NADH/NADPH-oxidase. This enzyme is expressed in smooth muscle cells of arteries, and it produces the reactive oxygen species. On the other hand, oxidative stress plays a main role in the pathogenesis of coronary artery disease (CAD). The aim of this study is to evaluate the association between rs4673 and rs1049255 polymorphisms of p22phox gene with CAD in an Iranian population which was followed with a computational analysis approach. In a cross-sectional study, we collected blood samples of 302 Iranian Caucasian including 143 patients and 159 healthy controls. Genotype of the polymorphisms was detected through PCR-RFLP method. A computational analysis was also performed using SNAP, Polyphen-2, Chou-Fasman, RNAsnp, and miRNA SNP databases. Data of case control study demonstrated that CT genotype (R = 1.84, 95% CI = 1.13-3.00, p = 0.014) and T allele (OR = 1.53, 95% CI = 1.09-2.15, p = 0.013) of rs4673 polymorphism, have a significant association with enhanced risk of CAD. But rs1049255 analysis demonstrated the absence of such an association with CAD. Indeed, in silico data analysis demonstrated that rs4673 transition could impact on function of p22phox protein (SNAP score 56, expected accuracy 75%; Polyphen-2 score 0.99, sensitivity 0.09, specificity 0.99). Data derived from miRNA SNP database demonstrated that rs1049255 polymorphism increases the affinity of attachment between has-miR-3689a-3b with 3'-UTR of p22phox gene. Our data demonstrated that rs4673 transition may be involved in susceptibility to CAD and could be applied as a potential biomarker for this disease.

  2. Association of IL28B SNPs rs12979860 and rs8099917 on Hepatitis C Virus-RNA Status in Donors/Recipients of Living Donor Liver Transplantation.

    Directory of Open Access Journals (Sweden)

    King-Wah Chiu

    Full Text Available To investigate the effect of IL28B single nucleotide polymorphisms (SNPs (rs8099917 and rs12979860 in the donors and recipients on the outcome of Hepatitis C virus-RNA clearance after living donor liver transplantation (LDLT. The rs8099917 and rs12979860 genotypes in 50 donor and recipients pairs were explored on the pre-operative day (POD and post-operative day 30 (POD30. There was a significant difference in HCV-RNA clearance before (12%, 6/50 and after (48%, 24/50 liver transplantation (P < 0.001. The rs8099917 genotype TT was dominant in both the recipients (82%, 41/50 and donors (86%, 43/50, but had no significant effect on HCV-RNA clearance (87.5%, 21/24 and recurrence (76.9%, 20/26 after LDLT. One recipient was detected with genotype GG on POD, which changed to genotype GT on POD30. Prevalence of rs12979860 genotype CT was 98% (49/50 recipient and 92% (46/50 donor and prevalence of genotype CC was 2% (1/50 recipient and 8% (4/50 donor on POD and POD30, respectively. Of the 4 recipients with rs12979860 genotype CC on POD30, 3 recipients (12.5%, 3/24 exhibited HCV clearance and 1 experienced recurrence (3.9%, 1/26, however, this was not statistically significant. In conclusion, alterations in IL28B SNP genotype may occur after LDLT, leading to modifications in the host genome or donor proteome by HCV. This predicted mechanism will need to be investigated further.

  3. Relationships between FTO rs9939609, MC4R rs17782313, and PPARγ rs1801282 polymorphisms and the occurrence of selected metabolic and hormonal disorders in middle-aged and elderly men – a preliminary study

    Directory of Open Access Journals (Sweden)

    Rotter I

    2016-11-01

    Full Text Available Iwona Rotter,1 Karolina Skonieczna-Żydecka,2 Danuta Kosik-Bogacka,3 Grażyna Adler,2 Aleksandra Rył,4 Maria Laszczyńska4 1Department of Medical Rehabilitation, 2Department of Gerontobiology, 3Department of Biology and Medical Parasitology, 4Department of Histology and Developmental Biology, Pomeranian Medical University, Szczecin, Poland Purpose: Metabolic disorders, including MetS, obesity, and lipid disorders, may be related to genetic factors. Metabolic disorders are associated with decreased TS levels in aging men. The aim of this study was to evaluate the relationship between FTO rs9939609, MC4R rs17782313, and PPARɣ rs1801282 polymorphisms and the presence of MetS and its components, the concurrent lipid disorders, as well as sex hormone concentrations. Subjects and methods: This study involved 272 men of Caucasian descent aged 50–75 years. Lipid profile, including TCh, LDL, HDL, and TG, was evaluated by spectrophotometric method. Anthropometric measurements concerned WC and blood pressure. MetS was diagnosed according to the criteria of the IDF. Sex hormone profile, including TST, FTS, E2, DHEAS, and SHBG, was examined using enzyme-linked immunosorbent assay. Polymorphisms within FTO, MC4R, and PPARɣ genes were identified using polymerase chain reaction-restriction fragments length polymorphism. Results: This study did not show links between the analyzed genetic polymorphisms and the presence of MetS, T2DM, HT, and obesity. However, higher concentrations of TCh and LDL were found in men with the FTO rs9939609 polymorphism in the recessive mode of inheritance (P=0.03 and P=0.05, respectively. Lower WC was found to be associated with MC4R rs17782313 gene inherited in the same model (P=0.005. Conclusion: FTO rs9939609, MC4R rs17782313, and PPARɣ rs1801282 polymorphisms seem to have little effect on the incidence of metabolic malfunctions and no effect on androgen-related disorders in the examined middle-aged and elderly men

  4. Vertebrados silvestres atropelados na BR 158, RS, Brasil

    Directory of Open Access Journals (Sweden)

    Daniela da Silva Oliveira

    2012-09-01

    Full Text Available http://dx.doi.org/10.5007/2175-7925.2012v25n4p229   Entre os problemas que ameaçam a fauna silvestre, o atropelamento de animais é uma importante causa de mortalidade para várias espécies. O presente estudo visou identificar as espécies vitimadas por atropelamento em 98km da rodovia BR 158, entre o município de Cruz Alta e o distrito de Val de Serra, município de Júlio de Castilhos, RS e analisar as variações mensais nas taxas de atropelamento e sua correlação com o volume mensal de chuvas. Foram realizadas expedições mensais, entre os meses de abril a setembro de 2007, onde se registrou 61 animais atropelados pertencentes a 15 espécies, com uma taxa de atropelamento de 0,10 ind./km/mês. As espécies com maior número de atropelamentos foram o zorrilho (Conepatus chinga, com 17 indivíduos (28%, seguida pelo graxaim-do-campo (Lycalopex gymnocercus, com sete (11% e o graxaim-do-mato (Cerdocyon thous, com cinco (8%. Não foi encontrada diferença nas taxas de atropelamento entre os meses amostrados, contudo, o mês com maior registro de atropelamentos foi setembro (n=18. Também não foi verificada correlação entre os atropelamentos e a precipitação mensal, no entanto, há uma tendência entre a ocorrência dos atropelamentos com um volume maior de chuvas.

  5. The rs1024611 regulatory region polymorphism is associated with CCL2 allelic expression imbalance.

    Directory of Open Access Journals (Sweden)

    Minh-Hieu T Pham

    Full Text Available CC chemokine ligand 2 (CCL2 is the most potent monocyte chemoattractant and inter-individual differences in its expression level have been associated with genetic variants mapping to the cis-regulatory regions of the gene. An A to G polymorphism in the CCL2 enhancer region at position -2578 (rs1024611; A>G, was found in most studies to be associated with higher serum CCL2 levels and increased susceptibility to a variety of diseases such as HIV-1 associated neurological disorders, tuberculosis, and atherosclerosis. However, the precise mechanism by which rs1024611influences CCL2 expression is not known. To address this knowledge gap, we tested the hypothesis that rs1024611G polymorphism is associated with allelic expression imbalance (AEI of CCL2. We used haplotype analysis and identified a transcribed SNP in the 3'UTR (rs13900; C>T can serve as a proxy for the rs1024611 and demonstrated that the rs1024611G allele displayed a perfect linkage disequilibrium with rs13900T allele. Allele-specific transcript quantification in lipopolysaccharide treated PBMCs obtained from heterozygous donors showed that rs13900T allele were expressed at higher levels when compared to rs13900C allele in all the donors examined suggesting that CCL2 is subjected to AEI and that that the allele containing rs1024611G is preferentially transcribed. We also found that AEI of CCL2 is a stable trait and could be detected in newly synthesized RNA. In contrast to these in vivo findings, in vitro assays with haplotype-specific reporter constructs indicated that the haplotype bearing rs1024611G had a lower or similar transcriptional activity when compared to the haplotype containing rs1024611A. This discordance between the in vivo and in vitro expression studies suggests that the CCL2 regulatory region polymorphisms may be functioning in a complex and context-dependent manner. In summary, our studies provide strong functional evidence and a rational explanation for the phenotypic

  6. Association of ADORA1 rs2228079 and ADORA2A rs5751876 Polymorphisms with Gilles de la Tourette Syndrome in the Polish Population.

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    Piotr Janik

    Full Text Available Gilles de la Tourette syndrome (GTS is a neurodevelopmental disorder characterized by motor and vocal tics. Hyperactivity of dopaminergic transmission is considered a prime abnormality in the pathophysiology of tics. There are reciprocal antagonistic interactions between adenosine and dopamine transmission. The aim of the study was to analyze the association of two polymorphisms, rs2228079 in ADORA1 and rs5751876 in ADORA2A, with the risk of GTS and co-morbid disorders.A total of 162 Polish GTS patients and 270 healthy persons were enrolled in the study. Two polymorphisms were selected on the basis of knowledge of SNPs frequencies in ADORA1 and ADORA2A. Chi-square test was used for allelic and genotypic association studies. Association of genotypes with age of tic onset was analyzed with Mann-Whitney test. Multivariate logistic regression was used to find independent predictors of GTS risk.We found that the risk of GTS was associated with rs2228079 and rs5751876 polymorphisms. The GG+GT genotypes of rs2228079 in ADORA1 were underrepresented in GTS patients (p = 0.011, whereas T allele of rs5751876 in ADORA2A was overrepresented (p = 0.017. The GG genotype of rs2228079 was associated with earlier age of tic onset (p = 0.046. We found also that the minor allele G of rs2228079 was more frequent in GTS patients with depression as compared to the patients without depression (p = 0.015. Also the genotype GG was significantly more frequent in patients with obsessive compulsive disorder/behavior (OCD/OCB, p = 0.021 and depression (p = 0.032, as compared to the patients without these co-morbidities. The minor allele T frequency of rs5751876 was lower in GTS patients with co-morbid attention deficit hyperactivity disorder (p = 0.022, and TT+TC genotypes were less frequent in the non-OCD anxiety disorder group (p = 0.045.ADORA1 and ADORA2A variants are associated with the risk of GTS, co-morbid disorders, and may affect the age of tic onset.

  7. A Radish Basic Helix-Loop-Helix Transcription Factor, RsTT8 Acts a Positive Regulator for Anthocyanin Biosynthesis

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    Sun-Hyung Lim

    2017-11-01

    Full Text Available The MYB-bHLH-WDR (MBW complex activates anthocyanin biosynthesis through the transcriptional regulation. RsMYB1 has been identified as a key player in anthocyanin biosynthesis in red radish (Raphanus sativus L., but its partner bHLH transcription factor (TF remains to be determined. In this study, we isolated a bHLH TF gene from red radish. Phylogenetic analysis indicated that this gene belongs to the TT8 clade of the IIIF subgroup of bHLH TFs, and we thus designated this gene RsTT8. Subcellular localization analysis showed that RsTT8-sGFP was localized to the nuclei of Arabidopsis thaliana protoplasts harboring the RsTT8-sGFP construct. We evaluated anthocyanin biosynthesis and RsTT8 expression levels in three radish varieties (N, C, and D that display different red phenotypes in the leaves, root flesh, and root skins. The root flesh of the C variety and the leaves and skins of the D variety exhibit intense red pigmentation; in these tissues, RsTT8 expression showed totally positive association with the expression of RsMYB1 TF and of five of eight tested anthocyanin biosynthesis genes (i.e., RsCHS, RsCHI, RsF3H, RsDFR, and RsANS. Heterologous co-expression of both RsTT8 and RsMYB1 in tobacco leaves dramatically increased the expression of endogenous anthocyanin biosynthesis genes and anthocyanin accumulation. Furthermore, a yeast two-hybrid assay showed that RsTT8 interacts with RsMYB1 at the MYB-interacting region (MIR, and a transient transactivation assay indicated that RsTT8 activates the RsCHS and RsDFR promoters when co-expressed with RsMYB1. Complementation of the Arabidopsis tt8-1 mutant, which lacks red pigmentation in the leaves and seeds, with RsTT8 restored red pigmentation, and resulted in high anthocyanin and proanthocyanidin contents in the leaves and seeds, respectively. Together, these results show that RsTT8 functions as a regulatory partner with RsMYB1 during anthocyanin biosynthesis.

  8. Miscibility and interactions between 17beta-estradiol and Eudragit RS in solid dispersion.

    Science.gov (United States)

    Wiranidchapong, Chutima; Tucker, Ian G; Rades, Thomas; Kulvanich, Poj

    2008-11-01

    Miscibility of 17beta-estradiol and Eudragit RS in solid dispersions was determined by modulated temperature differential scanning calorimetry (MTDSC). A reduction of the 17beta-estradiol melting point in Eudragit RS solid dispersions was observed by MTDSC using heating program I in which the maximum temperature in the first heating run was lower than the 17beta-estradiol melting point. The melting point depression of 17beta-estradiol in solid dispersions as a function of composition could be explained by the Nishi-Wang equation indicating an interaction between 17beta-estradiol and Eudragit RS in the system. A variation of glass transition temperature (T(g)) of 17beta-estradiol in Eudragit RS solid dispersion was observed by MTDSC using heating program II in which the maximum temperature in the first heating run reached the 17beta-estradiol melting point. In the second heating run of heating program II, 17beta-estradiol was in an amorphous form blended with Eudragit RS. The variation in T(g) of amorphous 17beta-estradiol blended with Eudragit RS could be explained by the Kwei equation, a modified version of the Gordon-Taylor equation. The parameter estimates from the Kwei equation were consistent with an interaction between 17beta-estradiol and Eudragit RS, which was due to inter-associated hydrogen bonding as deduced from the FTIR spectra of the blends.

  9. CDH1 rs9929218 variant at 16q22.1 contributes to colorectal cancer susceptibility

    Science.gov (United States)

    Han, Peng; Liu, Guiyou; Lu, Xin; Cao, Minmin; Yan, Youling; Zou, Jing; Li, Xiaobo; Wang, Guangyu

    2016-01-01

    Colorectal cancer (CRC) is the third most common cancer. Large-scale genome-wide association studies (GWAS) have been performed and reported some novel CRC susceptibility variants in European ancestry including the CDH1 rs9929218. Following GWAS and candidate studies evaluated the association between the CDH1 rs9929218 polymorphism and CRC in European, Asian and American populations. However, these studies reported inconsistent associations. Evidence shows that rs9929218 may regulate different gene expressions in different human tissues. Here, we reevaluated this association using large-scale samples from 16 studies (n=131768) using a meta-analysis method. In heterogeneity test, we did not identify significant heterogeneity among these studies. Meta-analysis using fixed effect model showed significant association between rs9929218 and CRC (P=6.16E-21, odds ratio (OR) =0.92, 95% confidence interval (CI) 0.91-0.94). In order to validate the effect of rs9929218 variant on CDH1 expression, we further performed a functional analysis using two large-scale expression datasets. We identified significant regulation relation between rs9929218 variant and the expression of CDH1, ZFP90, RP11-354M1.2 and MCOLN2 by both cis-effect and trans-effect. In summary, our analysis highlights significant association between rs9929218 polymorphism and CRC susceptibility. PMID:27259261

  10. Lack of association between PKLR rs3020781 and NOS1AP rs7538490 and type 2 diabetes, overweight, obesity and related metabolic phenotypes in a Danish large-scale study: case-control studies and analyses of quantitative traits

    DEFF Research Database (Denmark)

    Andreasen, Camilla Helene; Mogensen, Mette S.; Borch-Johnsen, Knut

    2008-01-01

    ,367, nNOS1AP = 8,435). RESULTS: In case-control studies we evaluated the potential association between rs3020781 and rs7538490 and type 2 diabetes and obesity. No significant associations were observed for type 2 diabetes (rs3020781: pAF = 0.49, OR = 1.02 [0.96-1.10]; rs7538490: pAF = 0.84, OR = 0.99 [0...

  11. The CHRNA3 rs578776 variant is associated with an intrinsic reward sensitivity deficit in smokers

    Directory of Open Access Journals (Sweden)

    Jason D. Robinson

    2013-09-01

    Full Text Available A compromised brain reward system has been postulated as a key feature of drug dependence. We examined whether several polymorphisms of genes found to regulate nicotinic acetylcholine receptor (nAChR and dopamine (DA expression were related to an intrinsic reward sensitivity (IRS deficit we previously identified among a subgroup of smokers using event-related potentials (ERPs. We examined genetic polymorphisms within the CHRNA5-A3-B4 gene cluster (CHRNA3 rs578776, CHRNA5 rs16969968, LOC123688 rs8034191, and CHRNA3 rs1051730, the ANKK1 gene (rs1800497, and the D2 receptor gene (DRD2 rs1079597, DRD2 rs1799732 from 104 smokers of European ancestry in a smoking cessation trial. Prior to treatment, we recorded ERPs evoked by emotional (both pleasant and unpleasant, neutral, and cigarette-related pictures. Smokers were assigned to two groups (IRS+/IRS- based on the amplitude of the late positive potential (LPP component to the pictures, a neural marker of motivational salience. Smokers (n = 42 with blunted brain responses to intrinsically rewarding (pleasant pictures and enhanced responses to cigarette pictures were assigned to the IRS- group, while smokers (n = 62 with the opposite pattern of LPP responding were assigned to the IRS+ group. Carriers of the protective minor T allele (T/T, C/T of the CHRNA3 rs578776 were less likely to be members of the IRS- group than those homozygous for the at-risk C allele (C/C. The CHRNA3 rs578776 polymorphism did not differ on questionnaires of nicotine dependence, depressed mood, or trait affective disposition and did not predict abstinence at 6 months after the quit date. These results suggest that polymorphisms of genes influencing nAChR expression are related to an endophenotype of reward sensitivity in smokers.

  12. Contribution of TIMP4 rs3755724 polymorphism to susceptibility to focal epilepsy in Malaysian Chinese.

    Science.gov (United States)

    Haerian, Batoul Sadat; Sha'ari, Hidayati Mohd; Fong, Choong Yi; Tan, Hui Jan; Wong, Sau Wei; Ong, Lai Choo; Raymond, Azman Ali; Tan, Chong Tin; Mohamed, Zahurin

    2015-01-15

    Neuroinflammation can damage the brain and plays a critical role in the pathophysiology of epilepsy. Tissue inhibitor of metalloproteinase 4 (TIMP4) is an inflammation-induced apoptosis and matrix turnover factor involved in several neuronal disorders and inflammatory diseases. Evidence has shown linkage disequilibrium between rs3755724 (-55C/T) of this gene with synapsin 2 (SYN2) rs3773364 and peroxisome proliferator-activated G receptor (PPARG) rs2920502 loci, which contribute to epilepsy in Caucasians. The aim of this study was to examine the association of these loci alone or their haplotypes with the risk of epilepsy in the Malaysian population. Genomic DNA of 1241 Malaysian Chinese, Indian, and Malay subjects (670 patients with epilepsy and 571 healthy individuals) was genotyped for the candidate loci by using the Sequenom MassArray method. Allele and genotype association of rs3755724 with susceptibility to epilepsy was significant in the Malaysian Chinese with focal epilepsy under codominant and dominant models (C vs. T: 1.5 (1.1-2.0), p=0.02; CT vs. TT: 1.8 (1.2-2.8), p=0.007 and 1.8 (1.2-2.7), p=0.006, respectively). The T allele and the TT genotype were more common in patients than in controls. No significant association was found between rs2920502 and rs3773364-rs3755724-rs2920502 haplotypes for susceptibility to epilepsy in each ethnicity. This study provides evidence that the promoter TIMP4 rs3755724 is a new focal epilepsy susceptibility variant that is plausibly involved in inflammation-induced seizures in Malaysian Chinese. Copyright © 2014 Elsevier B.V. All rights reserved.

  13. SLCO1B1 rs4149056 genetic polymorphism predicting methotrexate toxicity in Chinese patients with non-Hodgkin lymphoma.

    Science.gov (United States)

    Yang, Lin; Wu, Hui; Gelder, Teun van; Matic, Maja; Ruan, Jun-Shan; Han, Yong; Xie, Rui-Xiang

    2017-11-01

    To investigate the impact of polymorphisms in the FPGS, GGH and SLCO1B1 genes on high dose methotrexate (HD-MTX) related toxicity in Chinese patients with non-Hodgkin lymphoma (NHL). We analyzed FPGS (rs10106), GGH (rs719235, rs10464903, rs12681874), SLCO1B1 (rs4149056) genetic polymorphisms in 105 Chinese patients with NHL treated with HD-MTX. There was a statistically significant impact of the SLCO1B1 rs4149056 polymorphism on hepatotoxicity. Patients with TC and CC genotype had more hepatotoxicity than TT genotype (60 vs 32.94%, p = 0.025). After adjusting for disease stage, dosage, infusion time and therapy method, SLCO1B1 rs4149056 genotype remained significantly associated with hepatotoxicity (p = 0.028). SLCO1B1 rs4149056 genetic variants can affect the HD-MTX-related toxicity in Chinese patients with NHL.

  14. Polymorphisms in the IL-17 Gene (rs2275913 and rs763780) Are Associated with Hepatitis B Virus Infection in the Han Chinese Population.

    Science.gov (United States)

    Ren, Wei; Wu, Zehua; Ma, Ruixin; Liu, Zhen; Wang, Yingying; Wu, Liqun; Liu, Shiguo; Wang, Zusen

    2017-05-01

    Interleukin-17 (IL-17) can accelerate the release of many pro-inflammatory cytokines. The purpose of our study was to investigate the potential association between polymorphisms in the IL-17 gene and susceptibility to hepatitis B virus (HBV) infection in the Han Chinese population. We recruited 596 HBV-infected patients and 612 ethnically matched controls, who were then genotyped for the IL-17A and IL-17F polymorphisms, rs2275913 and rs763780, respectively, by using TaqMan probe-based real-time polymerase chain reaction. The frequencies of the alleles and genotypes in patients and controls were compared by the χ 2 test. Statistically significant differences in genotypic and allelic frequencies were revealed at both polymorphic sites between HBV-positive patients and controls (rs2275913: genotype χ 2  = 37.74, p IL-17 polymorphisms in relation to an enhanced risk of HBV infection.

  15. The Impact of rs3762271 and rs930557 Polymorphisms of ASPM and MCPH1 Genes on the Anatomy and Function of the Brain.

    Science.gov (United States)

    Pierzak-Sominka, Joanna; Skonieczna-Żydecka, Karolina; Rudnicki, Jacek; Karakiewicz, Beata

    2016-07-01

    The ASPM and MCPH1 genes are involved in early neurogenesis and are thus potential candidates for affecting the formation of the anatomical and functional characteristics of the brain. However, the results of studies to date have been conflicting, an issue for which the factor of ethnicity may be responsible. We aimed to examine whether the rs3762271 and rs930557 polymorphisms of these two genes can influence brain anatomy and function. We enrolled 97 Caucasian neonates, with males predominating (53.6%). The anatomy of the brain was examined using ultrasound, while Doppler ultrasound was used to establish the blood flow indices in particular brain blood vessels. Genetic analysis was carried out using the polymerase chain reaction-restriction fragment length polymorphism method. The CC and AA homozygotes of rs3762271 were more common in males. The CC genotype of rs3762271 was significantly associated with birth weight (pRE = .03) and body length (pRE = .02). One mutant allele of rs3762271 was significantly associated with higher values of maximum (Vmax, p = .04), minimum (Vmin, p = .04), and average (Vmean, p = .02) speed in the pericallosal artery in newborns of both genders. Similar relationships were found in females only (Vmax p = .03, Vmean p = .02). The CC genotype of rs930557 was more frequently observed in male infants, but no impact on any anthropometric indices or anatomical and functional parameters of the brain was established. The ASPM gene may play a role in shaping the functional parameters of the brain in Caucasians. © The Author(s) 2016.

  16. Vulnerabilidade Natural do Solo de Silveira Martins-RS

    Directory of Open Access Journals (Sweden)

    Franciele Francisca Marmentini Rovani

    Full Text Available A análise ambiental, com base nos processos de morfogênese e pedogênese, possibilita informações importantes para a elaboração de políticas públicas visando o uso e ocupação da paisagem de maneira sustentável. Com isso, objetivou-se identificar os diferentes níveis de vulnerabilidade natural à perda de solo do município de Silveira Martins, RS. Foi elaborado um banco de dados espaciais em um ambiente de Sistemas de Informações Geográficas (SIG com auxílio do software Spring. O zoneamento da vulnerabilidade natural à perda de solo foi elaborado com base nas informações referentes à declividade, geomorfologia, geologia e solos de acordo com o grau de vulnerabilidade de cada informação, por meio da álgebra de mapas. Para o território municipal de Silveira Martins identificou-se a ocorrência de cinco classes. Destacam-se as unidades estáveis com predomínio dos processos formadores do solo (38,08% da área municipal, e as unidades moderadamente vulneráveis, prevalecendo os processos erosivos (53,67%. As áreas classificadas como moderadamente vulnerável e vulnerável (8,25%, correspondem a áreas com inclinações superiores a 25º e com formação geológica e geomorfológica menos estáveis. Nas unidades em que predominou a vulnerabilidade natural, sugere-se especial atenção em relação ao meio natural e aos agentes que o influenciam, visando boas práticas sociais associadas às políticas ambientais no processo de tomada de decisões econômicas, possibilitando a valorização e proteção do meio natural.

  17. The rs4646 and rs12592697 Polymorphisms in CYP19A1 Are Associated with Disease Progression among Patients with Breast Cancer from Different Racial/ethnic Backgrounds.

    Directory of Open Access Journals (Sweden)

    Reina Armamento-Villareal

    2016-12-01

    Full Text Available Given the racial/ethnic disparities in breast cancer, we evaluated the association between CYP19A1 single nucleotide polymorphisms (SNPs on disease progression in women with breast cancer from different racial/ethnic backgrounds. This is a cross-sectional analysis of data from 327 women with breast cancer in the Expanded Breast Cancer Registry program of the University of New Mexico. Stored DNA samples were analyzed for CYP19A1 SNPs using a custom designed microarray panel. Genotype-phenotype correlations were analyzed. Of the 384 SNPs, 2 were associated with clinically significant outcomes, the rs4646 and rs12592697. The T allele for the rs4646 was associated with advanced stage of the disease at the time of presentation (odds ratio OR:1.8, confidence intervals CI: 1.05-3.13, p<0.05 and a more progressive disease (OR: 2.1 CI: 1.1-4.0, p=0.04. For the rs12592697, the variant T allele was more frequent in Hispanic women and associated with a more progressive disease (OR: 2.05 CI: 1.0-4.0, p=0.04. However, further analysis according to menopausal status showed that the association between these 2 SNPs with disease progression or the stage at diagnosis are confined only to postmenopausal women. The odds ratios of disease progression among postmenopausal women carrying the T allele for the rs4646 and rs12592697 are 3.05 (1.21, 7.74, p=0.02 and 3.80 (1.24, 11.6, p=0.02, respectively. Regardless, differences in disease progression among the different genotypes for both SNPs disappeared after adjustment for treatment. In summary, the rs4646 and the rs12592697 SNPs in CYP19A1 are associated with differences in disease progression in postmenopausal women. However, treatment appears to mitigate the differences in genetic risk.ClinicalTrials.govs Identifier: NCT00322894(https://clinicaltrials.gov/ct2/show/NCT00322894?term=new+mexico+breast+cancer+registry&rank=1

  18. Investigating the Correlation between rs1049305 and ‏rs10244884 Polymorphisms of AQP-1 Gene and Menorrhagia ‎in Adolescents

    Directory of Open Access Journals (Sweden)

    S Madani

    2014-02-01

    Results: Regarding ‏‎rs1049305, the C minor allele showed more frequency in patients' group‏ (0.47 vs. 0.37.‎‎ The results revealed that GG genotype presents less probable risk ‎for menorrhagia. ‎‎ rs10244884‎ also shows the same frequency. Conclusion: It can be concluded that both variants are important in pathogenesis of menorrhagia and the results confirm the important role of Aquqporin–1 channel in menstruation as well as endometrium physiology.

  19. AssociAtion of the enPP1 rs997509 PolymorPhism with obesity in ...

    African Journals Online (AJOL)

    2010-08-08

    Aug 8, 2010 ... contribution of genetic factors to childhood obesity in south African children and adolescents. the aims of our study were to genotype the k121Q (rs1044498), rs997509 and rs9402349 variants among mixed ancestry obese and normal weight children from south Africa, and to establish their role in obesity.

  20. X-ray spectra and the rotation-activity connection of RS Canum Venaticorum binaries

    Science.gov (United States)

    Majer, P.; Schmitt, J. H. M. M.; Golub, L.; Harnden, F. R., Jr.; Rosner, R.

    1986-01-01

    Results are presented from a survey of RS CVn binaries which were observed with the imaging proportional counter (IPC) on board the Einstein Observatory. Spectral analyses of the IPC pulse height spectra show that the coronae of RS CVn binaries always contain hot gas with temperatures in excess of 10 to the 7th K, similar to active late-type main-sequence stars, and that at least two temperature components are necessary to account for the higher quality IPC spectra (when absorption is unimportant). It is argued that these bimodal temperature distributions found by the IPC are indicative of true distributions of emission measure versus temperature that are continuous (just as is the case of magnetically confined coronal plasma loops observed on the sun). It is further shown that none of the derivable X-ray characteristics of RS CVn binaries depend on rotation period, implying that previous claims of period-activity relationships in RS CVn binaries were unfounded.

  1. Besouros cerambycidae associados a Eucalyptus spp. no município de Pinheiro Machado, RS

    National Research Council Canada - National Science Library

    Oderlei Bernardi; Mauro Silveira Garcia; Eduardo José Ely e Silva; Luiza Cristiane Fialho Zazycki; Daniel Bernardi; Dinorvan Miorelli; Élder Finkenauer

    2011-01-01

    ...., on São Manoel farm, in the municipality of Pinheiro Machado, RS. In the period from February 2006 to October 2007, collections of insects wereperformed every 15 days, with three ethanol traps...

  2. CERAMBYCIDAE BEETLES ASSOCIATED TO Eucalyptus spp. IN THE MUNICIPALITY OF PINHEIRO MACHADO, RS

    National Research Council Canada - National Science Library

    Oderlei Bernardi; Mauro Silveira Garcia; Eduardo José Ely e Silva; Luiza Cristiane Fialho Zazycki; Daniel Bernardi; Dinorvan Miorelli; Élder Finkenauer

    2011-01-01

    ...., on São Manoel farm, in the municipality of Pinheiro Machado, RS. In the period from February 2006 to October 2007, collections of insects were performed every 15 days, with three ethanol traps...

  3. Interleukin-10 gene rs1800896 polymorphism increases risk of acute pancreatitis.

    Science.gov (United States)

    Zhou, Hongmei; Liu, Ailing; Zhou, Bingzhi; Zhao, Cunxin; Jin, Guangjun

    2017-12-01

    The association between interleukin-10 (IL-10) gene rs1800896 polymorphism and susceptibility to acute pancreatitis (AP) has been investigated in several studies, but with contradictory findings. Therefore, a comprehensive meta-analysis is needed to assess the strength of such association. Literatures on PubMed, EMBASE, and CNKI were searched to identify relevant studies. The strength of association between IL-10 gene rs1800896 polymorphism and AP risk was assessed using pooled odds ratios and 95% confidence intervals. Totally 7 case-control studies involving 1527 cases and 1511 controls were identified. Analyses proved that IL-10 gene rs1800896 polymorphism was significantly associated with an increased risk of AP. Stratification analysis of ethnicity found such significant association only among Asians, but not Caucasians. IL-10 gene rs1800896 polymorphism increases the risk of AP.

  4. Molecular epidemiology of HIV-1 in Rio Grande, RS, Brazil Epidemiologia molecular do HIV-1 em Rio Grande, RS, Brasil

    Directory of Open Access Journals (Sweden)

    Ana Maria Barral de Martínez

    2002-10-01

    Full Text Available We conducted a molecular epidemiological study to investigate HIV-1 strains in Rio Grande, southern Brazil, searching for an association with transmission mode and risk behavior. Patients (185 identified at an AIDS treatment reference Hospital, from 1994 to 1997, were included; from which 107 blood samples were obtained. Nested PCR was realized once for each sample; for amplified samples (69 HIV subtypes were classified using the heteroduplex mobility assay. Subtypes identified were B (75%, C (22% and F (3%. All infections with C were diagnosed after 1994. Comparing patients with B and C, no differences were detected regarding demographic, clinical and laboratory characteristics; survival analysis did not reveal differences in HIV to AIDS evolution. A higher proportion of injecting drug users, IDU (not significant, pUm estudo de epidemiologia molecular foi conduzido para investigar subtipos de HIV-1 circulando em Rio Grande, RS, buscando uma associação com modos de transmissão e comportamentos de risco. Pacientes (185 identificados de 1994 a 1997, em um Hospital de referência para o tratamento da AIDS foram incluidos; amostras de sangue foram obtidas de 107. A reação em cadeia da polimerase (PCR foi realizada uma única vez; nas amostras que amplificaram, (69 o subtipo foi classificado pelo ensaio de mobilidade do heteroduplex (HMA. Os subtipos de HIV identificados foram B (75%, C (22% e F (3%. As infecções com C foram diagnosticadas após 1994. Pacientes infectados com B e C não mostraram diferenças (características demográficas, clínicas e laboratoriais; a análise de sobrevida não mostrou diferenças na evolução HIV-AIDS. Maior proporção de usuários de drogas injetáveis (UDI (não significativa, p<0,07, foi identificada entre infectados com C. Este resultado sugere C ter sido introduzido nesta área através dos UDI, sendo transmitido pelos seus parceiros sexuais, a pessoas com outras práticas de risco.

  5. Survey of Canadian animal-based researchers' views on the Three Rs: replacement, reduction and refinement.

    Directory of Open Access Journals (Sweden)

    Nicole Fenwick

    Full Text Available The 'Three Rs' tenet (replacement, reduction, refinement is a widely accepted cornerstone of Canadian and international policies on animal-based science. The Canadian Council on Animal Care (CCAC initiated this web-based survey to obtain greater understanding of 'principal investigators' and 'other researchers' (i.e. graduate students, post-doctoral researchers etc. views on the Three Rs, and to identify obstacles and opportunities for continued implementation of the Three Rs in Canada. Responses from 414 participants indicate that researchers currently do not view the goal of replacement as achievable. Researchers prefer to use enough animals to ensure quality data is obtained rather than using the minimum and potentially waste those animals if a problem occurs during the study. Many feel that they already reduce animal numbers as much as possible and have concerns that further reduction may compromise research. Most participants were ambivalent about re-use, but expressed concern that the practice could compromise experimental outcomes. In considering refinement, many researchers feel there are situations where animals should not receive pain relieving drugs because it may compromise scientific outcomes, although there was strong support for the Three Rs strategy of conducting animal welfare-related pilot studies, which were viewed as useful for both animal welfare and experimental design. Participants were not opposed to being offered "assistance" to implement the Three Rs, so long as the input is provided in a collegial manner, and from individuals who are perceived as experts. It may be useful for animal use policymakers to consider what steps are needed to make replacement a more feasible goal. In addition, initiatives that offer researchers greater practical and logistical support with Three Rs implementation may be useful. Encouragement and financial support for Three Rs initiatives may result in valuable contributions to Three Rs

  6. Design of Bus Protocol Intelligent Initiation System Based On RS485

    Directory of Open Access Journals (Sweden)

    Li Liming

    2017-01-01

    Full Text Available In order to design an effective and reliable RS485 bus protocol based on RS485 bus, this paper introduces the structure and transmission mode of the command frame and the response frame, and also introduce four control measures and the communication in order to process quality of this system. The communication protocol is open, tolerant, reliable and fast, and can realize ignition more reliable and accurate in the intelligent initiation system.

  7. RS3PE presenting in a unilateral pattern: case report and review of the literature.

    Science.gov (United States)

    Keenan, Robert T; Hamalian, Gareen M; Pillinger, Michael H

    2009-06-01

    To review the clinical features and pathophysiologic implications of remitting seronegative symmetrical synovitis with pitting edema (RS(3)PE) presenting in a unilateral manner. We identified and characterized an index case of RS(3)PE presenting in a unilateral pattern. We subsequently performed a systematic literature search to identify other reports of patients with unilateral RS(3)PE. The index case was a 76-year-old male with a prior history of right hemiparesis owing to a cerebrovascular accident 25 years prior, who developed a classic picture of RS(3)PE involving hand (metacarpophalageal and wrist joint) arthritis and dorsal pitting edema, accompanied by an elevated erythrocyte sedimentation rate, but only in the nonhemiparetic hand. The condition responded rapidly to low-dose prednisone. Our literature search identified 5 other cases of unilateral RS(3)PE, including 2 presented only in the Italian or German literature. Of the 5 cases, 2 were in patients with preexisting neurologic disease, in which the neurologically affected side was spared. One additional case initially presented as unilateral disease but rapidly progressed to bilaterality. Two cases presented in a fully unilateral manner despite no reported neurologic abnormalities on the unaffected sides. While RS(3)PE is almost always a symmetric disease of the upper extremities, it may rarely present in a unilateral fashion. The apparent ability of neuropathic changes to protect against the expression of RS(3)PE in an extremity suggests a role for neural and possibly other local factors in the genesis/modulation of the onset or maintenance of RS(3)PE.

  8. Association of rs1122608 with Coronary Artery Disease and Lipid Profile: A Meta-analysis.

    Science.gov (United States)

    Liu, Shuo; Xiu, Bingqiu; Liu, Jingdong; Xue, Aimin; Tang, Qiqun; Shen, Yiwen; Xie, Jianhui

    2016-05-01

    It has been reported that rs1122608 adjacent to low-density lipoprotein cholesterol receptor (LDLR) locus is associated with the risk of coronary artery disease (CAD) and blood lipid profile in the Caucasian population. Due to the contradictory results in the Asian population, we conducted a meta-analysis to systematically summarize and clarify the association between rs1122608 with CAD risk and lipid profile. A systematic search regarding studies on the association of rs1122608 with CAD risk and lipid profile was conducted in databases including PubMed, Embase, and Cochrane library. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were used to pool the effect size. A total of five case-control studies were included in this study. A statistically significant association was identified between rs1122608-G allele and CAD risk in overall analysis (OR = 2.09, 95% CI 1.48-2.97) and in both Asian (OR = 1.82, 95% CI 1.04-3.18) and Caucasian subgroups (OR = 2.31, 95% CI 1.48-3.60). The rs1122608-G allele was associated with increased triglyceride (TG) level (OR = 1.25, 95% CI 1.03-1.52), but not with total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), or LDL cholesterol level. Moreover, the rs1122608-G allele is associated with increased CAD risk in the Asian male population (OR = 3.37, 95% CI 1.51-9.86) but not in the Asian female population. The rs1122608 is associated with the risk of CAD and TG level. The rs1122608-G allele was a significant risk factor of CAD in the Asian male population but not in the Asian female population. Copyright © 2016 IMSS. Published by Elsevier Inc. All rights reserved.

  9. Fatty acid translocase gene CD36 rs1527483 variant influences oral fat perception in Malaysian subjects.

    Science.gov (United States)

    Ong, Hing-Huat; Tan, Yen-Nee; Say, Yee-How

    2017-01-01

    We determined whether single nucleotide polymorphisms (SNPs; rs1761667 and rs1527483) in the fatty acid translocase CD36 gene - a receptor for fatty acids - is associated with oral fat perception (OFP) of different fat contents in custards and commercially-available foods, and obesity measures in Malaysian subjects (n=313; 118 males, 293 ethnic Chinese; 20 ethnic Indians). A 170-mm visual analogue scale was used to assess the ratings of perceived fat content, oiliness and creaminess of 0%, 2%, 6% and 10% fat content-by-weight custards and low-fat/regular versions of commercially-available milk, mayonnaise and cream crackers. Overall, the subjects managed to significantly discriminate the fat content, oiliness and creaminess between low-fat/regular versions of milk and mayonnaise. Females rated the perception of fat content and oiliness of both milks higher, but ethnicity, obesity and adiposity status did not seem to play a role in influencing most of OFP. The overall minor allele frequencies for rs1761667 and rs1527483 were 0.30 and 0.26, respectively. Females and individuals with rs1527483 TT genotype significantly perceived greater creaminess of 10% fat-by-weight custard. Also, individuals with rs1527483 TT genotype and T allele significantly perceived greater fat content of cream crackers, independent of fat concentration. rs1761667 SNP did not significantly affect OFP, except for cream crackers. Both gene variants were also not associated with obesity measures. Taken together, this study supports the notion that CD36 - specifically rs1527483, plays a role in OFP, but not in influencing obesity in Malaysian subjects. Besides, gender is an important factor for OFP, where females had higher sensitivity. Copyright © 2016 Elsevier Inc. All rights reserved.

  10. The Use of Systematic Reviews and Reporting Guidelines to Advance the Implementation of the 3Rs

    Science.gov (United States)

    Avey, Marc T; Fenwick, Nicole; Griffin, Gilly

    2015-01-01

    In 1959, Russell and Burch published The Principles of Humane Experimental Technique, which included concrete advice on factors that they considered would govern progress in the implementation of these principles (enunciated as the 3Rs [Replacement, Reduction, and Refinement in animal-based studies]). One challenge to the implementation of the 3Rs was identified as information retrieval. Here, we further explore this challenge—the need for ‘research on research’—and the role that systematic reviews and reporting guidelines can play in implementation of the 3Rs. First, we examine the 2-fold nature of the challenge of information retrieval: 1) the identification of relevant publications spread throughout a large population of nonrelevant publications and 2) the incomplete reporting of relevant details within those publications. Second, we evaluate how systematic reviews and reporting guidelines can be used generally to address this challenge. Third, we assess the explicit reporting of the 3Rs in a cohort of preclinical animal systematic reviews. Our results show that Reduction methods are the most commonly reported by authors of systematic reviews but that, in general, reporting on how findings relate to the 3Rs is limited at best. Although systematic reviews are excellent tools for resolving the challenge of information retrieval, their utility for making progress in implementation of the 3Rs may be limited unless authors improve their reporting of these principles. PMID:25836961

  11. CDKN2B gene rs1063192 polymorphism decreases the risk of glaucoma.

    Science.gov (United States)

    Hu, Zhenxian; He, Chenliang

    2017-03-28

    The aim of this meta-analysis was to evaluate the association between cyclin-dependent kinase Inhibitor-2B (CDKN2B) gene rs1063192 polymorphism and glaucoma risk. We searched the databases of PubMed, and Embase. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by using fixed-effect or random-effect models. A total of 14 case-control studies involving 11,316 cases and 24,055 controls were included. Meta-analysis showed that CDKN2B gene rs1063192 polymorphism was associated with a decreased risk of glaucoma. Stratification analysis of ethnicity indicated that rs1063192 polymorphism decreased the risk of glaucoma among Caucasians and Asians. Stratification analysis by type of glaucoma revealed that rs1063192 polymorphism conferred a protective factor of primary open-angle glaucoma (POAG) and non-POAG. Stratification by source of controls uncovered an association between rs1063192 polymorphism and glaucoma in groups of population-based controls. In conclusion, this meta-analysis indicates that CDKN2B gene rs1063192 polymorphism is significantly associated with a decreased risk of glaucoma.

  12. The common variant rs11646213 is associated with preeclampsia in Han Chinese women.

    Directory of Open Access Journals (Sweden)

    Ji-peng Wan

    Full Text Available BACKGROUND: Preeclampsia, characterized by hypertension and proteinuria, is a multifactorial disease caused by complex interactions between environmental and genetic factors. A recent genome-wide association study of blood pressure reported an association between hypertension and rs11646213. This study evaluated the association between preeclampsia and rs11646213. METHODS: A total of 454 cases and 460 controls were recruited to participate in this study. The single nucleotide polymorphism (SNP rs11646213 was genotyped by polymerase chain reaction (PCR and direct sequencing. RESULTS: The allele frequency of rs11646213 was significantly different between the preeclampsia and control groups (P = 0.017, OR = 1.36, 95% CI = 1.06-1.76. Differences were particularly significant in the severe preeclampsia subgroup (P = 0.002, OR = 1.54, 95% CI = 1.17-2.03 and the early-onset preeclampsia subgroup (P = 0.004, OR = 1.57, 95% CI = 1.16-2.13. Genotyping analysis showed that the T allele of rs11646213 could confer a risk for preeclampsia, severe preeclampsia and early-onset preeclampsia. CONCLUSIONS: Rs11646213 upstream of the CDH13 gene is associated with preeclampsia in Han Chinese women.

  13. Validation of rs2956540:G>C and rs3735520:G>A association with keratoconus in a population of European descent.

    Science.gov (United States)

    Dudakova, Lubica; Palos, Michalis; Jirsova, Katerina; Stranecky, Viktor; Krepelova, Anna; Hysi, Pirro G; Liskova, Petra

    2015-11-01

    Corneal ectasias, among which keratoconus (KC) is the single most common entity, are one of the most frequent reasons for corneal grafting in developed countries and a threatening complication of laser in situ keratomileusis. Genome-wide association studies have previously found lysyl oxidase (LOX) and hepatocyte growth factor (HGF) associated with susceptibility to KC development. The aim of our study was to validate the effects of seven single-nucleotide polymorphisms (SNPs) within LOX and HGF over KC. Unrelated Czech cases with KC of European descent (108 males and 57 females, 165 cases in total) and 193 population and gender-matched controls were genotyped using Kompetitive Allele Specific PCR assays. Fisher's exact tests were used to assess the strength of associations. Evidence for association was found for both of the tested loci. It was strongest for rs3735520:G>A near HGF (allelic test odds ratio (OR)=1.45; 95% confidence interval (CI), 1.06-1.98; P=0.018) with A allele being a risk factor and rs2956540:G>C (OR=0.69; 95% CI, 0.50-0.96; P=0.024) within LOX with C allele having a protective effect. This first independent association validation of rs2956540:G>C and rs3735520:G>A suggests that these SNPs may serve as genetic risk markers for KC in individuals of European descent.

  14. 40 CFR 180.545 - Prallethrin (RS)-2-methyl-4-oxo-3-(2-propynyl)cyclopent-2-enyl (1RS)-cis, trans-chrysanthemate...

    Science.gov (United States)

    2010-07-01

    ... commodities in food handling establishments where food and food products are held, processed, prepared and/or... treatment in food handling establishments where food and food products are held, processed, prepared and/or... EXEMPTIONS FOR PESTICIDE CHEMICAL RESIDUES IN FOOD Specific Tolerances § 180.545 Prallethrin (RS)-2-methyl-4...

  15. Lack of Association between Missense Variants in GRHL3 (rs2486668 and rs545809 and Susceptibility to Non-Syndromic Orofacial Clefts in a Han Chinese Population.

    Directory of Open Access Journals (Sweden)

    Miao He

    Full Text Available Grainyhead-like-3 (GRHL3 was recently identified as the second gene that, when mutated, can leads to Van der Woude syndrome, which is characterized by orofacial clefts (OFC and lower lip pits. In addition, a missense variant (rs41268753 in GRHL3 confers risk for non-syndromic cleft palate cases of European ancestry. Together with interferon regulatory factor 6 (IRF6, GRHL3 may be associated with the risk of NSOFC which awaits for being verified across different ethnic populations.The aim of this study was to investigate the possible relationship between common functional variants in GRHL3 and susceptibility to NSOFC, especially cleft palate cases, in a Han Chinese population, one of the ethnic groups with the highest birth prevalence of orofacial clefting.Because the allele frequency for rs41268753 minor alleles was zero in our Chinese population, we selected functional single nucleotide polymorphisms (SNPs spanning GRHL3 with minor allele frequencies (MAFs > 5% in the Han Chinese population. Two SNPs which meet the above criteria were then genotyped in a case-control cohort comprising 1145 individuals using the TaqMan 5'-exonuclease allelic discrimination assay.SNPs rs2486668 and rs545809 were used in this study. Overall genotype and allele distributions of both SNPs in general and stratified genotyping analyses revealed no statistically significant differences between cases and controls. Further logistic regression analyses using different genetic models failed to reveal any evidence that these markers influence risk to NSOFC.The variant rs41268753 in GRHL3 increases the risk for cleft palate in European population, but our findings failed to detect the link between two GRHL3 SNPs (rs2486668 and rs545809 and risk to NSOFC in the Han Chinese cohort. Although the present study did not provide any evidence that common functional variants in GRHL3 may contribute to NSOFC etiology in this Chinese population, further studies with a larger sample

  16. Lack of association between KCNJ11 (rs5219 and ABCC8 (rs757110 polymorphisms and sulphonylurea treatment response in type 2 diabetes patients in Novosibirsk region

    Directory of Open Access Journals (Sweden)

    Irina Arkadyevna Bondar

    2015-03-01

    Full Text Available AimSulfonylureas (SU are widely used in everyday clinical practice in treatment of patients with type 2 diabetes mellitus (T2DM. There is a considerable variability in SU effects, which may be caused by psychological, social, biological and genetic factors. The aim of the study was to investigate the association between rs5219 KCNJ11 gene and rs757110 ABCC8 gene polymorphism and long-term response to SU-drugs of second and third generation in the Novosibirsk region.Materials and Methods326 patients with type 2 diabetes in the Novosibirsk region were examined. Patients were divided into 2 groups, depending on HbA1c level. The first group included patients with target HbA1c levels on SU monotherapy. The second group included patients who did not reach target HbA1c levels on the highest dose of SU. Genotyping of KCNJ11 (rs5219 and ABCC8 (rs757110 was performed by TaqMan real-time PCR (ICBFM SB RAS, Novosibirsk, Russia.ResultsPatients with type 2 diabetes with a good response to SU-therapy compared to the group of patients with a poor response to SU-therapy were older (65.8±9.1 years vs. 61.6±7.9 years, p<0.01, had later onset of type 2 diabetes (59.7±9.2 years vs. 48.3±9.3 years, p <0.01, shorter duration of type 2 diabetes (6.1±4.8 years vs. 13.2±7.3 years, p<0.01 and weak insulin resistance: fasting insulin 9.7±6.9 mU/ml vs. 13.6±12.7 mU/ml (p<0.05, HOMA-IR 3.1±2.2 vs. 6.2±6.0 (p<0.01, triglycerides 1.76±0.83 mmol/l vs. 2.42±1.97 mmol/l (p <0.01. Statistically significant differences between KCNJ11 (rs5219 and ABCC8 (rs757110 genotypes and response to SU-therapy was not found. The frequency of risk allele T polymorphism rs5219 KCNG11 gene in patients with a good response to SU was 0.38 and in the patients with a poor response to SU -0.38 (χ2=0.02, р=0.89. The frequency of the risk allele G polymorphism rs757110 ABCC8 gene in patients with a good response to SU was 0.40 and in the patients with poor response to SU -0.37 (χ2

  17. Simultaneous Genotyping of the rs4762 and rs699 Polymorphisms in Angiotensinogen Gene and Correlation with Iranian CAD Patients with Novel Hexa-primer ARMS-PCR.

    Science.gov (United States)

    Khatami, Mehri; Heidari, Mohammad Mehdi; Hadadzadeh, Mehdi; Scheiber-Mojdehkar, Barbara; Bitaraf Sani, Morteza; Houshmand, Massoud

    2017-06-01

    A significant role of Renin-angiotensin system (RAS) genetic variants in the pathogenesis of essential hypertension and cardiovascular diseases has been proved. This study aimed to develop a new, fast and cheap method for the simultaneous detection of two missense single nucleotide polymorphisms (T207M or rs4762 and M268T orrs699) of angiotensinogen (AGT) in single-step Multiplex Hexa-Primer Amplification Refractory Mutation System - polymerase chain reaction (H-ARMS-PCR). In this case-control study, 148 patients with coronary artery disease (CAD) and 135 controls were included. The patients were referred to cardiac centers in Afshar Hospital (Yazd, Iran) from 2012 to 2015. Two sets of inner primer (for each SNP) and one set outer primer pairs were designed for genotyping of rs4762 and rs699 in single tube H-ARMS-PCR. Direct sequencing of all samples was also performed to assess the accuracy of this method. DNA sequencing method validated the results of single tube H-ARMS-PCR. We found full accordance for genotype adscription by sequencing method. The frequency of the AGT T521 and C702 alleles was significantly higher in CAD patients than in the control group (OR: 0.551, 95% CI: 0.359-0.846, P=0.008 and OR: 0.629, 95% CI: 0.422-0.936, P=0.028, respectively). This is the first work describing a rapid, low-cost, high-throughput simultaneous detection of rs4762 and rs699 polymorphisms in AGT gene, used in large clinical studies.

  18. Contribution of CDKAL1 rs7756992 and IGF2BP2 rs4402960 polymorphisms in type 2 diabetes, diabetic complications, obesity risk and hypertension in the Tunisian population.

    Science.gov (United States)

    Lasram, Khaled; Ben Halim, Nizar; Benrahma, Houda; Mediene-Benchekor, Sounnia; Arfa, Imen; Hsouna, Sana; Kefi, Rym; Jamoussi, Henda; Ben Ammar, Slim; Bahri, Sonia; Abid, Abdelmajid; Benhamamouch, Soraya; Barakat, Abdelhamid; Abdelhak, Sonia

    2015-01-01

    The insulin-like growth factor 2 mRNA-binding protein 2 (IGF2BP2) and the cyclin-dependent kinase 5 regulatory subunit-associated protein 1-like 1 (CDKAL1) identified through genome-wide association (GWA) studies have been shown to be associated with Type 2 diabetes in various ethnic groups. In this study, we investigated the association of the rs7756992 of CDKAL1 and the rs4402960 of IGF2BP2 with Type 2 diabetes, diabetic complications (nephropathy, retinopathy and cardiovascular disease), obesity and hypertension in a Tunisian population. A case-control association study including 200 Type 2 diabetes Tunisian patients (World Health Organization criteria) and 208 controls (age ≥40; fasting plasma glucose cardiovascular disease, overweight/obesity and hypertension have been also collected. Genotyping was performed using TaqMan technology. A significant association between the rs4402960 and Type 2 diabetes (OR = 1.86, 95% CI = 1.34-2.58, P obese subjects bearing the T-allele have an increased risk to develop Type 2 diabetes (OR = 2.06, 95% CI = 1.40-3.03, P risk of diabetic nephropathy in patients with diabetes (OR = 0.44, 95% CI = 0.27-0.73, P = 0.001). The present study confirms that the rs4402960 of IGF2BP2 gene is a strong candidate for Type 2 diabetes susceptibility and overweight/obesity risk in the Tunisian population. Interestingly, our data suggest that the rs7756992 of CDKAL1 gene have a protective effect against diabetic nephropathy. © 2014 Ruijin Hospital, Shanghai Jiaotong University School of Medicine and Wiley Publishing Asia Pty Ltd.

  19. Association between CYP19 gene SNP rs2414096 Polymorphism and polycystic ovary syndrome in Chinese women

    Directory of Open Access Journals (Sweden)

    Yi Long

    2009-12-01

    Full Text Available Abstract Background Several studies have reported the association of the SNP rs2414096 in the CYP19 gene with hyperandrogenism, which is one of the clinical manifestations of polycystic ovary syndrome (PCOS. These studies suggest that SNP rs2414096 may be involved in the etiopathogenisis of PCOS. To investigate whetherthe CYP19 gene SNP rs2414096 polymorphism is associated with the susceptibility to PCOS, we designed a case-controlled association study including 684 individuals. Methods A case-controlled association study including 684 individuals (386 PCOS patients and 298 controls was performed to assess the association of SNP rs2414096 with PCOS. Genotyping of SNP rs2414096 was conducted by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP method that was performed on genomic DNA isolated from blood leucocytes. Results were analyzed in respect to clinical test results. Results The genotypic distributions of rs2414096 (GG, AG, AA in the CYP19 gene (GG, AG, AA in women with PCOS (0.363, 0.474, 0.163, respectively were significantly different from that in controls (0.242, 0.500, 0.258, respectively (P = 0.001. E2/T was different between the AA and GG genotypes. Age at menarche (AAM and FSH were also significantly different among the GG, AG, and AA genotypes in women with PCOS (P = 0.0391 and 0.0118, respectively. No differences were observed in body mass index (BMI and other serum hormone concentrations among the three genotypes, either in the PCOS patients or controls. Conclusions Our data suggest that SNP rs2414096 in the CYP19 gene is associated with susceptibility to PCOS.

  20. Biocompatibility of rapidly solidified magnesium alloy RS66 as a temporary biodegradable metal.

    Science.gov (United States)

    Willbold, Elmar; Kalla, Katharina; Bartsch, Ivonne; Bobe, Katharina; Brauneis, Maria; Remennik, Sergei; Shechtman, Dan; Nellesen, Jens; Tillmann, Wolfgang; Vogt, Carla; Witte, Frank

    2013-11-01

    Biodegradable magnesium-based alloys are very promising materials for temporary implants. However, the clinical use of magnesium-based alloys is often limited by rapid corrosion and by insufficient mechanical stability. Here we investigated RS66, a magnesium-based alloy with extraordinary physicochemical properties of high tensile strength combined with a high ductility and a homogeneous grain size of ~1 μm which was obtained by rapid solidification processing and reciprocal extrusion. Using a series of in vitro and in vivo experiments, we analyzed the biodegradation behavior and the biocompatibility of this alloy. In vitro, RS66 had no cytotoxic effects in physiological concentrations on the viability and the proliferation of primary human osteoblasts. In vivo, RS66 cylinders were implanted into femur condyles, under the skin and in the muscle of adult rabbits and were monitored for 1, 2, 3, 4 and 8 weeks. After explantation, the RS66 cylinders were first analyzed by microtomography to determine the remaining RS66 alloy and calculate the corrosion rates. Then, the implantation sites were examined histologically for healing processes and foreign body reactions. We found that RS66 was corroded fastest subcutaneously followed by intramuscular and bony implantation of the samples. No clinical harm with transient gas cavities during the first 6 weeks in subcutaneous and intramuscular implantation sites was observed. No gas cavities were formed around the implantation site in bone. The corrosion rates in the different anatomical locations correlated well with the local blood flow prior to implantation. A normal foreign body reaction occurred in all tissues. Interestingly, no enhanced bone formation could be observed around the corroding samples in the condyles. These data show that RS66 is biocompatible, and due to its interesting physicochemical properties, this magnesium alloy is a promising material for biodegradable implants. Copyright © 2013 Acta Materialia Inc

  1. Cytoprotective Effects of a Novel Nrf2 Activator, RS9, in Rhodopsin Pro347Leu Rabbits.

    Science.gov (United States)

    Nakagami, Yasuhiro; Hatano, Emiko; Inoue, Tatsuya; Yoshida, Kazuhiro; Kondo, Mineo; Terasaki, Hiroko

    2016-08-01

    Rhodopsin Pro347Leu transgenic rabbits were previously generated as models of retinitis pigmentosa (RP). While the mechanism underlying the retinal deterioration in these rabbits remains unresolved, it is likely that oxidative stress is one of the factors triggering cellular loss. We have recently succeeded in obtaining a novel activator (RS9) of nuclear factor erythroid 2-related factor (Nrf2, also known as NFE2L2), which regulates antioxidant transcriptional factors. The purpose of this study was to investigate whether RS9 delays progressive retinal degeneration in the transgenic rabbits. RS9 microspheres (3 mM, 50 µL) were injected into the vitreous of rhodopsin Pro347Leu transgenic rabbits at 6 weeks, after which outer nuclear layer (ONL) thickness was measured by optical coherence tomography. Rabbits were sacrificed at 15 weeks. After intravitreal injection of RS9 microspheres, the concentration of RS9 in the vitreous was maintained at 1 nM for 2 weeks. At a concentration of 0.3 mM and 50 µL, RS9 significantly inhibited thinning of the ONL in transgenic rabbits compared to vehicle-injected transgenic rabbits. In RS9-injected transgenic rabbits, Nrf2-targeted genes had increased significantly, and levels of interleukin-6 mRNA decreased. Activation of Nrf2 signaling has potential as a novel approach for the prevention and treatment of RP, not only by driving intrinsic antioxidant enzymes, but also by inhibiting inflammatory responses. Although microspheres were employed in this study, small implants that release more compounds might be a realistic method for clinical trials.

  2. Analysis of the association of HOTAIR single nucleotide polymorphism (rs920778) and risk of cervical cancer.

    Science.gov (United States)

    Qiu, Haifeng; Liu, Qiuli; Li, Juan; Wang, Xiujuan; Wang, Yuan; Yuan, Zhongfu; Li, Jing; Pei, Dong-Sheng

    2016-07-01

    We recently demonstrated that overexpression of HOTAIR (Hox transcript antisense intergenic RNA) was associated with tumor progression and radio-resistance in human cervical cancer. Considering the single nucleotide polymorphism (SNP) rs920778 (C>T) could influence HOTAIR expression and cancer predisposition in other malignancies, we herein investigated the association between rs920778 status and cervical cancer susceptibility in a Chinese population. Using the specific TaqMan PCR assay, we genotyped rs920778 in 215 cervical cancer patients and 430 age-matched healthy controls. As shown in our data, TT genotype of rs920778 was significantly correlated with the upregulation of HOTAIR (p = 0.008). Compared with the healthy control, TT genotype and T allele notably indicated a much higher risk of cervical cancer [TT genotype: odds ratio (OR) = 2.186, 95% confidence interval (CI) = 1.378-3.466, p = 0.003; T allele: OR = 1.556, 95% CI = 1.221-1.981]. In addition, we also found that the TT genotype of rs920778 was correlated with advanced tumor stage (p = 0.039), highly histological grade (p = 0.013), lympho node metastasis (p HPV (p patients who underwent concurrent chemo-radiotherapy, TT genotype carriers present notably resistance to the combination of EBRT + ICBT + cisplatin (p = 0.023). In conclusion, we firstly reported that TT genotype of HOTAIR rs920778 was significantly associated with the cervical cancer susceptibility. Moreover, the TT genotype of rs920778 might be a potent prognostic marker in cervical cancer patients. © 2016 APMIS. Published by John Wiley & Sons Ltd.

  3. RS-34 Phoenix In-Space Propulsion System Applied to Active Debris Removal Mission

    Science.gov (United States)

    Esther, Elizabeth A.; Burnside, Christopher G.

    2014-01-01

    In-space propulsion is a high percentage of the cost when considering Active Debris Removal mission. For this reason it is desired to research if existing designs with slight modification would meet mission requirements to aid in reducing cost of the overall mission. Such a system capable of rendezvous, close proximity operations, and de-orbit of Envisat class resident space objects has been identified in the existing RS-34 Phoenix. RS-34 propulsion system is a remaining asset from the de-commissioned United States Air Force Peacekeeper program; specifically the pressure-fed storable bi-propellant Stage IV Post Boost Propulsion System. The National Aeronautics and Space Administration (NASA) Marshall Space Flight Center (MSFC) gained experience with the RS-34 propulsion system on the successful Ares I-X flight test program flown in the Ares I-X Roll control system (RoCS). The heritage hardware proved extremely robust and reliable and sparked interest for further utilization on other potential in-space applications. Subsequently, MSFC has obtained permission from the USAF to obtain all the remaining RS-34 stages for re-use opportunities. The MSFC Advanced Concepts Office (ACO) was commissioned to lead a study for evaluation of the Rocketdyne produced RS-34 propulsion system as it applies to an active debris removal design reference mission for resident space object targets including Envisat. Originally designed, the RS-34 Phoenix provided in-space six-degrees-of freedom operational maneuvering to deploy payloads at multiple orbital locations. The RS-34 Concept Study lead by sought to further understand application for a similar orbital debris design reference mission to provide propulsive capability for rendezvous, close proximity operations to support the capture phase of the mission, and deorbit of single or multiple large class resident space objects. Multiple configurations varying the degree of modification were identified to trade for dry mass optimization and

  4. The association between a novel polymorphism (rs1062577) in ESR1 and breast cancer susceptibility in the Han Chinese women.

    Science.gov (United States)

    Chen, Li; Kang, Hui; Jin, Guo-Jiang; Chen, Xin; Zhang, Qing-Yang; Lao, Wen-Ting; Li, Rui

    2016-07-01

    The aim of the present study was to analyze the genetic association between the three estrogen receptor 1 (ESR1) single nucleotide polymorphisms (SNPs; rs1062577, rs2881766, and rs9479118) and breast cancer risk in Han Chinese women. To investigate the possible association of genetic polymorphisms of any of the three ESR1 SNPs in breast cancer patients (n = 198) and healthy controls (n = 218) collected from the college hospital, peripheral blood mononuclear cells samples were analyzed by high-resolution melt-polymerase chain reaction. Odds ratios and 95% confidence intervals were used to evaluate the association between the ESR1 SNPs and breast cancer. Patients genotyped AA for ESR1 rs1062577 showed increased breast cancer risk (p = 0.005). In the menarche at ≤ 13-year-old group, there were significant differences in alleles A versus T at rs1062577 and alleles G versus T at rs2881766 between the breast cancer group and the control group. In the > 13-year-old group, the AA genotype at rs1062577, the GG genotype at rs2881766, and the CC genotype at rs9479118 increased breast cancer susceptibility. These results showed that the ESR1 rs1062577 polymorphism increased breast cancer risk in Han Chinese women, which might be used as a new SNP marker.

  5. DeAnnIso: a tool for online detection and annotation of isomiRs from small RNA sequencing data.

    Science.gov (United States)

    Zhang, Yuanwei; Zang, Qiguang; Zhang, Huan; Ban, Rongjun; Yang, Yifan; Iqbal, Furhan; Li, Ao; Shi, Qinghua

    2016-07-08

    Small RNA (sRNA) Sequencing technology has revealed that microRNAs (miRNAs) are capable of exhibiting frequent variations from their canonical sequences, generating multiple variants: the isoforms of miRNAs (isomiRs). However, integrated tool to precisely detect and systematically annotate isomiRs from sRNA sequencing data is still in great demand. Here, we present an online tool, DeAnnIso (Detection and Annotation of IsomiRs from sRNA sequencing data). DeAnnIso can detect all the isomiRs in an uploaded sample, and can extract the differentially expressing isomiRs from paired or multiple samples. Once the isomiRs detection is accomplished, detailed annotation information, including isomiRs expression, isomiRs classification, SNPs in miRNAs and tissue specific isomiR expression are provided to users. Furthermore, DeAnnIso provides a comprehensive module of target analysis and enrichment analysis for the selected isomiRs. Taken together, DeAnnIso is convenient for users to screen for isomiRs of their interest and useful for further functional studies. The server is implemented in PHP + Perl + R and available to all users for free at: http://mcg.ustc.edu.cn/bsc/deanniso/ and http://mcg2.ustc.edu.cn/bsc/deanniso/. © The Author(s) 2016. Published by Oxford University Press on behalf of Nucleic Acids Research.

  6. Prediction of solubilities for ginger bioactive compounds in hot water by the COSMO-RS method

    Science.gov (United States)

    Zaimah Syed Jaapar, Syaripah; Azian Morad, Noor; Iwai, Yoshio

    2013-04-01

    The solubilities in water of four main ginger bioactives, 6-gingerol, 6-shogaol, 8-gingerol and 10-gingerol, were predicted using a conductor-like screening model for real solvent (COSMO-RS) calculations. This study was conducted since no experimental data are available for ginger bioactive solubilities in hot water. The σ-profiles of these selected molecules were calculated using Gaussian software and the solubilities were calculated using the COSMO-RS method. The solubilities of these ginger bioactives were calculated at 50 to 200 °C. In order to validate the accuracy of the COSMO-RS method, the solubilities of five hydrocarbon molecules were calculated using the COSMO-RS method and compared with the experimental data in the literature. The selected hydrocarbon molecules were 3-pentanone, 1-hexanol, benzene, 3-methylphenol and 2-hydroxy-5-methylbenzaldehyde. The calculated results of the hydrocarbon molecules are in good agreement with the data in the literature. These results confirm that the solubilities of ginger bioactives can be predicted using the COSMO-RS method. The solubilities of the ginger bioactives are lower than 0.0001 at temperatures lower than 130 °C. At 130 to 200 °C, the solubilities increase dramatically with the highest being 6-shogaol, which is 0.00037 mole fraction, and the lowest is 10-gingerol, which is 0.000039 mole fraction at 200 °C.

  7. The MIQ-RS: A Suitable Option for Examining Movement Imagery Ability

    Directory of Open Access Journals (Sweden)

    Melanie Gregg

    2010-01-01

    Full Text Available Within rehabilitation settings, mental imagery helps to promote long-term recovery and facilitates compliance to rehabilitation exercises. Individuals who are able to effectively engage in imagery practice are likely to gain the most benefit from imagery training. Thus, a suitable imagery ability measurement tool for individuals with movement limitations is needed. The purpose of the present study was to evaluate the Movement Imagery Questionnaire—Revised second version (MIQ-RS, and compare the results of this new version with Hall and Martin's (1997 MIQ-R. Three-hundred and twenty participants from a variety of sports and performance levels agreed to take part. Results showed the internal consistency and test–retest reliability of the MIQ-RS were satisfactory, the two-factor structure of the MIQ-RS was supported by confirmatory factor analysis, and Pearson correlations indicated a strong relationship between the MIQ-R and MIQ-RS. It appears the MIQ-RS is a suitable option for examining movement imagery ability primarily aimed at the upper extremity.

  8. Identification of the 1RS rye chromosomal segment in wheat by RAPD analysis.

    Science.gov (United States)

    Iqbal, M J; Rayburn, A L

    1995-11-01

    The introgression of rye DNA into the wheat genome was studied using random decamer and specific primers with the polymerase chain reaction (PCR). DNA from paired near-isolines in Chisholm and Arkan backgrounds differing with respect to the presence of a 1 RS.1 BL translocation was amplified with 120 arbitrary sequence primers. Two of the primers (OPR 19 and OPJ07) amplified rye-specific DNA fragments. The OPR19 primer amplified a 1.35-kb fragment that appeared to be specific to the 1 RS.1 BL translocation, based on its presence only in lines carrying the 1 RS. 1 BL translocation. A fragment of the same size was also amplified in 1 RS.1 AL translocation lines. This 1 RS. 1 BL marker locus was designated Ximc 1. The other primer, OPJ07, amplified a 1.2-kb DNA sequence, that was designated Ximc 2, specific to the wheat-rye translocation in various wheat backgrounds. The sequences of the two marker loci were found to be different from each other. The Ximc 1 locus was a low-copy sequence which was also present in Balboa rye genomic DNA. Through the use of specific primers, the presence of the rye-specific marker was confirmed in hexaploid as well as in tetraploid wheat backgrounds. The use of RAPDs for the study of smaller alien introgressions into wheat is discussed.

  9. Impact of Gene rs7422339 Polymorphism in Argentine Patients With Hyperhomocysteinemia

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    Silene M. Silvera-Ruiz BSc

    2015-05-01

    Full Text Available Carbamoyl phosphate synthetase 1 ( CPS1 is a key gene in the first step of urea cycle and has been correlated with nitric oxide level and vascular smooth muscle activity. A functional single-nucleotide polymorphism C/A at position 4217 in CPS1 (National Center for Biotechnology Information SNP database no. rs7422339, T1405N was reported to be associated with high homocysteine (Hcy plasma values. Although genetic variants of methylenetetrahydrofolate reductase ( MTHFR gene are known to influence Hcy concentration, other genetic determinants of Hcy remain largely unknown. The association between the CPS1 rs7422339 and the risk of hyperhomocysteinemia in Latin American populations is unknown. Here, we study this association in 100 patients having hyperhomocysteinemia without MTHFR c.677C>T polymorphism and 100 controls. CPS1 rs7422339 was studied using polymerase chain reaction and enzymatic restriction. Comparisons of the CPS1 rs7422339 genotype distributions revealed a significant difference between groups ( P = 2.3 × 10 −3 . Patients carrying polymorphic allele showed almost 3 times higher risk (odds ratio [OR] = 2.47 of hyperhomocysteinemia than wild-type allele, suggesting that rs7422339 SNP is associated with high Hcy levels in the Argentine population.

  10. Creation of unification RS and geophysical data in Central Kyzylkum-Western Uzbekistan

    Science.gov (United States)

    Sidorova, Elena

    2014-05-01

    In the report describes the state of the art of remote sensing and geophysical studies- seismic, magnetic data on the covered Mz-Kz deposits area of Central Kyzylkum. The complex data interpretation includes three steps: (i) creation geophysical data base in ArcGIS 10.1 software; (ii) processing RS data and Erdas Imagine 9.2 software (indication method, PCA analysis and etc.); (iii) integration geophysical and RS data in to ArcGIS&RS model. Materials of seismic and magnetic studies were used for the identification of anomalous objects and their heterogeneities in deep horizons of the consolidated crust as the basis for further correlation with RS data observed on the Earth's surface. As results of collaboration between GIS and RS data analysis the new prospect areas were extracted from the study areas. Were revealed the geological structures in 3-D model, associated with mineralization, lineaments and ring structures. The complex analysis of model allowed proposing new potential ore areas for statement of prospecting work. As example, we present results of correlation between Tamdy ring structure and high velocity object on the deep 4 km, which in the which also link with large gold deposit Muruntau in Central Kyzylkum.

  11. Assessment of possible association between rs3787016 and prostate cancer risk in Serbian population.

    Science.gov (United States)

    Nikolić, Zorana Z; Brajušković, Goran N; Pavićević, Dušanka Lj Savić; Kojić, Aleksandar S; Vukotić, Vinka D; Tomović, Saša M; Cerović, Snežana J; Filipović, Vladimir; Mišljenović, Duro; Romac, Stanka P

    2013-01-01

    Recent study, which included meta-analysis of two genome-wide association studies (GWAS), followed by a replication, identified the association between single nucleotide polymorphism (SNP) rs3787016 at 19p13 and prostate cancer (PCa) risk. Considering possible genetic differences between populations, we conducted the study in order to evaluate the association of this polymorphism with prostate cancer risk in Serbian population. 261 samples of peripheral blood were obtained from the patients with PCa and 257 samples from patients with benign prostatic hyperplasia (BPH). 106 volunteers who gave samples of bucal swabs comprised the control group. For individuals diagnosed with PCa clinicopathological characteristics including serum prostate-specific antigen (PSA) level at diagnosis, Gleason score (GS) and clinical stage were determined. Genotypization of rs3787016 was performed by using Taqman(®) SNP Genotyping Assay. The differences in alelle and genotype frequencies between analyzed groups of subjects were performed by using PLINK, SPSS 17.0 for Windows and SNPStats statistical software. No significant association of rs3787016 with PCa risk was determined comparing allele and genotype frequencies among group of patients diagnosed with PCa and the control group, as well as among groups of patients with PCa and BPH. Also, no evidence of association of rs3787016 with PCa risk was shown using tests for association under dominant and recessive genetic models. SNP rs3787016 showed no significant association with standard prognostic parameters regarding PCa progression, nor with the risk of disease progression assessed according to two different risk classification systems.

  12. Two-Component Signal Transduction System SaeRS Positively Regulates Staphylococcus epidermidis Glucose Metabolism

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    Qiang Lou

    2014-01-01

    Full Text Available Staphylococcus epidermidis, which is a causative pathogen of nosocomial infection, expresses its virulent traits such as biofilm and autolysis regulated by two-component signal transduction system SaeRS. In this study, we performed a proteomic analysis of differences in expression between the S. epidermidis 1457 wild-type and saeRS mutant to identify candidates regulated by saeRS using two-dimensional gel electrophoresis (2-DE combined with matrix-assisted laser desorption/lonization mass spectrometry (MALDI-TOF-MS. Of 55 identified proteins that significantly differed in expression between the two strains, 15 were upregulated and 40 were downregulated. The downregulated proteins included enzymes related to glycolysis and TCA cycle, suggesting that glucose is not properly utilized in S. epidermidis when saeRS was deleted. The study will be helpful for treatment of S. epidermidis infection from the viewpoint of metabolic modulation dependent on two-component signal transduction system SaeRS.

  13. Deletion of the N-terminus of SF2/ASF permits RS-domain-independent pre-mRNA splicing.

    Science.gov (United States)

    Shaw, Stephanie D; Chakrabarti, Sutapa; Ghosh, Gourisankar; Krainer, Adrian R

    2007-09-05

    Serine/arginine-rich (SR) proteins are essential splicing factors with one or two RNA-recognition motifs (RRMs) and a C-terminal arginine- and serine-rich (RS) domain. SR proteins bind to exonic splicing enhancers via their RRM(s), and from this position are thought to promote splicing by antagonizing splicing silencers, recruiting other components of the splicing machinery through RS-RS domain interactions, and/or promoting RNA base-pairing through their RS domains. An RS domain tethered at an exonic splicing enhancer can function as a splicing activator, and RS domains play prominent roles in current models of SR protein functions. However, we previously reported that the RS domain of the SR protein SF2/ASF is dispensable for in vitro splicing of some pre-mRNAs. We have now extended these findings via the identification of a short inhibitory domain at the SF2/ASF N-terminus; deletion of this segment permits splicing in the absence of this SR protein's RS domain of an IgM pre-mRNA substrate previously classified as RS-domain-dependent. Deletion of the N-terminal inhibitory domain increases the splicing activity of SF2/ASF lacking its RS domain, and enhances its ability to bind pre-mRNA. Splicing of the IgM pre-mRNA in S100 complementation with SF2/ASF lacking its RS domain still requires an exonic splicing enhancer, suggesting that an SR protein RS domain is not always required for ESE-dependent splicing activation. Our data provide additional evidence that the SF2/ASF RS domain is not strictly required for constitutive splicing in vitro, contrary to prevailing models for how the domains of SR proteins function to promote splicing.

  14. Intermittent simulated moving bed chromatographic separation of (RS,RS)-2-(2,4-difluorophenyl)butane-1,2,3-triol.

    Science.gov (United States)

    Acetti, Daniela; Langel, Christian; Brenna, Elisabetta; Fuganti, Claudio; Mazzotti, Marco

    2010-04-23

    The pharmaceutically relevant compound (RS,RS)-2-(2,4-difluorophenyl)butane-1,2,3-triol, an important intermediate in the production of different antifungal drugs, is synthesized in racemic form. For further use in the laboratory the compound has to be separated into its pure enantiomers. This work describes the different steps required to set up a chiral separation using intermittent simulated moving bed chromatography (I-SMB). Furthermore, the effect of feed concentration on the choice of the operating conditions is presented in the frame of the triangle theory. The experiments are carried out at increasing total feed concentration ranging from 3 to 15 g/L. The results demonstrate that a successful I-SMB separation could be carried out thus separating 4.5 g of the racemic mixture and fulfilling the specified purity specification of 98% for both enantiomers. Copyright 2010 Elsevier B.V. All rights reserved.

  15. ACACβ gene (rs2268388) and AGTR1 gene (rs5186) polymorphism and the risk of nephropathy in Asian Indian patients with type 2 diabetes

    DEFF Research Database (Denmark)

    Shah, Viral N; Cheema, Balneek Singh; Sharma, Rajni

    2013-01-01

    Patients with type 2 diabetes (T2DM) are usually obese and concurrent obesity results into activation of the renin-angiotensin-system (RAS) which is a risk factor for diabetic nephropathy (DN). Gene-gene interaction between acetyl-coenzymeA carboxylase beta (ACACβ) gene, which is involved in fatty...... acid metabolism and angiotensin II receptors (AGTR1) gene, which mediates RAS proteins actions on renal tissue, polymorphism with DN have not been studied earlier. The present study was designed with the aim to examine the association of an ACACβ (rs2268388) and AGTR1 (rs5186) gene polymorphism....... We also found significant epistatic interactions between these two genes. TT genotypes of ACACβ gene and CC genotype of AGTR1 gene confers the risk of DN and both genes had significant epistatic interaction in Asian Indian patients with T2DM....

  16. Demanda hídrica e coeficientes de cultura (Kc para macieiras em Vacaria, RS Water requirement and crop coefficients (Kc for apple trees in Vacaria, RS, Brazil

    Directory of Open Access Journals (Sweden)

    Marco Antônio Fonseca Conceição

    2011-03-01

    Full Text Available O objetivo do presente trabalho foi determinar a demanda hídrica e os coeficientes de cultura (Kc para macieiras cultivadas na região de Vacaria, RS. O trabalho foi desenvolvido na Estação Experimental de Fruticultura Temperada (EEFT da Embrapa Uva e Vinho, localizada em Vacaria, RS, em plantas da cultivar 'Royal Gala' (Malus domestica sobre porta-enxerto M9. Foram determinados os valores do potencial matricial da água no solo, empregando-se tensiômetros de punção. Com base nesses valores, determinou-se a umidade volumétrica e o balanço hídrico mensal. O consumo hídrico da cultura variou entre 0,3mm dia-1 a 4,5mm dia-1, com média de 1,9mm dia-1. O coeficiente da cultura (Kc apresentou tendência quadrática, variando entre 0,19 e 0,88, com média igual a 0,58.The objective of this study was to determine the water requirement and the crop coefficients (Kc values for apple trees cultivated in Vacaria, RS. The study was conducted at the Experimental Station of Temperate Fruits (EEFT of Embrapa Grape and Wine, located in Vacaria, RS, in plants of the cultivar 'Royal Gala' (Malus domestica on the rootstock M9. The soil water matric potential values, that were determined employing tensiometers, were used to obtain the soil moisture and the monthly soil water balance. The water consumption of the culture ranged from 0.3mm day-1 to 4.5mm day-1, with an average of 1.9mm day-1. The crop coefficient (Kc presented a quadratic trend, ranging between 0.19 and 0.88, with mean value of 0.58.

  17. TSHR intronic polymorphisms (rs179247 and rs12885526) and their role in the susceptibility of the Brazilian population to Graves' disease and Graves' ophthalmopathy.

    Science.gov (United States)

    Bufalo, N E; Dos Santos, R B; Marcello, M A; Piai, R P; Secolin, R; Romaldini, J H; Ward, L S

    2015-05-01

    Intronic thyroid-stimulating hormone receptor polymorphisms have been associated with the risk for both Graves' disease and Graves' ophthalmopathy, but results have been inconsistent among different populations. We aimed to investigate the influence of thyroid-stimulating hormone receptor intronic polymorphisms in a large well-characterized population of GD patients. We studied 279 Graves' disease patients (231 females and 48 males, 39.80 ± 11.69 years old), including 144 with Graves' ophthalmopathy, matched to 296 healthy control individuals. Thyroid-stimulating hormone receptor genotypes of rs179247 and rs12885526 were determined by Real Time PCR TaqMan(®) SNP Genotyping. A multivariate analysis showed that the inheritance of the thyroid-stimulating hormone receptor AA genotype for rs179247 increased the risk for Graves' disease (OR = 2.821; 95 % CI 1.595-4.990; p = 0.0004), whereas the thyroid-stimulating hormone receptor GG genotype for rs12885526 increased the risk for Graves' ophthalmopathy (OR = 2.940; 95 % CI 1.320-6.548; p = 0.0083). Individuals with Graves' ophthalmopathy also presented lower mean thyrotropin receptor antibodies levels (96.3 ± 143.9 U/L) than individuals without Graves' ophthalmopathy (98.3 ± 201.9 U/L). We did not find any association between the investigated polymorphisms and patients clinical features or outcome. We demonstrate that thyroid-stimulating hormone receptor intronic polymorphisms are associated with the susceptibility to Graves' disease and Graves' ophthalmopathy in the Brazilian population, but do not appear to influence the disease course.

  18. Functional epistatic interaction between rs6046G>A in F7 and rs5355C>T in SELE modifies systolic blood pressure levels.

    Directory of Open Access Journals (Sweden)

    Said El Shamieh

    Full Text Available BACKGROUND: Although numerous genetic studies have been performed, only 0.9% of blood pressure phenotypic variance has been elucidated. This phenomenon could be partially due to epistatic interactions. Our aim was to identify epistatic interaction(s associated with blood pressure levels in a pre-planned two-phase approach. METHODS AND RESULTS: In a discovery cohort composed of 3,600 French individuals, we found rs6046A allele in F7 associated with decreased blood pressure levels (P≤3.7×10(-3 and rs5355T allele in SELE associated with decreased diastolic blood pressure levels (P = 5×10(-3. Both variants interacted in order to influence blood pressure levels (P≤0.048. This interaction was replicated with systolic blood pressure in 4,620 additional European individuals (P = 0.03. Similarly, in this replication cohort, rs6046A was associated with decreased blood pressure levels (P≤8.5×10(-4. Furthermore, in peripheral blood mononuclear cells of a subsample of 90 supposed healthy individuals, we found rs6046A positively associated with NAMPT mRNA levels (P≤9.1×10(-5, suggesting an eventual involvement of NAMPT expression in blood pressure regulation. Confirming this hypothesis, further transcriptomic analyses showed that increased NAMPT mRNA levels were positively correlated with ICAM1, SELL, FPR1, DEFA1-3, and LL-37 genes expression (P≤5×10(-3. The last two mRNA levels were positively associated with systolic blood pressure levels (P≤0.01 and explained 4% of its phenotypic variation. CONCLUSION: These findings reveal the importance of epistatic interactions in blood pressure genetics and give new insights for the role of inflammation in its complex regulation.

  19. The RNA-binding protein HOS5 and serine/arginine-rich proteins RS40 and RS41 participate in miRNA biogenesis in Arabidopsis

    KAUST Repository

    Chen, Tao

    2015-07-30

    MicroRNAs are a class of small regulatory RNAs that are generated from primary miRNA (pri-miRNA) transcripts with a stem-loop structure. Accuracy of the processing of pri-miRNA into mature miRNA in plants can be enhanced by SERRATE (SE) and HYPONASTIC LEAVES 1 (HYL1). HYL1 activity is regulated by the FIERY2 (FRY2)/RNA polymerase II C-terminal domain phosphatase-like 1 (CPL1). Here, we discover that HIGH OSMOTIC STRESS GENE EXPRESSION 5 (HOS5) and two serine/arginine-rich splicing factors RS40 and RS41, previously shown to be involved in pre-mRNA splicing, affect the biogenesis of a subset of miRNA. These proteins are required for correct miRNA strand selection and the maintenance of miRNA levels. FRY2 dephosphorylates HOS5 whose phosphorylation status affects its subnuclear localization. HOS5 and the RS proteins bind both intronless and intron-containing pri-miRNAs. Importantly, all of these splicing-related factors directly interact with both HYL1 and SE in nuclear splicing speckles. Our results indicate that these splicing factors are directly involved in the biogenesis of a group of miRNA.

  20. Phosphorylation of RS1 (RSC1A1) Steers Inhibition of Different Exocytotic Pathways for Glucose Transporter SGLT1 and Nucleoside Transporter CNT1, and an RS1-Derived Peptide Inhibits Glucose Absorption.

    Science.gov (United States)

    Veyhl-Wichmann, Maike; Friedrich, Alexandra; Vernaleken, Alexandra; Singh, Smriti; Kipp, Helmut; Gorboulev, Valentin; Keller, Thorsten; Chintalapati, Chakravarthi; Pipkorn, Rüdiger; Pastor-Anglada, Marçal; Groll, Jürgen; Koepsell, Hermann

    2016-01-01

    Cellular uptake adapts rapidly to physiologic demands by changing transporter abundance in the plasma membrane. The human gene RSC1A1 codes for a 67-kDa protein named RS1 that has been shown to induce downregulation of the sodium-D-glucose cotransporter 1 (SGLT1) and of the concentrative nucleoside transporter 1 (CNT1) in the plasma membrane by blocking exocytosis at the Golgi. Injecting RS1 fragments into Xenopus laevis oocytes expressing SGLT1 or CNT1 and measuring the expressed uptake of α-methylglucoside or uridine 1 hour later, we identified a RS1 domain (RS1-Reg) containing multiple predicted phosphorylation sites that is responsible for this post-translational downregulation of SGLT1 and CNT1. Dependent on phosphorylation, RS1-Reg blocks the release of SGLT1-containing vesicles from the Golgi in a glucose-dependent manner or glucose-independent release of CNT1-containing vesicles. We showed that upregulation of SGLT1 in the small intestine after glucose ingestion is promoted by glucose-dependent disinhibition of the RS1-Reg-blocked exocytotic pathway of SGLT1 between meals. Mimicking phosphorylation of RS1-Reg, we obtained a RS1-Reg variant that downregulates SGLT1 in the brush-border membrane at high luminal glucose concentration. Because RS1 mediates short-term regulation of various transporters, we propose that the RS1-Reg-navigated transporter release from Golgi represents a basic regulatory mechanism of general importance, which implies the existence of receptor proteins that recognize different phosphorylated forms of RS1-Reg and of complex transporter-specific sorting in the trans-Golgi. RS1-Reg-derived peptides that downregulate SGLT1 at high intracellular glucose concentrations may be used for downregulation of glucose absorption in small intestine, which has been proposed as strategy for treatment of type 2 diabetes. Copyright © 2015 by The American Society for Pharmacology and Experimental Therapeutics.

  1. P-bRS: A Physarum-Based Routing Scheme for Wireless Sensor Networks

    Directory of Open Access Journals (Sweden)

    Mingchuan Zhang

    2014-01-01

    Full Text Available Routing in wireless sensor networks (WSNs is an extremely challenging issue due to the features of WSNs. Inspired by the large and single-celled amoeboid organism, slime mold Physarum polycephalum, we establish a novel selecting next hop model (SNH. Based on this model, we present a novel Physarum-based routing scheme (P-bRS for WSNs to balance routing efficiency and energy equilibrium. In P-bRS, a sensor node can choose the proper next hop by using SNH which comprehensively considers the distance, energy residue, and location of the next hop. The simulation results show how P-bRS can achieve the effective trade-off between routing efficiency and energy equilibrium compared to two famous algorithms.

  2. Lack of association between the prothrombin rs1799963 polymorphism and juvenile myoclonic epilepsy

    Directory of Open Access Journals (Sweden)

    João Paulo Lopes Born

    2015-04-01

    Full Text Available Juvenile myoclonic epilepsy (JME accounts for 26% of generalized idiopathic epileptic syndromes. The highest levels of thrombin activity are closely involved in the development of neurological diseases, including epilepsy. The prothrombin c.20210G>A (rs1799963 variation, which alters prothrombin mRNA stability, is associated with high plasma prothrombin levels. Objective : The present study was designed to investigate whether the SNP rs1799963 is a risk factor for JME in the northeastern Brazilian population. Results : The polymorphism was genotyped in 207 controls and 123 patients using polymerase chain reaction-restriction fragment length polymorphism method. No significant differences were observed in the genotype and allele frequencies of this polymorphism between cases and controls. Conclusion : These results present no evidence for an association of rs1799963 with JME. Further studies including other types of epilepsy are required to investigate the involvement of prothrombin gene in the genetic susceptibility to chronic seizure.

  3. Psychometric Properties of the Parent and Teacher ADHD Rating Scale (ADHD-RS)

    DEFF Research Database (Denmark)

    Makransky, Guido; Bilenberg, Niels

    2014-01-01

    Attention deficit/hyperactivity disorder (ADHD) is one of the most common psychiatric disorders in childhood and adolescence. Rating the severity of psychopathology and symptom load is essential in daily clinical practice and in research. The parent and teacher ADHD-Rating Scale (ADHD-RS) includes......, was used to test the psychometric properties of this scale in a sample of 566 Danish school children between 6 and 16 years of age. The results indicated that parents and teachers had different frames of reference when rating symptoms in the mADHD-RS. There was support for the unidimensionality...... of the three subscales when parent and teacher ratings were analyzed independently. Nonetheless, evidence for differential item functioning was found across gender and age for specific items within each of the subscales. The findings expand existing psychometric information about the mADHD-RS and support its...

  4. Polymorphism of MDM2 promoter 309 (rs 2279744) and the risk of PCOS.

    Science.gov (United States)

    Chan, Ying; Jiang, Hongguo; Yang, Xiaoling; Li, Dongya; Ma, Lan; Luo, Ying; Tang, Wenru

    2016-01-01

    This study aimed at evaluating possible association between MDM2 SNP309 polymorphism (rs 2279744) and polycystic ovary syndrome (PCOS). One hundred and twenty-five women with PCOS and two hundred and fifty women without PCOS were collected from the department of reproductive medicine of college hospital in this case-control study. Peripheral blood samples were collected from all participants and DNA was extracted, MDM2 SNP309 polymorphism (rs 2279744) was determined from the 125 cases and 250 controls. Women were grouped into PCOS (n = 125) group and control group (n = 250). Odds ratios (OR) and 95% confidence intervals (CI) were used to evaluate the association between MDM2 SNP309 polymorphism (rs 2279744) and PCOS. The distribution of T allele was significant higher in PCOS cases than controls. MDM2 SNP 309 T allele is associated with PCOS.

  5. CYP2B6 rs2279343 polymorphism is associated with smoking cessation success in bupropion therapy.

    Science.gov (United States)

    Tomaz, Paulo Roberto Xavier; Santos, Juliana Rocha; Issa, Jaqueline Scholz; Abe, Tânia Ogawa; Gaya, Patrícia Viviane; Krieger, José Eduardo; Pereira, Alexandre Costa; Santos, Paulo Caleb Júnior Lima

    2015-09-01

    Previous studies suggested that polymorphisms in the CYP2B6 gene (which encodes an isoenzyme that metabolizes bupropion) and in the ANKK1 gene (which is located in the ANKK1/DRD2 gene cluster) might influence response to therapy. Thus, the aim of the present study was to evaluate whether the CYP2B6 and ANKK1 polymorphisms are associated with the response to smoking cessation therapies in patients from a smoking cessation assistance program. The cohort study enrolled 478 smokers who received behavioral counseling and drug therapy (bupropion, nicotine replacement therapy, and/or varenicline). Smoking cessation success was considered for patients who completed 6 months of continuous abstinence. Fagerström test for nicotine dependence (FTND) and Issa situational smoking scores were analyzed for nicotine dependence (ND). The ANKK1 rs1800497, CYP2B6*4 (rs2279343), CYP2B6*5 (rs3211371), and CYP2B6*9 (rs3745274) polymorphisms were genotyped by high resolution melting analysis or by restriction fragment length polymorphism. Patients with CYP2B6 rs2279343 wild-type AA genotype had higher success rate (48.0 %) compared with patients carrying AG or GG genotypes (CYP2B6*4 variant) (35.5 %) on bupropion therapy. The AA genotype was associated with higher OR for success during bupropion therapy (OR = 1.92, 95 % CI = 1.08-3.42, p = 0.03) in a multivariate model. We did not observe significant differences in the FTND and Issa scores according to the studied polymorphisms. We showed that patients with CYP2B6*4 (rs2279343) variant had lower success rate with bupropion. Likely, the CYP2B6*4 variant, which leads to a rapid predicted metabolic phenotype for the isoenzyme, influences the pharmacological activity of bupropion. Our finding suggests that CYP2B6*4 may be an important genetic marker for individualized bupropion pharmacotherapy.

  6. CHRNA4 rs1044396 is associated with smoking cessation in varenicline therapy

    Directory of Open Access Journals (Sweden)

    Juliana Rocha Santos

    2015-02-01

    Full Text Available The large individual variability in response to drugs for smoking cessation suggests that specific treatments can be more effective in particular subgroups of smokers. In the context of personalized medicine, the main aim of the present study was to evaluate whether the CHRNA4 and CHRNB2 polymorphisms are associated with response to smoking cessation therapies in patients from a smoker assistance program. This cohort study enrolled 483 smoking patients who received behavioral counseling and drug treatment (varenicline, bupropion and/or nicotine replacement therapy. Smoking cessation success was considered for patients who completed 6 months of continuous abstinence. Fagerström test for nicotine dependence (FTND and Issa situational smoking scores were analyzed for nicotine dependence. The CHRNA4 (rs1044396 and rs2236196 and CHRNB2 (rs2072660 and rs2072661 polymorphisms were genotyped by high resolution melting analysis.Patients with rs1044396 CC genotype had lower success rate in treatment with varenicline (29.5% compared with carriers of CT or TT genotypes (50.9% (p=0.007, n=167. The CT or TT genotypes were associated with higher odds ratio for success (OR=1.67, 95%CI=1.10-2.53, p=0.02, in a multivariate model. We did not observe significant differences in the FTND and Issa scores according to the studied polymorphisms. In conclusion, the CHRNA4 rs1044396 is associated with smoking cessation in individuals on varenicline therapy. We suggest that this polymorphism influences the varenicline response, but replications of this finding are needed.

  7. Simplified Antenna Group Determination of RS Overhead Reduced Massive MIMO for Wireless Sensor Networks

    Directory of Open Access Journals (Sweden)

    Byung Moo Lee

    2017-12-01

    Full Text Available Massive multiple-input multiple-output (MIMO systems can be applied to support numerous internet of things (IoT devices using its excessive amount of transmitter (TX antennas. However, one of the big obstacles for the realization of the massive MIMO system is the overhead of reference signal (RS, because the number of RS is proportional to the number of TX antennas and/or related user equipments (UEs. It has been already reported that antenna group-based RS overhead reduction can be very effective to the efficient operation of massive MIMO, but the method of deciding the number of antennas needed in each group is at question. In this paper, we propose a simplified determination scheme of the number of antennas needed in each group for RS overhead reduced massive MIMO to support many IoT devices. Supporting many distributed IoT devices is a framework to configure wireless sensor networks. Our contribution can be divided into two parts. First, we derive simple closed-form approximations of the achievable spectral efficiency (SE by using zero-forcing (ZF and matched filtering (MF precoding for the RS overhead reduced massive MIMO systems with channel estimation error. The closed-form approximations include a channel error factor that can be adjusted according to the method of the channel estimation. Second, based on the closed-form approximation, we present an efficient algorithm determining the number of antennas needed in each group for the group-based RS overhead reduction scheme. The algorithm depends on the exact inverse functions of the derived closed-form approximations of SE. It is verified with theoretical analysis and simulation that the proposed algorithm works well, and thus can be used as an important tool for massive MIMO systems to support many distributed IoT devices.

  8. Is the COL5A1 rs12722 Gene Polymorphism Associated with Running Economy?

    Science.gov (United States)

    Bertuzzi, Rômulo; Pasqua, Leonardo A.; Bueno, Salomão; Lima-Silva, Adriano Eduardo; Matsuda, Monique; Marquezini, Monica; Saldiva, Paulo H.

    2014-01-01

    The COL5A1 rs12722 polymorphism is considered to be a novel genetic marker for endurance running performance. It has been postulated that COL5A1 rs12722 may influence the elasticity of tendons and the energetic cost of running. To date, there are no experimental data in the literature supporting the relationship between range of motion, running economy, and the COL5A1 rs12722 gene polymorphism. Therefore, the main purpose of the current study was to analyze the influence of the COL5A1rs12722 polymorphism on running economy and range of motion. One hundred and fifty (n = 150) physically active young men performed the following tests: a) a maximal incremental treadmill test, b) two constant-speed running tests (10 km•h−1 and 12 km•h−1) to determine the running economy, and c) a sit-and-reach test to determine the range of motion. All of the subjects were genotyped for the COL5A1 rs12722 single-nucleotide polymorphism. The genotype frequencies were TT = 27.9%, CT = 55.8%, and CC = 16.3%. There were no significant differences between COL5A1 genotypes for running economy measured at 10 km•h−1 (p = 0.232) and 12 km•h−1 (p = 0.259). Similarly, there were no significant differences between COL5A1 genotypes for range of motion (p = 0.337). These findings suggest that the previous relationship reported between COL5A1 rs12722 genotypes and running endurance performance might not be mediated by the energetic cost of running. PMID:25188268

  9. Possible association between polymorphisms of VEGFR2 rs2071559 and glioma risk in Chinese population

    Directory of Open Access Journals (Sweden)

    Zhi-fa HUANG

    2014-12-01

    Full Text Available Objective To investigate the potential association between vascular endothelial growth factor receptor 2 (VEGFR2 polymorphisms and risk of glioma in Chinese population.  Methods In this study, blood samples and clinical materials were collected from 504 patients with glioma and 527 gender- and age-matched controls, and epidemiological questionnaire surveys were conducted on them. DNA was extracted from collected blood samples and VEGFR2 rs2071559 genotyping was performed with MassARRAY Sequenom single nucleotide polymorphism (SNP time-of-flight mass spectra chip system. HaploView 4.1 was used to test Hardy-Weinberg equilibrium (HWE and SPSS 17.0 was used for single locus analysis.  Results The results of SNP genotyping showed that the genotyping ratio of VEGFR2 rs2071559 was 99.70%. HWE suggested that the genotype frequency of the controls was in balance (P = 0.451 and was representative of the population. The analysis of allele frequency showed that C allele of VEGFR2 rs2071559 was risk allele of glioma. It could increase the risk of glioma (OR = 1.424, 95%CI: 1.186-1.710; P = 0.000. The analysis of genotype suggested that individuals with VEGFR2 rs2071559 CT or CC genotype showed increased risk of glioma (adjusted OR = 1.407, 95% CI: 1.071-1.847, P = 0.014; adjusted OR = 1.947, 95%CI: 1.294-2.928, P = 0.001.  Conclusions This study indicated that CT and CC genotypes or C allele of VEGFR2 rs2071559 were associated with increased risk of glioma in Chinese population. The role of VEGFR2 rs2071559 polymorphism in glioma susceptibility needs further investigation. doi: 10.3969/j.issn.1672-6731.2014.11.016

  10. SHBG gene polymorphism (rs1799941 associates with metabolic syndrome in children and adolescents.

    Directory of Open Access Journals (Sweden)

    Marquitta J White

    Full Text Available Metabolic syndrome (MetS is a complex disorder characterized by coexistence of several cardiometabolic (CM factors, i.e. hyperlipidemia, obesity, high blood pressure and insulin resistance. The presence of MetS is strongly associated with increased risk of cardiovascular disease (CVD. The syndrome was originally defined as an adult disorder, but MetS has become increasingly recognized in children and adolescents.Genetic variants influence biological components common to the CM factors that comprise MetS. We investigated single locus associations between six single nucleotide polymorphisms (SNPs, previously shown to modulate lipid or sex hormone binding globulin (SHBG levels, with MetS in a Turkish pediatric cohort (37 cases, 323 controls.Logistic regression analysis revealed a significant association between rs1799941, located in SHBG, and MetS (OR = 3.09, p-value = 0.006. The association with MetS remained after sequential adjustment for each CM factor included in the syndrome definition, indicating that the identified association is not being driven by any single trait. A relationship between rs1799941 and SHBG levels, was also discovered, but it was dependent on MetS status. In control subjects, the A allele of rs1799941 associated with a significant increase in SHBG levels (p = 0.012, while in cases there was no association between rs1799941 and SHBG levels (p = 0.963.The significant association between rs1799941 and MetS in children is not contingent on any single CM trait. Additionally, the presence of MetS may abrogate effect of rs1799941 polymorphism on SHBG levels in children.

  11. The Type 2 Diabetes Associated Minor Allele of rs2237895 KCNQ1 Associates with Reduced Insulin Release Following an Oral Glucose Load

    DEFF Research Database (Denmark)

    Brunak, Søren; Holmkvist, J; Banasik, K

    2009-01-01

    Polymorphisms in the potassium channel, voltage-gated, KQT-like subfamily, member 1 (KCNQ1) have recently been reported to associate with type 2 diabetes. The primary aim of the present study was to investigate the putative impact of these KCNQ1 polymorphisms (rs2283228, rs2237892, rs2237895...... for the less common diabetes risk alleles of rs2237892, rs2237897, or rs2283228. CONCLUSION: The minor C-allele of rs2237895 of KCNQ1, which has a prevalence of about 42% among Caucasians was associated with reduced measures of insulin release following an oral glucose load suggesting that the increased risk...

  12. Study of association between pre-senile cataracts and rs11615 of ERCC1, rs13181 of ERCC2, and rs25487 of XRCC1 polymorphisms in a Spanish population.

    Science.gov (United States)

    López-Valverde, Gloria; Garcia-Martin, Elena; Fernández-Mateos, Javier; Cruz-González, Fernando; Larrosa-Povés, José M; Polo-Llorens, Vicente; Pablo-Júlvez, Luis E; González-Sarmiento, Rogelio

    2017-01-01

    The purpose of this study was to attempt to determine if the presence of certain polymorphisms in the DNA repair genes (ERCC1, ERCC2, and XRCC1) is associated with pre-senile cataract development. We performed a retrospective study over three groups of patients. The first group with pre-senile cataract was formed by 72 patients younger than 55 years with cataract surgery. The second group with senile cataract was formed by 101 patients older than 55 years with cataract surgery. And the third group, without cataract, was formed by 42 subjects older than 55 years without lens opacities. We analyzed the presence of SNP rs11615 from ERCC1, rs13181 from ERCC2, and rs25487 from XRCC1 and the relationship between risk factors such as smoking, alcohol intake, hypertension, and diabetes. The comparison of the genotype distribution in ERCC1 and ERCC2 did not show any statistically significant association in any of our analyses (p > 0.05). The comparison of the genotype distribution in XRCC1 within the different groups did not show any statistically significant associations (p > 0.05), except for the comparison between the pre-senile cataract group and the group without cataract, where an increased risk of developing pre-senile cataract for the genotype Gln/Gln (p = 0.029; OR = 1.02-40.67) in recessive inheritance models was observed when adjusting for risk factors. Allelic variants in ERCC1 and ERCC2 are not associated with an increased risk of developing pre-senile cataract. The presence of Gln/Gln in XRCC1 in the pre-senile cataract group with regard to the group without cataract is associated with a major risk of developing pre-senile cataract.

  13. Association Between hTERT rs2736100 Polymorphism and Sensitivity to Anti-cancer Agents

    Directory of Open Access Journals (Sweden)

    Julie eKim

    2013-08-01

    Full Text Available Background: The rs2736100 single nucleotide polymorphism (SNP is located in the intron 2 of human telomerase reverse transcriptase (hTERT gene. Recent genome-wide association studies (GWAS have consistently supported the strong association between this SNP and risk for multiple cancers. Given the important role of the hTERT gene and this SNP in cancer biology, we hypothesize that rs2736100 may also confer susceptibility to anti-cancer drug sensitivity. In this study we aim to investigate the correlation between the rs2736100 genotype and the responsiveness to anti-cancer agents in the NCI-60 cancer cell panel. Methods and Materials: The hTERT rs2736100 was genotyped in the NCI-60 cancer cell lines. The relative telomere length of each cell line was quantified using real-time PCR. The genotype was then correlated with publically available drug sensitivity data of two agents with telomerase-inhibition activity: Geldanamycin (HSP90 inhibitor and RHPS4/BRACO19 (G-quadruplex stabilizer as well as additional 110 commonly used agents with established mechanism of action. The association between rs2736100 and mutation status of TP53 gene was also tested.Results: The C allele of the SNP was significantly correlated with increased sensitivity to RHPS4/BRACO19 with an additive effect (r=-0.35, p=0.009 but not with Geldanamycin. The same allele was also significantly associated with sensitivity to antimitotic agents compared to other agents (p=0.003. The highest correlation was observed between the SNP and paclitaxel (r=-0.36, p=0.005. The telomere length was neither associated with rs2736100 nor with sensitivity to anti-cancer agents. The C allele of rs2736100 was significantly associated with increased mutation rate in TP53 gene (p=0.004.Conclusion: Our data suggested that the cancer risk allele of hTERT rs2736100 polymorphism may also affect the cancer cell response to both TERT inhibitor and anti-mitotic agents, which might be attributed to the elevated

  14. PERFIL HIGIÊNICO-SANITÁRIO DE QUINDINS COMERCIALIZADOS EM PELOTAS/RS

    OpenAIRE

    Graziele Guimarães GRANADA; Carla Rosane Barboza MENDONÇA; Camila PORTO; Fernanda ROSA; Edilson SILVA; Wladimir Padilha Da SILVA; Paulo Roberto KOETZ; Rui Carlos ZAMBIAZI

    2009-01-01

    Foram coletadas 30 amostras de quindins e formadas amostras compostas, de modo que cada amostra representasse uma das 6 principais doçarias da cidade de Pelotas/RS. Avaliou-se a ocorrência de Salmonella spp, Estafilococos coagulase positiva, Bacillus cereus, coliformes a 45ºC e bolores e leveduras em amostras de quindim de docerias da cidade de Pelotas/RS. Foram avaliados, ainda, os valores de pH, sólidos solúveis e acidez. Os resultados foram compatíveis com as exigê...

  15. Experimental research and comparison of LDPC and RS channel coding in ultraviolet communication systems.

    Science.gov (United States)

    Wu, Menglong; Han, Dahai; Zhang, Xiang; Zhang, Feng; Zhang, Min; Yue, Guangxin

    2014-03-10

    We have implemented a modified Low-Density Parity-Check (LDPC) codec algorithm in ultraviolet (UV) communication system. Simulations are conducted with measured parameters to evaluate the LDPC-based UV system performance. Moreover, LDPC (960, 480) and RS (18, 10) are implemented and experimented via a non-line-of-sight (NLOS) UV test bed. The experimental results are in agreement with the simulation and suggest that based on the given power and 10(-3)bit error rate (BER), in comparison with an uncoded system, average communication distance increases 32% with RS code, while 78% with LDPC code.

  16. Developing RESTful services with JAX-RS 2.0, WebSockets, and JSON

    CERN Document Server

    Kalali, Masoud

    2013-01-01

    Written as an easy and practical guide, this book is a crash course on using JAX-RS 2.0, JSON, and WebSockets to develop RESTful services.Getting Started with Developing RESTful Web Services using JAX-RS 2.0, JSON, and WebSockets is a perfect reading source for application developers who are familiar with Java EE and are keen to understand the new HTML5-related functionality introduced in Java EE 7 to improve productivity. To take full advantage of this book, you need to be familiar with Java EE and have some basic understanding of using the GlassFish application server.

  17. Performance Comparison of Latency for RSC-RSC and RS-RSC Concatenated Codes

    Directory of Open Access Journals (Sweden)

    Manish Kumar

    2013-09-01

    Full Text Available In this paper, we compare the latency of serially concatenated convolutional codes. In particular, we compare RSC-RSC   concatenated codes using non-iterative concatenated Viterbi decoding to RS-RSC concatenated codes using concatenation of Viterbi & Berklelamp-Massey decoding. We have also used puncturing to obtain different code rates & analyzed the effect of code rate on latency. On the basis of simulations, it is shown that RSC-RSC code is better than RS-RSC codes for low latency applications. It is also shown that a trade-off is needed between BER & latency for concatenated codes.

  18. Role of the SaeRS two-component regulatory system in Staphylococcus epidermidis autolysis and biofilm formation

    Directory of Open Access Journals (Sweden)

    Francois Patrice

    2011-06-01

    Full Text Available Abstract Background Staphylococcus epidermidis (SE has emerged as one of the most important causes of nosocomial infections. The SaeRS two-component signal transduction system (TCS influences virulence and biofilm formation in Staphylococcus aureus. The deletion of saeR in S. epidermidis results in impaired anaerobic growth and decreased nitrate utilization. However, the regulatory function of SaeRS on biofilm formation and autolysis in S. epidermidis remains unclear. Results The saeRS genes of SE1457 were deleted by homologous recombination. The saeRS deletion mutant, SE1457ΔsaeRS, exhibited increased biofilm formation that was disturbed more severely (a 4-fold reduction by DNase I treatment compared to SE1457 and the complementation strain SE1457saec. Compared to SE1457 and SE1457saec, SE1457ΔsaeRS showed increased Triton X-100-induced autolysis (approximately 3-fold and decreased cell viability in planktonic/biofilm states; further, SE1457ΔsaeRS also released more extracellular DNA (eDNA in the biofilms. Correlated with the increased autolysis phenotype, the transcription of autolysis-related genes, such as atlE and aae, was increased in SE1457ΔsaeRS. Whereas the expression of accumulation-associated protein was up-regulated by 1.8-fold in 1457ΔsaeRS, the expression of an N-acetylglucosaminyl transferase enzyme (encoded by icaA critical for polysaccharide intercellular adhesin (PIA synthesis was not affected by the deletion of saeRS. Conclusions Deletion of saeRS in S. epidermidis resulted in an increase in biofilm-forming ability, which was associated with increased eDNA release and up-regulated Aap expression. The increased eDNA release from SE1457ΔsaeRS was associated with increased bacterial autolysis and decreased bacterial cell viability in the planktonic/biofilm states.

  19. Propagation of ELF Radiation from RS-LC System and Red Sprites in Earth-Ionosphere Waveguide

    Directory of Open Access Journals (Sweden)

    M. K. Paras

    2012-10-01

    Full Text Available In this paper, two different mechanisms return stroke-lateral corona (RS-LC system and red sprites which excite Earth-ionosphere waveguide have been discussed. The electric and magnetic fields from RS-LC system and red spites in the Earth-ionosphere waveguide have been calculated. It has been found that red sprites contribute to the Schumann resonances (SR greatly as compared to the RS-LC system.

  20. TERT rs2736100 genotypes are associated with differential risk of myeloproliferative neoplasms in Swedish and Chinese male patient populations

    OpenAIRE

    Dahlstr?m, Jenny; Liu, Tiantian; Yuan, Xiaotian; Saft, Leonie; Ghaderi, Mehran; Wei, Ya Bin; Lavebratt, Catharina; Li, Ping; Zheng, Chengyun; Bj?rkholm, Magnus; Xu, Dawei

    2016-01-01

    The telomerase reverse transcriptase (TERT) gene rs2736100_C allele has recently been shown to be?associated with an increased risk for myeloproliferative neoplasms (MPNs) among?Caucasians. However, it is unknown if this association is present in other ethnical populations and whether rs2736100 allele frequencies mirror the incidence of MPNs in a population. Here we genotyped TERT rs2736100 variants in 126 Swedish and 101 Chinese MPN patients and their age-, sex-, and ethnically-matched healt...

  1. Role of the SaeRS two-component regulatory system in Staphylococcus epidermidis autolysis and biofilm formation

    Science.gov (United States)

    2011-01-01

    Background Staphylococcus epidermidis (SE) has emerged as one of the most important causes of nosocomial infections. The SaeRS two-component signal transduction system (TCS) influences virulence and biofilm formation in Staphylococcus aureus. The deletion of saeR in S. epidermidis results in impaired anaerobic growth and decreased nitrate utilization. However, the regulatory function of SaeRS on biofilm formation and autolysis in S. epidermidis remains unclear. Results The saeRS genes of SE1457 were deleted by homologous recombination. The saeRS deletion mutant, SE1457ΔsaeRS, exhibited increased biofilm formation that was disturbed more severely (a 4-fold reduction) by DNase I treatment compared to SE1457 and the complementation strain SE1457saec. Compared to SE1457 and SE1457saec, SE1457ΔsaeRS showed increased Triton X-100-induced autolysis (approximately 3-fold) and decreased cell viability in planktonic/biofilm states; further, SE1457ΔsaeRS also released more extracellular DNA (eDNA) in the biofilms. Correlated with the increased autolysis phenotype, the transcription of autolysis-related genes, such as atlE and aae, was increased in SE1457ΔsaeRS. Whereas the expression of accumulation-associated protein was up-regulated by 1.8-fold in 1457ΔsaeRS, the expression of an N-acetylglucosaminyl transferase enzyme (encoded by icaA) critical for polysaccharide intercellular adhesin (PIA) synthesis was not affected by the deletion of saeRS. Conclusions Deletion of saeRS in S. epidermidis resulted in an increase in biofilm-forming ability, which was associated with increased eDNA release and up-regulated Aap expression. The increased eDNA release from SE1457ΔsaeRS was associated with increased bacterial autolysis and decreased bacterial cell viability in the planktonic/biofilm states. PMID:21702925

  2. FOXP3 rs3761548 polymorphism is associated with tacrolimus-induced acute nephrotoxicity in renal transplant patients.

    Science.gov (United States)

    Wu, Zhuo; Xu, Qinxia; Qiu, Xiaoyan; Jiao, Zheng; Zhang, Ming; Zhong, Mingkang

    2017-01-01

    The purpose of this study was to investigate the potential impact of FOXP3 and CCDC22 gene polymorphisms on efficacy and safety of tacrolimus (TAC) in renal transplant patients. Genetic polymorphisms were detected in 114 Chinese renal transplant patients who were on TAC-based maintenance immunosuppression and were followed up for at least 2 years. The relationships between FOXP3 rs3761547, rs3761548, rs3761549, rs2232365, rs2280883, and CCDC22 rs2294021 polymorphisms and clinical outcomes such as acute rejection, TAC-induced acute nephrotoxicity, and pneumonia were investigated by using Kaplan-Meier estimates and multivariate Cox regression analysis. The influence of these gene polymorphisms on the change in estimated glomerular filtration rate over time was evaluated by linear mixed model. Patients with FOXP3 rs3761548 AA and AC genotypes had a 10-fold higher risk for TAC-induced acute nephrotoxicity than those with CC genotype. We did not find any association between other genetic variants and TAC-related outcomes in renal transplant patients. Our study demonstrated the TAC-induced acute nephrotoxicity was associated with FOXP3 rs3761548 polymorphism in renal transplant patients. FOXP3 rs3761548 might serve as a biomarker to prevent TAC toxicity and help progression toward individualized therapy of TAC.

  3. Single-nucleotide polymorphism rs7251246 in ITPKC is associated with susceptibility and coronary artery lesions in Kawasaki disease.

    Directory of Open Access Journals (Sweden)

    Ho-Chang Kuo

    Full Text Available Kawasaki disease (KD is a multi-systemic vasculitis that preferentially affects children. A single nucleotide polymorphism (SNP in inositol 1,4,5-trisphosphate 3-kinase C (ITPKC has been identified to be an important polymorphism in the risk of KD. This study was conducted to comprehensively investigate the associations between all tagging SNPs of ITPKC in the risk of KD in a Taiwanese population. A total of 950 subjects (381 KD patients and 569 controls were recruited. Seven tagging SNPs (rs11673492, rs7257602, rs7251246, rs890934, rs10420685, rs2607420, rs2290692 were selected for TaqMan allelic discrimination assay. Clinical data of coronary artery lesions (CAL and aneurysms were collected for analysis. A significant association was found between rs7251246 in ITPKC and CAL formation. Haplotype analysis for ITPKC polymorphisms also confirmed this association in the patients with CAL and aneurysm formation. This is the first study to identify that SNP rs7251246 in ITPKC is associated with the severity of KD.

  4. PCSK1 rs6232 Is Associated with Childhood and Adult Class III Obesity in the Mexican Population

    Science.gov (United States)

    Villalobos-Comparán, Marisela; Villamil-Ramírez, Hugo; Villarreal-Molina, Teresa; Larrieta-Carrasco, Elena; León-Mimila, Paola; Romero-Hidalgo, Sandra; Jacobo-Albavera, Leonor; Liceaga-Fuentes, Adriana E.; Campos-Pérez, Francisco J.; López-Contreras, Blanca E.; Tusié-Luna, Teresa; del Río-Navarro, Blanca E.; Aguilar-Salinas, Carlos A.; Canizales-Quinteros, Samuel

    2012-01-01

    Background Common variants rs6232 and rs6235 in the PCSK1 gene have been associated with obesity in European populations. We aimed to evaluate the contribution of these variants to obesity and related traits in Mexican children and adults. Methodology/Principal Findings Rs6232 and rs6235 were genotyped in 2382 individuals, 1206 children and 1176 adults. Minor allele frequencies were 0.78% for rs6232 and 19.99% for rs6235. Rs6232 was significantly associated with childhood obesity and adult class III obesity (OR = 3.01 95%CI 1.64–5.53; P = 4×10−4 in the combined analysis). In addition, this SNP was significantly associated with lower fasting glucose levels (P = 0.01) and with increased insulin levels and HOMA-B (P = 0.05 and 0.01, respectively) only in non-obese children. In contrast, rs6235 showed no significant association with obesity or with glucose homeostasis parameters in any group. Conclusion/Significance Although rs6232 is rare in the Mexican population, it should be considered as an important risk factor for extreme forms of obesity. PMID:22737226

  5. Association between exonic polymorphism (rs629849, Gly1619Arg) of IGF2R gene and obesity in Korean population

    OpenAIRE

    Yang, Seung-Ae

    2015-01-01

    The aim of this study is to investigate the relationship between single nucleotide polymorphisms (SNPs) and susceptibility to obesity. A previous study suggested that insulin-like growth factors (IGFs) may affect obesity and that IGFs regulate cellular signals by receptors that include the insulin-like growth factor 1 receptor (IGF1R) and the insulin-like growth factor 2 receptor (IGF2R). In this research, the rs3743262 and rs2229765 SNPs of IGF1R gene and rs629849 and rs1805075 SNPs of IG-F2...

  6. Does company compliance with RS-17 influence the characterization of a casual nexus in expert testimony?

    Directory of Open Access Journals (Sweden)

    Manuela Ribeiro

    2015-02-01

    Full Text Available Objective: To examine whether company compliance with RS-17 influences the characterization of the casual nexus in physical therapists' expert reports of cumulative trauma disorders in the labor court of Pernambuco, Brazil. Method: The sample was composed of seven physical therapists who provided expert testimony regarding cumulative trauma disorder cases in the labor court of Pernambuco, Brazil. Data collection was performed across two stages. In the first stage, the experts answered a sociodemographic survey and requested the identification numbers of recent cases where expert testimony was provided to characterize the causal nexus. In the second stage, the researchers went to the labor court to collect expert testimony data. These experts indicated that of 75 total cases, 31% (N=23 of the companies fulfilled RS-17, whereas 69% (N=52 did not comply with the law. Results: Among the organizations that complied with legislation, 30% of the analyzed expert testimonies showed a positive causal nexus. However, of the companies that did not comply with RS-17, 71% of the expert testimonies revealed a causal nexus. These results indicate that the breach of the law increases the probability that a causal nexus will be determined by 54.8%. Conclusion: The results showed that failure to comply with RS-17 significantly increases the probability that a causal nexus will be determined in physical therapists' expert testimony of cumulative trauma disorders.

  7. Association of rs662799 in APOA5 with CAD in Chinese Han population.

    Science.gov (United States)

    Chen, Hua; Ding, Shifang; Zhou, Mi; Wu, Xiayin; Liu, Xi; Wu, Yun; Liu, Dechao

    2018-01-08

    CAD (Coronary Artery Disease) is a complex disease that influenced by various environmental and genetic factors. Previous studies have found many single nucleotide polymorphisms (SNPs) associated with the risk of CAD occurrence. However, the results are inconsistent. In this study, we aim to investigate genetic etiology in Chinese Han population by analysis of 7 SNPs in lipid metabolism pathway that previously has been reported to be associated with CAD. A total of 631 samples were used in this study, including 435 CAD cases and 196 normal healthy controls. SNP genotyping were conducted via multiplex PCR amplifying followed by NGS (next-generation sequencing). Rs662799 in APOA5 (Apolipoprotein A5) gene was associated with CAD in Chinese Han population (Odds-ratio = 1.374, P-value = 0.03). No significant association was observed between the rest of SNPs and CAD. Stratified association analysis revealed rs5882 was associated with CAD in non-hypertension group (Odds-ratio = 1.593, P-value = 0.023). Rs1800588 was associated with CAD in smoking group (Odds-ratio = 1.603, P-value = 0.035). The minor allele of rs662799 was the risk factor of CAD occurrences in Chinese Han population.

  8. A Study of the Association of Polymorphism rs5860110 and its ...

    African Journals Online (AJOL)

    HP

    as multiple sclerosis [28,29] and rheumatoid arthritis [30]. However, it is first time to report the relationship between SPP1 polymorphism and. AS patients. So the research should be confirmed in large and ethnically divergent population samples to make stronger conclusion about the association between the rs5860110.

  9. Die funksie en boodskap van die 'voorwoord' in 1 Korintiërs

    African Journals Online (AJOL)

    - ging van die evangelie). Soos in 2 Korintiërs en Galasiers ontbreek die getuigskrif oor die gemeente se lewe. Maar ten spyte van die leemte verkry Paulus die ge meente se goedgesindheid met die verwysing na God se ryke gawes aan hulle ...

  10. Optimal Storage Rack Design for a 3-dimensional Compact AS/RS

    NARCIS (Netherlands)

    T. Le-Duc (Tho); M.B.M. de Koster (René); Y. Yu (Yugang)

    2006-01-01

    textabstractIn this paper, we consider a newly-designed compact three-dimensional automated storage and retrieval system (AS/RS). The system consists of an automated crane taking care of movements in the horizontal and vertical direction. A gravity conveying mechanism takes care of the depth

  11. Transgenic tobacco plants expressing BoRS1 gene from Brassica ...

    Indian Academy of Sciences (India)

    Unknown

    Water stress is by far the leading environmental stress limiting crop yields worldwide. Genetic engineering techniques hold great promise for developing crop cultivars with high tolerance to water stress. In this study, the. Brassica oleracea var. acephala BoRS1 gene was transferred into tobacco through ...

  12. Association of a common rs9939609 variant in the fat mass and ...

    Indian Academy of Sciences (India)

    It is a key challenge to conduct reproducibility in genetic research, especially association studies in obesity. While susceptibility of a single-nucleotide polymorphism (SNP), rs9939609, in the fat mass and obesity-associated (FTO) gene to obesity has been reported in various populations, data from Asians is less conclusive.

  13. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

    DEFF Research Database (Denmark)

    Hollestelle, Antoinette; van der Baan, Frederieke H; Berchuck, Andrew

    2015-01-01

    OBJECTIVE: Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3' UTR microRNA binding site, based on suggested associations with increased ovarian and breast cancer risk as well as with survival time. However, prior studies, emphasizing...

  14. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

    DEFF Research Database (Denmark)

    Hollestelle, Antoinette; van der Baan, Frederieke H; Berchuck, Andrew

    2016-01-01

    OBJECTIVE: Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3' UTR microRNA binding site, based on suggested associations with increased ovarian and breast cancer risk as well as with survival time. However, prior studies, emphasizing...

  15. PER2 rs2304672 polymorphism moderates circadian-relevant reward circuitry activity in adolescents.

    Science.gov (United States)

    Forbes, Erika E; Dahl, Ronald E; Almeida, Jorge R C; Ferrell, Robert E; Nimgaonkar, Vishwajit L; Mansour, Hader; Sciarrillo, Samantha R; Holm, Stephanie M; Rodriguez, Eric E; Phillips, Mary L

    2012-03-01

    Reward behavior in animals is influenced by circadian genes, including clock-pathway genes such as Period2 (PER2). Several forms of psychiatric illness are associated with both altered reward function and disturbances in circadian function. The PER2 single nucleotide polymorphism (SNP) rs2304672 has been associated with psychiatric illnesses involving reward dysfunction. Associations among circadian genes, function in neural reward circuits, and circadian-influenced behavior have not yet been studied in humans, however. 90 healthy adolescents underwent functional magnetic resonance imaging during a guessing task with monetary reward, genotyping for two PER2 SNPs (rs2304672, rs2304674), and actigraphy to measure sleep in their home environments. Weekend sleep midpoint, a behavioral index of circadian function, was derived from actigraphy. Puberty was measured by physical exam. The rs2304672 SNP predicted blood oxygenation level-dependent response to monetary reward as constrained by sleep midpoint. Later sleep midpoint was associated with reduced activity in a key component of reward circuitry, medial prefrontal cortex (mPFC; Brodmann area 9/10/32), to reward outcome (p(corrected) circadian genes have a significant impact upon circadian-relevant reward circuitry in humans. These findings have the potential to elucidate gene-brain-behavior relationships underlying reward processing and psychopathology.

  16. Ionotropic glutamate receptors (iGluRs) of the delta family (GluD1 ...

    African Journals Online (AJOL)

    ... such as Neurexin1. This review presents current knowledge regarding the expression, structure and function of Glu delta receptors (GluD1, GluD2) in brain, focusing on synapse formation, function and dysfunction. Keywords: iGluRs; GluD1; GluD2; Synaptogenesis; Autism spectrum disorder (ASD); Schizophrenia (SCZ) ...

  17. Face and emotion expression processing and the serotonin transporter polymorphism 5-HTTLPR/rs22531.

    Science.gov (United States)

    Hildebrandt, A; Kiy, A; Reuter, M; Sommer, W; Wilhelm, O

    2016-06-01

    Face cognition, including face identity and facial expression processing, is a crucial component of socio-emotional abilities, characterizing humans as highest developed social beings. However, for these trait domains molecular genetic studies investigating gene-behavior associations based on well-founded phenotype definitions are still rare. We examined the relationship between 5-HTTLPR/rs25531 polymorphisms - related to serotonin-reuptake - and the ability to perceive and recognize faces and emotional expressions in human faces. For this aim we conducted structural equation modeling on data from 230 young adults, obtained by using a comprehensive, multivariate task battery with maximal effort tasks. By additionally modeling fluid intelligence and immediate and delayed memory factors, we aimed to address the discriminant relationships of the 5-HTTLPR/rs25531 polymorphisms with socio-emotional abilities. We found a robust association between the 5-HTTLPR/rs25531 polymorphism and facial emotion perception. Carriers of two long (L) alleles outperformed carriers of one or two S alleles. Weaker associations were present for face identity perception and memory for emotional facial expressions. There was no association between the 5-HTTLPR/rs25531 polymorphism and non-social abilities, demonstrating discriminant validity of the relationships. We discuss the implications and possible neural mechanisms underlying these novel findings. © 2016 John Wiley & Sons Ltd and International Behavioural and Neural Genetics Society.

  18. Projekt InterTværs og interprofessionalitet som det innovative match

    DEFF Research Database (Denmark)

    Nielsen, Cathrine Sand; Kramer, Tina

    2017-01-01

    Uddannelsesprojektet InterTværs er et bud på fremtidens velfærdsuddannelser og betragtes som et svar på omverdenens krav om sammenhængende patient-/borgerforløb. I projektet forskydes den konventionelle mono-faglighed til en interprofessionel og tværsektoriel orientering mod samarbejde omkring...

  19. No evidence that GATA3 rs570613 SNP modifies breast cancer risk

    NARCIS (Netherlands)

    Johnatty, Sharon E.; Couch, Fergus J.; Fredericksen, Zachary; Tarrell, Robert; Spurdle, Amanda B.; Beesley, Jonathan; Chen, Xiaoqing; Gschwantler-Kaulich, Daphne; Singer, Christian F.; Fuerhauser, Christine; Fink-Retter, Anneliese; Domchek, Susan M.; Nathanson, Katherine L.; Pankratz, Vernon S.; Lindor, Noralane M.; Godwin, Andrew K.; Caligo, Maria A.; Hopper, John; Southey, Melissa C.; Giles, Graham G.; Justenhoven, Christina; Brauch, Hiltrud; Hamann, Ute; Ko, Yon-Dschun; Heikkinen, Tuomas; Aaltonen, Kirsimari; Aittomäki, Kristiina; Blomqvist, Carl; Nevanlinna, Heli; Hall, Per; Czene, Kamila; Liu, Jianjun; Peock, Susan; Cook, Margaret; Platte, Radka; Gareth Evans, D.; Lalloo, Fiona; Eeles, Rosalind; Pichert, Gabriella; Eccles, Diana; Davidson, Rosemarie; Cole, Trevor; Cook, Jackie; Douglas, Fiona; Chu, Carol; Hodgson, Shirley; Paterson, Joan; Hogervorst, Frans B. L.; Rookus, Matti A.; Seynaeve, Caroline; Wijnen, Juul; Vreeswijk, Maaike; Ligtenberg, Marjolijn; van der Luijt, Rob B.; van Os, Theo A. M.; Gille, Hans J. P.; Blok, Marinus J.; Issacs, Claudine; Humphreys, Manjeet K.; McGuffog, Lesley; Healey, Sue; Sinilnikova, Olga; Antoniou, Antonis C.; Easton, Douglas F.; Chenevix-Trench, Georgia; Haites, Neva; Gregory, Helen; Morrison, Patrick; McKeown, Carole; Burgess, Lucy; Donaldson, Alan; Murray, Alexandra; Rogers, Mark; McCann, Emma; Kennedy, John; Daly, Peter; Barton, David; Porteous, Mary; Steel, Michael; Brewer, Carole; Rankin, Julia; Murday, Victoria; Bradshaw, Nicola; Watt, Catherine; Snadden, Lesley; Longmuir, Mark; Izatt, Louise; Langman, Caroline; Dorkins, Huw; Barwell, Julian; Bishop, Timothy; Ellis, Ian; Evans, Gareth; Shenton, Andrew; Male, Alison; Robinson, Anne; Gardiner, Carol; Burn, John; Side, Lucy; Walker, Lisa; Durell, Sarah; Eeles, Ros; Shanley, Susan; Rahman, Naz; Houlston, Richard; Bancroft, Elizabeth; D'Mello, Lucia; Ardern-Jones, Audrey; Quarrell, Oliver; Goff, Sheila; Lucassen, Anneke; Karlsson, Per; Nordling, Margareta; Bergman, Annika; Einbeigi, Zakaria; Stenmark-Askmalm, Marie; Liedgren, Sigrun; Borg, Ake; Loman, Niklas; Olsson, Hakan; Kristoffersson, Ulf; Jernstrom, Helena; Backenhorn, Katja; Lindblom, Annika; Arver, Brita; von Wachenfeldt, Anna; Liljegren, Annelie; Barbany-Bustinza, Gisela; Rantala, Johanna; Gronberg, Henrik; Stattin, Eva-Lena; Emanuelsson, Monica; Bostrom, Hans; Rosenquist Brandell, Richard; Dahl, Niklas; Hogervorst, Frans; Pijpe, Anouk; Verhoef, Senno; van Leeuwen, Flora; van 't Veer, Laura; Rookus, Matti; van den Ouweland, Ans; Schutte, Mieke; Collée, Margriet; Jager, Agnes; Hooning, Maartje; van Asperen, Christi; Devilee, Peter; Hoogerbrugge, Nicoline; van der Luijt, Rob; Ausems, Margreet; Aalfs, Cora; Gille, Hans; Meijers-Heijboer, Hanne; Blok, Rien; Gomez-Garcia, Encarna

    2009-01-01

    GATA-binding protein 3 (GATA3) is a transcription factor that is crucial to mammary gland morphogenesis and differentiation of progenitor cells, and has been suggested to have a tumor suppressor function. The rs570613 single nucleotide polymorphism (SNP) in intron 4 of GATA3 was previously found to

  20. Design og samarbejde på tværs af Kulturer

    DEFF Research Database (Denmark)

    Eriksen, Kaare; Du, Xiangyun

    2005-01-01

    Artiklen beskriver erfaringerne fra en studietur og workshop med designstuderende fra aalborg universitet, Aalborg og Tsinghua University, Beijing, herunder refleksioner over forskelle i studerendes faglige styrker samt de praktiske problemer og muligheder for samarbejde på tværs af sproglige og...

  1. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

    NARCIS (Netherlands)

    A. Hollestelle (Antoinette); F.H. Van Der Baan (Frederieke H.); A. Berchuck (Andrew); S.E. Johnatty (Sharon); K.K.H. Aben (Katja); B.A. Agnarsson (Bjarni); K. Aittomäki (Kristiina); E. Alducci (Elisa); I.L. Andrulis (Irene); H. Anton-Culver (Hoda); N.N. Antonenkova (Natalia); A.C. Antoniou (Antonis C.); C. Apicella (Carmel); V. Arndt (Volker); N. Arnold (Norbert); B.K. Arun (Banu); B. Arver (Brita Wasteson); A. Ashworth (Alan); L. Baglietto (Laura); R. Balleine (Rosemary); E.V. Bandera (Elisa); D. Barrowdale (Daniel); Y.T. Bean (Yukie T.); L. Beckmann (Lars); M.W. Beckmann (Matthias); J. Benítez (Javier); A. Berger (Andreas); R. Berger (Raanan); B. Beuselinck (B.); M. Bisogna (Maria); L. Bjorge (Line); C. Blomqvist (Carl); N.V. Bogdanova (Natalia); A. Bojesen (Anders); S.E. Bojesen (Stig); M.K. Bolla (Manjeet); B. Bonnani (Bernardo); J.S. Brand (Judith S.); H. Brauch (Hiltrud); H. Brenner (Hermann); L.A. Brinton (Louise); A. Brooks-Wilson (Angela); F. Bruinsma (Fiona); J. Brunet (Joan); T. Brüning (Thomas); A. Budzilowska (Agnieszka); C.H. Bunker (Clareann H.); B. Burwinkel (Barbara); R. Butzow (Ralf); S.S. Buys (Saundra S.); M.A. Caligo (Maria); I. Campbell (Ian); J. Carter (Jonathan); J. Chang-Claude (Jenny); S.J. Chanock (Stephen J.); K.B.M. Claes (Kathleen B.M.); J.M. Collee (Margriet); L.S. Cook (Linda S.); F.J. Couch (Fergus); A. Cox (Angela); D.W. Cramer (Daniel); S.S. Cross (Simon); J.M. Cunningham (Julie); C. Cybulski (Cezary); K. Czene (Kamila); F. Damiola (Francesca); A. Dansonka-Mieszkowska (Agnieszka); H. Darabi (Hatef); M. de La Hoya (Miguel); A. DeFazio (Anna); J. Dennis (Joe); P. Devilee (Peter); E. Dicks (Ed); O. Díez (Orland); J.A. Doherty (Jennifer A.); S.M. Domchek (Susan); C.M. Dorfling (Cecilia); T. Dörk (Thilo); I.D.S. Silva (Isabel Dos Santos); A. Du Bois (Andreas); M. Dumont (Martine); A.M. Dunning (Alison); M. Duran (Mercedes); D.F. Easton (Douglas F.); D. Eccles (Diana); R. Edwards (Robert); H. Ehrencrona (Hans); B. Ejlertsen (Bent); A.B. Ekici (Arif); S.D. Ellis (Steve); C. Engel (Christoph); M. Eriksson (Mikael); P.A. Fasching (Peter); L. Feliubadaló (L.); J.D. Figueroa (Jonine); D. Flesch-Janys (Dieter); O. Fletcher (Olivia); A. Fontaine (Annette); S. Fortuzzi (S.); F. Fostira (Florentia); B.L. Fridley (Brooke); M.O.W. Friebel (Mark ); E. Friedman (Eitan); G. Friel (Grace); D. Frost (Debra); J. Garber (Judy); M. García-Closas (Montserrat); S.A. Gayther (Simon); A. Gentry-Maharaj (Aleksandra); A-M. Gerdes (Anne-Marie); G.G. Giles (Graham); R. Glasspool (Rosalind); G. Glendon (Gord); A.K. Godwin (Andrew K.); M.T. Goodman (Marc T.); M. Gore (Martin); M.H. Greene (Mark H.); M. Grip (Mervi); J. Gronwald (Jacek); D. Gschwantler-Kaulich (Daphne); P. Guénel (Pascal); S.R. Guzman (Starr R.); L. Haeberle (Lothar); C.A. Haiman (Christopher A.); P. Hall (Per); S.L. Halverson (Sandra L.); U. Hamann (Ute); T.V.O. Hansen (Thomas); P. Harter (Philipp); J.M. Hartikainen (J.); S. Healey (Sue); R. Hein (Rebecca); P.U. Heitz; B.E. Henderson (Brian); J. Herzog (Josef); M.A. T Hildebrandt (Michelle A.); C.K. Høgdall (Claus); E. Høgdall (Estrid); F.B.L. Hogervorst (Frans); J.L. Hopper (John); K. Humphreys (Keith); T. Huzarski (Tomasz); E.N. Imyanitov (Evgeny N.); C. Isaacs (Claudine); A. Jakubowska (Anna); R. Janavicius (Ramunas); K. Jaworska (Katarzyna); A. Jensen (Allan); U.B. Jensen; N. Johnson (Nichola); A. Jukkola-Vuorinen (Arja); M. Kabisch (Maria); B.Y. Karlan (Beth Y.); V. Kataja (Vesa); N. Kauff (Noah); L.E. Kelemen (Linda); M. Kerin (Michael); L.A.L.M. Kiemeney (Bart); M. Kjaer (Michael); J.A. Knight (Julia); J.P. Knol-Bout (Jacoba P.); I. Konstantopoulou (I.); V-M. Kosma (Veli-Matti); C. Krakstad (Camilla); V. Kristensen (Vessela); K.B. Kuchenbaecker (Karoline); J. Kupryjanczyk (Jolanta); Y. Laitman (Yael); D. Lambrechts (Diether); S. Lambrechts (Sandrina); M.C. Larson (Melissa); A. Lasa (Adriana); P. Laurent-Puig (Pierre); C. Lazaro (Conxi); N. Le (Nhu); L. Le Marchand (Loic); A. Leminen (Arto); K.J. Lester (Kathryn); D.A. Levine (Douglas); J. Li (Jingmei); D. Liang (Dong); A. Lindblom (Annika); N.M. Lindor (Noralane); J. Lissowska (Jolanta); J. Long (Jirong); K.H. Lu (Karen); J. Lubinski (Jan); L. Lundvall (Lene); G. Lurie (Galina); P.L. Mai (Phuong); A. Mannermaa (Arto); S. Margolin (Sara); F. Mariette (F.); F. Marme (Federick); J.W.M. Martens (John); L.F. Massuger (Leon); C. Maugard; S. Mazoyer (Sylvie); L. McGuffog (Lesley); W.P. McGuire; C.A. McLean (Catriona Ann); I. McNeish (Iain); A. Meindl (Alfons); F. Menegaux (Florence); P. Menéndez (Primitiva); J. Menkiszak (Janusz); U. Menon (Usha); A.R. Mensenkamp (Arjen); N. Miller (Nicola); R.L. Milne (Roger); F. Modugno (Francesmary); M. Montagna (Marco); K.B. Moysich (Kirsten B.); H. Mul̈ler (Heiko); A.-M. Mulligan (Anna-Marie); T.A. Muranen (Taru); S.A. Narod (Steven A.); K.L. Nathanson (Katherine); R.B. Ness (Roberta B.); S.L. Neuhausen (Susan); H. Nevanlinna (Heli); P. Neven (Patrick); F. Nielsen (Finn); S.F. Nielsen (Sune); B.G. Nordestgaard (Børge); R. Nussbaum (Robert); K. Odunsi (Kunle); K. Offit (Kenneth); E. Olah; O.I. Olopade (Olufunmilayo I.); J.E. Olson (Janet); S.H. Olson (Sara); J.C. Oosterwijk (Jan); I. Orlow (Irene); N. Orr (Nick); S. Orsulic (Sandra); A. Osorio (Ana); L. Ottini (Laura); J. Paul (James); C.L. Pearce (Celeste); I.S. Pedersen (Inge Sokilde); B. Peissel (Bernard); T. Pejovic (Tanja); L.M. Pelttari (Liisa); J. Perkins (Jo); J. Permuth-Wey (Jenny); P. Peterlongo (Paolo); J. Peto (Julian); C. Phelan (Catherine); K.-A. Phillips (Kelly-Anne); M. Piedmonte (Marion); M.C. Pike (Malcolm C.); R. Platte (Radka); J. Plisiecka-Halasa (Joanna); E.M. Poole (Elizabeth); B. Poppe (Bruce); K. Pykäs (Katri); P. Radice (Paolo); S.J. Ramus (Susan); R. Rebbeck (Timothy); M.W.R. Reed (Malcolm W.R.); G. Rennert (Gad); H. Risch (Harvey); M. Robson (Mark); G. Rodriguez (Gustavo); A. Romero (Atocha); M.A. Rossing (Mary Anne); J.H. Rothstein (Joseph H.); A. Rudolph (Anja); I.B. Runnebaum (Ingo); R. Salani (Ritu); H.B. Salvesen (Helga); E.J. Sawyer (Elinor); J.M. Schildkraut (Joellen); M.K. Schmidt (Marjanka); R.K. Schmutzler (Rita); A. Schneeweiss (Andreas); M. Schoemaker (Minouk); A. Schrauder (André); F.R. Schumacher (Fredrick); I. Schwaab (Ira); G. Scuvera (Giulietta); T.A. Sellers (Thomas A.); G. Severi (Gianluca); C.M. Seynaeve (Caroline); M. Shah (Mitul); M. Shrubsole (Martha); N. Siddiqui (Nadeem); W. Sieh (Weiva); J. Simard (Jacques); C.F. Singer (Christian); O. Sinilnikova (Olga); D. Smeets (Dominiek); C. Sohn (Christof); M. Soller (Maria); H. Song (Honglin); P. Soucy (Penny); M.C. Southey (Melissa); C. Stegmaier (Christa); D. Stoppa-Lyonnet (Dominique); L. Sucheston (Lara); A.J. Swerdlow (Anthony ); I.L. Tangen (Ingvild L.); M.-K. Tea; P.J. Teixeira; K.L. Terry (Kathryn); M.B. Terry (Mary Beth); M. Thomassen (Mads); P.J. Thompson (Pamela J.); L. Tihomirova (Laima); M. Tischkowitz (Marc); A.E. Toland (Amanda); R.A.E.M. Tollenaar (Rob); I. Tomlinson (Ian); D. Torres (Diana); T. Truong (Thérèse); H. Tsimiklis (Helen); N. Tung (Nadine); S. Tworoger (Shelley); J.P. Tyrer (Jonathan); C. Vachon (Celine); L.J. van 't Veer (Laura); A.M. van Altena (Anne); C.J. van Asperen (Christi); D. Van Den Berg (David); A.M.W. van den Ouweland (Ans); H.C. van Doorn (Helena); E. Van Nieuwenhuysen (Els); E.J. van Rensburg (Elizabeth); I. Vergote (Ignace); S. Verhoef; R.A. Vierkant (Robert); J. Vijai (Joseph); A.F. Vitonis (Allison); A. von Wachenfeldt (Anna); C.S. Walsh (Christine); Q. Wang (Qing); S. Wang-Gohrke (Shan); B. Wapenschmidt (Barbara); M. Weischer (Maren); J.N. Weitzel (Jeffrey); C. Weltens (Caroline); N. Wentzensen (N.); A.S. Whittemore (Alice S.); L.R. Wilkens (Lynne R.); R. Winqvist (Robert); A.H. Wu (Anna); X. Wu (Xifeng); H.P. Yang (Hannah P.); D. Zaffaroni (Daniela); M.P. Zamora (Pilar); W. Zheng (Wei); A. Ziogas (Argyrios); G. Chenevix-Trench (Georgia); P.D.P. Pharoah (Paul); M.A. Rookus (Matti); M.J. Hooning (Maartje); E.L. Goode (Ellen L.); Breast Cancer Family Register; EMBRACE; GENICA Network; HEBON; SWE-BRCA

    2016-01-01

    textabstractObjective Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3′ UTR microRNA binding site, based on suggested associations with increased ovarian and breast cancer risk as well as with survival time. However, prior studies,

  2. Strong association of the SNP rs17822931 with wet earwax and ...

    Indian Academy of Sciences (India)

    bromhidrosis harbour the same genotype (AG) in rs17822931 without any pathogenic mutations in ABCC11 exons. We confirmed the relationship between allele A, wet earwax and axillary odour in a Chinese family for the first time. Earwax (cerumen, a secretory product of ceruminous glands) is a dimorphic Mendelian trait ...

  3. RS-Forest: A Rapid Density Estimator for Streaming Anomaly Detection.

    Science.gov (United States)

    Wu, Ke; Zhang, Kun; Fan, Wei; Edwards, Andrea; Yu, Philip S

    Anomaly detection in streaming data is of high interest in numerous application domains. In this paper, we propose a novel one-class semi-supervised algorithm to detect anomalies in streaming data. Underlying the algorithm is a fast and accurate density estimator implemented by multiple fully randomized space trees (RS-Trees), named RS-Forest. The piecewise constant density estimate of each RS-tree is defined on the tree node into which an instance falls. Each incoming instance in a data stream is scored by the density estimates averaged over all trees in the forest. Two strategies, statistical attribute range estimation of high probability guarantee and dual node profiles for rapid model update, are seamlessly integrated into RS-Forest to systematically address the ever-evolving nature of data streams. We derive the theoretical upper bound for the proposed algorithm and analyze its asymptotic properties via bias-variance decomposition. Empirical comparisons to the state-of-the-art methods on multiple benchmark datasets demonstrate that the proposed method features high detection rate, fast response, and insensitivity to most of the parameter settings. Algorithm implementations and datasets are available upon request.

  4. Association of a single-nucleotide polymorphism (rs6180) in GHR ...

    Indian Academy of Sciences (India)

    Keywords. growth hormone receptor; single-nucleotide polymorphism; rs6180; physical traits; autopsied samples. Author Affiliations. Junko Fujihara1 Kaori Kimura-Kataoka1 Toshihiro Yasuda2 Rie Sano3 Yoshihiko Kominato3 Haruo Takeshita1. Faculty of Medicine, Department of Legal Medicine, Shimane University, ...

  5. Design of vancomycin RS-100 nanoparticles in order to increase the intestinal permeability

    Directory of Open Access Journals (Sweden)

    Hadi Valizadeh

    2012-06-01

    Full Text Available Purpose: The purpose of this work was to preparation of vancomycin (VCM biodegradable nanoparticles to improve the intestinal permeability, using water-in-oil-in-water (W/O/W multiple emulsion method. Methods: The vancomycin-loaded nanoparticles were created using double-emulsion solvent evaporation method. Using Eudragit RS100 as a coating material. The prepared nanoparticles were identifyed for their micromeritic and crystallographic properties, drug loading, particle size, drug release, Zeta potential, effective permeability (Peff and oral fractional absorption. Intestinal permeability of VCM nanoparticles was figured out, in different concentrations using SPIP technique in rats. Results: Particle sizes were between 362 and 499 nm for different compositions of VCM-RS-100 nanoparticles. Entrapment efficiency expansed between 63%-94.76%. The highest entrapment efficiency 94.76% was obtained when the ratio of drug to polymer was 1:3. The in vitro release studies were accomplished in pH 7.4. The results showed that physicochemical properties were impressed by drug to polymer ratio. The FT-IR, XRPD and DSC results ruled out any chemical interaction betweenthe drug and RS-100. Effective intestinal permeability values of VCM nanoparticles in concentrations of 200, 300 and 400 µg/ml were higher than that of solutions at the same concentrations. Oral fractional absorption was achieved between 0.419-0.767. Conclusion: Our findings suggest that RS-100 nanoparticles could provide a delivery system for VCM, with enhanced intestinal permeability.

  6. A Study of the Association of Polymorphism rs5860110 and its ...

    African Journals Online (AJOL)

    Purpose: To investigate whether secreted phosphoprotein-1iSPP1j promoter variants are associated with susceptibility to ankylosing spondylitis (AS) in the western China. Methods: The rs5860110 variant of SPP1 promoter was genotyped using direct sequencing in 120 unrelated AS patients and 106 ethnically matched ...

  7. Four Rs for Urban High School Reform: Re-Envisioning, Reculturation, Restructuring, and Remoralization

    Science.gov (United States)

    Hemmings, Annette

    2012-01-01

    A framework for urban public high school reform is presented for managing site-based change through re-envisioning, reculturation, restructuring, and remoralization. The four Rs for reform framework is elucidated through a qualitative study of a low-performing urban public high school that was transformed into a new more successful school. The…

  8. Swift observations of the 2006 outburst of the recurrent nova RS Ophiuchi

    DEFF Research Database (Denmark)

    Vaytet, N. M. H.; O'Brien, T. J.; Bode, M. F.

    2007-01-01

    Following the early Swift X-ray observations of the latest outburst of the recurrent nova RS Ophiuchi in February 2006 (Paper I), we present new 1D hydrodynamical models of the system which take into account all three phases of the remnant evolution. The models suggest a novel way of modelling th...

  9. Optimal Storage Rack Design for a 3-dimensional Compact AS/RS

    NARCIS (Netherlands)

    T. Le-Duc (Tho); M.B.M. de Koster (René)

    2005-01-01

    textabstractIn this paper, we consider a newly-designed automated storage and retrieval system (AS/RS). The system consists of an automated crane taking care of movements in the horizontal and vertical direction. A gravity conveying mechanism takes care of the depth movement. The aim of the research

  10. Unravelling the Nature of HD 81032 – A New RS CVn Binary J. C. ...

    Indian Academy of Sciences (India)

    07 years is inferred from the first three years of the data. Hα and. CaII H and K emissions from ... stars having spectral types in the range from late F through K. In an RS CVn binary, ...... Mewe, R., Kaastra, J. S., Liedahl, D. A. 1995, Legacy, 6, 16.

  11. Next-Generation RS-25 Engines for the NASA Space Launch System

    Science.gov (United States)

    Ballard, Richard O.

    2017-01-01

    The utilization of heritage RS-25 engine, also known as the Space Shuttle Main Engine (SSME), has enabled rapid progress in the development and certification of the NASA Space Launch System (SLS) toward operational flight status. The RS-25 brings design maturity and extensive experience gained through 135 missions, 3000+ ground tests, and over a million seconds total accumulated hot-fire time. In addition, there were also over a dozen functional flight assets remaining from the Space Shuttle program that could be leveraged to support the first four flights. Beyond these initial SLS flights, NASA must have a renewed supply of RS-25 engines that must reflect program affordability imperatives as well as technical requirements imposed by the SLS Block-1B vehicle (i.e., 111% RPL power level, reduced service life). Recognizing the long lead times needed for the fabrication, assembly and acceptance testing of flight engines, design activities are underway at NASA and the RS-25 engine provider, Aerojet Rocketdyne, to improve system affordability and eliminate obsolescence concerns. This paper describes how the achievement of these key objectives are enabled largely by utilizing modern materials and fabrication technologies, but also by innovations in systems engineering and integration (SE&I) practices.

  12. Prostate Cancer Susceptibility Polymorphism rs2660753 Is Not Associated with Invasive Ovarian Cancer

    DEFF Research Database (Denmark)

    Amankwah, Ernest K; Kelemen, Linda E; Wang, Qinggang

    2011-01-01

    BACKGROUND: We previously reported an association between rs2660753, a prostate cancer susceptibility polymorphism, and invasive epithelial ovarian cancer (EOC; OR = 1.2, 95% CI=1.0-1.4, P(trend) = 0.01) that showed a stronger association with the serous histological subtype (OR = 1.3, 95% CI = 1...

  13. rs657075 (CSF2 Is Associated with the Disease Phenotype (BAS-G of Ankylosing Spondylitis

    Directory of Open Access Journals (Sweden)

    Wei-Chiao Chen

    2017-01-01

    Full Text Available Ankylosing spondylitis (AS is a systemic autoimmune disease mainly affecting the lumbar spine and sacroiliac joints, and exhibits peripheral inflammatory arthropathy. More than 25 loci have been identified as associated with AS. Because both AS and rheumatoid arthritis (RA are autoimmune diseases that may share some common genetic factors, we therefore examined if the newly identified RA genetic polymorphisms were associated with AS in a Taiwanese population. In this study, we enrolled 475 AS patients and 11,301 healthy subjects from a Taiwanese biobank as controls. Although none of single-nucleotide polymorphisms (SNPs were associated with the susceptibility to AS, the AS disease index Bath AS Global (BAS-G clinical phenotype was observed as significantly correlated to the AA genotype of rs657075 (CSF2. The significance remains after gender/age/disease duration adjustment and after group categorization by human leukocyte antigen-B 27 (HLA-B27 genotype. We further investigated the possible functions of rs657075 through bioinformatics approaches. Results revealed that polymorphism of rs657075 is able to influence the expression of acyl-CoA synthetase long-chain family member 6 (ACSL6. In conclusion, our study indicated that rs657075 (CSF2 is strongly associated with the AS disease index Bath AS Global (BAS-G clinical phenotype.

  14. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

    NARCIS (Netherlands)

    Hollestelle, Antoinette; van der Baan, Frederieke H.; Berchuck, Andrew; Johnatty, Sharon E.; Aben, Katja K.; Agnarsson, Bjarni A.; Aittomaki, Kristiina; Alducci, Elisa; Andrulis, Irene L.; Anton-Culver, Hoda; Antonenkova, Natalia N.; Antoniou, Antonis C.; Apicella, Carmel; Arndt, Volker; Arnold, Norbert; Arun, Banu K.; Arver, Brita; Ashworth, Alan; Baglietto, Laura; Balleine, Rosemary; Bandera, Elisa V.; Barrowdale, Daniel; Bean, Yukie T.; Beckmann, Lars; Beckmann, Matthias W.; Benitez, Javier; Berger, Andreas; Berger, Raanan; Beuselinck, Benoit; Bisogna, Maria; Bjorge, Line; Blomqvist, Carl; Bogdanova, Natalia V.; Bojesen, Anders; Bojesen, Stig E.; Bolla, Manjeet K.; Bonanni, Bernardo; Brand, Judith S.; Brauch, Hiltrud; Brenner, Hermann; Brinton, Louise; Brooks-Wilson, Angela; Bruinsma, Fiona; Brunet, Joan; Bruning, Thomas; Budzilowska, Agnieszka; Bunker, Clareann H.; Burwinkel, Barbara; Butzow, Ralf; Buys, Saundra S.; Caligo, Maria A.; Campbell, Ian; Carter, Jonathan; Chang-Claude, Jenny; Chanock, Stephen J.; Claes, Kathleen B. M.; Collee, J. Margriet; Cook, Linda S.; Couch, Fergus J.; Cox, Angela; Cramer, Daniel; Cross, Simon S.; Cunningham, Julie M.; Cybulski, Cezary; Czene, Kamila; Damiola, Francesca; Dansonka-Mieszkowska, Agnieszka; Darabi, Hatef; de la Hoya, Miguel; deFazio, Anna; Dennis, Joseph; Devilee, Peter; Dicks, Ed M.; Diez, Orland; Doherty, Jennifer A.; Domchek, Susan M.; Dorfling, Cecilia M.; Dork, Thilo; Dos Santos Silva, Isabel; du Bois, Andreas; Dumont, Martine; Dunning, Alison M.; Duran, Mercedes; Easton, Douglas F.; Eccles, Diana; Edwards, Robert P.; Ehrencrona, Hans; Ejlertsen, Bent; Ekici, Arif B.; Ellis, Steve D.; Engel, Christoph; Eriksson, Mikael; Fasching, Peter A.; Feliubadalo, Lidia; Figueroa, Jonine; Flesch-Janys, Dieter; Fletcher, Olivia; Fontaine, Annette; Fortuzzi, Stefano; Fostira, Florentia; Fridley, Brooke L.; Friebel, Tara; Friedman, Eitan; Friel, Grace; Frost, Debra; Garber, Judy; Garcia-Closas, Montserrat; Gayther, Simon A.; Gentry-Maharaj, Aleksandra; Gerdes, Anne-Marie; Giles, Graham G.; Glasspool, Rosalind; Glendon, Gord; Godwin, Andrew K.; Goodman, Marc T.; Gore, Martin; Greene, Mark H.; Grip, Mervi; Gronwald, Jacek; Kaulich, Daphne Gschwantler; Guenel, Pascal; Guzman, Starr R.; Haeberle, Lothar; Haiman, Christopher A.; Hall, Per; Halverson, Sandra L.; Hamann, Ute; Hansen, Thomas V. O.; Harter, Philipp; Hartikainen, Jaana M.; Healey, Sue; Hein, Alexander; Heitz, Florian; Henderson, Brian E.; Herzog, Josef; Hildebrandt, Michelle A. T.; Bogdan, Claus K.; Hogdall, Estrid; Hogervorst, Frans B. L.; Hopper, John L.; Humphreys, Keith; Huzarski, Tomasz; Imyanitov, Evgeny N.; Isaacs, Claudine; Jakubowska, Anna; Janavicius, Ramunas; Jaworska, Katarzyna; Jensen, Allan; Jensen, Uffe Birk; Johnson, Nichola; Jukkola-Vuorinen, Arja; Kabisch, Maria; Karlan, Beth Y.; Kataja, Vesa; Kauff, Noah; Kelemen, Linda E.; Kerin, Michael J.; Kiemeney, Lambertus A.; Kjaer, Susanne K.; Knight, Julia A.; Knol-Bout, Jacoba P.; Konstantopoulou, Irene; Kosma, Veli-Matti; Krakstad, Camilla; Kristensen, Vessela; Kuchenbaecker, Karoline B.; Kupryjanczyk, Jolanta; Laitman, Yael; Lambrechts, Diether; Lambrechts, Sandrina; Larson, Melissa C.; Lasa, Adriana; Laurent-Puig, Pierre; Lazaro, Conxi; Le, Nhu D.; Le Marchand, Loic; Leminen, Arto; Lester, Jenny; Levine, Douglas A.; Li, Jingmei; Liang, Dong; Lindblom, Annika; Lindor, Noralane; Lissowska, Jolanta; Long, Jirong; Lu, Karen H.; Lubinski, Jan; Lundvall, Lene; Lurie, Galina; Mai, Phuong L.; Mannermaa, Arto; Margolin, Sara; Mariette, Frederique; Marme, Frederik; Martens, John W. M.; Massuger, Leon F. A. G.; Maugard, Christine; Mazoyer, Sylvie; McGuffog, Lesley; McGuire, Valerie; McLean, Catriona; McNeish, Lain; Meindi, Alfons; Menegaux, Florence; Menendez, Primitiva; Menkiszak, Janusz; Menon, Usha; Mensenkamp, Arjen R.; Miller, Nicola; Milne, Roger L.; Modugno, Francesmary; Montagna, Marco; Moysich, Kirsten B.; Mueller, Heiko; Mulligan, Anna Marie; Muranen, Taru A.; Narod, Steven A.; Nathanson, Katherine L.; Ness, Roberta B.; Neuhausen, Susan L.; Nevanlinna, Heli; Neven, Patrick; Nielsen, Finn C.; Nielsen, Sune F.; Nordestgaard, Berge G.; Nussbaum, Robert L.; Odunsi, Kunle; Offit, Kenneth; Olah, Edith; Olopade, Olufunmilayo I.; Olson, Janet E.; Olson, Sara H.; Oosterwijk, Jan C.; Orlow, Irene; Orr, Nick; Orsulic, Sandra; Osorio, Ana; Ottini, Laura; Paul, James; Pearce, Celeste L.; Pedersen, Inge Sokilde; Peissel, Bernard; Pejovic, Tanja; Pelttari, Liisa M.; Perkins, Jo; Permuth-Wey, Jenny; Peterlongo, Paolo; Peto, Julian; Phelan, Catherine M.; Phillips, Kelly-Anne; Piedmonte, Marion; Pike, Malcolm C.; Platte, Radka; Plisiecka-Halasa, Joanna; Poole, Elizabeth M.; Poppe, Bruce; Pylkas, Katri; Radice, Paolo; Ramus, Susan J.; Rebbeck, Timothy R.; Reed, Malcolm W. R.; Rennert, Gad; Risch, Harvey A.; Robson, Mark; Rodriguez, Gustavo C.; Romero, Atocha; Rossing, Mary Anne; Rothstein, Joseph H.; Rudolph, Anja; Runnebaum, Ingo; Salani, Ritu; Salvesen, Helga B.; Sawyer, Elinor J.; Schildkraut, Joellen M.; Schmidt, Marjanka K.; Schmutzler, Rita K.; Schneeweiss, Andreas; Schoemaker, Minouk J.; Schrauder, Michael G.; Schumacher, Fredrick; Schwaab, Ira; Scuvera, Giulietta; Sellers, Thomas A.; Severi, Gianluca; Seynaeve, Caroline M.; Shah, Mitul; Shrubsole, Martha; Siddiqui, Nadeem; Sieh, Weiva; Simard, Jacques; Singer, Christian F.; Sinilnikova, Olga M.; Smeets, Dominiek; Sohn, Christof; Soller, Maria; Song, Honglin; Soucy, Penny; Southey, Melissa C.; Stegmaier, Christa; Stoppa-Lyonnet, Dominique; Sucheston, Lara; Swerdlow, Anthony; Tangen, Ingvild L.; Tea, Muy-Kheng; Teixeira, Manuel R.; Terry, Kathryn L.; Terry, Mary Beth; Thomassen, Mads; Thompson, Pamela J.; Tihomirova, Laima; Tischkowitz, Marc; Toland, Amanda Ewart; Tollenaar, Rob A. E. M.; Tomlinson, Ian; Torres, Diana; Truong, Therese; Tsimiklis, Helen; Tung, Nadine; Tworoger, Shelley S.; Tyrer, Jonathan P.; Vachon, Celine M.; Van 't Veer, Laura J.; van Altena, Anne M.; Van Asperen, C. J.; van den Berg, David; van den Ouweland, Ans M. W.; van Doom, Helena C.; Van Nieuwenhuysen, Els; van Rensburg, Elizabeth J.; Vergote, Ignace; Verhoef, Senno; Vierkant, Robert A.; Vijai, Joseph; Vitonis, Allison F.; von Wachenfeldt, Anna; Walsh, Christine; Wang, Qin; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Weischer, Maren; Weitzel, Jeffrey N.; Weltens, Caroline; Wentzensen, Nicolas; Whittemore, Alice S.; Wilkens, Lynne R.; Winqvist, Robert; Wu, Anna H.; Wu, Xifeng; Yang, Hannah P.; Zaffaroni, Daniela; Zamora, M. Pilar; Zheng, Wei; Ziogas, Argyrios; Chenevix-Trench, Georgia; Pharoah, Paul D. P.; Rookus, Matti A.; Hooning, Maartje J.; Goode, Ellen L.

    Objective. Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3' UTR microRNA binding site, based on suggested associations with increased ovarian and breast cancer risk as well as with survival time. However, prior studies, emphasizing

  15. Association of a single-nucleotide polymorphism (rs6180) in GHR ...

    Indian Academy of Sciences (India)

    The growth hormone receptor (GHR) belongs to the cytokine receptor superfamily and mediates majority of growth hor- mone. Only nonsynonymous single-nucleotide polymor- phism (SNP) rs6180 (p.Ile544Leu; c.1630 A>C) in exon 3 of the GHR gene is highly polymorphic. In the present study, we focussed on analysing ...

  16. NOTA EFEZIËRS 1,7-10 IN DE NIEUWE BIJBELVERTALING

    African Journals Online (AJOL)

    De zogeheten lofzang van de brief aan de Efeziërs, 1,3-14, bestaat uit één lange zin, de langste van het Nieuwe Testament, in een overdadige en overladen stijl. God wordt er geprezen, omdat hij ons in en door. Christus met allerhande geestelijke zegeningen gezegend heeft (v. 3), ons uitverkozen heeft om een heilig ...

  17. Efeziërs 1,7-10 in de nieuwe bijbelvertaling | Lambrecht | Acta ...

    African Journals Online (AJOL)

    De zogeheten lofzang van de brief aan de Efeziërs, 1,3-14, bestaat uit één lange zin, de langste van het Nieuwe Testament, in een overdadige en overladen stijl. God wordt er geprezen, omdat hij ons in en door. Christus met allerhande geestelijke zegeningen gezegend heeft (v. 3), ons uitverkozen heeft om een heilig ...

  18. Association of rs2075876 polymorphism of AIRE gene with rheumatoid arthritis risk.

    Science.gov (United States)

    Feng, Zhong-Jun; Zhang, Shu-Lan; Wen, Hai-Feng; Liang, Yun

    2015-04-01

    Autoimmune regulator (AIRE), a protein encoded by AIRE gene, is a transcriptional factor primarily expressed in medullary thymic epithelial cells (mTECs). It has pivotal role in regulation of human immunology. The mutations of AIRE gene or protein level changes would alter the status of body immunity and therefore onset of diseases. Therefore we aimed at investigating the association of AIRE gene with the risk of rheumatoid arthritis (RA). We genotyped 9 SNPs of AIRE gene of recruited 691 patients of rheumatoid arthritis and 800 healthy people in Chinese Han population. Our results indicated that a variant rs2075876 with minor allele A increased the risk of rheumatoid arthritis (pa=0.008, OR=1.991, 95%CI 1.214-2.919). Other two SNPs rs933150 and rs760426 were borderline-associated with rheumatoid arthritis risk (pa=0.055; pa=0.074, respectively). Furthermore, in correlation analysis of SNPs in AIRE gene with clinical characteristics of rheumatoid arthritis, we found the SNP rs2075876 had significant correlation with CRP concentration (pa=0.020). We might provide a new inside look into the AIRE gene variants in development and progression of rheumatoid arthritis. Copyright © 2015 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.

  19. Design of RS232-powered controller for switched parasitic array antenna

    CSIR Research Space (South Africa)

    Mofolo, MOR

    2013-09-01

    Full Text Available It is often convenient to power up peripheral devices directly from the host device interface, without a need for additional and/or external power supply. In this paper we present a design of the RS232-powered controller for electronically...

  20. Matrix metalloproteinase-1 (MMP-1) rs1799750 polymorphism is associated with nasopharyngeal carcinoma (NPC) risk.

    Science.gov (United States)

    Cao, L; Li, P; Dong, L

    2017-10-31

    A few studies suggested that matrix metalloproteinase 1 (MMP-1) rs1799750 polymorphism was associated with nasopharyngeal carcinoma (NPC) risk. However, other studies did not confirm this result. Thus, we did this meta-analysis to evaluate the association between MMP-1 rs1799750 polymorphism and NPC risk. We searched PubMed and EMBASE. Five studies with 1497 cases and 1643 controls were included in this meta-analysis. Subjects with MMP-1 rs1799750 polymorphism had an decreased NPC risk (OR = 0.79; 95%CI, 0.69-0.91; P = 0.0007; I2 = 70%). In the subgroup analysis by smoking, a marginally significant association was found in non-smokers (OR = 0.73, 95% CI 0.52 - 1.04, P = 0.08; I2 = 0%) but not smokers (OR = 0.59, 95% CI 0.24 - 1.42, P = 0.24; I2 = 83%). In conclusion, this meta-analysis showed that MMP-1 rs1799750 polymorphism was significantly associated with NPC risk.

  1. Association of OPN rs11730582 polymorphism with cancer risk: a meta-analysis

    Directory of Open Access Journals (Sweden)

    He LL

    2016-03-01

    Full Text Available Lanlan He,1,* Yong Wang2,* 1Emergency Department, Zhenjiang First People’s Hospital, Zhenjiang, People’s Republic of China; 2Department of Interventional Radiology and Vascular Surgery, Zhongda Hospital, Southeast University, Nanjing, Jiangsu, People’s Republic of China *Both authors contributed equally to this work Purpose: Several molecular epidemiological studies have investigated the association between OPN rs11730582 C>T polymorphism and cancer risk, but the results are inconsistent. Hence, a meta-analysis was conducted to determine the association of this polymorphism with cancer risk. Materials and methods: The related articles were searched in PubMed, Embase, and Chinese National Knowledge Infrastructure databases. Pooled odds ratios and 95% confidence intervals were calculated to evaluate the strength of the associations. A random-effects model or fixed-effects model was employed depending on the heterogeneity. Results: A total of ten case-control studies involving 2,749 cancer cases and 3,398 controls were included in the meta-analysis. In overall analysis, OPN rs11730582 C>T polymorphism was not associated with cancer risk. In a stratified analysis by cancer type, no significant association was found between OPN rs11730582 C>T polymorphism and the risk of glioma, gastric cancer, and other cancers. Conclusion: This meta-analysis suggests that OPN rs11730582 C>T polymorphism is not associated with cancer susceptibility. Keywords: osteopontin, polymorphism, cancer, risk 

  2. KCNQ1 rs2237895 polymorphism is associated with Gestational Diabetes in Pakistani Women.

    Science.gov (United States)

    Fatima, Syeda Sadia; Chaudhry, Bushra; Khan, Taseer Ahmed; Farooq, Saad

    2016-01-01

    Genetic studies on gestational diabetes (GDM) are relatively scarce; moreover, limited data is available for KCNQ1 polymorphism in Pakistani pregnant women. We aimed to determine the frequency of KCNQ1 rs2237895 in GDM and normal pregnant controls and its association with GDM-related phenotypes. A total of 637 pregnant females (429 controls and 208 cases) in their second trimester were classified according to the International Association of the Diabetes and Pregnancy Study criteria in this study. Their blood samples were genotyped for KCNQ1 SNP rs2237895 using PCR-RFLP method and sequencing. Fasting and two hour-post glucose load blood levels, serum HbA1c, insulin, and anthropometric assessment was performed.: Pearson's Chi Square test, Mann- Whitney U test, and regression analyses were performed. A p-value of 0.05). The rs2237895 showed an association with GDM (OR 2.281; 1.388-3.746: p KCNQ1 rs2237895 polymorphisms might be associated with risk of GDM in Pakistani population and that it is related to higher glucose levels and insulin resistance. Further large scale studies are required to consolidate on the functional aspect of this polymorphism.

  3. Effect of Tryptophan Hydroxylase-2 rs7305115 SNP on suicide attempts risk in major depression

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    Zhang Yuqi

    2010-08-01

    Full Text Available Abstract Background Suicide and major depressive disorders (MDD are strongly associated, and genetic factors are responsible for at least part of the variability in suicide risk. We investigated whether variation at the tryptophan hydroxylase-2 (TPH2 gene rs7305115 SNP may predispose to suicide attempts in MDD. Methods We genotyped TPH2 gene rs7305115 SNP in 215 MDD patients with suicide and matched MDD patients without suicide. Differences in behavioral and personality traits according to genotypic variation were investigated by logistic regression analysis. Results There were no significant differences between MDD patients with suicide and controls in genotypic (AG and GG frequencies for rs7305115 SNP, but the distribution of AA genotype differed significantly (14.4% vs. 29.3%, p p p Conclusions The study suggested that hopelessness, negative life events and family history of suicide were risk factors of attempted suicide in MDD while the TPH2 rs7305115A remained a significant protective predictor of suicide attempts.

  4. Sirtuin 1 gene rs2273773 C >T single nucleotide polymorphism and ...

    African Journals Online (AJOL)

    Background: Sirtuin-1 (SIRT-1), a protein has been found to protect the cells against oxidative stress due to its deacetylase activity. In this investigation, we aimed to study SIRT-1 gene rs2273773 C >T single nucleotide polymorphism and markers of serum protein oxidation (protein carbonyl and sulfhydryl groups) in ...

  5. Beta cell 5'-shifted isomiRs are candidate regulatory hubs in type 2 diabetes.

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    Jeanette Baran-Gale

    Full Text Available Next-generation deep sequencing of small RNAs has unveiled the complexity of the microRNA (miRNA transcriptome, which is in large part due to the diversity of miRNA sequence variants ("isomiRs". Changes to a miRNA's seed sequence (nucleotides 2-8, including shifted start positions, can redirect targeting to a dramatically different set of RNAs and alter biological function. We performed deep sequencing of small RNA from mouse insulinoma (MIN6 cells (widely used as a surrogate for the study of pancreatic beta cells and developed a bioinformatic analysis pipeline to profile isomiR diversity. Additionally, we applied the pipeline to recently published small RNA-seq data from primary human beta cells and whole islets and compared the miRNA profiles with that of MIN6. We found that: (1 the miRNA expression profile in MIN6 cells is highly correlated with those of primary human beta cells and whole islets; (2 miRNA loci can generate multiple highly expressed isomiRs with different 5'-start positions (5'-isomiRs; (3 isomiRs with shifted start positions (5'-shifted isomiRs are highly expressed, and can be as abundant as their unshifted counterparts (5'-reference miRNAs. Finally, we identified 10 beta cell miRNA families as candidate regulatory hubs in a type 2 diabetes (T2D gene network. The most significant candidate hub was miR-29, which we demonstrated regulates the mRNA levels of several genes critical to beta cell function and implicated in T2D. Three of the candidate miRNA hubs were novel 5'-shifted isomiRs: miR-375+1, miR-375-1 and miR-183-5p+1. We showed by in silico target prediction and in vitro transfection studies that both miR-375+1 and miR-375-1 are likely to target an overlapping, but distinct suite of beta cell genes compared to canonical miR-375. In summary, this study characterizes the isomiR profile in beta cells for the first time, and also highlights the potential functional relevance of 5'-shifted isomiRs to T2D.

  6. Tumor necrosis factor alpha rs1800629 polymorphism and risk of cervical lesions: a meta-analysis.

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    Min Li

    Full Text Available BACKGROUND: Tumor necrosis factor- alpha (TNF-α is an inflammatory cytokine which may play important role on the immune response may control the progression of cervical lesions. There is a possible association between TNF-α rs1800629 G/A polymorphism and cervical lesions, but previous studies report conflicting results. We performed a meta-analysis to comprehensively assess the association between TNF-α rs1800629 polymorphism and cervical lesions risk. METHODS: Literature searches of Pubmed, Embase, Web of Science, and Wanfang databases were performed for all publications on the association between TNF-α rs1800629 polymorphism and cervical lesions through December 15, 2012. The pooled odds ratios (ORs with their 95% confidence interval (95%CIs were calculated to assess the strength of the association. RESULTS: Twenty individual case-control studies from 19 publications with a total of 4,146 cases and 4,731 controls were finally included into the meta-analysis. Overall, TNF-α rs1800629 polymorphism was significantly associated with increased risk of cervical lesions under two main genetic comparison models (For A versus G: OR 1.22, 95%CI 1.04-1.44, P = 0.017; for AA versus GG: OR 1.32, 95%CI 1.02-1.71, P = 0.034. Subgroup analysis by ethnicity further showed that there was a significant association between TNF-α rs1800629 polymorphism and increased risk of cervical lesions in Caucasians but not in Asians. Subgroup analysis by the types of cervical lesions showed that there was a significant association between TNF-α rs1800629 polymorphism and increased risk of cervical cancer (For A versus G: OR 1.24, 95%CI 1.05-1.47, P = 0.011; for AA versus GG: OR 1.31, 95%CI 1.01-1.70, P = 0.043; for AA/GA versus GG: OR 1.25, 95%CI 1.01-1.54, P = 0.039. CONCLUSION: The meta-analysis suggests that TNF-α rs1800629 polymorphism is associated with increased risk of cervical lesions, especially in Caucasians.

  7. Retinoschisin (RS1) Interacts with Negatively Charged Lipid Bilayers in the presence of Ca2+: An Atomic Force Microscopy Study

    Science.gov (United States)

    Kotova, Svetlana; Vijayasarathy, Camasamudram; Dimitriadis, Emilios K.; Ikonomou, Laertis; Jaffe, Howard; Sieving, Paul A.

    2010-01-01

    Retinoschisin (RS1) is a retina-specific secreted protein encoding a conserved discoidin domain sequence. As an adhesion molecule, RS1 preserves the retinal cell architecture and promotes visual signal transduction. In young males, loss-of-function mutations in the X- linked retinoschisis gene (RS1) cause X-linked retinoschisis, a form of progressive blindness. Neither the structure of RS1 nor the nature of its anchoring and organization on the plasma membranes is fully understood. The discoidin C2 domains of coagulation factors V and VIII are known to interact with extracellular phosphatidylserine (PS). In this study we have used atomic force microscopy (AFM) to study the interactions of murine retinoschisin (Rs1) with supported anionic lipid bilayers in the presence of Ca2+. The bilayers consisting of a single lipid, PS, and mixtures of lipids with or without PS were used. Consistent with previous X-ray diffraction studies, AFM imaging showed two distinct domains in pure PS bilayers when Ca2+ was present. Upon Rs1 adsorption, these PS and PS-containing mixed bilayers underwent fast and extensive reorganization. Protein localization was ascertained by immunolabeling. AFM imaging showed the Rs1 antibody bound exclusively to the calcium-rich ordered phase of the bilayers pointing to the sequestration of Rs1 within those domains. This was further supported by the increased mechanical strength of these domains after Rs1 binding. Besides, changes in bilayer thickness suggested that Rs1 was partially embedded into the bilayer. These findings support a model whereby the Rs1 protein binds to PS in the retinal cell plasma membranes in a calcium-dependent manner. PMID:20677810

  8. Vascular endothelial growth factor (VEGF)-related single nucleotide polymorphisms rs10738760 and rs6921438 are not associated with diabetic retinopathy (DR) in Slovenian patients with type 2 diabetes mellitus (T2DM).

    Science.gov (United States)

    Terzić, Rifet; Cilenšek, Ines; Zorc Pleskovič, Ruda; Mankoč, Sara; Milutinović, Aleksandra

    2017-10-20

    Diabetic retinopathy (DR) is a complication of diabetes characterized by vascular permeability, increased tissue ischemia, and angiogenesis. One of the most important proteins involved in angiogenesis is vascular endothelial growth factor (VEGF, also known as VEGFA). A previous study demonstrated that two single nucleotide polymorphisms (SNPs), rs6921438 and rs10738760, account for nearly half the variation in circulating VEGF levels. The aim of our study was to assess the association between rs6921438 and rs10738760 and DR in Slovenian patients with type 2 diabetes mellitus (T2DM). This case-control study enrolled 1037 unrelated Slovenian individuals (Caucasians) with T2DM. DR group included 415 T2DM patients with DR, while control group included 622 T2DM patients with no clinical signs of DR. The clinical and laboratory data were obtained from the medical records of the patients. The genotyping of rs6921438 and rs10738760 SNPs was carried out with real-time PCR assays. Significant differences were observed between patients with DR and controls in the duration of diabetes (p DR and control group (p DR in the co-dominant model adjusted for the above-mentioned clinical and laboratory data. In conclusion, VEGF-related SNPs rs10738760 and rs6921438 are not associated with DR in our group of Slovenian patients (Caucasians) with T2DM.

  9. Low penetrance susceptibility to glioma is caused by the TP53 variant rs78378222.

    Science.gov (United States)

    Enciso-Mora, V; Hosking, F J; Di Stefano, A L; Zelenika, D; Shete, S; Broderick, P; Idbaih, A; Delattre, J-Y; Hoang-Xuan, K; Marie, Y; Labussière, M; Alentorn, A; Ciccarino, P; Rossetto, M; Armstrong, G; Liu, Y; Gousias, K; Schramm, J; Lau, C; Hepworth, S J; Schoemaker, M; Strauch, K; Müller-Nurasyid, M; Schreiber, S; Franke, A; Moebus, S; Eisele, L; Swerdlow, A; Simon, M; Bondy, M; Lathrop, M; Sanson, M; Houlston, R S

    2013-05-28

    Most of the heritable risk of glioma is presently unaccounted for by mutations in known genes. In addition to rare inactivating germline mutations in TP53 causing glioma in the context of the Li-Fraumeni syndrome, polymorphic variation in TP53 may also contribute to the risk of developing glioma. To comprehensively evaluate the impact of variation in TP53 on risk, we analysed 23 tagSNPs and imputed 2377 unobserved genotypes in four series totaling 4147 glioma cases and 7435 controls. The strongest validated association signal was shown by the imputed single-nucleotide polymorphism (SNP) rs78378222 (P=6.86 × 10(-24), minor allele frequency ~0.013). Confirmatory genotyping confirmed the high quality of the imputation. The association between rs78378222 and risk was seen for both glioblastoma multiforme (GBM) and non-GBM tumours. We comprehensively examined the relationship between rs78378222 and overall survival in two of the case series totaling 1699 individuals. Despite employing statistical tests sensitive to the detection of differences in early survival, no association was shown. Our data provided strong validation of rs78378222 as a risk factor for glioma but do not support the tenet that the polymorphism being a clinically useful prognostic marker. Acquired TP53 inactivation is a common feature of glioma. As rs78378222 changes the polyadenylation signal of TP53 leading to impaired 3'-end processing of TP53 mRNA, the SNP has strong plausibility for being directly functional contributing to the aetiological basis of glioma.

  10. Effect of Bcl-2 rs956572 polymorphism on age-related gray matter volume changes.

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    Mu-En Liu

    Full Text Available The anti-apoptotic protein B-cell CLL/lymphoma 2 (Bcl-2 gene is a major regulator of neural plasticity and cellular resilience. Recently, the Bcl-2 rs956572 single nucleotide polymorphism was proposed to be a functional allelic variant that modulates cellular vulnerability to apoptosis. Our cross-sectional study investigated the genetic effect of this Bcl-2 polymorphism on age-related decreases in gray matter (GM volume across the adult lifespan. Our sample comprised 330 healthy volunteers (191 male, 139 female with a mean age of 56.2±22.0 years (range: 21-92. Magnetic resonance imaging and genotyping of the Bcl-2 rs956572 were performed for each participant. The differences in regional GM volumes between G homozygotes and A-allele carriers were tested using optimized voxel-based morphometry. The association between the Bcl-2 rs956572 polymorphism and age was a predictor of regional GM volumes in the right cerebellum, bilateral lingual gyrus, right middle temporal gyrus, and right parahippocampal gyrus. We found that the volume of these five regions decreased with increasing age (all P<.001. Moreover, the downward slope was steeper among the Bcl-2 rs956572 A-allele carriers than in the G-homozygous participants. Our data provide convergent evidence for the genetic effect of the Bcl-2 functional allelic variant in brain aging. The rs956572 G-allele, which is associated with significantly higher Bcl-2 protein expression and diminished cellular sensitivity to stress-induced apoptosis, conferred a protective effect against age-related changes in brain GM volume, particularly in the cerebellum.

  11. Extending the humidity measurements of the RS92 radiosonde to the tropopause region

    Science.gov (United States)

    Dirksen, R.; Hurst, D. F.; Kivi, R.; Sommer, M.; Voemel, H.

    2012-12-01

    For several decades radiosondes have been measuring profiles of atmospheric temperature and humidity up to 35-40 km at unmatched vertical resolution, thereby providing essential input to (numerical) weather prediction. In the lower range of the troposphere radiosondes provide accurate measurements of the atmospheric parameters, but above this region the accuracy of radiosonde profiles decreases with altitude, with the predominant error sources being the increased heating of the sensor by solar radiation at low pressures during daytime and the increase of the sensor's response time at low temperatures (time-lag). These effects substantially affect the relative humidity measurements in the upper troposphere and above. Yet, accurate profiles of both temperature and humidity in the upper troposphere/lower stratosphere (UTLS) region are essential for monitoring climate change. The GCOS Reference Upper Air Network (GRUAN) project has developed a data product for the Vaisala RS92 radiosonde that incorporates best possible corrections for, amongst others, radiation and time-lag, as well as best possible uncertainty estimates for these corrections and the resulting profile. In this study we compare the performance of the Vaisala RS92 radiosonde in the UTLS with coincidently measured profiles from a cryogenic frostpoint hygrometer in order to estimate the altitude range in which RS92 humidity measurements are valid. Dual launches were performed at sites in different climate regions, ranging from tropical to arctic (Alajuela, Boulder, Lindenberg, Sodankyla and Yangjiang). We find that humidity measurements from RS92 and the frostpoint hygrometer agree within 5% up to the middle troposphere, and on average within 10% up to -80°C, where the RS92 profile exhibits a dry-bias with respect to the frostpoint hygrometer measurements.

  12. Evolution and Distribution of Teleost myomiRNAs: Functionally Diversified myomiRs in Teleosts.

    Science.gov (United States)

    Siddique, Bhuiyan Sharmin; Kinoshita, Shigeharu; Wongkarangkana, Chaninya; Asakawa, Shuichi; Watabe, Shugo

    2016-06-01

    Myosin heavy chain (MYH) genes belong to a multigene family, and the regulated expression of each member determines the physiological and contractile muscle properties. Among these, MYH6, MYH7, and MYH14 occupy unique positions in the mammalian MYH gene family because of their specific expression in slow/cardiac muscles and the existence of intronic micro(mi) RNAs. MYH6, MYH7, and MYH14 encode miR-208a, miR-208b, and miR-499, respectively. These MYH encoded miRNAs are designated as myomiRs because of their muscle-specific expression and functions. In mammals, myomiRs and host MYHs form a transcription network involved in muscle fiber-type specification; thus, genomic positions and expression patterns of them are well conserved. However, our previous studies revealed divergent distribution and expression of MYH14/miR-499 among teleosts, suggesting the unique evolution of myomiRs and host MYHs in teleosts. Here, we examined distribution and expression of myomiRs and host MYHs in various teleost species. The major cardiac MYH isoforms in teleosts are an intronless gene, atrial myosin heavy chain (amhc), and ventricular myosin heavy chain (vmhc) gene that encodes an intronic miRNA, miR-736. Phylogenetic analysis revealed that vmhc/miR-736 is a teleost-specific myomiR that differed from tetrapoda MYH6/MYH7/miR-208s. Teleost genomes also contain species-specific orthologs in addition to vmhc and amhc, indicating complex gene duplication and gene loss events during teleost evolution. In medaka and torafugu, miR-499 was highly expressed in slow/cardiac muscles whereas the expression of miR-736 was quite low and not muscle specific. These results suggest functional diversification of myomiRs in teleost with the diversification of host MYHs.

  13. Synchronization, TIGoRS, and Information Flow in Complex Systems: Dispositional Cellular Automata.

    Science.gov (United States)

    Sulis, William H

    2016-04-01

    Synchronization has a long history in physics where it refers to the phase matching of two identical oscillators. This notion has been extensively studied in physics as well as in biology, where it has been applied to such widely varying phenomena as the flashing of fireflies and firing of neurons in the brain. Human behavior, however, may be recurrent but it is not oscillatory even though many physiological systems do exhibit oscillatory tendencies. Moreover, much of human behaviour is collaborative and cooperative, where the individual behaviours may be distinct yet contemporaneous (if not simultaneous) and taken collectively express some functionality. In the context of behaviour, the important aspect is the repeated co-occurrence in time of behaviours that facilitate the propagation of information or of functionality, regardless of whether or not these behaviours are similar or identical. An example of this weaker notion of synchronization is transient induced global response synchronization (TIGoRS). Previous work has shown that TIGoRS is a ubiquitous phenomenon among complex systems, enabling them to stably parse environmental transients into salient units to which they stably respond. This leads to the notion of Sulis machines, which emergently generate a primitive linguistic structure through their dynamics. This article reviews the notion of TIGoRS and its expression in several complex systems models including tempered neural networks, driven cellular automata and cocktail party automata. The emergent linguistics of Sulis machines are discussed. A new class of complex systems model, the dispositional cellular automaton is introduced. A new metric for TIGoRS, the excess synchronization, is introduced and applied to the study of TIGoRS in dispositional cellular automata. It is shown that these automata exhibit a nonlinear synchronization response to certain perturbing transients.

  14. Vascular endothelial growth factor (VEGF-related single nucleotide polymorphisms rs10738760 and rs6921438 are not associated with diabetic retinopathy (DR in Slovenian patients with type 2 diabetes mellitus (T2DM

    Directory of Open Access Journals (Sweden)

    Rifet Terzić

    2017-11-01

    Full Text Available Diabetic retinopathy (DR is a complication of diabetes characterized by vascular permeability, increased tissue ischemia, and angiogenesis. One of the most important proteins involved in angiogenesis is vascular endothelial growth factor (VEGF, also known as VEGFA. A previous study demonstrated that two single nucleotide polymorphisms (SNPs, rs6921438 and rs10738760, account for nearly half the variation in circulating VEGF levels. The aim of our study was to assess the association between rs6921438 and rs10738760 and DR in Slovenian patients with type 2 diabetes mellitus (T2DM. This case-control study enrolled 1037 unrelated Slovenian individuals (Caucasians with T2DM. DR group included 415 T2DM patients with DR, while control group included 622 T2DM patients with no clinical signs of DR. The clinical and laboratory data were obtained from the medical records of the patients. The genotyping of rs6921438 and rs10738760 SNPs was carried out with real-time PCR assays. Significant differences were observed between patients with DR and controls in the duration of diabetes (p < 0.001, insulin therapy (p < 0.001, glycated hemoglobin (p = 0.001, body mass index (p = 0.002, total cholesterol (p = 0.002, and low-density lipoprotein cholesterol (p < 0.001. However, we did not observe significant differences in the genotype and allele distribution of the two SNPs, between DR and control group (p < 0.05. Logistic regression analysis showed that rs6921438 and rs10738760 were not independent genetic risk factors for DR in the co-dominant model adjusted for the above-mentioned clinical and laboratory data. In conclusion, VEGF-related SNPs rs10738760 and rs6921438 are not associated with DR in our group of Slovenian patients (Caucasians with T2DM.

  15. Survey of 800+ datasets from human tissue and body fluid reveals XenomiRs are likely artifacts

    DEFF Research Database (Denmark)

    Kang, Wenjing; Bang-Berthelsen, Claus Heiner; Holm, Anja

    2017-01-01

    -study in the field, surveying the presence and abundances of cross-species miRNAs (xenomiRs) in 824 sequencing datasets from various human tissues and body fluids. We find that xenomiRs are commonly present in tissues (17%) and body fluids (69%), however the abundances are low, comprising 0.001% of host human mi...

  16. 9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer

    DEFF Research Database (Denmark)

    Warren, Helen; Dudbridge, Frank; Fletcher, Olivia

    2012-01-01

    Our recent genome-wide association study identified a novel breast cancer susceptibility locus at 9q31.2 (rs865686).......Our recent genome-wide association study identified a novel breast cancer susceptibility locus at 9q31.2 (rs865686)....

  17. A Polymorphism in Hepatocyte Nuclear Factor 1 Alpha, rs7310409, Is Associated with Left Main Coronary Artery Disease

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    Rui Liu

    2014-01-01

    Full Text Available Coronary artery disease is the leading cause of mortality and morbidity in the world. Left main coronary artery disease (LMCAD is a particularly severe phenotypic form of CAD and has a genetic basis. We hypothesized that some inflammation- and hyperhomocysteinemia-related gene polymorphisms may contribute to LMCAD susceptibility in a Chinese population. We studied the association between polymorphisms in the genes hepatocyte nuclear factor 1 alpha (HNF1A; rs7310409, G/A, C-reactive protein (rs1800947 and rs3093059 T/C, methylenetetrahydrofolate reductase (rs1801133, C/T, and methylenetetrahydrofolate dehydrogenase (rs1076991, A/G in 402 LMCAD and 804 more peripheral CAD patients in a Chinese population. Genotyping was performed using the matrix-assisted laser desorption/ionization time-of-flight mass spectrometry method. When the HNF1A rs7310409 GG homozygote genotype was used as the reference group, both the individual, GA and AA, and combined GA/AA genotypes were associated with an increased risk of LMCAD. This single nucleotide polymorphism (rs7310409 is strongly associated with plasma CRP levels. In conclusion, the present study provides evidence that the HNF1A rs7310409 G/A functional polymorphism may contribute to the risk of LMCAD.

  18. The Apolipoprotein E Polymorphism rs7412 Associates with Body Fatness Independently of Plasma Lipids in Middle Aged Men

    Science.gov (United States)

    Tejedor, M. Teresa; Garcia-Sobreviela, Maria Pilar; Ledesma, Marta; Arbones-Mainar, Jose M.

    2014-01-01

    Background The apolipoprotein E (APOE) gene is polymorphic, encoding one of 3 common alleles (ε2, ε3, ε4) produced from combinations of 2 non-synonymous SNPs (rs429358 and rs7412). APOE plays an important role controlling plasma lipids but its association with adipocyte functionality and body fatness remains to be determined. Methods We analyzed fasting plasma lipids and genotyped the two main APOE-SNPs (rs429358 and rs7412), both located in the fourth exon of the APOE, in 4660 Caucasian middle-aged men free of cardiovascular disease. Results The rs7412 SNP, which determines the APOE2 isoform, was significantly associated with Body Mass Index (BMI) and Waist Girth (WG) in a multivariate model accounting for age, smoking status and plasma lipids. BMI and WG were highest in TT homozygotes and lowest in CC homozygotes. This effect was independent of the rs429358 SNP, which failed to show any association with the BMI and WG variables. The odds ratio of being obese (BMI>30) for individuals carrying the APOε2 allele, present in 14% of the cohort and defined by the rs7412 SNP, was also significant in this multivariate model, with an OR of 1.27 (95% CI: 1.01–1.59). Conclusions This study provides an evidence of a lipid-independent association between the APOE SNP rs7412 and body fatness surrogates, BMI and WG, in a large cohort of middle-aged males. PMID:25268647

  19. Association of the intergenic single-nucleotide polymorphism rs10865331 (2p15) with ankylosing spondylitis in a Spanish population.

    Science.gov (United States)

    Sánchez, Alejandra; Szczypiorska, Magdalena; Juanola, Xavier; Bartolomé, Nerea; Gratacós, Jordi; Zarco, Pedro; Collantes, Eduardo; Artieda, Marta; Martínez, Antonio; Tejedor, Diego; Mulero, Juan

    2010-11-01

    A recent genome-wide association study has identified 2 single-nucleotide polymorphisms (SNP) associated with ankylosing spondylitis (AS), rs10865331 (2p15) and rs2242944 (21q22). We assessed the association of these SNP with AS in a Spanish population. Four hundred fifty-six patients with AS fulfilling the modified New York Criteria and 300 healthy donors were analyzed. Result. SNP rs10865331 (allele A: p = 0.039; genotype: p = 0.016) was significantly associated with AS, while no association was found for rs2242944. This is the first study that replicates in an independent cohort the association of the intergenic SNP rs10865331 with susceptibility to AS.

  20. Cão naturalmente infectado por Trypanosoma evansi em Santa Maria, RS, Brasil Dog naturally infected by Trypanosoma evansi in Santa Maria, RS, Brasil

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    Carina Franciscato

    2007-02-01

    Full Text Available Descreve-se, neste trabalho, as alterações hematológicas e o proteinograma de um cão naturalmente infectado por Trypanosoma evansi. Este animal apresentou anemia normocítica normocrômica, leucopenia com linfopenia seguida por neutropenia e linfocitose; trombocitopenia; hiperproteinemia com aumento das frações beta e gama globulinas e hipoalbuminemia. Por ser este o primeiro relato de infecção por T. evansi em cães no município de Santa Maria, RS, destaca-se a sua importância epidemiológica, alertando os médicos veterinários para a existência de reservatórios do parasita na região e para a possibilidade de novos achados laboratoriais.This paper describes the hematological alterations and proteinogram of a dog naturally infected by Trypanosoma evansi. This dog was presented with normochromic-normocytic anemia, leucopenia with lymphopenia followed for neutrophenia and lymphocitosis; and trombocitopenia. Hyperproteinemia with an increase of beta and gamma globulin fractions and hypoalbuminemia. By being the first case reported of T. evansi infection in dogs in Santa Maria, RS, Brazil, the epidemiological significance of such findings will alert the veterinarians to the existence of a possible parasite's reservoir in the region warning to the possibility of new laboratory findings.

  1. Duplex High-Resolution Melting Assay for the Simultaneous Genotyping of IL28B rs12979860 and PNPLA3 rs738409 Polymorphisms in Chronic Hepatitis C Patients

    Directory of Open Access Journals (Sweden)

    Elena L. Enache

    2015-09-01

    Full Text Available Chronic hepatitis C (CHC is a major burden for public health worldwide. Although newer direct-acting antivirals show good efficacy, their cost precludes their wide adoption in resource-limited regions. Thus, strategies are being developed to help identify patients with high susceptibility to response to classic PEG-interferon + ribavirin therapy. IL28B polymorphism rs12979860 C/T is an important predictor for an efficient response to interferon-based therapy. A genetic variant in adiponutrin (PNPLA3 gene, rs738409 C/G, is associated with steatosis, severity, and progression of liver fibrosis in CHC patients, and predicts treatment outcome in difficult-to-cure HCV-infected patients with advanced fibrosis. We developed a rapid and inexpensive assay based on duplex high-resolution melting (HRM for the simultaneous genotyping of these two polymorphisms. The assay validation was performed on synthetic DNA templates and 132 clinical samples from CHC patients. When compared with allele-specific PCR and sequencing, our assay showed 100% (95% CI: 0.9724–1 accuracy, with 100% sensitivity and specificity. Our assay was robust against concentration and quality of DNA samples, melting curve normalization intervals, HRM analysis algorithm, and sequence variations near the targeted SNPs (single nucleotide polymorphism. This duplex assay should provide useful information for patient-oriented management and clinical decision-making in CHC.

  2. The Three Rs--opportunities for improving animal welfare and the quality of scientific research.

    Science.gov (United States)

    Combes, Robert D; Balls, Michael

    2014-09-01

    In 2013, an undercover investigation by the BUAV raised serious concerns about the use, treatment and care of laboratory animals involved in regulated procedures at Imperial College, London. This led to an inquiry, set up by the college, which found deficiencies in the local ethical review process and a general lack of focus on the implementation of the Three Rs (Replacement, Refinement and Reduction). The Three Rs concept is the foundation of UK and EU legislation, but surveys of the published literature show that lack of its adoption is widespread. In spite of numerous guidelines, publications and publicity material extolling the benefits of the Three Rs to both animals and science, as well as substantial advances in the development, validation, and deployment of mechanistically-based non-animal methods, many scientists prefer to use traditional animal-based approaches. In addition, such scientists tend to pay less attention than they should to strategic planning, experimental design and the choice of appropriate statistical procedures. They are often unaware of the existence of replacement test methods to address all or some of their objectives, and are reluctant to develop and use new replacement methods. We explore some possible reasons for these shortcomings. We summarise the welfare and scientific effects of each of the Three Rs, and argue that: a) there is an urgent need for evidence to be made readily accessible to prospective licensees, which directly demonstrates the beneficial effects on animal welfare of the implementation of the Three Rs, separately and in combination, and the direct link this has with the quality of the scientific data obtained; b) a detailed systematic review of this evidence should be undertaken to augment the inadequate content of the prescribed Module 5 licensee training offered currently in the UK; c) such training (including that suggested in new EU-wide proposals) should be much more comprehensive, with stronger emphasis on

  3. CREM variant rs17583959 conferred susceptibility to T1D risk in the Tunisian families.

    Science.gov (United States)

    Zouidi, Ferjani; Bouzid, D; Fourati, H; Fakhfakh, R; Kammoun, T; Hachicha, M; Penha-Gonçalves, C; Masmoudi, H

    2017-01-01

    Type 1 diabetes mellitus (T1D) is a chronic autoimmune disease caused by the destruction of insulin-producing pancreatic β-cells by autoreactive T cells. Studies in animal models, such as the non-obese diabetic (NOD) mouse reveal that this disease is under the control of several genes that encode molecules implicated in regulation of transcription factors and in T cell activation. In order to underline the role of the genes involved in this regulation pathways, we investigated, using the Sequenom MassARRAY platform, 13 single-nucleotide polymorphisms (SNPs) belonging to CREM, IRF5, STAT4, and STAT5a/b genes in 59 T1D Tunisian families. In the current study, we identified an association with rs17583959 (allele G; Z score=2.27; p=0.02; Genotype GG: score=1.96; p=0.04) of CREM gene. In LD analysis a strong LD between the 3 CREM variants (Block 1) was detected; rs2384352 was in complete LD with rs1148247. When haplotypes were constructed between CREM polymorphisms (rs1148247, rs17583959, rs2384352), AGA haplotype (H2) was significantly over-transmitted from parents to affected offspring (Z score=2.988; P=0.002) and may confer a risk for T1D disease. Whereas, AAG haplotype (H5) (Z score=-2.000; p=0.045) was less transmitted than expected to affected children suggesting its protective effect against T1D pathology. No significant association in IRF5, STAT4, and STAT5a/b genes were observed. In conclusion, this study shows an eventually involvement of CREM gene in the development of T1D pathology in Tunisian families. These facts are consistent with a major role for transcription factor genes involved in the immune pathways in the control of autoimmunity. Further researches of association and functional analysis across populations are needed to confirm these findings. Copyright © 2016 European Federation of Immunological Societies. Published by Elsevier B.V. All rights reserved.

  4. Down syndrome related muscle hypotonia: association with COL6A3 functional SNP rs2270669

    Directory of Open Access Journals (Sweden)

    Arpita eDey

    2013-04-01

    Full Text Available Down syndrome (DS, the principal cause for intellectual disability, is also associated with hormonal, immunological, and gastrointestinal abnormalities. Muscle hypotonia (MH and congenital heart diseases (CHD are also frequently observed. Collagen molecules are essential components for maintaining muscle integrity and are formed by the assembly of three chains, alpha 1-3. The type VI collagen is crucial for cardiac as well as skeletal muscles. The COL 1 (VI and 2 (VI chains are encoded by genes located at the 21st chromosome and are expected to have higher dosage in individuals with DS. The  3 (VI chain is encoded by the COL6A3 located at the chromosome 2. We hypothesized that apart from COL6A1 and COL6A2, COL6A3 may also have some role in the MH of subjects with DS. To find out the relevance of COL6A3 in DS associated MH and CHD, we genotyped two SNPs in COL6A3, rs2270669 and rs2270668, in individuals with DS. Subjects with DS were recruited based on the Diagnostic and Statistical Manual for Mental Disorders-IV and having trisomy of the 21st chromosome. Parents of individuals with DS and ethnically matched controls were enrolled for comparison. Informed written consent was obtained for participation. Peripheral blood was used for isolation of genomic DNA. Target genetic loci were studied by DNA sequence analysis. Data obtained was subjected to population- as well as family-based statistical analysis. rs2270668 was found to be nonpolymorphic in the studied population. rs2270669 showed significant association of the ‘C’ allele and ‘CC’ genotype with DS probands having MH (P=0.02. Computational analysis showed that rs2270669 may induce structural and functional alterations in the COL 3 (VI. Interaction of COL3 (VI with different proteins, crucial for muscle integrity, was also noticed by computational methods. This pioneering study on COL6A3 with DS related MH thus indicates that rs2270669 ‘C’ could be considered as a

  5. Analysis of the association between rs12917707 and rs11864909 single nucleotide polymorphisms in the region of the uromoduline gene and chronic kidney disease – a family-based study

    Directory of Open Access Journals (Sweden)

    Joanna Żywiec

    2017-09-01

    Full Text Available Chronic kidney disease (CKD is an important challange for healthcare systems wordwide because of its high prevalence and serious late complications. The results of recent studies suggest an association between CKD development and genetic variation within the uromodulin gene (UMOD. The aim of this study was to investigate associations between two common single nucleotide polymorphisms – rs12917707 and rs11864909, located in the region of UMOD and chronic renal disease. The study group consisted of 109 patients with chronic kidney disease, caused by chronic renal glomerulonephritis or chronic tubulointerstitial nephritis, and 109 pairs of their biological parents. Genotyping for rs12917707 and rs11864909 was carried out using the TaqMan Pre-designed SNP Genotyping Assay. In the transsmission disequilibrium test, allele C of rs11864909 was preferentialy transmitted from parents to the children with chronic tubulointerstinal nephritis. The rs12917707 was not associated with CKD. Neither of the investigated polymorphisms was associated with the progression of chronic kidney disease. The obtained results suggest an association of rs11864909 with chronic kidney disease secondary to chronic tubulointerstinal nephritis

  6. Analysis of the association between rs12917707 and rs11864909 single nucleotide polymorphisms in the region of the uromoduline gene and chronic kidney disease - a family-based study.

    Science.gov (United States)

    Żywiec, Joanna; Kiliś-Pstrusińska, Katarzyna; Tomaszewski, Maciej; Grzeszczak, Władysław

    2017-09-21

    Chronic kidney disease (CKD) is an important challange for healthcare systems wordwide because of its high prevalence and serious late complications. The results of recent studies suggest an association between CKD development and genetic variation within the uromodulin gene (UMOD). The aim of this study was to investigate associations between two common single nucleotide polymorphisms - rs12917707 and rs11864909, located in the region of UMOD and chronic renal disease. The study group consisted of 109 patients with chronic kidney disease, caused by chronic renal glomerulonephritis or chronic tubulointerstitial nephritis, and 109 pairs of their biological parents. Genotyping for rs12917707 and rs11864909 was carried out using the TaqMan Pre-designed SNP Genotyping Assay. In the transsmission disequilibrium test, allele C of rs11864909 was preferentialy transmitted from parents to the children with chronic tubulointerstinal nephritis. The rs12917707 was not associated with CKD. Neither of the investigated polymorphisms was associated with the progression of chronic kidney disease. The obtained results suggest an association of rs11864909 with chronic kidney disease secondary to chronic tubulointerstinal nephritis.

  7. FibromiRs: translating molecular discoveries into new anti-fibrotic drugs.

    Science.gov (United States)

    Pottier, Nicolas; Cauffiez, Christelle; Perrais, Michael; Barbry, Pascal; Mari, Bernard

    2014-03-01

    Fibrosis, or tissue scarring, is defined as excessive and persistent accumulation of extracellular matrix components in response to chronic tissue injury. Fibrosis is a pathological feature characterizing nearly all forms of chronic organ failure. Fibroproliferative disorders of liver, kidney, heart, and lung are frequently associated with considerable morbidity and mortality worldwide. Limited therapeutic options are available; none is yet effective in stopping the ultimate progression of the disease. This has prompted investigations for new molecular targets. Recent studies have shown aberrant expression of miRNAs (fibromiRs) during the development of fibrosis. The challenge now is to understand how these aberrantly expressed miRNAs collaborate to drive fibrogenesis. Progress in understanding how fibromiRs contribute to tissue fibrosis is necessary to translate molecular discoveries into new therapeutics for fibroproliferative diseases. Copyright © 2014 Elsevier Ltd. All rights reserved.

  8. PERFORMANCE COMPARISON OF CYLINDRICAL AS/RS WITH SINGLE AND MULTI LOAD HANDLING DEVICES

    Directory of Open Access Journals (Sweden)

    Vytautas JANILIONIS

    2013-12-01

    Full Text Available This paper proposes the concept of a new type of Cylindrical Automated Storage and Retrieval system (C-AS/RS, which consists of the octagonal shape rack, system input/output (I/O positions, load storage and retrieval mechanism (SRM, which rotates and moves simultaneously and contains a number of load handling devices (LHDs. Physical structure of the single and multi-LHD systems, control algorithms and the performance measures were presented. Simulation modelling techniques, descriptive statistics and analysis of variance were used in this research to identify the effects of different location of I/O positions, the number of LHDs on the SRM and the retrieval request rates to the performance of the C-AS/RS system.

  9. Convergence of FPR-rs3-expressing neurons in the mouse accessory olfactory bulb.

    Science.gov (United States)

    Dietschi, Quentin; Assens, Alexis; Challet, Ludivine; Carleton, Alan; Rodriguez, Ivan

    2013-09-01

    In the mouse, most members of the FPR receptor family are expressed by vomeronasal sensory neurons. The neural circuitry corresponding to this class of chemical sensors is unknown. Taking advantage of the presence of FPR-rs3 on both vomeronasal dendrites and axonal fibers, we visualized the distribution of sensory cells expressing this member of the FPR family, and their corresponding axonal projections in the olfactory bulb. We found a rostrocaudal gradient of receptor choice frequency in the vomeronasal sensory neuroepithelium, and observed a convergence of FPR-rs3 axons into multiple, linked and deeply located glomeruli. These were homogenously innervated, and spatially restricted to the basal portion of the rostral accessory olfactory bulb. This organization, reminiscent of the one that characterizes axonal projections of V1R-expressing neurons, supports a role played by these receptors in the perception of semiochemicals. Copyright © 2013 Elsevier Inc. All rights reserved.

  10. The political culture in Porto Alegre/RS: the PT and PMDB sympathizers

    Directory of Open Access Journals (Sweden)

    Bianca de Freitas Linhares

    2009-12-01

    Full Text Available There are many and different approaches used in Political Science to work with political parties, and most of them with an institutionalist character. In order to broaden the discussion in another direction, this article aims to verify if there are differences of political culture between voters sympathizers of political parties in the city of Porto Alegre/RS. This research helps in understanding the reasons that lead some parties to have greater mobilization of supporters in certain times. For this purpose, data are used from a survey conducted in Porto Alegre/RS in 2005. These data represent the tripod: interest-confidence-political participation. It is the assumption that voters of the left parties have a profile more cooperative, more confidence and interest in politics, hypothesis which is confirmed.

  11. O DESENVOLVIMENTO DO TURISMO: A Rota Colonial Baumschneis em Dois Irmãos/RS

    Directory of Open Access Journals (Sweden)

    Mary Sandra Guerra Ashton

    2011-11-01

    Full Text Available Resumo: Esse trabalho analisa a Rota Colonial Baumschneis, localizada em Dois Irmãos/RS, com o objetivo de investigar a sua contribuição para o desenvolvimento do turismo no município. Pretende revelar a importância da Rota e seu papel no desenvolvimento do turismo municipal. O método utilizado foi o exploratório, com revisão bibliográfica e pesquisa de campo na Rota Colonial. Os resultados mostram o perfil dos proprietários e traçam o histórico do projeto. Palavras-chave: Turismo. Desenvolvimento do Turismo. Rota Colonial Baumschneis. Dois Irmãos/RS

  12. Association study between the Taq1A (rs1800497 polymorphism and schizophrenia in a Brazilian sample

    Directory of Open Access Journals (Sweden)

    Quirino Cordeiro

    2014-08-01

    Full Text Available Schizophrenia is a severe psychotic disorder with recurrent relapse and functional impairment. It results from a poorly understood gene-environment interaction. The Taq1A polymorphism (located in the gene cluster NTAD is a likely candidate for schizophrenia. Its rs1800497 polymorphism was shown to be associated with DRD2 gene expression. Therefore the present work aims to investigate a possible association between schizophrenia and such polymorphism. The compared distribution of the alleles and genotypes of the studied polymorphism was investigated in a Brazilian sample of 235 patients and 834 controls. Genotypic frequencies were in Hardy-Weinberg equilibrium. There was a trend of allelic association between the Taq1A polymorphism (rs1800497 with schizophrenia in the studied sample. However no statistically differences were found between cases and controls when analyzed by gender or schizophrenia subtypes.

  13. MotomiRs: miRNAs in Motor Neuron Function and Disease

    Directory of Open Access Journals (Sweden)

    Zachary C. E. Hawley

    2017-05-01

    Full Text Available MiRNAs are key regulators of the mammalian transcriptome that have been increasingly linked to degenerative diseases of the motor neurons. Although many of the miRNAs currently incriminated as participants in the pathogenesis of these diseases are also important to the normal development and function of motor neurons, at present there is no knowledge of the complete miRNA profile of motor neurons. In this review, we examine the current understanding with respect to miRNAs that are specifically required for motor neuron development, function and viability, and provide evidence that these should be considered as a functional network of miRNAs which we have collectively termed MotomiRs. We will also summarize those MotomiRs currently known to be associated with both amyotrophic lateral sclerosis (ALS and spinal muscular atrophy (SMA, and discuss their potential use as biomarkers.

  14. Impact of PTBP1 rs11085226 on glucose-stimulated insulin release in adult Danes

    DEFF Research Database (Denmark)

    Hansen, Tue H; Vestergaard, Henrik; Jørgensen, Torben

    2015-01-01

    BACKGROUND: The variant rs11085226 (G) within the gene encoding polypyrimidine tract binding protein 1 (PTBP1) was reported to associate with reduced insulin release determined by an oral glucose tolerance test (OGTT) as well as an intravenous glucose tolerance test (IVGTT). The aim of the present......,641 glucose tolerant controls, respectively. Quantitative trait analyses were performed in up to 13,605 individuals subjected to an OGTT or blood samples obtained after an overnight fast, as well as in 596 individuals subjected to an IVGTT. RESULTS: Analyses of fasting and OGTT-derived quantitative traits did...... association with type 2 diabetes. METHODS: PTBP1 rs11085226 was genotyped in 20,911 individuals of Danish Caucasian ethnicity ascertained from 9 study samples. Case control analysis was performed on 5,634 type 2 diabetic patients and 11,319 individuals having a normal fasting glucose level as well as 4...

  15. A Simple Scheme for Belief Propagation Decoding of BCH and RS Codes in Multimedia Transmissions

    Directory of Open Access Journals (Sweden)

    Marco Baldi

    2008-01-01

    Full Text Available Classic linear block codes, like Bose-Chaudhuri-Hocquenghem (BCH and Reed-Solomon (RS codes, are widely used in multimedia transmissions, but their soft-decision decoding still represents an open issue. Among the several approaches proposed for this purpose, an important role is played by the iterative belief propagation principle, whose application to low-density parity-check (LDPC codes permits to approach the channel capacity. In this paper, we elaborate a new technique for decoding classic binary and nonbinary codes through the belief propagation algorithm. We focus on RS codes included in the recent CDMA2000 standard, and compare the proposed technique with the adaptive belief propagation approach, that is able to ensure very good performance but with higher complexity. Moreover, we consider the case of long BCH codes included in the DVB-S2 standard, for which we show that the usage of “pure” LDPC codes would provide better performance.

  16. MetastamiRs: Non-Coding MicroRNAs Driving Cancer Invasion and Metastasis

    Science.gov (United States)

    Lopez-Camarillo, Cesar; Marchat, Laurence A.; Arechaga-Ocampo, Elena; Perez-Plasencia, Carlos; del Moral-Hernandez, Oscar; Castaneda-Ortiz, Elizabeth J.; Rodriguez-Cuevas, Sergio

    2012-01-01

    MicroRNAs (miRNAs) are small non-coding RNAs of ~22 nucleotides that function as negative regulators of gene expression by either inhibiting translation or inducing deadenylation-dependent degradation of target transcripts. Notably, deregulation of miRNAs expression is associated with the initiation and progression of human cancers where they act as oncogenes or tumor suppressors contributing to tumorigenesis. Abnormal miRNA expression may provide potential diagnostic and prognostic tumor biomarkers and new therapeutic targets in cancer. Recently, several miRNAs have been shown to initiate invasion and metastasis by targeting multiple proteins that are major players in these cellular events, thus they have been denominated as metastamiRs. Here, we present a review of the current knowledge of miRNAs in cancer with a special focus on metastamiRs. In addition we discuss their potential use as novel specific markers for cancer progression. PMID:22408395

  17. Reprogrammable multiplexed detection of circulating oncomiRs using hybridization chain reaction.

    Science.gov (United States)

    Rana, Muhit; Balcioglu, Mustafa; Kovach, Maya; Hizir, Mustafa Salih; Robertson, Neil M; Khan, Irfan; Yigit, Mehmet V

    2016-02-28

    In this study, we have coupled the DNA polymerization capability of hybridization chain reaction (HCR) with the plasmonic properties of gold nanoparticles to develop a reprogrammable and multiplexed detection of three circulating oncomiRs (miR-10b, miR-21 and miR-141) dysregulated in various disease states of breast cancer. We have demonstrated that by simply changing the initiator (label-free short single stranded DNA) content of the HCR, while keeping everything else unchanged, the same nanoparticle assembly can be reprogrammed for the detection of the target oncomiRs individually or simultaneously in all possible combinations. We have shown that as little as 20 femtomoles of each oncomiR can be detected visually without using any analytical instrument. Furthermore, we demonstrated that the target oncomiR can be detected in an RNA pool isolated from a liquid biopsy mimic of breast cancer.

  18. Estrogen receptor beta rs1271572 polymorphism and invasive ovarian carcinoma risk

    DEFF Research Database (Denmark)

    Lurie, Galina; Wilkens, Lynne R; Thompson, Pamela J

    2011-01-01

    The association of ovarian carcinoma risk with the polymorphism rs1271572 in the estrogen receptor beta (ESR2) gene was examined in 4946 women with primary invasive ovarian carcinoma and 6582 controls in a pooled analysis of ten case-control studies within the Ovarian Cancer Association Consortium......, tumor histological type, or stage at diagnosis. This pooled analysis suggests that rs1271572 might influence the risk of ovarian cancer, in particular among younger women....... (OCAC). All participants were non-Hispanic white women. Odds ratios (ORs) and 95% confidence intervals (CIs) were estimated using unconditional logistic regression adjusted for site and age. Women with the TT genotype were at increased risk of ovarian carcinoma compared to carriers of the G allele (OR...

  19. Prostate Cancer Susceptibility Polymorphism rs2660753 Is Not Associated with Invasive Ovarian Cancer

    DEFF Research Database (Denmark)

    Amankwah, Ernest K; Kelemen, Linda E; Wang, Qinggang

    2011-01-01

    BACKGROUND: We previously reported an association between rs2660753, a prostate cancer susceptibility polymorphism, and invasive epithelial ovarian cancer (EOC; OR = 1.2, 95% CI=1.0-1.4, P(trend) = 0.01) that showed a stronger association with the serous histological subtype (OR = 1.3, 95% CI = 1.......1-1.5, P(trend) = 0.003). METHODS: We sought to replicate this association in 12 other studies comprising 4,482 cases and 6,894 controls of white non-Hispanic ancestry in the Ovarian Cancer Association Consortium. RESULTS: No evidence for an association with all cancers or serous cancers was observed.......0-1.2, P(trend) = 0.11). There was no evidence for statistical heterogeneity in ORs across the studies. CONCLUSIONS: Although rs2660753 is a strong prostate cancer susceptibility polymorphism, the association with another hormonally related cancer, invasive EOC, is not supported by this replication study...

  20. Association between BDNF rs6265 and Obesity in the Boston Puerto Rican Health Study

    Directory of Open Access Journals (Sweden)

    Xian-Yong Ma

    2012-01-01

    Full Text Available Brain-derived neurotrophic factor (BDNF has been associated with regulation of body weight and appetite. The goal of this study was to examine the interactions of a functional variant (rs6265 in the BDNF gene with dietary intake for obesity traits in the Boston Puerto Rican Health Study. BDNF rs6265 was genotyped in 1147 Puerto Rican adults and examined for association with obesity-related traits. Men (n=242 with the GG genotype had higher BMI (P=0.009, waist circumference (P=0.002, hip (P=0.002, and weight (P=0.03 than GA or AA carriers (n=94. They had twice the risk of being overweight (BMI≥25 relative to GA or AA carriers (OR = 2.08, CI = 1.02–4.23, and P=0.043. Interactions between rs6265 and polyunsaturated fatty acids (PUFA intake were associated with BMI, hip, and weight, and n-3 : n-6 PUFA ratio with waist circumference in men. In contrast, women (n=595 with the GG genotype had significantly lower BMI (P=0.009, hip (P=0.029, and weight (P=0.027 than GA or AA carriers (n=216. Women with the GG genotype were 50% less likely to be overweight compared to GA or AA carriers (OR = 0.05, CI = 0.27–0.91, and P=0.024. In summary, BDNF rs6265 is differentially associated with obesity risk by sex and interacts with PUFA intake influencing obesity traits in Boston Puerto Rican men.

  1. Floristic diversity of Nossa Senhora das Dores neighborhood in Santa Maria, RS

    OpenAIRE

    Natalia Teixeira Schwab; Leonita Beatriz Girardi; Mauricio Neuhaus; Fernanda Alice Antonello Londero Backes; Rogério Antônio Bellé; Janine Farias Menegaes

    2014-01-01

    Wooded areas in the urban context contribute significantly for improving quality of society’s life. Diagnosing such areas is very important for the development of future afforestation planning of a city. Thus, the objective of this work was to identify, by means of a quali-quantitative inventory, the plant species in Nossa Senhora das Dores neighborhood, in Santa Maria, RS, in the period from February to April, 2010. We found 99 botanical species distributed in 47 families, so the...

  2. Galectin-3 and Its Genetic Variation rs4644 Modulate Enterovirus 71 Infection.

    Science.gov (United States)

    Huang, Wen-Chan; Chen, Hung-Lin; Chen, Huan-Yuan; Peng, Kuan-Po; Lee, Yungling; Huang, Li-Min; Chang, Luan-Yin; Liu, Fu-Tong

    2016-01-01

    Galectin-3, a chimeric type β-galactoside-binding protein, is known to modulate viral infection; however, its role in enterovirus 71 (EV71) infection has not been investigated. We generated galectin-3 null rhabdomyosarcoma (RD) cells and evaluated whether EV71 infection would be affected. In galectin-3 null cells, the released and intracellular EV71 viral loads were suppressed after 24 h of infection, and cell death rates were significantly lower, while cell proliferation remained unaltered. In addition, RD cells expressing a nonsynonymous genetic variant of galectin-3, rs4644 (LGALS3 +191C/A, P64H), produced lower virus titers than those with wild-type galectin-3 (C allele). To clarify whether the in vitro viral load reduction correlates with clinical severity, we enrolled children with laboratory-confirmed EV71 infection. Since hyperglycemia is an indicator of severe EV71 infection in children, 152 of 401 enrolled children had glucose examinations at admission, and 59 subjects had serum glucose levels ≥ 150 mg/dL. In comparison to the rs4644 AA genotype (2.2 ± 0.06 log10 mg/dL), serum glucose levels during EV71 infection were higher in patients with CC (2.4 ± 0.17 log10 mg/dL, p = 0.03) and CA (2.4 ± 0.15 log10 mg/dL, p = 0.02) genotypes, respectively. These findings suggest that the rs4644 AA genotype of galectin-3 might exert a protective effect. In summary, galectin-3 affects EV71 replication in our cellular model and its variant, rs4644, is associated with hyperglycemia in the clinical setting. The underlying mechanism and its potential therapeutic application warrant further investigation.

  3. The IRS1 rs2943641 variant and risk of future cancer among morbidly obese individuals.

    Science.gov (United States)

    Maglio, Cristina; Ericson, Ulrika; Burza, Maria Antonella; Mancina, Rosellina Margherita; Pirazzi, Carlo; Assarsson, Johanna Andersson; Sjöholm, Kajsa; Baroni, Marco Giorgio; Svensson, Per-Arne; Montalcini, Tiziana; Pujia, Arturo; Sjöström, Lars; Wiklund, Olov; Carlsson, Lena M S; Borén, Jan; Orho-Melander, Marju; Romeo, Stefano

    2013-04-01

    Obesity and insulin resistance are risk factors for cancer development. The IRS1 rs2943641 genetic variant has been widely associated with insulin resistance. The aim of the study was to examine whether the IRS1 rs2943641 associates with cancer incidence in obese individuals. The IRS1 rs2943641 was genotyped in participants from the Swedish Obese Subjects (SOS) study, an intervention trial on the effect of bariatric surgery on mortality and morbidity compared with usual care and in the population-based Malmö Diet and Cancer (MDC) cohort. In both studies, the median follow-up for cancer incidence was about 15 years. Cancer incidence was assessed in both the SOS and the MDC cohorts through national and local registers. The IRS1 T allele was associated with lower insulin resistance in both the SOS and the MDC studies. A lower cancer incidence was found in T allele carriers from the SOS control group (hazard ratio [HR] 0.77, 95% confidence interval [CI] 0.62-0.96; P = .021) and was restricted to morbidly obese individuals (HR 0.67, 95% CI 0.50-0.91; P = .011). No evidence of such association was detected in the surgery group (interaction P = .005). In the MDC cohort, a nonsignificant tendency for lower cancer incidence in T allele carriers was observed only in morbidly obese individuals. A meta-analysis of morbidly obese individuals (body mass index > 40 kg/m(2)) from the two cohorts strengthened the evidence for the association (HR 0.66, 95% CI 0.50-0.87; P = .004). Our results suggest that the T allele of rs2943641 near IRS1 may associate with lower cancer incidence in morbidly obese individuals.

  4. rs12255372 variant of TCF7L2 gene is protective for obesity in Mexican children.

    Science.gov (United States)

    Klünder-Klünder, Miguel; Mejía-Benitez, María Aurora; Flores-Huerta, Samuel; Burguete-García, Ana I; García-Mena, Jaime; Cruz, Miguel

    2011-08-01

    Variants in the transcription factor 7-like 2 (TCF7L2) gene are consistently associated with type 2 diabetes in adults, but the association of TCF7L2 with weight-related traits and body fat in humans is unclear. The aim of this study was to determine the relationship between the TCF7L2 gene (rs12255372) and obese phenotype in Mexican school-age children. The study was performed in schools in Mexico City; 186 obese and 194 control children were studied. Fasting insulin and glucose, total cholesterol, LDL-C, HDL-C and triglycerides concentration were determined. The variant rs12255372 of the TCF7L2 gene was genotyped. We used age- and sex-adjusted linear models to test for association with metabolic measurements with this variant. Genotype of the TCF7L2 rs12255372 gene was associated with lower fasting plasma glucose (p = 0.001) and lower homeostasis model assessment of insulin resistance (HOMA-R; p = 0.001) in nonobese children. Heterozygous carriers for this variant were more prevalent in lean children (32.5%) than in the obese group (23.7%), which resulted in a strong protective effect for the normal weight condition (OR = 0.56, 0.32-0.97). TCF7L2 rs12255372 polymorphism protects Mexican children from obesity. Further research in other large, population-based studies is needed to replicate these findings. Copyright © 2011 IMSS. Published by Elsevier Inc. All rights reserved.

  5. Lidt om DØRS' selvforståelse: om lønrelationerne i SMEC

    DEFF Research Database (Denmark)

    Harck, Søren H.

    1997-01-01

    According to the interpretation of the Danish macroeconomic model SMEC that is being offered by its originator (The Secretariate of The Economic Council (DØRS)) the model entails a vertical long-run supply curve. Closer scrutiny, however, reveals this conception to be devoid of any foundation at ...... does in fact entail a horizontal Phillips curve, the level of which is determined by the exchange rate adjusted foreign inflation rate. Evidently, the policy implications of getting the interpretation right are, potentially, huge....

  6. MODEL PENDIDIKAN MULTIKULTURAL RAMAH DI SEKOLAH ETHNO-RELIGIO SEGREGATION (E-RS) KOTA PONTIANAK

    OpenAIRE

    Iwan Supardi; Sumarno Sumarno

    2014-01-01

    Penelitian ini bertujuan untuk memetakan pola dan mengukur intensitas hubungan antar-kelompok siswa etnis Melayu, Dayak, Tionghoa, dan Madura di empat sekolah swasta berbasis etno-religi (ethno-religio segregation/E-RS) di Kota Pontianak: SMA Sultan Syarif Abdurrahman (Melayu-Islam), SMA Yayasan Pendidikan Kristen (YPK)[Dayak-Nasrani], SMA Kristen Immanuel (Tionghoa-Nasrani, Konghucu, Budha), dan Madrasah Aliyah Swasta (MAS) Al-Anwar (Madura-Islam), berdasarkan sikap dan perilaku berprasangka...

  7. Die kontekstuele funksie van Hebreërs 13:8

    African Journals Online (AJOL)

    29 Jul 2015 ... daar nie formele aanwysings in vers 8 (of v. 9) is (bv 'n γάρ, οὖν, ὥστε, ens) wat 'n aanduiding gee van hoe hierdie vers met sy konteks skakel nie. Verder pas vers 8 met die eerste oogopslag ook nie inhoudelik by verse 7 en 9 nie. Die leser moet gevolglik sy eie afleidings uit die argument van Hebreërs 13 ...

  8. Efisiensi Pendayagunaan Tempat Tidur dengan Metode Grafik BarberJohnson di Rs Lancang Kuning

    Directory of Open Access Journals (Sweden)

    Edi Susilo

    2012-05-01

    Full Text Available Pendayagunaan tempat tidur di rumah sakit seharusnya efisien dari aspek ekonomi maupun aspek medis. Untuk menyatukan dua aspek tersebut maka diperlukan suatu parameter yang tepat, yaitu; BOR, AvLOS, TOI, dan BTO. Menyajikan keempat parameter tersebut dapat digunakan suatu metode yaitu grafik barber-johnson, dimana kita dapat melihat tingkat efisiensi pendayagunaan tempat tidur di rumah sakit dengan jelas dan keempat parameter dipertemukan dalam satu titik. Penelitian ini bertujuan untuk menilai tingkat efisiensi pendayagunaan tempat tidur di RS Lancang Kuning Pekanbaru tahun 2011. Penelitian ini menggunakan jenis penelitian deskriptif. Populasi penelitian ini adalah formulir (RP 1 dan RL 1 periode tahun 2011, pengambilan sampel dengan menggunakan teknik total sampling. Teknik pengumpulan data menggunakan observasi dan dokumentasi, analisis data dilakukan secara univariat. Dari hasil penelitian ditemukan bahwa pendayagunaan tempat tidur di RS Lancang Kuning Pekanbaru tahun 2011 dengan metode grafik BJ titik keempat parameter tidak bertemu pada satu titik melainkan terpisah 2 bagian, angka (AvLOS 8 hari dan TOI 11 hari sedangkan (BOR 50% dan BTO 15 kali. Hal ini kemungkinan disebabkan adanya kasalahan dalam sensus harian pasien rawat inap yang menjadi sumber data primer. Temuan ini diperkuat dengan tidak berjalannya sensus harian pasien rawat inap di RS Lancang Kuning Pekanbaru dengan baik. Selain itu, bila dilihat dari masing-masing titik parameter dalam grafik BJ berada di luar daerah efisien yang berarti menunjukan sistem yang berjalan kurang baik. Kesimpulan penelitian ini adalah bahwa pendayagunaan tempat tidur di RS Lancang Kuning Pekanbaru pada tahun 2011 masih kurang efisien. Disarankan agar pihak manajemen mengevaluasi akan kurangnya permintaan tempat tidur dan unit rekam medis agar menjalankan kegiatan sensus harian pasien rawat inap sesuai dengan ketentuan

  9. The ABCB1, rs9282564, AG and TT Genotypes and the COMT, rs4680, AA Genotype are Less Frequent in Deceased Patients with Opioid Addiction than in Living Patients with Opioid Addiction

    DEFF Research Database (Denmark)

    Christoffersen, Dorte J; Damkier, Per; Feddersen, Søren

    2016-01-01

    between DOA and LOA were statistically significantly different (p=0.027). The COMT rs4680 AA genotype frequencies were 25%, 35% and 31% in DOA, LOA and HV, respectively, and the difference between DOA and LOA was also statistically significant (p= 0.0028). In conclusion, this study generated two...... hypotheses suggesting possible associations of a reduced risk of death and carrying, respectively, the ABCB1 rs9282564 AG and TT genotypes and the COMT rs4680 AA genotype among patients with OA. These findings should be confirmed in independent cohorts, and if a causal relationship between these variants...

  10. Individual differences in allocation of funds in the dictator game associated with length of the arginine vasopressin 1a receptor RS3 promoter region and correlation between RS3 length and hippocampal mRNA.

    Science.gov (United States)

    Knafo, A; Israel, S; Darvasi, A; Bachner-Melman, R; Uzefovsky, F; Cohen, L; Feldman, E; Lerer, E; Laiba, E; Raz, Y; Nemanov, L; Gritsenko, I; Dina, C; Agam, G; Dean, B; Bornstein, G; Ebstein, R P

    2008-04-01

    Human altruism is a widespread phenomenon that puzzled evolutionary biologists since Darwin. Economic games illustrate human altruism by showing that behavior deviates from economic predictions of profit maximization. A game that most plainly shows this altruistic tendency is the Dictator Game. We hypothesized that human altruistic behavior is to some extent hardwired and that a likely candidate that may contribute to individual differences in altruistic behavior is the arginine vasopressin 1a (AVPR1a) receptor that in some mammals such as the vole has a profound impact on affiliative behaviors. In the current investigation, 203 male and female university students played an online version of the Dictator Game, for real money payoffs. All subjects and their parents were genotyped for AVPR1a RS1 and RS3 promoter-region repeat polymorphisms. Parents did not participate in online game playing. As variation in the length of a repetitive element in the vole AVPR1a promoter region is associated with differences in social behavior, we examined the relationship between RS1 and RS3 repeat length (base pairs) and allocation sums. Participants with short versions (308-325 bp) of the AVPR1a RS3 repeat allocated significantly (likelihood ratio = 14.75, P = 0.001, df = 2) fewer shekels to the 'other' than participants with long versions (327-343 bp). We also implemented a family-based association test, UNPHASED, to confirm and validate the correlation between the AVPR1a RS3 repeat and monetary allocations in the dictator game. Dictator game allocations were significantly associated with the RS3 repeat (global P value: likelihood ratio chi(2) = 11.73, df = 4, P = 0.019). The association between the AVPR1a RS3 repeat and altruism was also confirmed using two self-report scales (the Bardi-Schwartz Universalism and Benevolence Value-expressive Behavior scales). RS3 long alleles were associated with higher scores on both measures. Finally, long AVPR1a RS3 repeats were associated with

  11. The NOD2 p.Leu1007fsX1008 mutation (rs2066847 is a stronger predictor of the clinical course of Crohn's disease than the FOXO3A intron variant rs12212067.

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    Fabian Schnitzler

    Full Text Available Very recently, a sub-analysis of genome-wide association scans revealed that the non-coding single nucleotide polymorphism (SNP rs12212067 in the FOXO3A gene is associated with a milder course of Crohn's disease (CD (Cell 2013;155:57-69. The aim of our study was to evaluate the clinical value of the SNP rs12212067 in predicting the severity of CD by correlating CD patient genotype status with the most relevant complications of CD such as stenoses, fistulas, and CD-related surgery.We genotyped 550 CD patients for rs12212067 (FOXO3A and the three common CD-associated NOD2 mutations rs2066844, rs2066847, and rs2066847 and performed genotype-phenotype analyses.No significant phenotypic differences were found between the wild-type genotype TT of the FOXO3A SNP rs12212067 and the minor genotypes TG and GG independently from NOD2 variants. The allele frequency of the minor G allele was 12.7%. Age at diagnosis, disease duration, body mass index, surgery rate, stenoses, fistula, need for immunosuppressive therapy, and disease course were not significantly different. In contrast, the NOD2 mutant p.Leu1007fsX1008 (rs2066847 was highly associated with penetrating CD (p = 0.01, the development of fistulas (p = 0.01 and stenoses (p = 0.01, and ileal disease localization (p = 0.03. Importantly, the NOD2 SNP rs2066847 was a strong separator between an aggressive and a mild course of CD (p = 2.99×10(-5, while the FOXO3A SNP rs12212067 did not separate between mild and aggressive CD behavior in our cohort (p = 0.35. 96.2% of the homozygous NOD2 p.Leu1007fsX1008 carriers had an aggressive disease behavior compared to 69.3% of the patients with the NOD2 wild-type genotype (p = 0.007.In clinical practice, the NOD2 variant p.Leu1007fsX1008 (rs2066847, in particular in homozygous form, is a much stronger marker for a severe clinical phenotype than the FOXO3A rs12212067 SNP for a mild disease course on an individual patient level despite

  12. Vitamin D3 receptor ( VDR gene rs2228570 (Fok1 and rs731236 (Taq1 variants are not associated with the risk for multiple sclerosis: results of a new study and a meta-analysis.

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    Elena García-Martín

    Full Text Available BACKGROUND: Some epidemiological, genetic, and experimental data suggest a possible role of vitamin D in the pathogenesis of multiple sclerosis (MS and in experimental autoimmune encephalomyelitis. Data on the possible contribution of several single nucleotide polymorphisms (SNP in the vitamin D receptor (VDR gene to the risk for MS are controversial. Several studies suggested an interaction between some SNPs in the VDR gene and HLADRB1*1501 in the risk for MS. OBJECTIVES: The aim of this study was to investigate a possible influence of the SNPs rs2228570 and rs731236 in the VDR gene in the risk for MS. A secondary objective was to address the possible interactions between VDR genes and HLADRB1*1501. METHODS: We analyzed the allelic and genotype frequency of VDR rs2228570, rs731236, and HLADRB1*1501 (rs3135388 in 303 patients with MS and 310 healthy controls, using TaqMan Assays. We also conducted a meta-analysis, that was carried out by using the software Meta-Disc 1.1.1 (http://www.hrc.es/investigacion/metadisc.html; Unit of Clinical Statistics, Hospital Ramón y Cajal, Madrid, Spain. Heterogeneity between studies in terms of degree of association was tested using the Q-statistic. RESULTS: VDR rs2228570 and rs731236 allelic and genotype frequencies did not differ significantly between MS patients and controls, and were unrelated with the age of onset of MS, gender, and course of MS. HLADRB1*1501 showed a high association with the risk of developing MS 4.76(95% C.I.  = 3.14-7.27; p<0.0001. The meta-analysis, after excluding data of one study that was responsible of heterogeneity for rs731236 polymorphism, showed lack of relation of both SNPs with the risk for MS. HLADRB1*1501 showed lack of interaction with VDR rs2228570 and rs731236 in increasing MS risk. CONCLUSIONS: These results suggest that VDR rs2228570 and rs731236 polymorphisms are not related with the risk for MS, and did not confirm interaction between these VDR SNPs and HLADRB1

  13. Building a Human Health Risk Assessment Ontology (RsO): A Proposed Framework.

    Science.gov (United States)

    McKone, Thomas E; Feng, Lydia

    2015-11-01

    Over the last decade the health and environmental research communities have made significant progress in collecting and improving access to genomic, toxicology, exposure, health, and disease data useful to health risk assessment. One of the barriers to applying these growing volumes of information in fields such as risk assessment is the lack of informatics tools to organize, curate, and evaluate thousands of journal publications and hundreds of databases to provide new insights on relationships among exposure, hazard, and disease burden. Many fields are developing ontologies as a way of organizing and analyzing large amounts of complex information from multiple scientific disciplines. Ontologies include a vocabulary of terms and concepts with defined logical relationships to each other. Building from the recently published exposure ontology and other relevant health and environmental ontologies, this article proposes an ontology for health risk assessment (RsO) that provides a structural framework for organizing risk assessment information and methods. The RsO is anchored by eight major concepts that were either identified by exploratory curations of the risk literature or the exposure-ontology working group as key for describing the risk assessment domain. These concepts are: (1) stressor, (2) receptor, (3) outcome, (4) exposure event, (5) dose-response approach, (6) dose-response metric, (7) uncertainty, and (8) measure of risk. We illustrate the utility of these concepts for the RsO with example curations of published risk assessments for ionizing radiation, arsenic in drinking water, and persistent pollutants in salmon. © 2015 Society for Risk Analysis.

  14. Study of Association between Interleukin 20 Polymorphism (Rs1518108 and Chronic Hepatitis C Infection

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    Elham Arbabi-Aval

    2013-07-01

    Full Text Available Background: Chronic hepatitis C is a major concern for global health as it causes liver problems, cirrhosis and liver cancer. Immune factors have a determinant role in susceptibility to chronic infection or clearance of infection in body. As a defensive agent, cytokines are important factors of immune system, since they can activate immune response or inhibit virus replication directly. The aim of this study is the evaluation of interleukin 20 polymorphism (rs1518108 in hepatitis C patients.Materials and Methods: This survey was a case–control study. By using PCR-RFLP method, 105 patients and 135 controls were studied randomly. We used SPSS-16 software for statistical analysis.Results: A significant association was found between polymorphism (rs1518108 of interleukin 20 and hepatitis C patients (p=0.035 (OR=2.283. The incidence of hepatitics C in males was observed five times more than that one females (p=0.01 (OR=5.18. In addition, no significant association between polymorphism of genotypes and liver harms (chronic and cirrhosis was found in this study (p=0.362.Conclusion: Our findings show that variants of interleukin 20 polymorphism (rs1518108 in the population of the study are important factors for being affected by hepatitis C. The incidence of heterozygote allele CT was more than of homozygote genotype TT.

  15. Association of PEAR1 rs12041331 polymorphism and pharmacodynamics of ticagrelor in healthy Chinese volunteers.

    Science.gov (United States)

    Li, Mupeng; Hu, Yaodong; Wen, Zhipeng; Li, Huilan; Hu, Xiaolei; Zhang, Yanjiao; Zhang, Zanling; Xiao, Jian; Tang, Jie; Chen, Xiaoping

    2017-12-01

    1. Genetic polymorphisms in platelet endothelial aggregation receptor 1 (PEAR1) were associated with responsiveness to aspirin and P2Y12 receptor antagonists. This study aimed to investigate whether PEAR1 polymorphism is associated with ticagrelor pharmacodynamics in healthy Chinese subjects. 2. The in vitro inhibition of platelet aggregation (IPA) was evaluated before and after ticagrelor incubated with platelet-rich plasma from 196 healthy Chinese male subjects. Eight polymorphisms at PEAR1 locus were genotyped. Eighteen volunteers (six in each rs12041331 genotype group) were randomly selected. After a single oral 180 mg dose of ticagrelor, plasma levels of ticagrelor and the active metabolite AR-C124910XX were measured and pharmacodynamics parameters including IPA and VASP-platelet reactivity index (PRI) were assessed. 3. No significant difference in ticagrelor pharmacokinetics among rs12041331 genotype was observed. As compared with rs12041331 G allele carriers, AA homozygotes exhibited increased IPA after 15 μM ticagrelor incubation (p ticagrelor administration (p ticagrelor incubation as compared to T allele carriers (p ticagrelor pharmacodynamics in healthy Chinese subjects.

  16. The Massive CO White Dwarf in the Symbiotic Recurrent Nova RS Ophiuchi

    Science.gov (United States)

    Mikołajewska, Joanna; Shara, Michael M.

    2017-10-01

    If accreting white dwarfs (WDs) in binary systems are to produce type Ia supernovae (SNe Ia), they must grow to nearly the Chandrasekhar mass and ignite carbon burning. Proving conclusively that a WD has grown substantially since its birth is a challenging task. Slow accretion of hydrogen inevitably leads to the erosion, rather than the growth of WDs. Rapid hydrogen accretion does lead to growth of a helium layer, due to both decreased degeneracy and the inhibition of mixing of the accreted hydrogen with the underlying WD. However, until recently, simulations of helium-accreting WDs all claimed to show the explosive ejection of a helium envelope once it exceeded ˜ {10}-1 {M}⊙ . Because CO WDs cannot be born with masses in excess of ˜ 1.1 {M}⊙ , any such object in excess of ˜ 1.2 {M}⊙ must have grown substantially. We demonstrate that the WD in the symbiotic nova RS Oph is in the mass range 1.2-1.4 M ⊙. We compare UV spectra of RS Oph with those of novae with ONe WDs and with novae erupting on CO WDs. The RS Oph WD is clearly made of CO, demonstrating that it has grown substantially since birth. It is a prime candidate to eventually produce an SN Ia.

  17. Relationship between Fas rs1800682 Gene Polymorphism and Susceptibility to Polycystic Ovary Syndrome

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    Samira Heidarpanah

    2017-01-01

    Full Text Available Abstract Background: Polycystic ovary syndrome(PCOS is the most common endocrine aberration in women. PCOS is characterized by ovarian hyperandrogenism and anovulation resulted from a disorder of follicular maturation. Apoptosis is a regulatory mechanism for oocyte maturation and survival. Several studies have shown a possible role of Fas in ovarian apoptosis. The present study is the first investigation to examine the possible association of Fas rs1800682gene polymorphism with PCOS risk in Iranian women. Materials and Methods: This case-control study was conducted on 251 patients with PCOS and 213 healthy control women. The Fas rs1800682 gene polymorphism genotypes were analyzed using the Tetra-ARMS-PCR method. Also, logistic regression analysis was used to investigate the association between genotypes and PCOS risk. Results: There was a significant association between A allele and susceptibility to PCOS(OR =1.4, %95CI=1.08-1.83, p=0.011. Moreover, in the recessive genetic model for A allele, the AA genotype increased the risk of PCOS after adjusting age and body mass index(OR=1.6, %95CI=1.02-2.51, p=0.041. Conclusion: For the first time, this study showed that Fas rs1800682 polymorphism is associated with PCOS risk in Iranian women and the A allele may act as a recessive allele for increasing the risk of PCOS.

  18. R102W mutation in the RS1 gene responsible for retinoschisis and recurrent glaucoma

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    Xiu-Feng Huang

    2014-02-01

    Full Text Available AIM: To identify the mutations in RS1 gene associated with typical phenotype of X-linked juvenile retinoschisis (XLRS and a rare condition of concomitant glaucoma.METHODS: Complete ophthalmic examinations were performed in the proband. The coding regions of the RS1 gene that encode retinoschisin were amplified by polymerase chain reaction and directly sequenced.RESULTS: The proband showed a typical phenotype of XLRS with large peripheral retinal schisis in both eyes, involving the macula and combined with foveal cystic change, reducing visual acuity. A typical phenotype of recurrent glaucoma with high intraocular pressure (IOP and reduced visual field was also demonstrated with the patient. Mutation analysis of RS1 gene revealed R102W (c.304C>T mutations in the affected male, and his mother was proved to be a carrier with the causative mutation and another synonymous polymorphism (c.576C>CT.CONCLUSION: We identified the genetic variations of a Chinese family with typical phenotype of XLRS and glaucoma. The severe XLRS phenotypes associated with R102W mutations reveal that the mutation determines a notable alteration in the function of the retinoschisin protein. Identification of the disease-causing mutation is beneficial for future clinical references.

  19. Association between SMAD3 gene rs12901499 polymorphism and knee osteoarthritis in a Chinese population.

    Science.gov (United States)

    Zhang, Li; Zhang, Limin; Zhang, Haiqin; Wang, Wenjun; Zhao, You

    2018-01-08

    Many studies have revealed that transforming growth factor-beta (TGF-β) signals play important roles in maintaining normal status of articular cartilage in human osteoarthritis (OA). However, SMAD3 had inhibitory effect on TGF-β-induced chondrocyte maturation. To evaluate the association of SMAD3 genetic variants with the risk of knee OA, we conducted this hospital-based case-control study involving 350 knee patients with OA and 400 controls in a Chinese population. Genotyping was performed using a custom-by-design 48-Plex single-nucleotide polymorphism (SNP) Scan™ Kit. Our results indicate that the GG genotype of rs12901499 could decrease the risk of knee OA compared to AA genotype. However, stratified analyses by sex and age did not obtain positive findings with regard to the association between rs12901499 polymorphism and knee OA risk. In conclusion, SMAD3 rs12901499 polymorphism may be involved in the development of knee OA. Larger studies with more diverse ethnic populations are needed to confirm these results. © 2018 Wiley Periodicals, Inc.

  20. Association of HTRA1 rs11200638 with age-related macular degeneration (AMD) in Brazilian patients.

    Science.gov (United States)

    Lana, Tamires Prates; da Silva Costa, Sueli Matilde; Ananina, Galina; Hirata, Fábio Endo; Rim, Priscila Hae Hyun; Medina, Flávio MacCord; de Vasconcellos, José Paulo Cabral; de Melo, Mônica Barbosa

    2018-01-01

    Age-related macular degeneration is a multifactorial disease that can lead to vision impairment in older individuals. Although the etiology of age-related macular degeneration remains unknown, risk factors include age, ethnicity, smoking, hypertension, obesity, and genetic factors. Two main loci have been identified through genome-wide association studies, on chromosomes 1 and 10. Among the variants located at the 10q26 region, rs11200638, located at the HTRA1 gene promoter, has been associated with age-related macular degeneration in several populations and is considered the main polymorphism. We conducted a replication case-control study to analyze the frequency and participation of rs11200638 in the etiology of age-related macular degeneration in a sample of patients and controls from the State of São Paulo, Brazil, through polymerase chain reaction and enzymatic digestion. The frequency of the A allele was 57.60% in patients with age-related macular degeneration and 36.45% in controls (p value age-related macular degeneration group compared to the control group (p = 1.21 e-07 and 0.0357, respectively). No statistically significant results were observed after stratification in dry versus wet types or advanced versus non-advanced forms. To our knowledge, this is the first time the association between rs11200638 and overall age-related macular degeneration has been reported in South America.

  1. A CREB1 Gene Polymorphism (rs2253206 Is Associated with Prospective Memory in a Healthy Cohort

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    Nesli Avgan

    2017-05-01

    Full Text Available Prospective memory (PM is generally defined as remembering to perform intended actions in the future and is important for functioning in daily life. Cyclic adenosine monophosphate (cAMP responsive element binding protein 1 (CREB1 plays an important role in cognitive functions. In this study, we hypothesized that genetic variation in the CREB1 gene is associated with PM. We genotyped a CREB1 promoter polymorphism rs2253206 and tested it for association with PM in 619 healthy subjects. PM performance was measured using the Prospective and Retrospective Memory Questionnaire (PRMQ, the Comprehensive Assessment of Prospective Memory (CAPM, and the Memory for Intentions Screening Test (MIST. Generalized linear model analysis was conducted for each PM test independently using different inheritance models to identify any associations (p < 0.05. After multiple testing adjustments, a significant association was found between the rs2253206 genotype and PM performance for CAPM instrumental activities of daily living measure (p = 0.016. These results suggest that the rs2253206 polymorphism in the CREB1 gene locus is associated with PM in healthy individuals and contributes to knowledge on the genetics of this particular type of memory.

  2. Association of Calcium-Sensing Receptor (CASR rs 1801725 with Colorectal Cancer

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    Fateme Rostami

    2012-07-01

    Full Text Available Background: Calcium induces apoptosis in intestinal epithelial cells and subsequently prevents colorectal cancer through ion calcium receptor. Calcium-sensing receptor mutation reduces the expression of this receptor, and subsequently in reduces calcium transportation. Many studies have shown that Calcium-sensing receptor gene polymorphism may increase the risk of colorectal cancer. The purpose of this study is to assess the prevalence of calcium-sensing receptor polymorphisms (rs 1801725 in Iran society and to examine the role of this polymorphism in the increased risk of colorectal cancer (CRC.Materials and Methods: The research was a case-control study. 105 patients with colorectal cancer and 105 controls were randomly studied using polymerase chain reaction and restriction fragment length polymorphism. χ2 test and software 16- SPSS were used for statistical analysis.Results: In patient samples, the frequency of the genotypes TT, GT, GG in gene CASR rs 1801725 was respectively 64.8, 32.4, and 2.9 and the frequency of this polymorphism in control samples was respectively 51.2, 45.7, and 2.9. Frequency of allele G in patient samples was 0/48 and frequency of allele T was 0.25. In addition, Frequency of allele G in control samples was 0.74 and Frequency of allele T was calculated 0.19.Conclusion: The results show that calcium-sensing receptor variant (1801725 rs is not associated with increased risk of colorectal cancer.

  3. PepO, a CovRS-controlled endopeptidase, disrupts Streptococcus pyogenes quorum sensing.

    Science.gov (United States)

    Wilkening, Reid V; Chang, Jennifer C; Federle, Michael J

    2016-01-01

    Group A Streptococcus (GAS, Streptococcus pyogenes) is a human-restricted pathogen with a capacity to both colonize asymptomatically and cause illnesses ranging from pharyngitis to necrotizing fasciitis. An understanding of how and when GAS switches between genetic programs governing these different lifestyles has remained an enduring mystery and likely requires carefully tuned environmental sensors to activate and silence genetic schemes when appropriate. Herein, we describe the relationship between the Control of Virulence (CovRS, CsrRS) two-component system and the Rgg2/3 quorum-sensing pathway. We demonstrate that responses of CovRS to the stress signals Mg(2+) and a fragment of the antimicrobial peptide LL-37 result in modulated activity of pheromone signaling of the Rgg2/3 pathway through a means of proteolysis of SHP peptide pheromones. This degradation is mediated by the cytoplasmic endopeptidase PepO, which is the first identified enzymatic silencer of an RRNPP-type quorum-sensing pathway. These results suggest that under conditions in which the virulence potential of GAS is elevated (i.e. enhanced virulence gene expression), cellular responses mediated by the Rgg2/3 pathway are abrogated and allow individuals to escape from group behavior. These results also indicate that Rgg2/3 signaling is instead functional during non-virulent GAS lifestyles. © 2015 John Wiley & Sons Ltd.

  4. [Effect of EUDRAGIT® RS on the release behaviour of theophylline solid dispersions].

    Science.gov (United States)

    Orugun, Oluwaseun; Oyi, Avosuahi; Olowosulu, Adeniji; Apeji, Yonni; Olayemi, Olubunmi

    The purpose of this study was to extend the release of theophylline using Eudragit® RS 100 and Eudragit® RSPO as carriers. Solid dispersions of theophylline were prepared by the solvent evaporation technique using Eudragit® RS 100, Eudragit® RSPO and their blend in various drug : polymer ratios. The prepared solid dispersions were characterized with respect to entrapment efficiency, solubility and recovery yield. In vitro drug release of theophylline from the solid dispersions was evaluated in simulated gastric fluid (SGF) and simulated intestinal fluid (SIF) without enzymes. Solubility studies demonstrated a decrease in the solubility of the drug from the solid dispersions. The solubilities of pure drug and solid dispersions were lowered in SGF compared to SIF. Solid dispersions prepared with Eudragit® RS 100 entrapped a greater amount of theophylline in comparison to those with Eudragit® RSPO or the polymer blends and were able to extend the release of theophylline over 24 hrs. Formulation SD4 released 95.52% of the drug in SIF and 93.56% in SGF. Hence, it was selected as the optimized formulation because it was able to extend the release of theophylline over 24 hrs.Key words: solid dispersion extended release Eudragit® drug release.

  5. Characterization of rhizobacterial strain Rs-2 with ACC deaminase activity and its performance in promoting cotton growth under salinity stress.

    Science.gov (United States)

    Wu, Zhansheng; Yue, Haitao; Lu, Jianjiang; Li, Chun

    2012-06-01

    A plant growth-promoting rhizobacterial strain Rs-2 with 1-aminocyclopropane-1-carboxylate (ACC) deaminase activity was isolated from salinized soils using ACC as the sole nitrogen source. Based on its physiological and biochemical properties and 16S rDNA sequence analysis, this strain was identified as Raoultella planticola. The maximum value of nitrogen fixation, dissolved phosphorus and dissolved potassium of Rs-2 were 148.8 μg/ml, 205.0 and 4.31 mg/l, respectively within 192 h liquid culture. The germination rate of cotton seeds (Gossypium hirsutum L.) inoculated with Rs-2 (Rs-2-S) was enhanced by 29.5 % in pot experiments compared with that of the control (CK-S). Subsequently, individual plant height, fresh weight and dry weight of cotton seedlings in Rs-2-S treatment increased by 15.0, 33.7 and 33.3 %, respectively, compared with those in CK-S treatment. Statistical analysis showed that the inoculums of Rs-2 promoted significantly (P cotton growth. Further analysis showed that Rs-2 reduced the quantities of ethylene and abscisic acid in cotton seedlings, and increased indole acetic acid content in cotton seedlings under salinity stress. The accumulation of N, P, K(+), Ca(2+) and Fe(2+) in the cotton plants was increased significantly (P cotton seedlings decreased (P cotton growth and alleviating salinity stress.

  6. A Nematode Calreticulin, Rs-CRT, Is a Key Effector in Reproduction and Pathogenicity of Radopholus similis

    Science.gov (United States)

    Li, Yu; Wang, Ke; Xie, Hui; Wang, Yan-Tao; Wang, Dong-Wei; Xu, Chun-Lin; Huang, Xin; Wang, De-Sen

    2015-01-01

    Radopholus similis is a migratory plant-parasitic nematode that causes severe damage to many agricultural and horticultural crops. Calreticulin (CRT) is a Ca2+-binding multifunctional protein that plays key roles in the parasitism, immune evasion, reproduction and pathogenesis of many animal parasites and plant nematodes. Therefore, CRT is a promising target for controlling R. similis. In this study, we obtained the full-length sequence of the CRT gene from R. similis (Rs-crt), which is 1,527-bp long and includes a 1,206-bp ORF that encodes 401 amino acids. Rs-CRT and Mi-CRT from Meloidogyne incognita showed the highest similarity and were grouped on the same branch of the phylogenetic tree. Rs-crt is a multi-copy gene that is expressed in the oesophageal glands and gonads of females, the gonads of males, the intestines of juveniles and the eggs of R. similis. The highest Rs-crt expression was detected in females, followed by juveniles, eggs and males. The reproductive capability and pathogenicity of R. similis were significantly reduced after treatment with Rs-crt dsRNA for 36 h. Using plant-mediated RNAi, we confirmed that Rs-crt expression was significantly inhibited in the nematodes, and resistance to R. similis was significantly improved in transgenic tomato plants. Plant-mediated RNAi-induced silencing of Rs-crt could be effectively transmitted to the F2 generation of R. similis; however, the silencing effect of Rs-crt induced by in vitro RNAi was no longer detectable in F1 and F2 nematodes. Thus, Rs-crt is essential for the reproduction and pathogenicity of R. similis. PMID:26061142

  7. Polymorphism rs11085226 in the gene encoding polypyrimidine tract-binding protein 1 negatively affects glucose-stimulated insulin secretion.

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    Martin Heni

    Full Text Available OBJECTIVE: Polypyrimidine tract-binding protein 1 (PTBP1 promotes stability and translation of mRNAs coding for insulin secretion granule proteins and thereby plays a role in β-cells function. We studied whether common genetic variations within the PTBP1 locus influence insulin secretion, and/or proinsulin conversion. METHODS: We genotyped 1,502 healthy German subjects for four tagging single nucleotide polymorphisms (SNPs within the PTBP1 locus (rs351974, rs11085226, rs736926, and rs123698 covering 100% of genetic variation with an r(2≥0.8. The subjects were metabolically characterized by an oral glucose tolerance test with insulin, proinsulin, and C-peptide measurements. A subgroup of 320 subjects also underwent an IVGTT. RESULTS: PTBP1 SNP rs11085226 was nominally associated with lower insulinogenic index and lower cleared insulin response in the OGTT (p≤0.04. The other tested SNPs did not show any association with the analyzed OGTT-derived secretion parameters. In the IVGTT subgroup, SNP rs11085226 was accordingly associated with lower insulin levels within the first ten minutes following glucose injection (p = 0.0103. Furthermore, SNP rs351974 was associated with insulin levels in the IVGTT (p = 0.0108. Upon interrogation of MAGIC HOMA-B data, our rs11085226 result was replicated (MAGIC p = 0.018, but the rs351974 was not. CONCLUSIONS: We conclude that common genetic variation in PTBP1 influences glucose-stimulated insulin secretion. This underlines the importance of PTBP1 for beta cell function in vivo.

  8. A promoter polymorphism rs2075824 within IMPA2 gene affecting the transcription activity: possible relationship with schizophrenia.

    Science.gov (United States)

    Li, Jia; Huang, Sheng; Dai, Hui-Rong; Wang, Juan; Lin, Li-Hui; Xiao, Hui; Peng, Xia; Li, Fei; Wang, Yu-Ping; Yuan, Jian-Min; Li, Li

    2017-04-01

    Previous studies with biological and genetic evidence indicate that the myo-inositol monophosphatase 2 (IMPA2) gene may influence schizophrenia. We performed a genetic association study in Han Chinese cohorts. Five single nucleotide polymorphisms within IMPA2 promoter region (rs971363, rs971362, rs2075824, rs111410794 and rs111610121), as well as one (rs45442994, in intron 1) that was positively associated in another study, were selected for genotyping in 1397 patients with schizophrenia and 1285 mentally healthy controls. Genotype and allele frequencies were assessed by gender stratification. Interestingly, rs2075824 showed a strong association with schizophrenia (P = 4.1 × 10 -4 ), and the T allele was more frequent in cases than controls [P = 5.6 × 10 -5 , OR (95% CI) = 1.26 (1.13-1.41)]. In vitro promoter assay showed that the transcription activity of the T allele promoter was higher than that of the C allele promoter and the T allele of rs2075824 contributed to risk for schizophrenia. By stratifying males and females, we found a gender-specific association for IMPA2 and schizophrenia: the T allele of rs2075824 was more frequent in male cases compared with male controls [P = 1.4 × 10 -4 , OR (95% CI) = 1.33 (1.15-1.55)]. Our data suggest that a promoter polymorphism of IMPA2 possibly contributed to risk for schizophrenia by elevating transcription activity in Han Chinese individuals. © 2016 The Authors. Journal of Cellular and Molecular Medicine published by John Wiley & Sons Ltd and Foundation for Cellular and Molecular Medicine.

  9. Homogeneous Assay of rs4343, an ACE I/D Proxy, and an Analysis in the British Women’s Heart and Health Study (BWHHS

    Directory of Open Access Journals (Sweden)

    Mohammad Reza Abdollahi

    2008-01-01

    Full Text Available Current literature suggests that ACE SNP rs4343, ACE 2350A>G in exon 17, T202T, may be the best proxy for the ACE Alu I/D whereas rs4363 and rs4362 may be slightly stronger predictors of ACE levels. Considering reported difficulties in genotyping ACE I/D and stronger associations of rs4343 than ACE I/D with plasma ACE levels in Africans, and suitability of rs4343 for allelic mRNA (cDNA studies, we developed and validated a liquid phase assay for rs4343, which has advantage on both functional and technical grounds. We confirmed that rs4343, is in near perfect linkage disequilibrium (D’=1, r2 =0.88, n=64 with ACE I/D in Europeans (A and G alleles of rs4343 marking insertion and deletion alleles of ACE I/D respectively.

  10. Stressful life events increase aggression and alcohol use in young carriers of the GABRA2 rs279826/rs279858 A-allele.

    Science.gov (United States)

    Kiive, Evelyn; Laas, Kariina; Vaht, Mariliis; Veidebaum, Toomas; Harro, Jaanus

    2017-08-01

    Research of GABRA2 gene in alcohol use and impulse control suggests its role in aggressive behaviour. The purpose of the present study was to examine the effects of GABRA2 genotype and stressful life events on aggressive behaviour, alcohol use frequency and occurrence of alcohol use disorder in a population representative sample of adolescents followed up from third grade to 25 years of age. The sample consisted of the younger cohort of the longitudinal Estonian Children Personality, Behaviour and Health Study. Aggressive behaviour was rated with the activity scale of af Klinteberg, Illinois Bully Scale and Buss-Perry Aggression Questionnaire. Stressful life events and alcohol use were self-reported. Life history of aggression and lifetime occurrence of psychiatric disorders were estimated in a structured interview. The sample was genotyped for GABRA2 rs279826 and rs279858 polymorphisms that are in strong linkage disequilibrium and yielded very similar findings: Higher number of stressful life events reported at age 15 was associated with increased fighting in A-allele carriers, but not in GG homozygotes. At age 25, A-allele carriers with more stressful life events scored higher on physical aggression than those with less stress, and this was also observed regarding life history of aggression. A-allele carriers exposed to higher stress had consumed alcoholic beverages more frequently at age 15, and by age 25, they had alcohol use disorder with higher prevalence. The results of the present study suggest that the GABRA2 genotype interacts with stress in young people with impact on the development of alcohol use and aggressive behaviour. Copyright © 2017 Elsevier B.V. and ECNP. All rights reserved.

  11. Quality of life of patients with bronchial asthma combined with obesity, depending on the identification of FTO RS9939609 and RS324011 STAT6 gene polymorphism

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    О.B. Melnik

    2017-10-01

    Full Text Available Background. We purposed to analyse the distribution of polymorphism of the FTO and STAT6 genes and the quality of life in patients with bronchial asthma (BA combined with obesity. Materials and methods. 117 people aged 18 and 48 years old were surveyed and interviewed. The Ukrainian version of the MOS SF-36 questionnaire was used to determine the role of the correlation between the individual features of the patient with BA and obesity, and the special St. George’s Respiratory Questionnaire — to assess the respiratory function. Results. In patients with asthma associated with obesity, the clinical manifestations of BA are more significant, and the overall quality of life is significantly lower than in patients with isolated asthma. In addition, it was found that the carriers of the A alleles of the FTO gene (T/A, A/A showed a decrease in the indicators of physical functioning, influence of physical condition on the role functioning, social functioning, impact of emotional state on role functioning, and the carriers of the T alleles of the STAT6 gene (C/T, T/T showed a more pronounced indicators, such as “symptoms”, “activity”, “influence”, and a decrease in the overall quality of life. Conclusions. The impact of clinical symptoms on the subjective reflection of health in patients with asthma associated with obesity was manifested by changes in the physical and mental component of the questionnaire limiting the social activity of a person, the participation of patients in public life and clearly reflected on the mental state of personality with a predisposition to depression, anxiety, excitement. In addition, the genotypic relationship between the detection of the FTO RS9939609 and the RS324011 STAT6 gene polymorphisms and the quality of life of patients with a combined course of disease was noted.

  12. Genetic Polymorphism of the Serotonin Transporter Gene, SLC6A4 rs16965628, Is Associated with Obsessive Compulsive Disorder.

    Science.gov (United States)

    Cengiz, Mujgan; Okutan, Saide Nur; Bayoglu, Burcu; Sakalli Kani, Ayse; Bayar, Reha; Kocabasoglu, Nese

    2015-05-01

    Obsessive compulsive disorder (OCD) is a psychiatric disorder characterized by obsessive ideas and compulsive behaviors. Genetic studies have centered on candidate genes involved in OCD etiology related to serotonergic and dopaminergic systems. In this study, the relationship between cathechol-O-methyltransferase (COMT) -287A/G (rs2097063), serotonin transporters 5-HTTLPR I/D, and SLC6A4 rs16965628 polymorphisms in 80 OCD patients and 100 healthy controls was determined. Patients and controls were genotyped for COMT rs2097063 and SLC6A4 rs16965628 polymorphisms by real-time polymerase chain reaction (PCR). The 5-HTTLPR I/D polymorphism was genotyped using PCR and agarose gel electrophoresis. Severity of symptoms was checked with a Yale-Brown Obsession Compulsion Scale (Y-BOCS). When the OCD group and controls were compared, no significant difference was found between COMT -287A/G (rs2097063), 5-HTTLPR I/D polymorphisms, and OCD. However, a significant difference was found between 5-HTT rs16965628 polymorphism and OCD (p=0.025, OR=3.43, 95% CI 1.41-10.35). In addition, the G allele frequency was found to be higher for rs16965628 in the OCD group. No significant difference was observed between COMT -287A/G (rs2097063), SLC6A4 rs16965628, and 5-HTTLPR I/D polymorphisms and Y-BOCS scores (p>0.05). There was also lack of correlation between Yale-Brown scores and gender of OCD patients. On the other hand, combined genotypes of SLC6A4 rs16965628 GG+GC were found to be risk factors for OCD development (p=0.02, OR=3.464; 95% CI 1.214-9.883) in logistic regression analysis adjusted for age and gender. Our findings suggest that subjects carrying the G allele of rs16965628 have genetic susceptibility to OCD. These data are the first to suggest that polymorphism in serotonin transporter (rs16965628) is associated with the development of OCD in the Turkish population.

  13. Association between SERPING1 rs2511989 polymorphism and age-related macular degeneration: Meta-analysis

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    Yi Dong

    2015-04-01

    Full Text Available AIM: To investigate the association between SERPING1 rs2511989 (G>A polymorphism and age-related macular degeneration (AMD. METHODS: A number of electronic databases (up to July 15, 2014 were searched independently by two investigators. A Meta-analysis was performed on the association between SERPING1 rs2511989 polymorphism and AMD. Pooled odds ratios (ORs with 95% confidence intervals (CIs were estimated. RESULTS: Eight studies with 16 cohorts consisting of 9163 cases and 6813 controls were included in this Meta-analysis. There was no significant association between rs2511989 polymorphism and AMD under all genetic models in overall estimates (A vs G: OR= 0.938, 95%CI =0.858-1.025; AA vs GG:OR =0.871, 95%CI =0.719-1.056; AG vs GG: OR =0.944, 95%CI =0.845-1.054; AA+AG vs GG: OR =0.927, 95% CI =0.823-1.044; AA vs AG+GG: OR =0.890, 95%CI =0.780-1.034. Cumulative Meta-analyses also showed a trend of no association between rs2511989 polymorphism and AMD as information accumulated by year. Subgroup analysis and Meta-regression analysis indicated that age-matching status was the main source of heterogeneity. Sensitivity analysis found the results in overall comparisons and subgroup comparisons of white subjects under the allele model were found to have significantly statistical differences after studies deviating from Hardy-Weinberg equilibrium (HWE were excluded (overall: OR=0.918, 95%CI = 0.844-0.999, P =0.049; whites: OR =0.901, 95%CI = 0.817-0.994, P =0.038. However, the results were not sufficiently robust for further sensitivity analysis and statistical differences disappeared on applying Bonferroni correction (with a significance level set at 0.05/25. CONCLUSION: This Meta-analysis indicates that SERPING1 rs2511989 polymorphism and AMD tend to have no association with each other. Age matching status is a big confounding factor, and more studies with subtle designs are warranted in future.

  14. RS-Predictor models augmented with SMARTCyp reactivities: robust metabolic regioselectivity predictions for nine CYP isozymes.

    Science.gov (United States)

    Zaretzki, Jed; Rydberg, Patrik; Bergeron, Charles; Bennett, Kristin P; Olsen, Lars; Breneman, Curt M

    2012-06-25

    RS-Predictor is a tool for creating pathway-independent, isozyme-specific, site of metabolism (SOM) prediction models using any set of known cytochrome P450 (CYP) substrates and metabolites. Until now, the RS-Predictor method was only trained and validated on CYP 3A4 data, but in the present study, we report on the versatility the RS-Predictor modeling paradigm by creating and testing regioselectivity models for substrates of the nine most important CYP isozymes. Through curation of source literature, we have assembled 680 substrates distributed among CYPs 1A2, 2A6, 2B6, 2C19, 2C8, 2C9, 2D6, 2E1, and 3A4, the largest publicly accessible collection of P450 ligands and metabolites released to date. A comprehensive investigation into the importance of different descriptor classes for identifying the regioselectivity mediated by each isozyme is made through the generation of multiple independent RS-Predictor models for each set of isozyme substrates. Two of these models include a density functional theory (DFT) reactivity descriptor derived from SMARTCyp. Optimal combinations of RS-Predictor and SMARTCyp are shown to have stronger performance than either method alone, while also exceeding the accuracy of the commercial regioselectivity prediction methods distributed by Optibrium and Schrödinger, correctly identifying a large proportion of the metabolites in each substrate set within the top two rank-positions: 1A2 (83.0%), 2A6 (85.7%), 2B6 (82.1%), 2C19 (86.2%), 2C8 (83.8%), 2C9 (84.5%), 2D6 (85.9%), 2E1 (82.8%), 3A4 (82.3%), and merged (86.0%). Comprehensive datamining of each substrate set and careful statistical analyses of the predictions made by the different models revealed new insights into molecular features that control metabolic regioselectivity and enable accurate prospective prediction of likely SOMs.

  15. RS-SNP: a random-set method for genome-wide association studies

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    Mukherjee Sayan

    2011-03-01

    Full Text Available Abstract Background The typical objective of Genome-wide association (GWA studies is to identify single-nucleotide polymorphisms (SNPs and corresponding genes with the strongest evidence of association (the 'most-significant SNPs/genes' approach. Borrowing ideas from micro-array data analysis, we propose a new method, named RS-SNP, for detecting sets of genes enriched in SNPs moderately associated to the phenotype. RS-SNP assesses whether the number of significant SNPs, with p-value P ≤ α, belonging to a given SNP set is statistically significant. The rationale of proposed method is that two kinds of null hypotheses are taken into account simultaneously. In the first null model the genotype and the phenotype are assumed to be independent random variables and the null distribution is the probability of the number of significant SNPs in greater than observed by chance. The second null model assumes the number of significant SNPs in depends on the size of and not on the identity of the SNPs in . Statistical significance is assessed using non-parametric permutation tests. Results We applied RS-SNP to the Crohn's disease (CD data set collected by the Wellcome Trust Case Control Consortium (WTCCC and compared the results with GENGEN, an approach recently proposed in literature. The enrichment analysis using RS-SNP and the set of pathways contained in the MSigDB C2 CP pathway collection highlighted 86 pathways rich in SNPs weakly associated to CD. Of these, 47 were also indicated to be significant by GENGEN. Similar results were obtained using the MSigDB C5 pathway collection. Many of the pathways found to be enriched by RS-SNP have a well-known connection to CD and often with inflammatory diseases. Conclusions The proposed method is a valuable alternative to other techniques for enrichment analysis of SNP sets. It is well founded from a theoretical and statistical perspective. Moreover, the experimental comparison with GENGEN highlights that it is

  16. Reference quality upper-air measurements: GRUAN data processing for the Vaisala RS92 radiosonde

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    R. J. Dirksen

    2014-12-01

    Full Text Available The GCOS (Global Climate Observing System Reference Upper-Air Network (GRUAN data processing for the Vaisala RS92 radiosonde was developed to meet the criteria for reference measurements. These criteria stipulate the collection of metadata, the use of well-documented correction algorithms, and estimates of the measurement uncertainty. An important and novel aspect of the GRUAN processing is that the uncertainty estimates are vertically resolved. This paper describes the algorithms that are applied in version 2 of the GRUAN processing to correct for systematic errors in radiosonde measurements of pressure, temperature, humidity, and wind, as well as how the uncertainties related to these error sources are derived. Currently, the RS92 is launched on a regular basis at 13 out of 15 GRUAN sites. An additional GRUAN requirement for performing reference measurements with the RS92 is that the manufacturer-prescribed procedure for the radiosonde's preparation, i.e. heated reconditioning of the sensors and recalibration during ground check, is followed. In the GRUAN processing however, the recalibration of the humidity sensors that is applied during ground check is removed. For the dominant error source, solar radiation, laboratory experiments were performed to investigate and model its effect on the RS92's temperature and humidity measurements. GRUAN uncertainty estimates are 0.15 K for night-time temperature measurements and approximately 0.6 K at 25 km during daytime. The other uncertainty estimates are up to 6% relative humidity for humidity, 10–50 m for geopotential height, 0.6 hPa for pressure, 0.4–1 m s−1 for wind speed, and 1° for wind direction. Daytime temperature profiles for GRUAN and Vaisala processing are comparable and consistent within the estimated uncertainty. GRUAN daytime humidity profiles are up to 15% moister than Vaisala processed profiles, of which two-thirds is due to the radiation dry bias correction and one-third is due

  17. Reference quality upper-air measurements: GRUAN data processing for the Vaisala RS92 radiosonde

    Science.gov (United States)

    Dirksen, R. J.; Sommer, M.; Immler, F. J.; Hurst, D. F.; Kivi, R.; Vömel, H.

    2014-12-01

    The GCOS (Global Climate Observing System) Reference Upper-Air Network (GRUAN) data processing for the Vaisala RS92 radiosonde was developed to meet the criteria for reference measurements. These criteria stipulate the collection of metadata, the use of well-documented correction algorithms, and estimates of the measurement uncertainty. An important and novel aspect of the GRUAN processing is that the uncertainty estimates are vertically resolved. This paper describes the algorithms that are applied in version 2 of the GRUAN processing to correct for systematic errors in radiosonde measurements of pressure, temperature, humidity, and wind, as well as how the uncertainties related to these error sources are derived. Currently, the RS92 is launched on a regular basis at 13 out of 15 GRUAN sites. An additional GRUAN requirement for performing reference measurements with the RS92 is that the manufacturer-prescribed procedure for the radiosonde's preparation, i.e. heated reconditioning of the sensors and recalibration during ground check, is followed. In the GRUAN processing however, the recalibration of the humidity sensors that is applied during ground check is removed. For the dominant error source, solar radiation, laboratory experiments were performed to investigate and model its effect on the RS92's temperature and humidity measurements. GRUAN uncertainty estimates are 0.15 K for night-time temperature measurements and approximately 0.6 K at 25 km during daytime. The other uncertainty estimates are up to 6% relative humidity for humidity, 10-50 m for geopotential height, 0.6 hPa for pressure, 0.4-1 m s-1 for wind speed, and 1° for wind direction. Daytime temperature profiles for GRUAN and Vaisala processing are comparable and consistent within the estimated uncertainty. GRUAN daytime humidity profiles are up to 15% moister than Vaisala processed profiles, of which two-thirds is due to the radiation dry bias correction and one-third is due to an additional

  18. A Functional Variant rs6435156C>T in BMPR2 is Associated With Increased Risk of Chronic Obstructive Pulmonary Disease (COPD in Southern Chinese Population

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    Jian Wang

    2016-03-01

    Interpretation: This study demonstrated that both rs6435156C>T and rs1048829G>T variants in BMPR2 contributed to increased susceptibility to COPD. The T variants of rs6435156 increased COPD risk likely by binding with hsa-miR-20a, thus leading to downregulated BMPR2 expression in lung epithelial and immune cells.

  19. Wild and attenuated vaccine RS-12 strains of mumps virus exhibit differences in amino acid sequences of their proteins.

    Science.gov (United States)

    Alirezaie, B; Shahbazi, R; Safavieh, S S; Mohammad, A

    2014-01-01

    Attenuated mumps virus (MuV) RS-12 strain-based vaccine is one of several effective vaccines available in the prevention of mumps. Since previous studies have unveiled only about one-third of the attenuated vaccine RS-12 strain genome sequence, the rest of sequence and molecular basis for attenuation remained unsolved. Therefore, in this study, the full-length genome sequences of wild and attenuated RS-12 strains were determined and compared. The comparison revealed nucleotide substitutions at 9 positions leading to amino acid substitutions at 6 positions in P, V, I, M, and L proteins, while the remaining substitutions were silent. This result indicates that the observed mutations in P, V, I, M, and L proteins of MuV might be responsible for the attenuation of the RS-12 vaccine strain.

  20. Association between overweight and obesity in schoolchildren with rs9939609 polymorphism (FTO and family history for obesity

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    Cézane Priscila Reuter

    2016-09-01

    Conclusions: There is an association between the AA genotype of rs9939609 polymorphism and BMI among schoolchildren. The association between overweight/obesity in schoolchildren with a family history of obesity was found mainly among students with the AA genotype.

  1. TCF7L2 rs7903146-macronutrient interaction in obese individuals' responses to a 10-wk randomized hypoenergetic diet

    DEFF Research Database (Denmark)

    Grau, Katrine; Cauchi, Stephane; Holst, Claus

    2010-01-01

    Transcription factor 7-like 2 (TCF7L2) rs7903146 associates with type 2 diabetes and may operate via impaired glucagon-like peptide 1 secretion, which is stimulated more by fat than by carbohydrate ingestion....

  2. Validity and clinical feasibility of the ADHD rating scale (ADHD-RS) A Danish Nationwide Multicenter Study

    DEFF Research Database (Denmark)

    Szomlaiski, N; Dyrborg, J; Rasmussen, H

    2008-01-01

    Aim: To establish the validity of a Danish version of the Attention Deficit Hyperactivity Disorder Rating Scale (ADHD-RS), secondly to present national norm scores compared to that of United States and other European data and thirdly to evaluate ADHD-RS when used for monitoring treatment...... effectiveness. Methods: A Danish translation of the ADHD-RS was used on a normative sample of 837 children. Two clinical samples, 138 hyperkinetic disorder (HKD) cases and 110 clinical controls were recruited from eleven Danish Child and Adolescent Mental Health (CAMH) centres and assessed according to usual...... clinical standards. The HKD children were rated by parents and teachers at baseline and at follow-up 3 months later. Results: Internal validity of ADHD-RS was high and the factor structure supported the diagnostic classification system ICD-10. The questionnaire discriminated HKD patients in a mixed...

  3. Two-component signal transduction system SaeRS is involved in competence and penicillin susceptibility in Staphylococcus epidermidis.

    Science.gov (United States)

    Lou, Qiang; Ma, Yuanfang; Qu, Di

    2016-04-01

    Staphylococcus epidermidis, which is a causative pathogen of nosocomial infection, expresses its virulent traits such as biofilm and autolysis regulated by two-component signal transduction system SaeRS. In this study, the S. epidermidis SaeRS was identified to negatively regulate the expression of genes involved in competence (comF, murF), cytolysis (lrgA), and autolysis (lytS) by DNA microarray or real-time RT-PCR analysis. In addition, saeRS mutant showed increased competence and higher susceptibility to antibiotics such as penicillin and oxacillin than the wild-type strain. The study will be helpful for understanding the characterization of the SaeRS in S. epidermidis. © 2016 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  4. Protective Role of the Interleukin 33 rs3939286 Gene Polymorphism in the Development of Subclinical Atherosclerosis in Rheumatoid Arthritis Patients.

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    Raquel López-Mejías

    Full Text Available To determine whether the interleukin-33 (IL-33-interleukin-1 receptor like 1 (IL-1RL1 signaling pathway is implicated in the risk of subclinical atherosclerosis in patients with rheumatoid arthritis (RA.A total of 576 Spanish RA patients from Northern Spain were genotyped for 6 well-known IL33-IL1RL1 polymorphisms (IL33 rs3939286, IL33 rs7025417, IL33 rs7044343, IL1RL1 rs2058660, IL1RL1 rs2310173 and IL1RL1 rs13015714 by TaqMan genotyping assay. The presence of subclinical atherosclerosis was determined by the assessment of carotid intima-media thickness (cIMT by carotid ultrasound (US.RA patients carrying the TT genotype of the IL33 rs3939286 polymorphism had lower cIMT values than those homozygous for the CC genotype (mean ± standard deviation (SD: 0.71 ± 0.14 mm versus 0.76 ± 0.16 mm, respectively while patients carrying the CT genotype had intermediate cIMT values (mean ± SD: 0.73 ± 0.17 mm. Moreover, RA patients carrying the mutant allele T of the IL33 rs3939286 polymorphism exhibited significantly lower cIMT values than those carrying the wild allele C (mean ± SD: 0.72 ± 0.16 mm versus 0.75 ± 0.18 mm respectively; p = 0.04. The association of both genotype and allele frequencies of IL33 rs3939286 and cIMT levels remained statistically significant after adjustment for sex, age at the time of US study, follow-up and center (p = 0.006 and p = 0.0023, respectively, evidencing that the potential effect conferred by IL33 rs3939286 may be independent of confounder factors. No association with other IL33-IL1RL1 genetic variants was observed.In conclusion, our results may suggest a potential protective effect of the IL33 rs3939286 allele T in the risk of subclinical atherosclerosis in patients with RA.

  5. Protective Role of the Interleukin 33 rs3939286 Gene Polymorphism in the Development of Subclinical Atherosclerosis in Rheumatoid Arthritis Patients

    Science.gov (United States)

    Robustillo-Villarino, Montserrat; García-Bermúdez, Mercedes; Llorca, Javier; Corrales, Alfonso; González-Juanatey, Carlos; Ubilla, Begoña; Miranda-Filloy, José A.; Mijares, Verónica; Pina, Trinitario; Blanco, Ricardo; Alegre-Sancho, Juan J.; Ramírez Huaranga, Marco A.; Mínguez Sánchez, María D.; Tejera Segura, Beatriz; Ferraz-Amaro, Iván; Vicente, Esther; Carmona, F. David; Castañeda, Santos; Martín, Javier; González-Gay, Miguel A.

    2015-01-01

    Objectives To determine whether the interleukin-33 (IL-33)-interleukin-1 receptor like 1 (IL-1RL1) signaling pathway is implicated in the risk of subclinical atherosclerosis in patients with rheumatoid arthritis (RA). Methods A total of 576 Spanish RA patients from Northern Spain were genotyped for 6 well-known IL33-IL1RL1 polymorphisms (IL33 rs3939286, IL33 rs7025417, IL33 rs7044343, IL1RL1 rs2058660, IL1RL1 rs2310173 and IL1RL1 rs13015714) by TaqMan genotyping assay. The presence of subclinical atherosclerosis was determined by the assessment of carotid intima-media thickness (cIMT) by carotid ultrasound (US). Results RA patients carrying the TT genotype of the IL33 rs3939286 polymorphism had lower cIMT values than those homozygous for the CC genotype (mean ± standard deviation (SD): 0.71 ± 0.14 mm versus 0.76 ± 0.16 mm, respectively) while patients carrying the CT genotype had intermediate cIMT values (mean ± SD: 0.73 ± 0.17 mm). Moreover, RA patients carrying the mutant allele T of the IL33 rs3939286 polymorphism exhibited significantly lower cIMT values than those carrying the wild allele C (mean ± SD: 0.72 ± 0.16 mm versus 0.75 ± 0.18 mm respectively; p = 0.04). The association of both genotype and allele frequencies of IL33 rs3939286 and cIMT levels remained statistically significant after adjustment for sex, age at the time of US study, follow-up and center (p = 0.006 and p = 0.0023, respectively), evidencing that the potential effect conferred by IL33 rs3939286 may be independent of confounder factors. No association with other IL33-IL1RL1 genetic variants was observed. Conclusions In conclusion, our results may suggest a potential protective effect of the IL33 rs3939286 allele T in the risk of subclinical atherosclerosis in patients with RA. PMID:26571131

  6. Protective Role of the Interleukin 33 rs3939286 Gene Polymorphism in the Development of Subclinical Atherosclerosis in Rheumatoid Arthritis Patients.

    Science.gov (United States)

    López-Mejías, Raquel; Genre, Fernanda; Remuzgo-Martínez, Sara; Robustillo-Villarino, Montserrat; García-Bermúdez, Mercedes; Llorca, Javier; Corrales, Alfonso; González-Juanatey, Carlos; Ubilla, Begoña; Miranda-Filloy, José A; Mijares, Verónica; Pina, Trinitario; Blanco, Ricardo; Alegre-Sancho, Juan J; Ramírez Huaranga, Marco A; Mínguez Sánchez, María D; Tejera Segura, Beatriz; Ferraz-Amaro, Iván; Vicente, Esther; Carmona, F David; Castañeda, Santos; Martín, Javier; González-Gay, Miguel A

    2015-01-01

    To determine whether the interleukin-33 (IL-33)-interleukin-1 receptor like 1 (IL-1RL1) signaling pathway is implicated in the risk of subclinical atherosclerosis in patients with rheumatoid arthritis (RA). A total of 576 Spanish RA patients from Northern Spain were genotyped for 6 well-known IL33-IL1RL1 polymorphisms (IL33 rs3939286, IL33 rs7025417, IL33 rs7044343, IL1RL1 rs2058660, IL1RL1 rs2310173 and IL1RL1 rs13015714) by TaqMan genotyping assay. The presence of subclinical atherosclerosis was determined by the assessment of carotid intima-media thickness (cIMT) by carotid ultrasound (US). RA patients carrying the TT genotype of the IL33 rs3939286 polymorphism had lower cIMT values than those homozygous for the CC genotype (mean ± standard deviation (SD): 0.71 ± 0.14 mm versus 0.76 ± 0.16 mm, respectively) while patients carrying the CT genotype had intermediate cIMT values (mean ± SD: 0.73 ± 0.17 mm). Moreover, RA patients carrying the mutant allele T of the IL33 rs3939286 polymorphism exhibited significantly lower cIMT values than those carrying the wild allele C (mean ± SD: 0.72 ± 0.16 mm versus 0.75 ± 0.18 mm respectively; p = 0.04). The association of both genotype and allele frequencies of IL33 rs3939286 and cIMT levels remained statistically significant after adjustment for sex, age at the time of US study, follow-up and center (p = 0.006 and p = 0.0023, respectively), evidencing that the potential effect conferred by IL33 rs3939286 may be independent of confounder factors. No association with other IL33-IL1RL1 genetic variants was observed. In conclusion, our results may suggest a potential protective effect of the IL33 rs3939286 allele T in the risk of subclinical atherosclerosis in patients with RA.

  7. Fermentation RS3 derived from sago and rice starch with Clostridium butyricum BCC B2571 or Eubacterium rectale DSM 17629.

    Science.gov (United States)

    Purwani, Endang Yuli; Purwadaria, Tresnawati; Suhartono, Maggy Thenawidjaja

    2012-02-01

    Resistant starch type 3 (RS3) is retrograded starch which is not digested by human starch degrading enzyme, and will thus undergo bacterial degradation in the colon. The main fermentation products are the Short Chain Fatty Acid (SCFA): acetate, propionate and butyrate. SCFA has significant benefit impact on the metabolism of the host. The objectives of this research were to study the SCFA profile produced by colonic butyrate producing bacteria grown in medium containing RS3. RS3 was made from sago or rice starch treated with amylase, pullulanase and the combination of amylase and pullulanase. Fermentation study was performed by using Clostridium butyricum BCC B2571 or Eubacterium rectale DSM 17629, which has been identified as capable of degradation of starch residue and also regarded as beneficial bacteria. Experimental result revealed that enzyme hydrolysis of retrograded sago or rice starch was beneficial to RS formation. RS3 derived from sago contained higher RS (31-38%) than those derived from rice starch (21-26%). This study indicated that C. butyricum BCC B2571 produced acetate, propionate and butyrate at molar ratio of 1.8 : 1 : 1, when the medium was supplemented with RSSA at concentration 1%. In the medium containing similar substrate, E. rectale DSM 17629 produced acetate, propionate and butyrate at molar ratio of 1.7 : 1 : 1.2. High levels of acetate, propionate and butyrate at molar ratio of 1.8 : 1 : 1.1 was also produced by E. rectale DSM 17629 in medium supplemented with RSSP at concentration 1%. The results showed that both bacteria responded differently to the RS3 supplementation. Such result provided insight into the possibility of designing RS3 as prebiotic with featured regarding SCFA released in the human colon with potential health implication. Copyright © 2011 Elsevier Ltd. All rights reserved.

  8. A Genetic Polymorphism (rs17251221 in the Calcium-Sensing Receptor is Associated with Breast Cancer Susceptibility and Prognosis

    Directory of Open Access Journals (Sweden)

    Xiaoyan Li

    2014-01-01

    Full Text Available Background: Calcium-sensing receptor (CaSR is a typical G protein coupled receptor. The rs17251221 SNP is located in an intron of the CaSR gene, and the G allele is considered a gain of function mutation. Previous studies revealed that rs17251221 polymorphisms contribute to the risk of developing certain types of cancers. This study investigated the rs17251221 SNP in breast cancer by analyzing the correlation of the rs17251221 genotype with breast cancer susceptibility, clinicopathological features and prognosis. Methods: A TaqMan assay was used to genotype the rs17251221 SNP in a case-control study. The expression levels of CaSR in breast cancer tissues were determined using quantitative reverse-transcription PCR (qRT-PCR and western blot analysis. The association of the rs17251221 genotype and the clinicopathological characteristics, as well as the prognosis of the breast cancer patient, was assessed statistically. Results: We found that the AG and GG genotypes were associated with lower mRNA and protein levels of CaSR compared to the AA genotype in breast cancer tissues. We also found that the AG and GG genotypes were associated with breast cancer susceptibility, the patient's age at diagnosis, tumor size, lymph node metastasis and estrogen receptor status of breast cancer tissue. More importantly, we found that the genotypes were prognostic markers for both disease-free survival and overall survival of breast cancer. Conclusion: The rs17251221 SNP is a risk factor associated with breast cancer susceptibility, as well as a prognostic indicator. Our data suggest that rs17251221 may be a potential therapeutic target in breast cancer.

  9. Relationships between the ABO blood group SNP rs505922 and breast cancer phenotypes: a genotype-phenotype correlation study

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    Rummel Seth

    2012-05-01

    Full Text Available Abstract Background To date, evaluation of the association of the ABO blood group and breast cancer has yielded mixed results. SNP rs505922, located within the first intron of the ABO gene, has been associated with the adenocarcinoma subtype of pancreatic cancer. To evaluate the association between genetic variation in the ABO blood group and risk of breast cancer, rs505922 was genotyped in 629 Caucasian women with invasive breast cancer, representing a variety of clinical and pathological tumor types. Methods Genomic DNA was isolated from blood. TaqMan SNP assay C_2253769_10 was used to determine genotypes for each patient at rs505922. Statistical analysis was performed using chi-square analysis using a P-value Results Genotypes were generated for 100% of the 629 patients in this study. Allele and genotype frequencies did not vary significantly for age at diagnosis, tumor stage, size or grade, hormone, HER2 or lymph node status, intrinsic subtype, tumor type or patient outcome. Conclusions Allele frequencies for rs505922 did not differ between women with breast cancer and published HapMap frequencies from women of European descent. Further stratification into different tumor phenotypes also failed to reveal an association between rs505922 and any clinical characteristics. Together, these data suggest that the minor allele of rs505922 and the resulting non-O blood types are not associated with increased risk or less favorable tumor characteristics or prognosis in breast cancer.

  10. The Role of CzcRS Two-Component Systems in the Heavy Metal Resistance of Pseudomonas putida X4

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    Pulin Liu

    2015-07-01

    Full Text Available The role of different czcRS genes in metal resistance and the cross-link between czcRS and czcCBA in Pseudomonas putida X4 were studied to advance understanding of the mechanisms by which P. putida copes with metal stress. Similar to P. putida KT2440, two complete czcRS1 and czcRS2 two-component systems, as well as a czcR3 without the corresponding sensing component were amplified in P. putida X4. The histidine kinase genes czcS1 and czcS2 were inactivated and fused to lacZ by homologous recombination. The lacZ fusion assay revealed that Cd2+ and Zn2+ caused a decrease in the transcription of czcRS1, whereas Cd2+ treatment enhanced the transcription of czcRS2. The mutation of different czcRSs showed that all czcRSs are necessary to facilitate full metal resistance in P. putida X4. A putative gene just downstream of czcR3 is related to metal ion resistance, and its transcription was activated by Zn2+. Data from quantitative real-time polymerase chain reaction (qRT-PCR strongly suggested that czcRSs regulate the expression of czcCBA, and a cross-link exists between different czcRSs.

  11. Eco-geographical diversification of bitter taste receptor genes (TAS2Rs) among subspecies of chimpanzees (Pan troglodytes).

    Science.gov (United States)

    Hayakawa, Takashi; Sugawara, Tohru; Go, Yasuhiro; Udono, Toshifumi; Hirai, Hirohisa; Imai, Hiroo

    2012-01-01

    Chimpanzees (Pan troglodytes) have region-specific difference in dietary repertoires from East to West across tropical Africa. Such differences may result from different genetic backgrounds in addition to cultural variations. We analyzed the sequences of all bitter taste receptor genes (cTAS2Rs) in a total of 59 chimpanzees, including 4 putative subspecies. We identified genetic variations including single-nucleotide variations (SNVs), insertions and deletions (indels), gene-conversion variations, and copy-number variations (CNVs) in cTAS2Rs. Approximately two-thirds of all cTAS2R haplotypes in the amino acid sequence were unique to each subspecies. We analyzed the evolutionary backgrounds of natural selection behind such diversification. Our previous study concluded that diversification of cTAS2Rs in western chimpanzees (P. t. verus) may have resulted from balancing selection. In contrast, the present study found that purifying selection dominates as the evolutionary form of diversification of the so-called human cluster of cTAS2Rs in eastern chimpanzees (P. t. schweinfurthii) and that the other cTAS2Rs were under no obvious selection as a whole. Such marked diversification of cTAS2Rs with different evolutionary backgrounds among subspecies of chimpanzees probably reflects their subspecies-specific dietary repertoires.

  12. Replicated association between the European GWAS locus rs10503253 at CSMD1 and schizophrenia in Asian population.

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    Liu, Weiqing; Liu, Fang; Xu, Xiufeng; Bai, Yan

    2017-04-24

    Schizophrenia is one of the most severe mental disorders with significant heritability. Recent genetic association studies including genome-wide association studies (GWAS) have identified multiple common variants conferring risk of schizophrenia. An intronic SNP within CSMD1, rs10503253, is one of the top risk SNPs for schizophrenia in Europeans discovered through large GWAS. However, whether rs10503253 is also a risk SNP for schizophrenia in other populations, such as Asians, is still unknown. To answer this question, we examined the association of rs10503253 with schizophrenia in a total of 7514 schizophrenia patients, 9058 healthy controls and 1115 nuclear families originated from Asia using a meta-analytic approach. In the meta-analysis of all the samples, we confirmed the association of rs10503253 A-allele with schizophrenia in Asian population (P-value=0.0093, odds ratio=1.062, 95% confidence interval=1.015-1.111), and no genetic heterogeneity between individual samples (P=0.810) was observed. Using the "Leave-one-out" sensitivity analysis, we further confirmed the association between rs10503253 and schizophrenia. These data show that rs10503253 is likely a common schizophrenia risk variant in multiple ethnic groups, and further studies regarding the underlying molecular mechanisms are needed. Copyright © 2017 Elsevier B.V. All rights reserved.

  13. Effects of the 5-HT(4) receptor agonist RS67333 and paroxetine on hippocampal extracellular 5-HT levels

    DEFF Research Database (Denmark)

    Licht, Cecilie Löe; Knudsen, Gitte Moos; Sharp, Trevor

    2010-01-01

    hippocampus during chloral hydrate anaesthesia, and explored the ability of RS67333 to augment the effect of the selective serotonin reuptake inhibitor paroxetine. The effect of RS67333 was examined after acute and subchronic (3 days) administration. Acute RS67333 (1.5mg/kg i.v.) had no effect...... on extracellular 5-HT or 5-HIAA levels, while acute paroxetine (0.5mg/kg i.v.) increased 5-HT levels by 299+/-16% and decreased 5-HIAA levels by 25+/-4%. Administration of RS67333 80 min after paroxetine caused an additional transient increase in 5-HT levels (to 398+/-52% of baseline). Subchronic RS67333...... administration (1.5mg/kg i.p.) increased basal 5-HT levels by 73+/-15% and decreased 5-HIAA levels by 27+/-13%. In conclusion, the 5-HT(4) receptor agonist RS67333 augmented the acute effect of paroxetine on extracellular 5-HT levels in the ventral hippocampus, and after 3 days increased basal hippocampal 5-HT...

  14. Television food advertisement exposure and FTO rs9939609 genotype in relation to excess consumption in children.

    Science.gov (United States)

    Gilbert-Diamond, D; Emond, J A; Lansigan, R K; Rapuano, K M; Kelley, W M; Heatherton, T F; Sargent, J D

    2017-01-01

    Exposure to food advertisements may cue overeating among children, especially among those genetically predisposed to respond to food cues. We aimed to assess how television food advertisements affect eating in the absence of hunger among children in a randomized trial. We hypothesized that the fat mass and obesity-associated gene (FTO) rs9939609 single-nucleotide polymorphism would modify the effect of food advertisements. In this randomized experiment, 200 children aged 9-10 years were served a standardized lunch and then shown a 34-min television show embedded with either food or toy advertisements. Children were provided with snack food to consume ad libitum while watching the show and we measured caloric intake. Children were genotyped for rs9939609 and analyses were conducted in the overall sample and stratified by genotype. A formal test for interaction of the food advertisement effect on consumption by rs9939609 was conducted. About 172 unrelated participants were included in this analysis. Children consumed on average 453 (s.d.=185) kcals during lunch and 482 (s.d.=274) kcals during the experimental exposure. Children who viewed food advertisements consumed an average of 48 kcals (95% confidence interval: 10, 85; P=0.01) more of a recently advertised food than those who viewed toy advertisements. There was a statistically significant interaction between genotype and food advertisement condition (P for interaction=0.02), where the difference in consumption of a recently advertised food related to food advertisement exposure increased linearly with each additional FTO risk allele, even after controlling for body mass index percentile. Food advertisement exposure was associated with greater caloric consumption of a recently advertised food, and this effect was modified by an FTO genotype. Future research is needed to understand the neurological mechanism underlying these associations.

  15. Association between IL-13 Gene rs20541 Polymorphism and Glioma Susceptibility: A Meta-Analysis.

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    Yang, Dong; Yuan, Yue; Zhang, Sixun; Zhao, Kuiming; Li, Fang; Ren, Hongxiang; Zhang, Zhe; Yu, Yanbing

    2018-01-01

    We performed a meta-analysis to estimate the association between IL-13 gene rs20541 (R130Q) polymorphism and the susceptibility of glioma. Potentially eligible studies published before February 1, 2016 were searched in 4 databases including PubMed, EMBASE, EBSCO, and Ovid. Odds ratios (ORs) and their corresponding 95% confidence intervals (95% CIs) were used to estimate the strength of relationship between the IL-13 gene rs20541 polymorphism and glioma susceptibility. Stata 11.0 software was used to perform the present meta-analysis. In total, 10 case-control studies with 13 datasets including 3,123 cases and 5,390 controls were identified. A significant increase in glioma susceptibility was found in the dominant model (AA + AG vs. GG: OR = 1.14, 95% CI 1.01-1.29; P = 0.031). Significantly decreasing glioma susceptibility was found for Asians in the heterozygote comparison (AG vs. GG: OR = 0.74, 95% CI 0.55-0.99; P = 0.042) and the allele contrast genetic model (A vs. G: OR = 0.67, 95% CI 0.47-0.96; P = 0.028). By contrast, in Caucasians, a significant increase in glioma susceptibility was found in the dominant model (AA + AG vs. GG: OR = 1.25, 95% CI 1.11-1.41; P = 0.000). There may be a weak association between the IL-13 gene rs20541 polymorphism and glioma susceptibility, and the associations may be different between ethnicities. © 2018 S. Karger GmbH, Freiburg.

  16. Television food advertisement exposure and FTO rs9939609 genotype in relation to excess consumption in children

    Science.gov (United States)

    Gilbert-Diamond, Diane; Emond, Jennifer A.; Lansigan, Reina K.; Rapuano, Kristina M.; Kelley, William M.; Heatherton, Todd F.; Sargent, James D.

    2016-01-01

    BACKGROUND/OBJECTIVE Exposure to food advertisements may cue overeating among children, especially among those genetically predisposed to respond to food cues. We aimed to assess how television food advertisements affect eating in the absence of hunger among children in a randomized trial. We hypothesized that the Fat Mass and Obesity Associated Gene (FTO) rs9939609 single nucleotide polymorphism would modify the effect of food advertisements. SUBJECTS/METHODS In this randomized experiment, 200 children aged 9–10 years old were served a standardized lunch and then shown a 34-minute television show embedded with either food or toy advertisements. Children were provided with snack food to consume ad libitum while watching the show and we measured caloric intake. Children were genotyped for rs9939609 and analyses were conducted in the overall sample and stratified by genotype. A formal test for interaction of the food ad effect on consumption by rs9939609 was conducted. RESULTS 172 unrelated participants were included in this analysis. Children consumed on average 453 (SD=185) kCals during lunch and 482 (SD=274) kCals during the experimental exposure. Children who viewed food advertisements consumed an average of 48 kCals (95% CI: 10, 85; P=0.01) more of a recently advertised food than those who viewed toy advertisements. There was a statistically significant interaction between genotype and food advertisement condition (P for interaction = 0.02), where the difference in consumption of a recently advertised food related to food advertisement exposure increased linearly with each additional FTO risk allele, even after controlling for BMI percentile. CONCLUSIONS Food advertisement exposure was associated with greater caloric consumption of a recently advertised food, and this effect was modified by an FTO genotype. Future research is needed to understand the neurological mechanism underlying these associations. PMID:27654143

  17. Association between SNCA rs2736990 polymorphism and Parkinson's disease: a meta-analysis.

    Science.gov (United States)

    Fang, Jinni; Hou, Binghui; Liu, Hongxin; Zhang, Xiaona; Wang, Jing; Zhou, Chang; Xie, Anmu

    2017-09-29

    Emerging evidence suggests that the SNP rs2736990 of SNCA is a susceptibility factor for idiopathic Parkinson's disease (PD) in different populations, but the studies which examined the association have provided inconsistent results. Therefore, we performed a meta-analysis of some case-control studies to obtain a more exact estimation of there associations. All the relevant studies were extracted from PubMed, Embase, EBSCO, Chineses national knowledge infrastructure, Google Scholar and Wanfang databases (up to February 2017). A total of six studies with 2525 PD cases and 2165 controls were eventually enrolled in the present meta-analysis based on the strict inclusion and exclusion criteria. The pooled analysis showed that there is a significant association between rs2736990 polymorphism and PD susceptibility in all genetic models (T vs. C: OR=0.772, 95%CI: 0.709-0.840, P=0.001; TT vs. CC: OR=0.586, 95%CI: 0.490-0.701, P=0.001; TC vs. CC: OR=0.814, 95%CI: 0.716-0.925, P=0.002; TT+TC vs. CC: OR=0.752, 95%CI: 0.666-0.848, P=0.001; TT vs. TC+CC: OR=0.658, 95%CI: 0.561-0.772, P=0.001). Our meta-analysis provides evidence that the T allele, TT and TC genotype of rs2736990(C/T) polymorphism may decrease the risk of PD. Copyright © 2017 Elsevier B.V. All rights reserved.

  18. CCL5 rs2107538 Polymorphism Increased the Risk of Tuberculosis in a Sample of Iranian Population

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    Hamid Reza Kouhpayeh

    2016-01-01

    Full Text Available Cysteine-cysteine chemokine ligand 5 (CCL5 with immunoregulatory and inflammatory activities has an important role in granuloma formations that activates and stimulates T-cells and macrophages. Cysteine-cysteine chemokine receptor 5 (CCR5 is a chemokine receptor, which is important for migration of immune cells to site of infection. In the present study we investigated the possible association between CCL5 –403G/A (rs2107538, CCL5 –28C/G (rs2280788 and CCR5 Δ32 polymorphisms and pulmonary tuberculosis (PTB in an Iranian population. This case-control study was performed on 160 patients with pulmonary tuberculosis and 160 unrelated healthy subjects. The CCL5 –403G/A, CCL5 –28C/G and CCR5 Δ32 polymorphisms were genotyped by allele-specific polymerase chain reaction (AS-PCR, tetra amplification refractory mutation system polymerase chain reaction (T-ARMS PCR and PCR, respectively. Our results showed that GA as well as GA+AA genotypes of CCL5 –403G/A (rs2107538 increased the risk of PTB in comparison with GG genotype (OR=1.70, 95% CI=1.03–2.81, P=0.038 and OR=1.64, 95% CI=1.00–2.68, P=0.049, respectively. No significant association was found between CCL5 –28C/G as well as CCR5 Δ32 polymorphism and PTB risk. In conclusion, our findings proposed that CCL5 –403G>A polymorphism may be a risk factor for susceptibility to PTB in our population. Larger sample sizes with different ethnicities are required to validate our findings.

  19. Non-Systematic Complex Number RS Coded OFDM by Unique Word Prefix

    Science.gov (United States)

    Huemer, Mario; Hofbauer, Christian; Huber, Johannes B.

    2012-01-01

    In this paper we expand our recently introduced concept of UW-OFDM (unique word orthogonal frequency division multiplexing). In UW-OFDM the cyclic prefixes (CPs) are replaced by deterministic sequences, the so-called unique words (UWs). The UWs are generated by appropriately loading a set of redundant subcarriers. By that a systematic complex number Reed Solomon (RS) code construction is introduced in a quite natural way, because an RS code may be defined as the set of vectors, for which a block of successive zeros occurs in the other domain w.r.t. a discrete Fourier transform. (For a fixed block different to zero, i.e., a UW, a coset code of an RS code is generated.) A remaining problem in the original systematic coded UW-OFDM concept is the fact that the redundant subcarrier symbols disproportionately contribute to the mean OFDM symbol energy. In this paper we introduce the concept of non-systematic coded UW-OFDM, where the redundancy is no longer allocated to dedicated subcarriers, but distributed over all subcarriers. We derive optimum complex valued code generator matrices matched to the BLUE (best linear unbiased estimator) and to the LMMSE (linear minimum mean square error) data estimator, respectively. With the help of simulations we highlight the advantageous spectral properties and the superior BER (bit error ratio) performance of non-systematic coded UW-OFDM compared to systematic coded UW-OFDM as well as to CP-OFDM in AWGN (additive white Gaussian noise) and in frequency selective environments.

  20. Considering aspects of the 3Rs principles within experimental animal biology.

    Science.gov (United States)

    Sneddon, Lynne U; Halsey, Lewis G; Bury, Nic R

    2017-09-01

    The 3Rs - Replacement, Reduction and Refinement - are embedded into the legislation and guidelines governing the ethics of animal use in experiments. Here, we consider the advantages of adopting key aspects of the 3Rs into experimental biology, represented mainly by the fields of animal behaviour, neurobiology, physiology, toxicology and biomechanics. Replacing protected animals with less sentient forms or species, cells, tissues or computer modelling approaches has been broadly successful. However, many studies investigate specific models that exhibit a particular adaptation, or a species that is a target for conservation, such that their replacement is inappropriate. Regardless of the species used, refining procedures to ensure the health and well-being of animals prior to and during experiments is crucial for the integrity of the results and legitimacy of the science. Although the concepts of health and welfare are developed for model organisms, relatively little is known regarding non-traditional species that may be more ecologically relevant. Studies should reduce the number of experimental animals by employing the minimum suitable sample size. This is often calculated using power analyses, which is associated with making statistical inferences based on the P-value, yet P-values often leave scientists on shaky ground. We endorse focusing on effect sizes accompanied by confidence intervals as a more appropriate means of interpreting data; in turn, sample size could be calculated based on effect size precision. Ultimately, the appropriate employment of the 3Rs principles in experimental biology empowers scientists in justifying their research, and results in higher-quality science. © 2017. Published by The Company of Biologists Ltd.

  1. Molecular and pathological characterization of the EZH2 rs3757441 single nucleotide polymorphism in colorectal cancer.

    Science.gov (United States)

    Fornaro, Lorenzo; Faviana, Pinuccia; De Gregorio, Veronica; Vivaldi, Caterina; Paolicchi, Elisa; Masi, Gianluca; Loupakis, Fotios; Sensi, Elisa; Lupi, Cristiana; Fontanini, Gabriella; Wang, Yuzhuo; Danesi, Romano; Falcone, Alfredo; Crea, Francesco

    2015-11-09

    The enhancer of zeste-homolog 2 (EZH2) is involved in cancer development through gene silencing by trimethylation of lysine 27 of histone 3 (H3K27me3). The C/C genotype for the EZH2 rs3757441 single-nucleotide polymorphism (SNP) is linked with poor prognosis in metastatic colorectal cancer (CRC), but molecular and pathological characterization of this SNP is lacking. 119 primary CRCs were analyzed. SNP was evaluated by real-time PCR from colonic healthy tissue, while EZH2 and H3K27me3 expression were studied by immunohistochemistry. We primarily looked for correlation between EZH2 rs3757441 genotypes and EZH2/H3K27me3 expression. Potential associations between EZH2/H3K27me3 expression and clinico-pathological features or KRAS exon 2 and BRAF exon 15 mutations were secondary endpoints. Statistical analysis was performed by chi-square test, T-test or ANOVA. The C/C genotype was significantly associated with higher EZH2 (100 vs. 44 %; P = 0.019) and H3K27me3 (100 vs. 38 %; P = 0.009) staining intensity compared with C/T and T/T. EZH2 3+ staining significantly correlated with stronger H3K27me3 expression (P = 0.039). KRAS and BRAF mutations were not associated with EZH2 or H3K27me3 expression. EZH2 rs3757441 C/C genotype is associated with stronger EZH2 and H3K27me3 immunoreactivity in primary CRC: this SNP may serve as a promising biomarker for EZH2-targeting agents and may add independent information to KRAS and BRAF testing.

  2. XRCC7 rs#7003908 Polymorphism and Helicobacter pylori Infection-Related Gastric Antrum Adenocarcinoma

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    Chao Wang

    2013-01-01

    Full Text Available The X-ray repair cross-complementing group 7 (XRCC7 plays a key role in DNA repair that protects against genetic instability and carcinogenesis. To determine whether XRCC7 rs#7003908 polymorphism (XRCC7P is associated with Helicobacter pylori (H. pylori infection-related gastric antrum adenocarcinoma (GAA risk, we conducted a hospital-based case-control study, including 642 patients with pathologically confirmed GAA and 927 individually matched controls without any evidence of tumours or precancerous lesions, among Guangxi population. Increased risks of GAA were observed for individuals with cagA positive (odds ratio (OR 6.38; 95% confidence interval (CI 5.03–8.09. We also found that these individuals with the genotypes of XRCC7 rs#7003908 G alleles (XRCC7-TG or -GG featured increasing risk of GAA (ORs 2.80 and 5.13, resp., compared with the homozygote of XRCC7 rs#7003908 T alleles (XRCC7-TT. GAA risk, moreover, did appear to differ more significantly among individuals featuring cagA-positive status, whose adjusted ORs (95% CIs were 15.74 (10.89–22.77 for XRCC7-TG and 38.49 (22.82–64.93 for XRCC7-GG, respectively. Additionally, this polymorphism multiplicatively interacted with XRCC3 codon 241 polymorphism with respect to HCC risk (ORinteraction=1.49. These results suggest that XRCC7P may be associated with the risk of Guangxiese GAA related to cagA.

  3. Quedas e fatores associados em idosos institucionalizados no município de Pelotas (RS, Brasil Falls and associated factors in institutionalized elderly people in Pelotas (RS, Brazil

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    Maitê Peres de Carvalho

    2011-06-01

    Full Text Available O crescimento da população idosa tem despertado o interesse dos profissionais de saúde por ser o envelhecimento um processo importante à saúde. Um estudo com delineamento transversal de base institucional foi realizado com indivíduos de 65 anos ou mais residentes em instituições de idosos no município de Pelotas (RS com o objetivo de verificar a prevalência de quedas e verificar alguns fatores associados a esse evento. A prevalência de quedas encontrada foi de 33,5%, sendo o quarto o local de maior prevalência (37%. Do total de indivíduos que relataram alguma queda, 16,9% fraturaram-se devido à queda. Cerca de 70% das quedas ocorreram na instituição. O tornozelo e o quadril foram os locais anatômicos de maior prevalência desse agravo, com 33,3%. Concluímos que a prevalência de quedas em idosos institucionalizados é alta e os agravos decorrentes das mesmas são preocupantes. Fazem-se necessárias medidas de intervenção por parte dos gestores e profissionais da saúde no sentido de minimizar esses índices e de proporcionar melhor qualidade de vida para os idosos institucionalizados.The ageing of the population generates interest among health professionals, because of its importance for health. A cross-sectional study was carried out including institutionalized subjects aged over 65 from Pelotas (RS, Brazil. The aim was to investigate the prevalence of falls and associated factors. The prevalence of falls was 33.5%; the most frequent place in which falls occurred was the bedroom (37%. Of all falls, 16.9% resulted in a fracture. Approximately 70% of the falls took place at the institution in which the subjects live. Ankles and hips were the most frequently anatomic sites fractured (33,3%. The prevalence of falls among the elderly was high and the consequences of such falls are worrying. Prevention strategies by healthcare professionals and managers are urgently needed in order to minimize the burden of falls and thus enhance

  4. Matrizes progressivas coloridas de Raven - escala especial: normas para Porto Alegre, RS The Raven's coloured progressive matrices: norms for Porto Alegre, RS

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    Denise Ruschel Bandeira

    2004-12-01

    Full Text Available O Teste das Matrizes Progressivas Coloridas de Raven destina-se à avaliação do desenvolvimento intelectual de crianças de 5 a 11 anos de idade. O presente trabalho teve como objetivo estabelecer normas para as crianças de Porto Alegre - RS. A amostra foi composta por 779 crianças matriculadas em escolas estaduais, de 4 anos e 9 meses a 11 anos e 9 meses. Foi constatado aumento progressivo nas médias de pontos com o aumento da idade e não foram encontradas diferenças entre meninos e meninas. Na comparação com as crianças de escolas públicas de São Paulo, as médias das crianças de Porto Alegre foram mais altas, mas em geral foram inferiores às das escolas particulares de São Paulo. Foram estabelecidas as normas em percentis para cada faixa etária. Os resultados reforçam a necessidade do estabelecimento de normas distintas para as diferentes regiões do Brasil, principalmente em relação aos testes de inteligência.The Raven's Coloured Progressive Matrices was proposed standards to Porto Alegre (RS children. The sample was composed by 779 children from Porto Alegre state public schools, aged from 4 years and 9 months to 11 years and 9 months. It was found a progressive increase in average scores as age increased and it was not verified differences between boys and girls. Comparing average scores between children from São Paulo and Porto Alegre public schools we found that the average scores from Porto Alegre children was higher, but they were lower than the scores from São Paulo private schools children. Percentile ranks were obtained to each age level with range of six months. Research results show the need to establish specific norms to different Brazilian regions, mainly concerning intelligence tests.

  5. Ovulações múltiplas em éguas abatidas em Pelotas-RS Multiple ovulation in slaughtered mares - Pelotas-RS

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    Claudio Alves Pimentel

    1995-01-01

    Full Text Available O presente trabalho descreve a frequência de ovulações múltiplas em 3631 éguas, abatidas em Pelotas - RS, durante o período de janeiro de 1988 a setembro de 1989, com a predominância de sangue da raça Crioula. A maior frequência de ovulações múltiplas ocorreu no mês de fevereiro (19%, diminuindo progressivamente até setembro (0,4%. Este resultado mostra que o fotoperíodo exerce uma influência positiva sobre a atividadc ovariana, inclusive no que tange ao número de ovulações por ciclo. A frequência média geral de ovulações múltiplas foi 7,1% (257/3631. A taxa média de ovulações duplas foi de 6,5% (235/3631, tripla de 0,5% (19/3631 e quádrupla, 0,1% (3/3631. Os meses de dezembro a abril mostraram as maiores frequências sobre o total das ovulações múltiplas (65,5%. Estas informações podem representar um importante subsídio ao manejo reprodutivo da raça crioula, visando controlar o sério problema que as gestações gemelares representam na espécie equina.This paper describes the frequency of multiple ovulations in 3631 mares, slaughtered in Pelotas - RS, predominantly from Crioulo breed. The higher frequency of multiple ovulation ocurred in February (19%, decreasing progressively up to September (0.4%. This result shows that the photoperiod has a positive influence on the ovarian activity, even on the number of ovulations per cycle. The overall mean of multiple ovulation was 7.1% (257/3631. Double ovulations ocurred in 6.5% (235/3631, triple in 0.5% (19/3631 and quadruple in 0.1% (3/3631. The months from December to April presented the highest frequencies over all multiple ovulations (65.5%. These observations may represent an importante support to reproductive management of the Crioulo breed in order to control the serious problem that represents twin pregnancies in equine.

  6. Impact of TNF-α (rs1800629 and IL-6 (rs1800795 Polymorphisms on Cognitive Impairment in Asian Breast Cancer Patients.

    Directory of Open Access Journals (Sweden)

    Jung-Woo Chae

    Full Text Available Expression of pro-inflammatory cytokines is influenced by single nucleotide polymorphisms (SNPs in the promoter regions of the pro-inflammatory cytokine genes, and cytokines are associated with the occurrence of post-chemotherapy cognitive impairment. Hence, the aim of this study was to evaluate the associations between two common pro-inflammatory cytokine gene polymorphisms namely, IL6-174 (rs1800795 G>C and TNF-308 (rs1800629 G>A, and chemotherapy-associated cognitive impairment (CACI among Asian early-stage breast cancer patients. In addition, the differential effect of these SNPs on plasma IL-6 and TNF-α levels, and the associations of plasma IL-6 and TNF-α levels with CACI were also assessed.Asian early-stage breast cancer patients (Stage I to III receiving chemotherapy were prospectively recruited from two cancer centers in Singapore. Patients' cognitive function was longitudinally assessed using the validated FACT-Cog (ver. 3 and an objective computerized battery, Headminder™ at three-time points. Plasma IL-6 and TNF-α levels were analyzed using the multiplex immunoassay, and genotyping was performed using Sanger sequencing. Regression analyses and generalized estimating equation were utilized for statistical analysis.A total of 125 patients were included (mean age: 50.3; Chinese: 80.8%; post-menopausal: 48.0%; 68.0% received anthracycline-based chemotherapy. 36.8% patients experienced self-perceived cognitive impairment, detected in memory (32.8% and attention (34.2% domains. Patients with higher levels of anxiety (p<0.001 and insomnia (p = 0.003 also reported more self-perceived cognitive impairment. Higher plasma concentrations of IL-6 were associated with greater severity of self-perceived cognitive impairment (p = 0.001. Polymorphisms of cytokine genes were not associated with expression of plasma cytokines.Present findings further contribute to the growing evidence that supports the role of the pro-inflammatory cytokine IL-6 in

  7. DIAGNOSIS OF SOLID WASTE MANAGEMENT IN THE TOWN OF SÃO LEOPOLDO - RS

    OpenAIRE

    Roberto Naime; Karin Luise dos Santos; Jaqueline Michaelsen

    2011-01-01

    This study analyzes the current solid waste management in the municipality of Sao Leopoldo, located in the river basin of the Bells, the metropolitan region of Porto Alegre-RS. Based on data of the City Hall, are described and evaluated all the processes involved from generation to final disposal of domestic solid waste from the city. The municipality of Sao Leopoldo is the second largest municipality integral basin river valley of the Bells. It counts on a former landfill where it operates a...

  8. Microminerais para bovinos de corte nas pastagens nativas dos Campos de Cima da Serra, RS, Brasil

    OpenAIRE

    Wunsch Carolina; Barcellos Júlio Otávio Jardim; Prates Ênio Rosa; Grecellé Roberto Andrade; Costa Eduardo Castro da

    2005-01-01

    Em face das poucas informações disponíveis sobre a composição mineral das pastagens nativas da região dos Campos de Cima da Serra (RS), o presente trabalho de pesquisa objetivou avaliar os teores dos principais microminerais, em diferentes épocas do ano, e relacionar o perfil mineral destas pastagens com as necessidades nutricionais recomendadas pelo NRC (1996) para bovinos de corte. O projeto foi conduzido em vinte propriedades particulares, em Cambará do Sul, utilizando áreas de campo nativ...

  9. Southern RS CVn systems - Candidate list. [spectral catalog of variable binary stars

    Science.gov (United States)

    Weiler, E. J.; Stencel, R. E.

    1979-01-01

    A list of 43 candidate RS CVn binary systems in the far southern hemisphere of the sky (south of -40 deg declination) is presented. The candidate systems were selected from the first two volumes of the Michigan Spectral Catalog (1975, 1978), which provides MK classifications for southern HD stars and identifies any unusual characteristics noted for individual stellar spectra. The selection criteria used were: (1) the occurrence of Ca II H and K emission; (2) known or suspected binary nature; (3) regular light variations of zero to one magnitude; and (4) spectral type between F0 and K2 and luminosity less than bright giant (II).

  10. Coastal geomorphology and land use changes along coastal parts of Goa: An RS-GIS approach

    Digital Repository Service at National Institute of Oceanography (India)

    Samanta, S.; Kunte, P.D.; Mahender, K.

    stream_size 33992 stream_content_type text/plain stream_name GSDI_World_Conf_Proc_ID106a.pdf.txt stream_source_info GSDI_World_Conf_Proc_ID106a.pdf.txt Content-Encoding UTF-8 Content-Type text/plain; charset=UTF-8...             Proceeding of GSDI 13; 2012; ID-106, 30 pp Proceedings of Global Geospatial Conference 2012 Québec City, Canada, 14-17 May 2012 Coastal Geomorphology and Landuse Changes along Coastal parts of Goa: An RS-GIS Approach S. Samanta 1 , Pravin D...

  11. Limits of Freedom Expression: Analasys of HC 82.424/RS CASE

    Directory of Open Access Journals (Sweden)

    Nayara Gallieta Borges

    2016-12-01

    Full Text Available The right to freedom of expression is constitutionally guaranteed in the Brazilian democratic polity. However, this right is not absolute: it finds limits of ethics and law. The limits of freedom of expression are evident when we apply the principle of proportionality and balance with other rights provided for in our legal system in the light of the case. The relativization of freedom of expression in the judgment of HC 82,424 / RS has been a major paradigm shift in the jurisprudence of the Supreme Court and a case of great symbolic importance in the fundamental rights field.

  12. Very Short-Duration UV-B Optical Flares in RS CVn-type Star Systems

    Science.gov (United States)

    Vander Haagen, G. A.

    2013-06-01

    Very short duration UV-B optical flares were observed during a high-cadence search for conventional flares on three RS CVn type stars: AR Lac, II Peg, and UX Ari. A statistical criterion was developed for isolating these short-duration optical flares from random photon events. Five flares, ranging in duration from 30 to 85 ms with peaks 0.29-0.51 mag. above the mean, were detected within the 132 hours of monitoring time. The time resolution of the observations was 5 ms for AR Lac and 10 ms for II Peg and UX Ari.

  13. Optimal Scheduling for Retrieval Jobs in Double-Deep AS/RS by Evolutionary Algorithms

    Directory of Open Access Journals (Sweden)

    Kuo-Yang Wu

    2013-01-01

    Full Text Available We investigate the optimal scheduling of retrieval jobs for double-deep type Automated Storage and Retrieval Systems (AS/RS in the Flexible Manufacturing System (FMS used in modern industrial production. Three types of evolutionary algorithms, the Genetic Algorithm (GA, the Immune Genetic Algorithm (IGA, and the Particle Swarm Optimization (PSO algorithm, are implemented to obtain the optimal assignments. The objective is to minimize the working distance, that is, the shortest retrieval time travelled by the Storage and Retrieval (S/R machine. Simulation results and comparisons show the advantages and feasibility of the proposed methods.

  14. Genetic variation in oxytocin rs2740210 and early adversity associated with postpartum depression and breastfeeding duration.

    Science.gov (United States)

    Jonas, W; Mileva-Seitz, V; Girard, A W; Bisceglia, R; Kennedy, J L; Sokolowski, M; Meaney, M J; Fleming, A S; Steiner, M

    2013-10-01

    Mothers vary in duration of breastfeeding. These individual differences are related to a variety of demographic and individual maternal factors including maternal hormones, mood and early experiences. However, little is known about the role of genetic factors. We studied single-nucleotide polymorphisms (SNPs) in the OXT peptide gene (rs2740210; rs4813627) and the OXT receptor gene (OXTR rs237885) in two samples of mothers from the Maternal adversity, Vulnerability and Neurodevelopment study (MAVAN), a multicenter (Hamilton and Montreal, Canada) study following mothers and their children from pregnancy until 7 years of age. Data from the Hamilton site was the primary sample (n = 201) and data from Montreal was the replication sample (n = 151). Breastfeeding duration, maternal mood (measured by the CES-D scale) and early life adversity (measured by the CTQ scale) were established during 12 months postpartum. In our primary sample, polymorphisms in OXT rs2740210, but not the other SNPs, interacted with early life adversity to predict variation in breastfeeding duration (overall F8,125  = 2.361, P = 0.021; interaction effect b = -8.12, t = -2.3, P = 0.023) and depression (overall F8,118  = 5.751, P ≤ 0.001; interaction effect b = 6.06, t = 3.13, P = 0.002). A moderated mediation model showed that higher levels of depression mediated the inverse relation of high levels of early life adversity to breastfeeding duration, but only in women possessing the CC genotype [effect a' = -3.3401, 95% confidence interval (CI) = -7.9466 to -0.0015] of the OXT SNP and not in women with the AA/AC genotype (a' = -1.2942, ns). The latter findings (moderated mediation model) were replicated in our Montreal sample (a' = -0.277, 95% CI = -0.7987 to -0.0348 for CC; a' = -0.1820, ns for AA/AC). © 2013 John Wiley & Sons Ltd and International Behavioural and Neural Genetics Society.

  15. Resveratrol-induced autophagy is dependent on IP3Rs and on cytosolic Ca2.

    Science.gov (United States)

    Luyten, Tomas; Welkenhuyzen, Kirsten; Roest, Gemma; Kania, Elzbieta; Wang, Liwei; Bittremieux, Mart; Yule, David I; Parys, Jan B; Bultynck, Geert

    2017-06-01

    Previous work revealed that intracellular Ca2+ signals and the inositol 1,4,5-trisphosphate (IP3) receptors (IP3R) are essential to increase autophagic flux in response to mTOR inhibition, induced by either nutrient starvation or rapamycin treatment. Here, we investigated whether autophagy induced by resveratrol, a polyphenolic phytochemical reported to trigger autophagy in a non-canonical way, also requires IP3Rs and Ca2+ signaling. Resveratrol augmented autophagic flux in a time-dependent manner in HeLa cells. Importantly, autophagy induced by resveratrol (80μM, 2h) was completely abolished in the presence of 10μM BAPTA-AM, an intracellular Ca2+-chelating agent. To elucidate the IP3R's role in this process, we employed the recently established HEK 3KO cells lacking all three IP3R isoforms. In contrast to the HEK293 wt cells and to HEK 3KO cells re-expressing IP3R1, autophagic responses in HEK 3KO cells exposed to resveratrol were severely impaired. These altered autophagic responses could not be attributed to alterations in the mTOR/p70S6K pathway, since resveratrol-induced inhibition of S6 phosphorylation was not abrogated by chelating cytosolic Ca2+ or by knocking out IP3Rs. Finally, we investigated whether resveratrol by itself induced Ca2+ release. In permeabilized HeLa cells, resveratrol neither affected the sarco- and endoplasmic reticulum Ca2+ ATPase (SERCA) activity nor the IP3-induced Ca2+ release nor the basal Ca2+ leak from the ER. Also, prolonged (4 h) treatment with 100μM resveratrol did not affect subsequent IP3-induced Ca2+ release. However, in intact HeLa cells, although resveratrol did not elicit cytosolic Ca2+ signals by itself, it acutely decreased the ER Ca2+-store content irrespective of the presence or absence of IP3Rs, leading to a dampened agonist-induced Ca2+ signaling. In conclusion, these results reveal that IP3Rs and cytosolic Ca2+ signaling are fundamentally important for driving autophagic flux, not only in response to m

  16. Association between BHMT gene rs3733890 polymorphism and cancer risk: evidence from a meta-analysis

    Directory of Open Access Journals (Sweden)

    Xu Y

    2016-08-01

    Full Text Available Yue Xu,1,* Cunye Yan,2,* Zongyao Hao,1 Jun Zhou,1 Song Fan,1 Sheng Tai,1 Cheng Yang,1 Li Zhang,1 Chaozhao Liang1 1Department of Urology, The First Affiliated Hospital of Anhui Medical University and Institute of Urology, 2First School of Clinical Medicine, Anhui Medical University, Hefei, Anhui, People’s Republic of China *These authors contributed equally to this work Background and objective: The gene betaine-homocysteine methyltransferase (BHMT has drawn much attention during the past decades. An increasing number of clinical and genetic investigations have supposed that BHMT rs3733890 polymorphism might be associated with risk of breast cancer and ovarian cancer. As no consistent conclusion has been achieved, we conducted an up-to-date summary of BHMT rs3733890 polymorphism and cancer risk through a meta-analysis. Materials and methods: The articles were collected from PubMed, Google Scholar, and CNKI (Chinese databases up to December 2015. Then, the correlations were determined by reading the titles and abstracts and by further reading the full text to filter the unqualified articles. Odds ratio (OR and the corresponding 95% confidence intervals (CI were used to assess the results. Results: Among 187 articles collected in the analysis, seven studies with a total of 2,832 cases and 3,958 controls were included for evaluation of the association between BHMT rs3733890 polymorphism and susceptibility of cancer risk. The heterogeneity test showed no significant differences. Furthermore, we found that BHMT –742G>A polymorphism in case and control groups showed no statistically significant association with susceptibility in various cancer types except for uterine cervical cancer (A vs G: OR =0.641, 95% CI =0.445–0.923, P=0.017; AA+AG vs GG: OR =0.579, 95% CI =0.362–0.924, P=0.022. In addition, no statistically significant association was uncovered when stratification analyses were conducted by ethnicity and genotyping methods. Conclusion

  17. Association of miR-149 (RS2292832 Variant with the Risk of Coronary Artery Disease

    Directory of Open Access Journals (Sweden)

    Ghaffarzadeh Maryam

    2017-09-01

    Full Text Available Background: Coronary artery disease (CAD is the most common cause of mortality and disability from incommunicable disease in the world. Although the association between the single nucleotide polymorphisms (SNPs in protein-coding genes and the risk of CAD has been investigated extensively, very few heart-disease associated studies concerning the SNPs in miRNA genes have been reported. The present study was performed to elucidate the association between the pre-microRNA-149 (miR-149 SNP rs2292832 and the risk of CAD in an Iranian population.

  18. Os hodônimos da cidade de Lajeado-RS: sua natureza, suas interfaces

    Directory of Open Access Journals (Sweden)

    Kleber Eckert

    2014-06-01

    Full Text Available O presente artigo propõe-se a fazer um estudo hodonímico a partir dos nomes das vias públicas de Lajeado-RS. Para tanto, fez-se um levantamento dos nomes de todas as ruas, avenidas e travessas constantes no mapa urbano do município, os quais foram classificados e analisados à luz das taxionomias propostas por Dick (1990. Para dar sustentação teórica ao estudo, discutiram-se questões relacionadas à onomástica, à toponímia e à hodonímia.

  19. Predisposing factors for falls in the elderly residents in western region of Santa Maria, RS

    OpenAIRE

    Piovesan, Ana Carla; Pivetta, Hedioneia Maria Foletto; Peixoto, Jaqueline Medianeira de Barros

    2011-01-01

    A fisioterapia desempenha importante papel na prevenção das quedas na pessoa idosa. Os objetivos deste estudo foram investigar os fatores de risco que predispõem a quedas em idosos residentes na Região Oeste de Santa Maria/ RS, assim como investigar a incidência de quedas, ao mesmo tempo em que se buscou desenvolver estratégias para a prevenção de quedas em idosos. A pesquisa foi do tipo descritivo-qualitativa. A amostra foi composta por 20 idosos, de ambos os sexos, com idade média de 75 ano...

  20. Infrared photometry of the RS CVn short-period systems - XY UMa and WY Cnc

    Energy Technology Data Exchange (ETDEWEB)

    Arevalo, M.J.; Lazaro, C. (Instituto de Astrofisica de Canarias, La Laguna (Spain))

    1990-03-01

    Infrared J and K light curves of two RS CVn short-period systems, XY UMa and WY Cnc, are presented. Both systems show similar variability in the infrared to that observed in the visual. From the colors an infrared excess is inferred for the primary component of both systems. A new determination of their geometrical elements is presented and the resulting parameters are compared to those previously obtained from visible photometry. The light curves show peculiarities that may indicate the presence of gas streams in the systems. 27 refs.

  1. Haplotype dependent association of rs7927894 (11q13.5) with atopic dermatitis and chronic allergic rhinitis: A study in ECAP cohort.

    Science.gov (United States)

    Ponińska, Joanna Kinga; Samoliński, Bolesław; Tomaszewska, Aneta; Raciborski, Filip; Samel-Kowalik, Piotr; Walkiewicz, Artur; Lipiec, Agnieszka; Piekarska, Barbara; Krzych-Fałta, Edyta; Namysłowski, Andrzej; Kostrzewa, Grażyna; Pawlik, Andrzej; Jasek, Monika; Wiśniewski, Andrzej; Kuśnierczyk, Piotr; Majewski, Sławomir; Płoski, Rafał

    2017-01-01

    The T allele of rs7927894 (at 11q13.5) was associated with atopic dermatitis and other allergic diseases. Our purpose was to replicate the association with allergic phenotypes and explore the role of rs7927894 in predisposing to persistent allergic rhinitis and atopic asthma. We also wanted to explore if other SNPs at 11q13.5 contributed to effect of rs7927894. We studied patients with atopic dermatitis (N = 270), atopic asthma (N = 486), persistent allergic rhinitis (N = 589) and controls matched for age, sex and region (N = 540, N = 372 and N = 1178, respectively). We found that rs7927894 T was associated with atopic dermatitis (OR = 1.39, CI: 1.12-1.73, P = 0.003) and independently with persistent allergic rhinitis (OR = 1.24, CI:1.07-1.43, P = 0.0043, Pcorrected = 0.013) but not atopic asthma. Analysis of additional tagging SNPs (rs7930763, rs2513517, rs7125552) showed that effect of rs7927894 T was limited to haplotypes encoding G at rs7125552. In conclusion, rs7927894 T is associated not only with atopic dermatitis but also persistent allergic rhinitis. Since these effects are haplotype dependent rs7927894 alone does not account for the association between 11q13.5 and atopic dermatitis/persistent allergic rhinitis.

  2. A putative gene sbe3-rs for resistant starch mutated from SBE3 for starch branching enzyme in rice (Oryza sativa L..

    Directory of Open Access Journals (Sweden)

    Ruifang Yang

    Full Text Available Foods high in resistant starch (RS are beneficial to prevent various diseases including diabetes, colon cancers, diarrhea and chronic renal or hepatic diseases. Elevated RS in rice is important for public health since rice is a staple food for half of the world population. A japonica mutant 'Jiangtangdao 1' (RS = 11.67% was crossed with an indica cultivar 'Miyang 23' (RS = 0.41%. The mutant sbe3-rs that explained 60.4% of RS variation was mapped between RM6611 and RM13366 on chromosome 2 (LOD = 36 using 178 F(2 plants genotyped with 106 genome-wide polymorphic SSR markers. Using 656 plants from four F(3:4 families, sbe3-rs was fine mapped to a 573.3 Kb region between InDel 2 and InDel 6 using one STS, five SSRs and seven InDel markers. SBE3 which codes for starch branching enzyme was identified as a candidate gene within the putative region. Nine pairs of primers covering 22 exons were designed to sequence genomic DNA of the wild type for SBE3 and the mutant for sbe3-rs comparatively. Sequence analysis identified a missense mutation site where Leu-599 of the wild was changed to Pro-599 of the mutant in the SBE3 coding region. Because the point mutation resulted in the loss of a restriction enzyme site, sbe3-rs was not digested by a CAPS marker for SpeI site while SBE3 was. Co-segregation of the digestion pattern with RS content among 178 F(2 plants further supported sbe3-rs responsible for RS in rice. As a result, the CAPS marker could be used in marker-assisted breeding to develop rice cultivars with elevated RS which is otherwise difficult to accurately assess in crops. Transgenic technology should be employed for a definitive conclusion of the sbe3-rs.

  3. Methadone's effect on nAChRs--a link between methadone use and smoking?

    Science.gov (United States)

    Talka, Reeta; Tuominen, Raimo K; Salminen, Outi

    2015-10-15

    Methadone is a long-acting opioid agonist that is frequently prescribed as a treatment for opioid addiction. Almost all methadone maintenance patients are smokers, and there is a correlation between smoking habit and use of methadone. Methadone administration increases tobacco smoking, and heavy smokers use higher doses of methadone. Nevertheless, methadone maintenance patients are willing to quit smoking although their quit rates are low. Studies on nicotine-methadone interactions provide an example of the bedside-to-bench approach, i.e., observations in clinical settings have been studied experimentally in vivo and in vitro. In vivo studies have revealed the interplay between nicotine and the endogenous opioid system. At the receptor level, methadone has been shown to be an agonist of human α7 nAChRs and a non-competitive antagonist of human α4β2 and α3* nAChRs. These drugs do not have significant interactions at the level of drug metabolism, and thus the interaction is most likely pharmacodynamic. The net effect of the interaction may depend on individual characteristics because pharmacogenetic factors influence the disposition of both methadone and nicotine. Copyright © 2015 Elsevier Inc. All rights reserved.

  4. Assessment of possible association between rs378854 and prostate cancer risk in the Serbian population

    Directory of Open Access Journals (Sweden)

    Brajušković G.

    2013-01-01

    Full Text Available Prostate cancer (PCa is the second most commonly diagnosed cancer among men worldwide. Despite its high incidence rate, the molecular basis of PCa onset and its progression remains little understood. Genome-wide association studies (GWAS have greatly contributed to the identification of single nucleotide polymorphisms (SNP associated with PCa risk. Several GWAS identified 8q24 as one of the most significant PCa-associated regions. The aim of this study was to evaluate the association of SNP rs378854 at 8q24 with PCa risk in the Serbian population. The study population included 261 individuals diagnosed with PCa, 257 individuals diagnosed with benign prostatic hyperplasia (BPH and 106 healthy controls. Data quality analysis yielded results showing deviations from Hardy-Weinberg equilibrium in groups of PCa patients and BPH patients as well as in the control group. There was no significant association between alleles and genotypes of the genetic variant rs378854 and PCa risk in the Serbian population. [Projekat Ministarstva nauke Republike Srbije, br. 173016

  5. Utilization of Heavy Metal Molten Salts in the ARIES-RS Fusion Reactor

    Science.gov (United States)

    Übeyli, Mustafa; Yapıcı, Hüseyin

    2008-09-01

    ARIES-RS is one of the major magnetic fusion energy reactor designs that uses a blanket having vanadium alloy structure cooled by lithium [1, 2]. It is a deuterium-tritium (DT) fusion driven reactor, having a fusion power of 2170 MW [1, 2]. This study presents the neutronic analysis of the ARIES-RS fusion reactor using heavy metal molten salts in which Li2BeF4 as the main constituent was mixed with increased mole fractions of heavy metal salt (ThF4 or UF4) starting by 2 mol.% up to 12 mol.%. Neutron transport calculations were carried out with the help of the SCALE 4.3 system by solving the Boltzmann transport equation with the XSDRNPM code in 238 neutron groups and a S 8- P 3 approximation. According to the numerical results, tritium self-sufficiency was attained for the coolants, Flibe with 2% UF4 or ThF4 and 4% UF4. In addition, higher energy multiplication values were found for the salt with UF4 compared to that with ThF4. Furthermore, significant amount of high quality nuclear fuel was produced to be used in external reactors.

  6. CARNAVAL EM ANDAMENTO: HIBRIDISMO CULTURAL NO CONTEXTO CARNAVALESCO DE BAGÉ RS

    Directory of Open Access Journals (Sweden)

    Rafael Rosa da Silva

    2017-05-01

    Full Text Available Diversas são as discussões e os estudos em torno do carnaval no Brasil, talvez devido às diversas manifestações existentes nesse período e que variam de um estado para o outro, ou mesmo por ser um campo de estudo que traz em si uma pluralidade de aspectos que podem ser analisados em diversas áreas do conhecimento. A respeito do carnaval no Rio Grande Do Sul, existem poucos trabalhos, principalmente no que diz respeito ao carnaval interiorano. Sendo assim, este trabalho procura discutir acerca dos processos de transformação que o samba, na esfera do Bloco Burlesco Brasa Viva, vem sofrendo no carnaval de rua de Bagé RS. Trazer o samba como um processo em constante mudança não só na esfera carnavalesca, mas também no dia a dia de uma parcela da população brasileira é também poder entender um gênero musical que sofre um processo de hibridismo cultural. Trabalhando com bibliografias acerca da temática do carnaval, atrelada ao contexto de inserção do Bloco Burlesco Brasa Viva, percebemos que ao longo dos anos o samba foi sofrendo um processo hibridização, acompanhado por diversas transformações que acabaram padronizando o samba no carnaval de rua de Bagé RS.

  7. RS-1 enhances CRISPR/Cas9- and TALEN-mediated knock-in efficiency.

    Science.gov (United States)

    Song, Jun; Yang, Dongshan; Xu, Jie; Zhu, Tianqing; Chen, Y Eugene; Zhang, Jifeng

    2016-01-28

    Zinc-finger nuclease, transcription activator-like effector nuclease and CRISPR (clustered regularly interspaced short palindromic repeats)/Cas9 (CRISPR-associated protein 9) are becoming major tools for genome editing. Importantly, knock-in in several non-rodent species has been finally achieved thanks to these customizable nucleases; yet the rates remain to be further improved. We hypothesize that inhibiting non-homologous end joining (NHEJ) or enhancing homology-directed repair (HDR) will improve the nuclease-mediated knock-in efficiency. Here we show that the in vitro application of an HDR enhancer, RS-1, increases the knock-in efficiency by two- to five-fold at different loci, whereas NHEJ inhibitor SCR7 has minimal effects. We then apply RS-1 for animal production and have achieved multifold improvement on the knock-in rates as well. Our work presents tools to nuclease-mediated knock-in animal production, and sheds light on improving gene-targeting efficiencies on pluripotent stem cells.

  8. PERFIL HIGIÊNICO-SANITÁRIO DE QUINDINS COMERCIALIZADOS EM PELOTAS/RS

    Directory of Open Access Journals (Sweden)

    Graziele Guimarães GRANADA

    2009-07-01

    Full Text Available

    Foram coletadas 30 amostras de quindins e formadas amostras compostas, de modo que cada amostra representasse uma das 6 principais doçarias da cidade de Pelotas/RS. Avaliou-se a ocorrência de Salmonella spp, Estafilococos coagulase positiva, Bacillus cereus, coliformes a 45ºC e bolores e leveduras em amostras de quindim de docerias da cidade de Pelotas/RS. Foram avaliados, ainda, os valores de pH, sólidos solúveis e acidez. Os resultados foram compatíveis com as exigências microbiológicas da legislação vigente, no entanto, apresentaram expressiva contagem de bolores e leveduras, fato que compromete a qualidade dos produtos. Verificou-se a variação de 5,91 a 6,22; 66,0 a 73,0 e 0,97 a 2,90, de pH, sólidos solúveis e acidez, respectivamente, estando estes valores compatíveis com o esperado para os produtos em questão. PALAVRAS-CHAVE: Quindins; Estafilococos; Salmonella spp.; Bacilus cereus; coliformes; bolores e leveduras; características físico-químicas.

  9. Challenges and opportunities for the implementation of the Three Rs in Canadian vaccine quality control.

    Science.gov (United States)

    Long, Mara E; Griffin, Gilly

    2012-08-01

    A case-study approach was used to identify opportunities and challenges to the implementation of the Three Rs in vaccine testing in Canada. Data was obtained through interviews with 16 Canadian stakeholders involved in the production, testing and evaluation of vaccines. Participants identified inconsistent regulatory testing requirements, the lack of biological functionality of some in vitro methods, the benchmarking of in vitro against in vivo assays, and high caution towards method changes as major challenges to implementation. Opportunities to implementation were identified as the desire for and steps taken towards harmonization of test methods between countries, collaborations on new method development, the poor performance of traditional animal methods, the domino effect of one regulatory authority accepting a method after another, and stakeholder concerns for the ethical care and use of animals used in vaccine testing. These results suggest that industry and the Canadian government are open to implementing the Three Rs in vaccine quality control, but methods adopted must be reliable and biologically relevant. Improving the harmonization of regulatory requirements will assist in furthering the implementation of alternative methods. Copyright © 2012 Elsevier Inc. All rights reserved.

  10. Strategy of Making Hand Washing a Routine Habit: Principles of 5Es and 3Rs.

    Science.gov (United States)

    Kandel, N; Lamichane, J

    2016-01-01

    Regular hand washing habit has potential to reduce morbidity and mortality due to diseases and improves child development and reduces absenteeism of children, teachers and workforce. Improving hand washing behavior is more cost effective than improving clean water and sanitation infrastructure. There are numbers of initiatives and interventions in place, which have gained momentum with key messages of a call to action with increasing investment in schools, engaging policy makers and demonstration them with evidence. However, change in behavior as a routine habit has not reached to an optimum level and requires institutionalizing hand washing practices in schools, from schools and by schools and develop it as a curriculum. Therefore, we are purposing principles of 5Es and 3Rs - a strategy to make hand washing a routine habit. These 5E principles are: i) Embedding in a system, ii) Enabling Environment, iii) Eliminating Friction, iv) Encouraging all, and v) Establishing intervention and 3Rs are practicing them Religiously, Routinely and Repeatedly. Numbers of interventions have well demonstrated that hand hygiene educational interventions can help maintaining good practices. Finally, if schools and community start doing today, we can observe behavioral change practices for hand washing as a routine habit by at least 10 years after.

  11. SULF 1 gene polymorphism, rs6990375 is in significant association with fetus failure in IVF technique

    Directory of Open Access Journals (Sweden)

    Eskandar Taghizadeh

    2015-03-01

    Full Text Available Background: Sulfatase 1 (SULF1 function is to remove the 6-O-sulphate group from heparan sulfate. This action changes the binding sites of extracellular growth factors. SULF1 expression has been reported to be changed in angiogenesis. We hypothesized that single nucleotide polymorphisms (SNPs of SULF1 would impact clinicopathologic characteristics. Objective: Study of SULF1 gene polymorphism with fetus failure in in vitro fertilization (IVF technique. Materials and Methods: We studied one common (minor allele frequency >0.05 regulatory SNP, rs6990375, with polymerase chain reaction and restriction fragment length polymorphism method, in 53 infertile women with fetus failure in IVF technique and 53 women with at least one healthy child as controls. Results: We found that rs6990375 is significantly associated with an early failure in IVF and frequency of G allele is high in women with fetus failure in IVF technique (p<0.001. Conclusion: These findings suggest that SULF1genetic variations may play a role in IVF technique fetus failure. Further studies with large sample sizes on SULF1 SNPs may be useful in support of this claim.

  12. Advancing the 3Rs in regulatory ecotoxicology: A pragmatic cross-sector approach.

    Science.gov (United States)

    Burden, Natalie; Benstead, Rachel; Clook, Mark; Doyle, Ian; Edwards, Peter; Maynard, Samuel K; Ryder, Kathryn; Sheahan, Dave; Whale, Graham; van Egmond, Roger; Wheeler, James R; Hutchinson, Thomas H

    2016-07-01

    The ecotoxicity testing of chemicals for prospective environmental safety assessment is an area in which a high number of vertebrates are used across a variety of industry sectors. Refining, reducing, and replacing the use of animals such as fish, birds, and amphibians for this purpose addresses the ethical concerns and the increasing legislative requirements to consider alternative test methods. Members of the UK-based National Centre for the Replacement, Refinement and Reduction of Animals in Research (NC3Rs) Ecotoxicology Working Group, consisting of representatives from academia, government organizations, and industry, have worked together over the past 6 y to provide evidence bases to support and advance the application of the 3Rs in regulatory ecotoxicity testing. The group recently held a workshop to identify the areas of testing, demands, and drivers that will have an impact on the future of animal use in regulatory ecotoxicology. As a result of these discussions, we have developed a pragmatic approach to prioritize and realistically address key opportunity areas, to enable progress toward the vision of a reduced reliance on the use of animals in this area of testing. This paper summarizes the findings of this exercise and proposes a pragmatic strategy toward our key long-term goals-the incorporation of reliable alternatives to whole-organism testing into regulations and guidance, and a culture shift toward reduced reliance on vertebrate toxicity testing in routine environmental safety assessment. Integr Environ Assess Manag 2016;12:417-421. © 2015 SETAC. © 2015 SETAC.

  13. Wind Resource Assessment for High-Rise BIWT Using RS-NWP-CFD

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    Hyun-Goo Kim

    2016-12-01

    Full Text Available In this paper, a new wind resource assessment procedure for building-integrated wind turbines (BIWTs is proposed. The objective is to integrate wind turbines at a 555 m high-rise building to be constructed at the center of Seoul, Korea. Wind resource assessment at a high altitude was performed using ground-based remote sensing (RS; numerical weather prediction (NWP modeling that includes an urban canopy model was evaluated using the remote sensing measurements. Given the high correlation between the model and the measurements, we use the model to produce a long-term wind climate by correlating the model results with the measurements for the short period of the campaign. The wind flow over the high-rise building was simulated using computational fluid dynamics (CFD. The wind resource in Seoul—one of the metropolitan cities located inland and populated by a large number of skyscrapers—was very poor, which results in a wind turbine capacity factor of only 7%. A new standard procedure combining RS, NWP, and CFD is proposed for feasibility studies on high-rise BIWTs in the future.

  14. Association of SNP rs80659072 in the ZRS with polydactyly in Beijing You chickens.

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    Qin Chu

    Full Text Available The Beijing You chicken is a Chinese native breed with superior meat quality and a unique appearance. The G/T mutation of SNP rs80659072 in the Shh long-range regulator of GGA2 is highly associated with the polydactyly phenotype in some chicken breeds. In the present study, this SNP was genotyped using the TaqMan detection method, and its association with the number of toes was analyzed in a flock of 158 birds of the Beijing You population maintained at the Beijing Academy of Agriculture and Forestry Sciences. Furthermore, the skeletal structure of the digits was dissected and assembled in 113 birds. The findings revealed that the toes of Beijing You chickens were rich and more complex than expected. The plausible mutation rs80659072 in the zone of polarizing activity regulatory sequence (ZRS in chickens was an essential but not sufficient condition for polydactyly and polyphalangy in Beijing You chickens. Several individuals shared the T allele but showed normal four-digit conformations. However, breeding trials demonstrated that the T allele could serve as a strong genetic marker for five-toe selection in Beijing You chickens.

  15. DHPG activation of group 1 mGluRs in BLA enhances fear conditioning

    Science.gov (United States)

    Rudy, Jerry W.; Matus-Amat, Patricia

    2009-01-01

    Group 1 metabotropic glutamate receptors are known to play an important role in both synaptic plasticity and memory. We show that activating these receptors prior to fear conditioning by infusing the group 1 mGluR agonist, (R.S.)-3,5-dihydroxyphenylglycine (DHPG), into the basolateral region of the amygdala (BLA) of adult Sprague–Dawley rats enhances freezing normally supported by a weak footshock. This effect of DHPG was blocked when it was co-infused with either the general group 1 mGluR1 antagonist, (R,S)-1-aminoindan-1,5 dicarboxylic acid (AIDA), or with the selective mGluR5 antagonist, 2-methyl-6-(phenylethynyl)-pyridine (MPEP). These results support previous findings by Rodrigues and colleagues that mGluR5s in the lateral region of the amygdala make an import contribution to fear conditioning. More importantly, they support the general ideas embedded in the concept of metaplasticity, as per Abraham, and the synaptic-tagging hypothesis per Frey and Morris—that the processes that specify the content of experience can be experimentally separated from those needed to acquire the memory. PMID:19553379

  16. Crystallization of lysozyme with (R)-, (S)- and (RS)-2-methyl-2, 4-pentanediol

    Energy Technology Data Exchange (ETDEWEB)

    Stauber, Mark [Yeshiva University, 2495 Amsterdam Avenue, New York, NY 10033-3312 (United States); Yeshiva University, 2495 Amsterdam Avenue, New York, NY 10033-3312 (United States); Jakoncic, Jean [Brookhaven National Laboratory, Building 725D, Upton, NY 11973-5000 (United States); Berger, Jacob; Karp, Jerome M.; Axelbaum, Ariel; Sastow, Dahniel [Yeshiva University, 2495 Amsterdam Avenue, New York, NY 10033-3312 (United States); Yeshiva University, 2495 Amsterdam Avenue, New York, NY 10033-3312 (United States); Buldyrev, Sergey V. [Yeshiva University, 2495 Amsterdam Avenue, New York, NY 10033-3312 (United States); Hrnjez, Bruce J. [Collegiate School, 260 West 78th Street, New York, NY 10024-6559 (United States); Asherie, Neer, E-mail: asherie@yu.edu [Yeshiva University, 2495 Amsterdam Avenue, New York, NY 10033-3312 (United States); Yeshiva University, 2495 Amsterdam Avenue, New York, NY 10033-3312 (United States)

    2015-03-01

    Crystallization of lysozyme with (R)-2-methyl-2, 4-pentanediol produces more ordered crystals and a higher resolution protein structure than crystallization with (S)-2-methyl-2, 4-pentanediol. The results suggest that chiral interactions with chiral additives are important in protein crystal formation. Chiral control of crystallization has ample precedent in the small-molecule world, but relatively little is known about the role of chirality in protein crystallization. In this study, lysozyme was crystallized in the presence of the chiral additive 2-methyl-2, 4-pentanediol (MPD) separately using the R and S enantiomers as well as with a racemic RS mixture. Crystals grown with (R)-MPD had the most order and produced the highest resolution protein structures. This result is consistent with the observation that in the crystals grown with (R)-MPD and (RS)-MPD the crystal contacts are made by (R)-MPD, demonstrating that there is preferential interaction between lysozyme and this enantiomer. These findings suggest that chiral interactions are important in protein crystallization.

  17. NKAP is a novel RS-related protein that interacts with RNA and RNA binding proteins

    Science.gov (United States)

    Burgute, Bhagyashri D.; Peche, Vivek S.; Steckelberg, Anna-Lena; Glöckner, Gernot; Gaßen, Berthold; Gehring, Niels H.; Noegel, Angelika A.

    2014-01-01

    NKAP is a highly conserved protein with roles in transcriptional repression, T-cell development, maturation and acquisition of functional competency and maintenance and survival of adult hematopoietic stem cells. Here we report the novel role of NKAP in splicing. With NKAP-specific antibodies we found that NKAP localizes to nuclear speckles. NKAP has an RS motif at the N-terminus followed by a highly basic domain and a DUF 926 domain at the C-terminal region. Deletion analysis showed that the basic domain is important for speckle localization. In pull-down experiments, we identified RNA-binding proteins, RNA helicases and splicing factors as interaction partners of NKAP, among them FUS/TLS. The FUS/TLS–NKAP interaction takes place through the RS domain of NKAP and the RGG1 and RGG3 domains of FUS/TLS. We analyzed the ability of NKAP to interact with RNA using in vitro splicing assays and found that NKAP bound both spliced messenger RNA (mRNA) and unspliced pre-mRNA. Genome-wide analysis using crosslinking and immunoprecipitation-seq revealed NKAP association with U1, U4 and U5 small nuclear RNA, and we also demonstrated that knockdown of NKAP led to an increase in pre-mRNA percentage. Our results reveal NKAP as nuclear speckle protein with roles in RNA splicing and processing. PMID:24353314

  18. The Staphylococcus aureus ArlRS two-component system is a novel regulator of agglutination and pathogenesis.

    Science.gov (United States)

    Walker, Jennifer N; Crosby, Heidi A; Spaulding, Adam R; Salgado-Pabón, Wilmara; Malone, Cheryl L; Rosenthal, Carolyn B; Schlievert, Patrick M; Boyd, Jeffrey M; Horswill, Alexander R

    2013-01-01

    Staphylococcus aureus is a prominent bacterial pathogen that is known to agglutinate in the presence of human plasma to form stable clumps. There is increasing evidence that agglutination aids S. aureus pathogenesis, but the mechanisms of this process remain to be fully elucidated. To better define this process, we developed both tube based and flow cytometry methods to monitor clumping in the presence of extracellular matrix proteins. We discovered that the ArlRS two-component system regulates the agglutination mechanism during exposure to human plasma or fibrinogen. Using divergent S. aureus strains, we demonstrated that arlRS mutants are unable to agglutinate, and this phenotype can be complemented. We found that the ebh gene, encoding the Giant Staphylococcal Surface Protein (GSSP), was up-regulated in an arlRS mutant. By introducing an ebh complete deletion into an arlRS mutant, agglutination was restored. To assess whether GSSP is the primary effector, a constitutive promoter was inserted upstream of the ebh gene on the chromosome in a wildtype strain, which prevented clump formation and demonstrated that GSSP has a negative impact on the agglutination mechanism. Due to the parallels of agglutination with infective endocarditis development, we assessed the phenotype of an arlRS mutant in a rabbit combined model of sepsis and endocarditis. In this model the arlRS mutant displayed a large defect in vegetation formation and pathogenesis, and this phenotype was partially restored by removing GSSP. Altogether, we have discovered that the ArlRS system controls a novel mechanism through which S. aureus regulates agglutination and pathogenesis.

  19. A functional TNFAIP2 3'-UTR rs8126 genetic polymorphism contributes to risk of esophageal squamous cell carcinoma.

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    Jian Zhang

    Full Text Available BACKGROUND: Accumulated evidences demonstrated that single nucleotide polymorphisms (SNPs in mRNA 3'-untranslated region (3'-UTR may impact microRNAs (miRNAs-mediated expression regulation of oncogenes and tumor suppressors. There is a TNFAIP2 3'-UTR rs8126 T>C genetic variant which has been proved to be associated with head and neck cancer susceptibility. This SNP could disturb binding of miR-184 with TNFAIP2 mRNA and influence TNFAIP2 regulation. However, it is still unclear how this polymorphism is involved in development of esophageal squamous cell carcinoma (ESCC. Therefore, we hypothesized that the functional TNFAIP2 rs8126 SNP may affect TNFAIP2 expression and, thus, ESCC risk. METHODS: We investigated the association between the TNFAIP2 rs8126 variant and ESCC risk as well as the functional relevance on TNFAIP2 expression in vivo. Genotypes were determined in a case-control set consisted of 588 ESCC patients and 600 controls. The allele-specific regulation on TNFAIP2 expression by the rs8126 SNP was examined in normal and cancerous tissue specimens of esophagus. RESULTS: We found that individuals carrying the rs8126 CC or CT genotype had an OR of 1.89 (95%CI  = 1.23-2.85, P = 0.003 or 1.38 (95%CI  = 1.05-1.73, P = 0.017 for developing ESCC in Chinese compared with individual carrying the TT genotype. Carriers of the rs8126 CC and CT genotypes had significantly lower TNFAIP2 mRNA levels than those with the TT genotypes in normal esophagus tissues (P<0.05. CONCLUSIONS: Our data demonstrate that functional TNFAIP2 rs8126 genetic variant is a ESCC susceptibility SNP. These results support the hypothesis that genetic variants interrupting miRNA-mediated gene regulation might be important genetic modifiers of cancer risk.

  20. SNPSTR rs59186128_D7S820 polymorphism distribution in European Caucasoid, Hispanic, and Afro-American populations.

    Science.gov (United States)

    Odriozola, A; Aznar, J M; Valverde, L; Cardoso, S; Bravo, M L; Builes, J J; Martínez, B; Sanchez, D; González-Andrade, F; Sarasola, E; González-Fernández, M C; Martínez Jarreta, B; De Pancorbo, Marian M

    2009-11-01

    Single nucleotide polymorphisms (SNPs) in the flanking regions of microsatellite loci (SNPSTRs) help to increase the power of discrimination of short tandem repeat (STR) loci. SNPs are positions in the genome that have been well-conserved over the course of evolution, so analysing them can help distinguish between STR alleles in which the number of repetitions matches due to descent from those which match by chance. This provides support for the determination of biological paternity and other kinship analyses in which mutation needs to be ruled out as grounds for exclusion. Locus D7S820 shows a variable position, SNP rs59186128, in the 5' flanking region. This study is set out (1) to determine the frequencies of SNP rs59186128 in populations with various geographical origins and (2) to estimate the possible contribution of rs59186128 to the allele discrimination of locus D7S820. To that end, individuals from European Caucasoid, Hispanic, and Afro-American populations are studied using denaturing high-performance liquid chromatography, which enables locus rs59186128 to be quickly and highly cost-effectively screened. Moreover, a method is established for determining the haplotypes of SNPSTR rs59186128_D7820. The results show that SNP rs59186128 has a T allele frequency of more than 0.15 in one of the Afro-American populations studied, and the haplotype analysis shows that there is no preferential association between the alleles of SNPSTR rs59186128_D7S820, which supports the idea that they could be useful in forensic applications.

  1. Effect of resistant starch RS4 added to the high-fat diets on selected biochemical parameters in Wistar rats.

    Science.gov (United States)

    Bronkowska, Monika; Orzeł, Dagmara; Łoźna, Karolina; Styczyńska, Marzena; Biernat, Jadwiga; Gryszkin, Artur; Zieba, Tomasz; Kapelko, Małgorzata

    2013-01-01

    Resistant starch (RS) is part of potato starch that is not digested in the gastrointestinal tract. RS4 is a chemically modified starch (for example by oxidation and esterification) and physically (by heating). The study was aimed at determining the effect of resistant starch on lipid metabolism and activity of hepatic enzymes in Wistar strain rats fed high-fat diets containing 15% of lard or 15% of soybean oil. Four types of diets were administered to the animals (4 groups of males, n = 32): control diet (K1) containing 15% of soybean oil; control diet (K2) containing 15% of lard as well as two groups receiving the same diets with 10% addition of resistant starch RS4 (K1S and K2S). The mean concentration of total cholesterol was lower in the group of animals fed a diet with vegetable oil (39.9 mg/dl) as compared to that reported in the group of rats fed the lard-supplemented diet (55.2 mg/dl). Compared to the control groups in both groups of animals receiving the diet supplemented with resistant starch RS4 the total cholesterol concentration in serum decreased by ca. 25% (differences were statistically significant). In groups of rats receiving oil- or lard-containing diets with the addition of the resistant starch preparation the concentration of triglycerides in serum decreased by ca. 47% and 10%, respectively. A beneficial effect of the resistant starch RS4 added to Wistar rats diets on the lipid metabolism has been shown. The concentrations of total cholesterol and triglycerides in the serum were lower and concentration of HDL-cholesterol was higher in the rats fed with the diets containing the addition of the RS4 preparation as compared to the control groups. Based on the activity of hepatic enzymes the degree of liver damage was lower in groups of rats fed with diets containing resistant starch RS4 as compared to the control groups.

  2. IκBα polymorphism at promoter region (rs2233408 influences the susceptibility of gastric cancer in Chinese

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    Sung Joseph JY

    2010-02-01

    Full Text Available Abstract Background Nuclear factor of kappa B inhibitor alpha (IκBα protein is implicated in regulating a variety of cellular process from inflammation to tumorigenesis. The objective of this study was to investigate the susceptibility of rs2233408 T/C genotype in the promoter region of IκBα to gastric cancer and the association of this polymorphism with clinicopathologic variables in gastric cancer patients. Methods A population-based case-control study was conducted between 1999 and 2006 in Guangdong Province, China. A total of 564 gastric cancer patients and 566 healthy controls were enrolled in this study. rs2233408 genotypes in IκBα were analyzed by TaqMan SNP genotyping assay. Results Both rs2233408 T homozygote (TT and T heterozygotes (TC and TT had significantly reduced gastric cancer risk (TT: OR = 0.250, 95% CI = 0.069-0.909, P = 0.035; TC and TT: OR = 0.721, 95% CI = 0.530-0.981, P = 0.037, compared with rs2233408 C homozygote (CC. rs2233408 T heterozygotes were significantly associated with reduced risk of intestinal-type gastric cancer with ORs of 0.648 (95% CI = 0.459-0.916, P = 0.014, but not with the diffuse or mix type of gastric cancer. The association between rs2233408 T heterozygotes and gastric cancer appeared more apparent in the older patients (age>40 (OR = 0.674, 95% CI = 0.484-0.939, P = 0.02. rs2233408 T heterozygotes was associated with non-cardiac gastric cancer (OR = 0.594, 95% CI = 0.411-0.859, P = 0.006, but not with cardiac gastric cancer. However, rs2233408 polymorphism was not associated with the prognosis of gastric cancer patients. Conclusions IκBα rs2233408 T heterozygotes were associated with reduced risk of gastric cancer, especially for the development of certain subtypes of gastric cancer in Chinese population.

  3. Phytosociology and structure in a alluvial deciduous forest fragment in Santa Maria - RS = Fitossociologia e estrutura de um fragmento de Floresta Estacional Decidual Aluvial em Santa Maria - RS

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    Jonas Eduardo Bianchin

    2013-12-01

    Full Text Available The forest environments are profoundly altered, mainly due to human action. Specially the alluvial forests, which by its location and ecological function should be preserved and restored, for that it is essential to know the phytosociological and forest structure. The objective of this study was to evaluate the phytosociological parameters and structure of a fragment of Alluvial Deciduous Forest in Santa Maria, RS. For this, we measured 74 contiguous plots of 10 x 10 m (100 m², and considered all individuals with CBH greater than 10 cm. Thus, we identified 32 species, mostly pioneer species, from 19 families. The number of species sampled in the fragment was low, while the dead individuals showed relatively high amount, which is possibly due to human interventions in the area and the process of secondary succession. Some species, such as Casearia sylvestris, Symplocos uniflora, Mimosa bimucronata, Lithrea molleoides and Zanthoxylum rhoifollium stood out with higher rates of phytosociological parameters, with a predominance of the first two. Similarly, analysis of the Expanded Importance Value showed that C. sylvestris and S. uniflora are the most important species of the fragment, as they are more evenly distributed across all vertical strata. = As formações florestais encontram-se alteradas, sobretudo devido à ação antrópica. Principalmente as florestas aluviais, que por sua localização e função ecológica, devem ser preservadas e recuperadas, para isso é fundamental conhecer a fitossociologia e estrutura da floresta. Assim, objetivou-se com este trabalho avaliar os parâmetros fitossociológicos e estrutura de um fragmento de Floresta Estacional Decidual Aluvial em Santa Maria, RS. Para isso, foram mensuradas 74 parcelas contíguas de 10 x 10 m (100 m², e considerados todos os indivíduos com CAP maior que 10 cm. Foram identificadas 32 espécies, na sua grande maioria espécies pioneiras, pertencentes a 19 famílias botânicas. O

  4. Comportamento dos gastos em educação em Santa Maria – RS (2007-2011 / Behavior of education expenses in Santa Maria - RS (2007-2011

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    Flaviani Souto Bolzan Medeiros

    2013-05-01

    Full Text Available A educação de qualidade é um fator extremamente importante a ser considerado em todos os países que almejam uma sociedade mais justa e desenvolvida. No Brasil, os bens e serviços voltados à educação podem ser oferecidos tanto por entes públicos como privados. No caso dos entes públicos, a Constituição Federal de 1988 (CF/88 estabelece as responsabilidades de cada esfera de governo na prestação de serviços educacionais. Com base nesse contexto, este artigo tem como objetivo analisar o comportamento dos gastos com a função orçamentária voltada para a educação e manutenção e desenvolvimento do ensino (MDE do município de Santa Maria (RS, no período de 2007 a 2011. Para isso, utilizou-se a classificação funcional estabelecida pela Portaria nº 42/1999, do Ministério do Orçamento e Gestão, com a finalidade de acompanhar os gastos agregados em educação e o percentual das receitas aplicadas especificamente em MDE, conforme artigo 212, da CF/88 e Lei Orgânica do município. Como principais resultados, pode-se constatar o cumprimento da Lei Orgânica Municipal e do artigo 212, da CF/88, que prevê o investimento de, no mínimo 25% das receitas de impostos e transferências aplicadas na educação em MDE. No período analisado, o Índice de Desenvolvimento da Educação Básica (IDEB da 4ª e 8ª séries obteve um aumento de, aproximadamente, 17% e 13%, respectivamente, o que demonstra uma melhora na qualidade do Ensino Fundamental oferecido pela esfera municipal.The quality education is an extremely important factor to be considered in all countries who aspire to a more just and developed. In Brazil, the goods and services focused on education may be offered either by public or private. For public entities, the Federal Constitution of 1988 (CF/88 sets out the responsibilities of each level of government in the provision of educational services. Based on this context, this article aims to analyze the behavior of spending

  5. Disentangling Gratitude: A Theoretical and Psychometric Examination of the Gratitude Resentment and Appreciation Test-Revised Short (GRAT-RS).

    Science.gov (United States)

    Hammer, Joseph H; Brenner, Rachel E

    2017-07-14

    This study extended our theoretical and applied understanding of gratitude through a psychometric examination of the most popular multidimensional measure of gratitude, the Gratitude, Resentment, and Appreciation Test-Revised Short form (GRAT-RS). Namely, the dimensionality of the GRAT-RS, the model-based reliability of the GRAT-RS total score and 3 subscale scores, and the incremental evidence of validity for its latent factors were assessed. Dimensionality measures (e.g., explained common variance) and confirmatory factor analysis results with 426 community adults indicated that the GRAT-RS conformed to a multidimensional (bifactor) structure. Model-based reliability measures (e.g., omega hierarchical) provided support for the future use of the Lack of a Sense of Deprivation raw subscale score, but not for the raw GRAT-RS total score, Simple Appreciation subscale score, or Appreciation of Others subscale score. Structural equation modeling results indicated that only the general gratitude factor and the lack of a sense of deprivation specific factor accounted for significant variance in life satisfaction, positive affect, and distress. These findings support the 3 pillars of gratitude conceptualization of gratitude over competing conceptualizations, the position that the specific forms of gratitude are theoretically distinct, and the argument that appreciation is distinct from the superordinate construct of gratitude.

  6. MAPPING OF SPACIAL DISTRIBUTION AND THE ENVIRONMENTAL ZONING STONE-CUT’S EXTRACTION ON PARAÍ-RS, BRAzIL

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    Régis Pereira Waskow

    2015-03-01

    Full Text Available The mining activities have a large environmental influence on areas direct and indirectly affected by this activity. The Permanent Protection Areas (APPs noteworthy in terms of degradation from mine extraction. Among the acid rocks that compose the geology of Paraí-RS, the lower acid section shows horizontal structure failed where the rock slabs are extracted to produce stone-cut. Initially, the mining activity areas were bounded by Google Earth on Paraí-RS. After that, a new bound was proposed for the lower acid section. The APPs were bounded according to the National Forest Code of 2012. Finally, the zoning of the lower acid section was defined with feasible exploration, excluding the APPs overlapping the areas. The basalt mining activity represents about 1% of the territory of the Paraí-RS. Slightly more than half of this activity was in areas with Title Mining of National Department of Mineral Production (DNPM. Paraí-RS area is covered by 22% of APPs. Slightly more than 15 hectares of these areas were degraded by mining activities. The feasible areas for mining activities exploration represent about 13% of the Paraí-RS territory.

  7. Relationships between the ABO blood group SNP rs505922 and breast cancer phenotypes: a genotype-phenotype correlation study.

    Science.gov (United States)

    Rummel, Seth; Shriver, Craig D; Ellsworth, Rachel E

    2012-05-29

    To date, evaluation of the association of the ABO blood group and breast cancer has yielded mixed results. SNP rs505922, located within the first intron of the ABO gene, has been associated with the adenocarcinoma subtype of pancreatic cancer. To evaluate the association between genetic variation in the ABO blood group and risk of breast cancer, rs505922 was genotyped in 629 Caucasian women with invasive breast cancer, representing a variety of clinical and pathological tumor types. Genomic DNA was isolated from blood. TaqMan SNP assay C_2253769_10 was used to determine genotypes for each patient at rs505922. Statistical analysis was performed using chi-square analysis using a P-value breast cancer and published HapMap frequencies from women of European descent. Further stratification into different tumor phenotypes also failed to reveal an association between rs505922 and any clinical characteristics. Together, these data suggest that the minor allele of rs505922 and the resulting non-O blood types are not associated with increased risk or less favorable tumor characteristics or prognosis in breast cancer.

  8. Sex-specific association of ACAT-1 rs1044925 SNP and serum lipid levels in the hypercholesterolemic subjects.

    Science.gov (United States)

    Wu, Dong-Feng; Yin, Rui-Xing; Aung, Lynn Htet Htet; Li, Qing; Yan, Ting-Ting; Zeng, Xiao-Na; Huang, Ke-Ke; Huang, Ping; Wu, Jin-Zhen; Pan, Shang-Ling

    2012-01-13

    Acyl-CoA:cholesterol acyltransferase (ACAT) is a key enzyme in cellular cholesterol homeostasis and in atherosclerosis. The cellular cholesterol efflux correlated with serum high-density lipoprotein cholesterol (HDL-C) concentrations has shown to be impaired in hyperlipidemic mice. The present study was carried out to clarify the association of ACAT-1 rs1044925 single nucleotide polymorphism (SNP) and serum lipid levels in the hyperlipidemic subjects. A total of 821 unrelated subjects (hyperlipidemia, 476; normolipidemia, 345) aged 15-80 were included in the study. Genotyping of the ACAT-1 rs1044925 SNP was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing. There was no significant difference in the genotypic and allelic frequencies of ACAT-1 rs1044925 SNP between the normolipidemic and hyperlipidemic subjects. The levels of total cholesterol (TC), HDL-C and apolipoprotein (Apo) AI in hyperlipidemic subjects were different between the AA and AC/CC genotypes in male but not in female (P ACAT-1 rs1044925 SNP in male hyperlipidemic subjects had higher serum TC, HDL-C and ApoAI levels than the C allele noncarriers. There is a sex (male)-specific association of ACAT-1 rs1044925 SNP and serum HDL-C and ApoAI levels in the hypercholesterolemic subjects.

  9. Sex-specific association of ACAT-1 rs1044925 SNP and serum lipid levels in the hypercholesterolemic subjects

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    Wu Dong-Feng

    2012-01-01

    Full Text Available Abstract Background Acyl-CoA:cholesterol acyltransferase (ACAT is a key enzyme in cellular cholesterol homeostasis and in atherosclerosis. The cellular cholesterol efflux correlated with serum high-density lipoprotein cholesterol (HDL-C concentrations has shown to be impaired in hyperlipidemic mice. The present study was carried out to clarify the association of ACAT-1 rs1044925 single nucleotide polymorphism (SNP and serum lipid levels in the hyperlipidemic subjects. Methods A total of 821 unrelated subjects (hyperlipidemia, 476; normolipidemia, 345 aged 15-80 were included in the study. Genotyping of the ACAT-1 rs1044925 SNP was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing. Results There was no significant difference in the genotypic and allelic frequencies of ACAT-1 rs1044925 SNP between the normolipidemic and hyperlipidemic subjects. The levels of total cholesterol (TC, HDL-C and apolipoprotein (Apo AI in hyperlipidemic subjects were different between the AA and AC/CC genotypes in male but not in female (P Conclusions The present study shows that the C allele carriers of ACAT-1 rs1044925 SNP in male hyperlipidemic subjects had higher serum TC, HDL-C and ApoAI levels than the C allele noncarriers. There is a sex (male-specific association of ACAT-1 rs1044925 SNP and serum HDL-C and ApoAI levels in the hypercholesterolemic subjects.

  10. The apolipoprotein AII rs5082 variant is associated with reduced risk of coronary artery disease in an Australian male population.

    Science.gov (United States)

    Xiao, Jing; Zhang, Fan; Wiltshire, Steven; Hung, Joseph; Jennens, Michelle; Beilby, John P; Thompson, Peter L; McQuillan, Brendan M; McCaskie, Pamela A; Carter, Kim W; Palmer, Lyle J; Powell, Brenda L

    2008-08-01

    Serum high density lipoprotein (HDL) levels are inversely related to the development of coronary artery disease (CAD). Apolipoproteins AI and AII are the major protein constituents of HDL particles. APOAI and APOAII genetic polymorphisms have been proposed to affect transcriptional efficiency of their respective genes, thereby altering serum lipid levels and influencing atherosclerotic disease risk. 556 subjects with angiographically proven CAD (>50% stenosis) and 1109 randomly selected individuals from metropolitan Perth, Western Australia, were included in an association study. APOAI -75G/A (rs670) and APOAII -256T/C (rs5082) polymorphisms were both found to be not associated with plasma HDL levels. In a case-control analysis of 484 male CAD patients and 498 male controls, individuals carrying the 'CC' genotype for the APOAII rs5082 polymorphism had significantly lower risk of CAD than the 'T' allele carriers (OR=0.57, 95% CI 0.39-0.84, p=0.004). The minor 'A' allele of the APOAI rs670 polymorphism was found to be not associated with CAD, contrary to previous reports. We conclude that the APOAII rs5082 polymorphism appears to be cardioprotective in this representative Caucasian Australian population.

  11. Association between rs2981582 polymorphism in the FGFR2 gene and the risk of breast cancer in Mexican women

    Science.gov (United States)

    Murillo-Zamora, Efrén; Moreno-Macías, Hortensia; Ziv, Elad; Romieu, Isabelle; Lazcano-Ponce, Eduardo; Ángeles-Llerenas, Angélica; Pérez-Rodríguez, Edelmiro; Vidal-Millán, Silvia; Fejerman, Laura; Torres-Mejía, Gabriela

    2014-01-01

    Background and Aims The rs2981582 single nucleotide polymorphism in the Fibroblast Growth Factor Receptor 2 gene has been consistently associated with an increased risk of breast cancer. We evaluated the effect of rs2981582 polymorphism in the FGFR2 gene on the risk of breast cancer and its interaction with non-genetic risk factors. Methods A population based case control study was conducted in Mexico. Data from 687 cases and 907 controls were analyzed. Results The T allele of the rs2981582 polymorphism was associated with an increased risk of breast cancer (OR per allele =1.24, 95% CI 1.06 – 1.46). There was also an interaction between this polymorphism and alcohol consumption (p = 0.043); the effect of alcohol consumption on the risk of breast cancer varied according to the allelic variants of the rs2981582 polymorphism in the FGFR2 gene: OR = 3.97 (95% CI 2.10 – 7.49), OR = 2.01 (95% CI 1.23 − 3.29) and OR = 1.21 (95% CI 0.48 − 3.05) for genotypes CC, CT and TT, respectively. Conclusions This is the first study exploring the association between rs2981582 polymorphism in the FGFR2 gene and breast cancer risk in Mexican women. The interaction found may be of great public health interest, since alcohol consumption is a modifiable breast cancer risk factor. Therefore, replication of this finding is of foremost importance. PMID:24054997

  12. Interleukin-23 receptor polymorphism (rs10889677 A/C) in ankylosing spondylitis: Meta-analysis in Caucasian and Asian populations.

    Science.gov (United States)

    Han, Renfang; Xia, Qing; Xu, Shengqian; Fan, Dazhi; Pan, Faming

    2017-12-02

    The association between interleukin-23 receptor (IL23R) gene rs10889677 polymorphism and ankylosing spondylitis (AS) susceptibility was inconsistent in the recent literatures. A systematic review and meta-analysis was therefore performed. Online electronic databases were searched for relevant studies published up to November 2017. Meta-analyses were performed for the comparisons of allele (A versus C) and multiple genetic models, including dominant, recessive, heterozygous, and homozygous models using fixed or random effects models. Odds ratios (OR) with 95% confidence intervals (95%CI) were utilized to assess the potential relationship. Sixteen studies containing 19 separate comparisons, totaling 6450 cases and 8009 controls were included. A significant association between rs10889677 A allele and AS susceptibility was detected (OR=1.136, 95%CI=1.043-1.236, P=0.003). Stratified analysis by ethnicity indicated that rs10889677 A allele was significantly associated with AS in Europeans (OR=1.192, 95%CI=1.080-1.315, P<0.001), but not Asians (OR=1.045, 95%CI=0.913-1.197, P=0.523). In addition, there were no significant associations between rs10889677 polymorphism and AS susceptibility in any of dominant, recessive, homozygous and heterozygous models. This meta-analysis demonstrates that IL23R gene rs10889677 A allele confers increased risk of AS in Europeans, but its role in Asian populations needs further exploration. Copyright © 2017 Elsevier B.V. All rights reserved.

  13. Going up in Smoke? A Review of nAChRs-based Treatment Strategies for Improving Cognition in Schizophrenia

    Science.gov (United States)

    Boggs, Douglas L.; Carlson, Jon; Cortes-Briones, Jose; Krystal, John H.; D’Souza, D. Cyril

    2015-01-01

    Cognitive impairment is known to be a core deficit in schizophrenia. Existing treatments for schizophrenia have limited efficacy against cognitive impairment. The ubiquitous use of nicotine in this population is thought to reflect an attempt by patients to self-medicate certain symptoms associated with the illness. Concurrently there is evidence that nicotinic receptors that have lower affinity for nicotine are more important in cognition. Therefore, a number of medications that target nicotinic acetylcholine receptors (nAChRs) have been tested or are in development. In this article we summarize the clinical evidence of nAChRs dysfunction in schizophrenia and review clinical studies testing either nicotine or nicotinic medications for the treatment of cognitive impairment in schizophrenia. Some evidence suggests beneficial effects of nAChRs based treatments for the attentional deficits associated with schizophrenia. Standardized cognitive test batteries have failed to capture consistent improvements from drugs acting at nAChRs. However, more proximal measures of brain function, such as ERPs relevant to information processing impairments in schizophrenia, have shown some benefit. Further work is necessary to conclude that nAChRs based treatments are of clinical utility in the treatment of cognitive deficits of schizophrenia. PMID:24345265

  14. PECAM-1 gene polymorphism (rs668 and subclinical markers of carotid atherosclerosis in patients with type 2 diabetes mellitus

    Directory of Open Access Journals (Sweden)

    Popović D

    2016-06-01

    Full Text Available The platelet endothelial cell adhesion molecule 1 (PECAM-1 plays an important role in many inflammatory processes, including the development of atherosclerosis. Polymorphism rs668 of the PECAM-1 gene (373C/G is functional, and it was reported to be associated with increased serum levels of PECAM-1. We investigated the association between the rs668 polymorphism of PECAM-1 and subclinical markers of carotid atherosclerosis in subjects with type 2 diabetes mellitus (T2DM. Five hundred and ninety-five T2DM subjects and 200 control subjects were enrolled. The carotid intima-media thickness (CIMT and plaque characteristics (presence and structure were assessed ultrasonographically. Biochemical analyses were performed using standard biochemical methods. Geno-typing of the PECAM-1 gene polymorphism (rs668 was performed using KASPar assays. The control examinations were performed 3.8 ± 0.5 years after the initial examination. Higher CIMT was found in patients with T2DM in comparison with subjects without T2DM. Statistically sig-nificantly faster progression of the atherosclerotic markers was shown in subjects with T2DM in comparison with the control group. When adjusted to other risk factors, the rs668 GG genotype was associated with an increased risk of carotid plaques in subjects with T2DM. We concluded that our study demonstrated a minor effect of the rs668 PECAM-1 on markers of carotid atherosclerosis in subjects with T2DM.

  15. Residues Responsible for the Selectivity of α-Conotoxins for Ac-AChBP or nAChRs

    Directory of Open Access Journals (Sweden)

    Bo Lin

    2016-10-01

    Full Text Available Nicotinic acetylcholine receptors (nAChRs are targets for developing new drugs to treat severe pain, nicotine addiction, Alzheimer disease, epilepsy, etc. α-Conotoxins are biologically and chemically diverse. With 12–19 residues and two disulfides, they can be specifically selected for different nAChRs. Acetylcholine-binding proteins from Aplysia californica (Ac-AChBP are homologous to the ligand-binding domains of nAChRs and pharmacologically similar. X-ray structures of the α-conotoxin in complex with Ac-AChBP in addition to computer modeling have helped to determine the binding site of the important residues of α-conotoxin and its affinity for nAChR subtypes. Here, we present the various α-conotoxin residues that are selective for Ac-AChBP or nAChRs by comparing the structures of α-conotoxins in complex with Ac-AChBP and by modeling α-conotoxins in complex with nAChRs. The knowledge of these binding sites will assist in the discovery and design of more potent and selective α-conotoxins as drug leads.

  16. Common Genetic Variant of insig2 Gene rs7566605 Polymorphism Is Associated with Severe Obesity in North India

    Science.gov (United States)

    Prakash, Jai; Mittal, Balraj; Apurva, Srivastava; Shally, Awasthi; Pranjal, Srivastava; Neena, Srivastava

    2017-07-01

    Obesity is a very common disorder resulting from an imbalance between food intake and energy expenditure, and it has a substantial impact on the development of chronic diseases. The aim of this study was to examine the association of INSIG2 (rs7566605) gene polymorphism with obesity and obesity associated phenotypes in North Indian subjects. The variants were investigated for association in 642 obese and non-obese individuals. The genotyping of INSIG2 (rs7566605) single nucleotide polymorphism was analyzed by the TaqMan allelic discrimination protocol. A significant association was observed for INSIG2 (rs7566605) single nucleotide polymorphism with obesity and obesity-related phenotypes. Furthermore, a significant relationship was found between the rs7566605 and insulin, homeostasis model of assessment-insulin resistance, the percentage of body fat, fat mass, leptin, and adiponectin. The present study observed significant association between INSIG2 (rs7566605) single nucleotide polymorphism and obesity, as well as obesity-associated phenotypes in North Indian population.

  17. Association of ATP binding cassette transporter G8 rs4148217 SNP and serum lipid levels in Mulao and Han nationalities

    Directory of Open Access Journals (Sweden)

    Li Qing

    2012-05-01

    Full Text Available Abstract Background The association of ATP binding cassette transporter G8 gene (ABCG8 rs4148217 single nucleotide polymorphism (SNP and serum lipid profiles is still controversial in diverse racial/ethnic groups. Mulao nationality is an isolated minority in China. The aim of this study was to evaluate the association of ABCG8 rs4148217 SNP and several environmental factors with serum lipid levels in the Guangxi Mulao and Han populations. Methods A total of 634 subjects of Mulao nationality and 717 participants of Han nationality were randomly selected from our previous samples. Genotyping of the ABCG8 rs4148217 SNP was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing. Results The genotypic and allelic frequencies of ABCG8 rs4148217 SNP were different between the two nationalities (P P P P P P P  Conclusions The ABCG8 rs4148217 SNP is associated with serum TG, HDL-C and ApoA1 levels in our study populations, but this association is different between the Mulao and Han populations. There is a sex (female-specific association in both ethnic groups.

  18. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

    Science.gov (United States)

    Hollestelle, Antoinette; van der Baan, Frederieke H.; Berchuck, Andrew; Johnatty, Sharon E.; Aben, Katja K.; Agnarsson, Bjarni A.; Aittomäki, Kristiina; Alducci, Elisa; Andrulis, Irene L.; Anton-Culver, Hoda; Antonenkova, Natalia N.; Antoniou, Antonis C.; Apicella, Carmel; Arndt, Volker; Arnold, Norbert; Arun, Banu K.; Arver, Brita; Ashworth, Alan; Baglietto, Laura; Balleine, Rosemary; Bandera, Elisa V.; Barrowdale, Daniel; Bean, Yukie T.; Beckmann, Lars; Beckmann, Matthias W.; Benitez, Javier; Berger, Andreas; Berger, Raanan; Beuselinck, Benoit; Bisogna, Maria; Bjorge, Line; Blomqvist, Carl; Bogdanova, Natalia V.; Bojesen, Anders; Bojesen, Stig E.; Bolla, Manjeet K.; Bonanni, Bernardo; Brand, Judith S.; Brauch, Hiltrud; Brenner, Hermann; Brinton, Louise; Brooks-Wilson, Angela; Bruinsma, Fiona; Brunet, Joan; Brüning, Thomas; Budzilowska, Agnieszka; Bunker, Clareann H.; Burwinkel, Barbara; Butzow, Ralf; Buys, Saundra S.; Caligo, Maria A.; Campbell, Ian; Carter, Jonathan; Chang-Claude, Jenny; Chanock, Stephen J.; Claes, Kathleen B.M.; Collée, J. Margriet; Cook, Linda S.; Couch, Fergus J.; Cox, Angela; Cramer, Daniel; Cross, Simon S.; Cunningham, Julie M.; Cybulski, Cezary; Czene, Kamila; Damiola, Francesca; Dansonka-Mieszkowska, Agnieszka; Darabi, Hatef; de la Hoya, Miguel; deFazio, Anna; Dennis, Joseph; Devilee, Peter; Dicks, Ed M.; Diez, Orland; Doherty, Jennifer A.; Domchek, Susan M.; Dorfling, Cecilia M.; Dörk, Thilo; Santos Silva, Isabel Dos; du Bois, Andreas; Dumont, Martine; Dunning, Alison M.; Duran, Mercedes; Easton, Douglas F.; Eccles, Diana; Edwards, Robert P.; Ehrencrona, Hans; Ejlertsen, Bent; Ekici, Arif B.; Ellis, Steve D.; Engel, Christoph; Eriksson, Mikael; Fasching, Peter A.; Feliubadalo, Lidia; Figueroa, Jonine; Flesch-Janys, Dieter; Fletcher, Olivia; Fontaine, Annette; Fortuzzi, Stefano; Fostira, Florentia; Fridley, Brooke L.; Friebel, Tara; Friedman, Eitan; Friel, Grace; Frost, Debra; Garber, Judy; García-Closas, Montserrat; Gayther, Simon A.; Gentry-Maharaj, Aleksandra; Gerdes, Anne-Marie; Giles, Graham G.; Glasspool, Rosalind; Glendon, Gord; Godwin, Andrew K.; Goodman, Marc T.; Gore, Martin; Greene, Mark H.; Grip, Mervi; Gronwald, Jacek; Kaulich, Daphne Gschwantler; Guénel, Pascal; Guzman, Starr R.; Haeberle, Lothar; Haiman, Christopher A.; Hall, Per; Halverson, Sandra L.; Hamann, Ute; Hansen, Thomas V.O.; Harter, Philipp; Hartikainen, Jaana M.; Healey, Sue; Hein, Alexander; Heitz, Florian; Henderson, Brian E.; Herzog, Josef; Hildebrandt, Michelle A. T.; Høgdall, Claus K.; Høgdall, Estrid; Hogervorst, Frans B.L.; Hopper, John L.; Humphreys, Keith; Huzarski, Tomasz; Imyanitov, Evgeny N.; Isaacs, Claudine; Jakubowska, Anna; Janavicius, Ramunas; Jaworska, Katarzyna; Jensen, Allan; Jensen, Uffe Birk; Johnson, Nichola; Jukkola-Vuorinen, Arja; Kabisch, Maria; Karlan, Beth Y.; Kataja, Vesa; Kauff, Noah; Kelemen, Linda E.; Kerin, Michael J.; Kiemeney, Lambertus A.; Kjaer, Susanne K.; Knight, Julia A.; Knol-Bout, Jacoba P.; Konstantopoulou, Irene; Kosma, Veli-Matti; Krakstad, Camilla; Kristensen, Vessela; Kuchenbaecker, Karoline B.; Kupryjanczyk, Jolanta; Laitman, Yael; Lambrechts, Diether; Lambrechts, Sandrina; Larson, Melissa C.; Lasa, Aadriana; Laurent-Puig, Pierre; Lazaro, Conxi; Le, Nhu D.; Le Marchand, Loic; Leminen, Arto; Lester, Jenny; Levine, Douglas A.; Li, Jingmei; Liang, Dong; Lindblom, Annika; Lindor, Noralane; Lissowska, Jolanta; Long, Jirong; Lu, Karen H.; Lubinski, Jan; Lundvall, Lene; Lurie, Galina; Mai, Phuong L.; Mannermaa, Arto; Margolin, Sara; Mariette, Frederique; Marme, Frederik; Martens, John W.M.; Massuger, Leon F.A.G.; Maugard, Christine; Mazoyer, Sylvie; McGuffog, Lesley; McGuire, Valerie; McLean, Catriona; McNeish, Iain; Meindl, Alfons; Menegaux, Florence; Menéndez, Primitiva; Menkiszak, Janusz; Menon, Usha; Mensenkamp, Arjen R.; Miller, Nicola; Milne, Roger L.; Modugno, Francesmary; Montagna, Marco; Moysich, Kirsten B.; Müller, Heiko; Mulligan, Anna Marie; Muranen, Taru A.; Narod, Steven A.; Nathanson, Katherine L.; Ness, Roberta B.; Neuhausen, Susan L.; Nevanlinna, Heli; Neven, Patrick; Nielsen, Finn C.; Nielsen, Sune F.; Nordestgaard, Børge G.; Nussbaum, Robert L.; Odunsi, Kunle; Offit, Kenneth; Olah, Edith; Olopade, Olufunmilayo I.; Olson, Janet E.; Olson, Sara H.; Oosterwijk, Jan C.; Orlow, Irene; Orr, Nick; Orsulic, Sandra; Osorio, Ana; Ottini, Laura; Paul, James; Pearce, Celeste L.; Pedersen, Inge Sokilde; Peissel, Bernard; Pejovic, Tanja; Pelttari, Liisa M.; Perkins, Jo; Permuth-Wey, Jenny; Peterlongo, Paolo; Peto, Julian; Phelan, Catherine M.; Phillips, Kelly-Anne; Piedmonte, Marion; Pike, Malcolm C.; Platte, Radka; Plisiecka-Halasa, Joanna; Poole, Elizabeth M.; Poppe, Bruce; Pylkäs, Katri; Radice, Paolo; Ramus, Susan J.; Rebbeck, Timothy R.; Reed, Malcolm W.R.; Rennert, Gad; Risch, Harvey A.; Robson, Mark; Rodriguez, Gustavo C.; Romero, Atocha; Rossing, Mary Anne; Rothstein, Joseph H.; Rudolph, Anja; Runnebaum, Ingo; Salani, Ritu; Salvesen, Helga B.; Sawyer, Elinor J.; Schildkraut, Joellen M.; Schmidt, Marjanka K.; Schmutzler, Rita K.; Schneeweiss, Andreas; Schoemaker, Minouk J.; Schrauder, Michael G.; Schumacher, Fredrick; Schwaab, Ira; Scuvera, Giulietta; Sellers, Thomas A.; Severi, Gianluca; Seynaeve, Caroline M.; Shah, Mitul; Shrubsole, Martha; Siddiqui, Nadeem; Sieh, Weiva; Simard, Jacques; Singer, Christian F.; Sinilnikova, Olga M.; Smeets, Dominiek; Sohn, Christof; Soller, Maria; Song, Honglin; Soucy, Penny; Southey, Melissa C.; Stegmaier, Christa; Stoppa-Lyonnet, Dominique; Sucheston, Lara; Swerdlow, Anthony; Tangen, Ingvild L.; Tea, Muy-Kheng; Teixeira, Manuel R.; Terry, Kathryn L.; Terry, Mary Beth; Thomassen, Madas; Thompson, Pamela J.; Tihomirova, Laima; Tischkowitz, Marc; Toland, Amanda Ewart; Tollenaar, Rob A.E.M.; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; Tsimiklis, Helen; Tung, Nadine; Tworoger, Shelley S.; Tyrer, Jonathan P.; Vachon, Celine M.; Van 't Veer, Laura J.; van Altena, Anne M.; Van Asperen, C.J.; van den Berg, David; van den Ouweland, Ans M.W.; van Doorn, Helena C.; Van Nieuwenhuysen, Els; van Rensburg, Elizabeth J.; Vergote, Ignace; Verhoef, Senno; Vierkant, Robert A.; Vijai, Joseph; Vitonis, Allison F.; von Wachenfeldt, Anna; Walsh, Christine; Wang, Qin; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Weischer, Maren; Weitzel, Jeffrey N.; Weltens, Caroline; Wentzensen, Nicolas; Whittemore, Alice S.; Wilkens, Lynne R.; Winqvist, Robert; Wu, Anna H.; Wu, Xifeng; Yang, Hannah P.; Zaffaroni, Daniela; Zamora, M. Pilar; Zheng, Wei; Ziogas, Argyrios; Chenevix-Trench, Georgia; Pharoah, Paul D.P.; Rookus, Matti A.; Hooning, Maartje J.; Goode, Ellen L.

    2015-01-01

    Objective Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3′ UTR microRNA binding site, based on suggested associations with increased ovarian and breast cancer risk as well as with survival time. However, prior studies, emphasizing particular subgroups, were relatively small. Therefore, we comprehensively evaluated ovarian and breast cancer risks as well as clinical outcome associated with rs61764370. Methods Centralized genotyping and analysis were performed for 140,012 women enrolled in the Ovarian Cancer Association Consortium (15,357 ovarian cancer patients; 30,816 controls), the Breast Cancer Association Consortium (33,530 breast cancer patients; 37,640 controls), and the Consortium of Modifiers of BRCA1 and BRCA2 (14,765 BRCA1 and 7904 BRCA2 mutation carriers). Results We found no association with risk of ovarian cancer (OR= 0.99, 95% CI 0.94–1.04,p = 0.74) or breast cancer (OR = 0.98, 95% CI 0.94–1.01, p = 0.19) and results were consistent among mutation carriers (BRCA1, ovarian cancer HR = 1.09, 95% CI 0.97–1.23, p = 0.14, breast cancer HR = 1.04, 95% CI 0.97–1.12, p = 0.27; BRCA2, ovarian cancer HR = 0.89, 95% CI 0.71–1.13, p = 0.34, breast cancer HR = 1.06, 95% CI 0.94–1.19, p = 0.35). Null results were also obtained for associations with overall survival following ovarian cancer (HR = 0.94, 95% CI 0.83–1.07, p = 0.38), breast cancer (HR = 0.96, 95% CI 0.87–1.06, p = 0.38), and all other previously-reported associations. Conclusions rs61764370 is not associated with risk of ovarian or breast cancer nor with clinical outcome for patients with these cancers. Therefore, genotyping this variant has no clinical utility related to the prediction or management of these cancers. PMID:25940428

  19. Conceptual optical design and system engineering of the CLARREO/RS (reflected solar) instrument suite

    Science.gov (United States)

    Thompson, Patrick L.; Hill, Peter C.

    2012-09-01

    The Climate Absolute Radiance and Refractivity Observatory (CLARREO) program objectives are recommended by the NRC as a Tier-1 mission in its January 15, 2007 Earth Science Decadal Survey to be the key component of a future decade-scale, global climate change observing system. The purpose of CLARREO is to make SI-traceable absolute observations sensitive to the most critical, but least understood climate forcing phenomena, responses, and feedbacks. NASA / LaRC is the mission lead as well as the Infrared (IR) instrument suite development lead. The Reflected Solar (RS) instrument lead center has been assigned to GSFC where engineering risk reduction and science calibration demonstration studies are being conducted on flight-like ETUs in anticipation of entry into Phase A. The RS instrument suite (SOLARIS) is composed of multiple all-aluminum, slit-based, push-broom imaging spectroradiometers of nearly identical construction. Each 'box' will be optimized to provide better than 8nm spectral resolution (using multiple detector elements) over a specific spectral band covering the 320-2300nm total range with significant overlaps to aid calibration. Optical design, fabrication, and alignment will provide for 500m nadir resolutions over a full slit field of 100km from an approximately 600km polar orbit greater than 90% of the time. SNRs are likewise required to exceed 33 for λ board GPS radio occultation receivers and inherent inter-calibration compatibility with existing and future Earth science and operational missions, these measurements will provide a long-term benchmarking data record for the detection, projection, and attribution of changes to our planet's climate system. The CLARREO Project team successfully completed its Mission Concept Review (MCR) on November 17, 2010 at LaRC with high marks and remains dedicated to the mission and its instruments. However, the launch readiness date (LRD) is yet to be determined pending budget directive updates from the White

  20. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

    Science.gov (United States)

    Hollestelle, Antoinette; van der Baan, Frederieke H; Berchuck, Andrew; Johnatty, Sharon E; Aben, Katja K; Agnarsson, Bjarni A; Aittomäki, Kristiina; Alducci, Elisa; Andrulis, Irene L; Anton-Culver, Hoda; Antonenkova, Natalia N; Antoniou, Antonis C; Apicella, Carmel; Arndt, Volker; Arnold, Norbert; Arun, Banu K; Arver, Brita; Ashworth, Alan; Baglietto, Laura; Balleine, Rosemary; Bandera, Elisa V; Barrowdale, Daniel; Bean, Yukie T; Beckmann, Lars; Beckmann, Matthias W; Benitez, Javier; Berger, Andreas; Berger, Raanan; Beuselinck, Benoit; Bisogna, Maria; Bjorge, Line; Blomqvist, Carl; Bogdanova, Natalia V; Bojesen, Anders; Bojesen, Stig E; Bolla, Manjeet K; Bonanni, Bernardo; Brand, Judith S; Brauch, Hiltrud; Brenner, Hermann; Brinton, Louise; Brooks-Wilson, Angela; Bruinsma, Fiona; Brunet, Joan; Brüning, Thomas; Budzilowska, Agnieszka; Bunker, Clareann H; Burwinkel, Barbara; Butzow, Ralf; Buys, Saundra S; Caligo, Maria A; Campbell, Ian; Carter, Jonathan; Chang-Claude, Jenny; Chanock, Stephen J; Claes, Kathleen B M; Collée, J Margriet; Cook, Linda S; Couch, Fergus J; Cox, Angela; Cramer, Daniel; Cross, Simon S; Cunningham, Julie M; Cybulski, Cezary; Czene, Kamila; Damiola, Francesca; Dansonka-Mieszkowska, Agnieszka; Darabi, Hatef; de la Hoya, Miguel; deFazio, Anna; Dennis, Joseph; Devilee, Peter; Dicks, Ed M; Diez, Orland; Doherty, Jennifer A; Domchek, Susan M; Dorfling, Cecilia M; Dörk, Thilo; Silva, Isabel Dos Santos; du Bois, Andreas; Dumont, Martine; Dunning, Alison M; Duran, Mercedes; Easton, Douglas F; Eccles, Diana; Edwards, Robert P; Ehrencrona, Hans; Ejlertsen, Bent; Ekici, Arif B; Ellis, Steve D; Engel, Christoph; Eriksson, Mikael; Fasching, Peter A; Feliubadalo, Lidia; Figueroa, Jonine; Flesch-Janys, Dieter; Fletcher, Olivia; Fontaine, Annette; Fortuzzi, Stefano; Fostira, Florentia; Fridley, Brooke L; Friebel, Tara; Friedman, Eitan; Friel, Grace; Frost, Debra; Garber, Judy; García-Closas, Montserrat; Gayther, Simon A; Gentry-Maharaj, Aleksandra; Gerdes, Anne-Marie; Giles, Graham G; Glasspool, Rosalind; Glendon, Gord; Godwin, Andrew K; Goodman, Marc T; Gore, Martin; Greene, Mark H; Grip, Mervi; Gronwald, Jacek; Gschwantler Kaulich, Daphne; Guénel, Pascal; Guzman, Starr R; Haeberle, Lothar; Haiman, Christopher A; Hall, Per; Halverson, Sandra L; Hamann, Ute; Hansen, Thomas V O; Harter, Philipp; Hartikainen, Jaana M; Healey, Sue; Hein, Alexander; Heitz, Florian; Henderson, Brian E; Herzog, Josef; T Hildebrandt, Michelle A; Høgdall, Claus K; Høgdall, Estrid; Hogervorst, Frans B L; Hopper, John L; Humphreys, Keith; Huzarski, Tomasz; Imyanitov, Evgeny N; Isaacs, Claudine; Jakubowska, Anna; Janavicius, Ramunas; Jaworska, Katarzyna; Jensen, Allan; Jensen, Uffe Birk; Johnson, Nichola; Jukkola-Vuorinen, Arja; Kabisch, Maria; Karlan, Beth Y; Kataja, Vesa; Kauff, Noah; Kelemen, Linda E; Kerin, Michael J; Kiemeney, Lambertus A; Kjaer, Susanne K; Knight, Julia A; Knol-Bout, Jacoba P; Konstantopoulou, Irene; Kosma, Veli-Matti; Krakstad, Camilla; Kristensen, Vessela; Kuchenbaecker, Karoline B; Kupryjanczyk, Jolanta; Laitman, Yael; Lambrechts, Diether; Lambrechts, Sandrina; Larson, Melissa C; Lasa, Adriana; Laurent-Puig, Pierre; Lazaro, Conxi; Le, Nhu D; Le Marchand, Loic; Leminen, Arto; Lester, Jenny; Levine, Douglas A; Li, Jingmei; Liang, Dong; Lindblom, Annika; Lindor, Noralane; Lissowska, Jolanta; Long, Jirong; Lu, Karen H; Lubinski, Jan; Lundvall, Lene; Lurie, Galina; Mai, Phuong L; Mannermaa, Arto; Margolin, Sara; Mariette, Frederique; Marme, Frederik; Martens, John W M; Massuger, Leon F A G; Maugard, Christine; Mazoyer, Sylvie; McGuffog, Lesley; McGuire, Valerie; McLean, Catriona; McNeish, Iain; Meindl, Alfons; Menegaux, Florence; Menéndez, Primitiva; Menkiszak, Janusz; Menon, Usha; Mensenkamp, Arjen R; Miller, Nicola; Milne, Roger L; Modugno, Francesmary; Montagna, Marco; Moysich, Kirsten B; Müller, Heiko; Mulligan, Anna Marie; Muranen, Taru A; Narod, Steven A; Nathanson, Katherine L; Ness, Roberta B; Neuhausen, Susan L; Nevanlinna, Heli; Neven, Patrick; Nielsen, Finn C; Nielsen, Sune F; Nordestgaard, Børge G; Nussbaum, Robert L; Odunsi, Kunle; Offit, Kenneth; Olah, Edith; Olopade, Olufunmilayo I; Olson, Janet E; Olson, Sara H; Oosterwijk, Jan C; Orlow, Irene; Orr, Nick; Orsulic, Sandra; Osorio, Ana; Ottini, Laura; Paul, James; Pearce, Celeste L; Pedersen, Inge Sokilde; Peissel, Bernard; Pejovic, Tanja; Pelttari, Liisa M; Perkins, Jo; Permuth-Wey, Jenny; Peterlongo, Paolo; Peto, Julian; Phelan, Catherine M; Phillips, Kelly-Anne; Piedmonte, Marion; Pike, Malcolm C; Platte, Radka; Plisiecka-Halasa, Joanna; Poole, Elizabeth M; Poppe, Bruce; Pylkäs, Katri; Radice, Paolo; Ramus, Susan J; Rebbeck, Timothy R; Reed, Malcolm W R; Rennert, Gad; Risch, Harvey A; Robson, Mark; Rodriguez, Gustavo C; Romero, Atocha; Rossing, Mary Anne; Rothstein, Joseph H; Rudolph, Anja; Runnebaum, Ingo; Salani, Ritu; Salvesen, Helga B; Sawyer, Elinor J; Schildkraut, Joellen M; Schmidt, Marjanka K; Schmutzler, Rita K; Schneeweiss, Andreas; Schoemaker, Minouk J; Schrauder, Michael G; Schumacher, Fredrick; Schwaab, Ira; Scuvera, Giulietta; Sellers, Thomas A; Severi, Gianluca; Seynaeve, Caroline M; Shah, Mitul; Shrubsole, Martha; Siddiqui, Nadeem; Sieh, Weiva; Simard, Jacques; Singer, Christian F; Sinilnikova, Olga M; Smeets, Dominiek; Sohn, Christof; Soller, Maria; Song, Honglin; Soucy, Penny; Southey, Melissa C; Stegmaier, Christa; Stoppa-Lyonnet, Dominique; Sucheston, Lara; Swerdlow, Anthony; Tangen, Ingvild L; Tea, Muy-Kheng; Teixeira, Manuel R; Terry, Kathryn L; Terry, Mary Beth; Thomassen, Mads; Thompson, Pamela J; Tihomirova, Laima; Tischkowitz, Marc; Toland, Amanda Ewart; Tollenaar, Rob A E M; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; Tsimiklis, Helen; Tung, Nadine; Tworoger, Shelley S; Tyrer, Jonathan P; Vachon, Celine M; Van 't Veer, Laura J; van Altena, Anne M; Van Asperen, C J; van den Berg, David; van den Ouweland, Ans M W; van Doorn, Helena C; Van Nieuwenhuysen, Els; van Rensburg, Elizabeth J; Vergote, Ignace; Verhoef, Senno; Vierkant, Robert A; Vijai, Joseph; Vitonis, Allison F; von Wachenfeldt, Anna; Walsh, Christine; Wang, Qin; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Weischer, Maren; Weitzel, Jeffrey N; Weltens, Caroline; Wentzensen, Nicolas; Whittemore, Alice S; Wilkens, Lynne R; Winqvist, Robert; Wu, Anna H; Wu, Xifeng; Yang, Hannah P; Zaffaroni, Daniela; Pilar Zamora, M; Zheng, Wei; Ziogas, Argyrios; Chenevix-Trench, Georgia; Pharoah, Paul D P; Rookus, Matti A; Hooning, Maartje J; Goode, Ellen L

    2016-05-01

    Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3' UTR microRNA binding site, based on suggested associations with increased ovarian and breast cancer risk as well as with survival time. However, prior studies, emphasizing particular subgroups, were relatively small. Therefore, we comprehensively evaluated ovarian and breast cancer risks as well as clinical outcome associated with rs61764370. Centralized genotyping and analysis were performed for 140,012 women enrolled in the Ovarian Cancer Association Consortium (15,357 ovarian cancer patients; 30,816 controls), the Breast Cancer Association Consortium (33,530 breast cancer patients; 37,640 controls), and the Consortium of Modifiers of BRCA1 and BRCA2 (14,765 BRCA1 and 7904 BRCA2 mutation carriers). We found no association with risk of ovarian cancer (OR=0.99, 95% CI 0.94-1.04, p=0.74) or breast cancer (OR=0.98, 95% CI 0.94-1.01, p=0.19) and results were consistent among mutation carriers (BRCA1, ovarian cancer HR=1.09, 95% CI 0.97-1.23, p=0.14, breast cancer HR=1.04, 95% CI 0.97-1.12, p=0.27; BRCA2, ovarian cancer HR=0.89, 95% CI 0.71-1.13, p=0.34, breast cancer HR=1.06, 95% CI 0.94-1.19, p=0.35). Null results were also obtained for associations with overall survival following ovarian cancer (HR=0.94, 95% CI 0.83-1.07, p=0.38), breast cancer (HR=0.96, 95% CI 0.87-1.06, p=0.38), and all other previously-reported associations. rs61764370 is not associated with risk of ovarian or breast cancer nor with clinical outcome for patients with these cancers. Therefore, genotyping this variant has no clinical utility related to the prediction or management of these cancers. Copyright © 2015 Elsevier Inc. All rights reserved.

  1. The Late-Type Extension to MoVeRS (LaTE-MoVeRS): Proper Motion Verified Low-mass Stars and Brown Dwarfs from SDSS, 2MASS, and WISE

    Science.gov (United States)

    Theissen, Christopher A.; West, Andrew A.; Shippee, Guillaume; Burgasser, Adam J.; Schmidt, Sarah J.

    2017-03-01

    We present the Late-Type Extension to the Motion Verified Red Stars (LaTE-MoVeRS) catalog, containing 46,463 photometric late-type (>M5) dwarfs within the Sloan Digital Sky Survey (SDSS) footprint. Proper motions were computed for objects combining astrometry from the SDSS Data Release 12 (DR12), the Two-micron All-Sky Survey (2MASS) Point Source Catalog, and the Wide-field Infrared Survey Explorer (WISE) AllWISE data sets. LaTE-MoVeRS objects were required to have significant proper motion ({μ }{tot}≥slant 2{σ }{μ {tot}}). Using the LaTE-MoVeRS sample and Gaia Data Release 1, we estimate Gaia will be ˜64% complete for very low-mass objects (>M5) in comparison to the combined SDSS+2MASS+WISE data set (i< 21.3). We computed photometric distances and estimated stellar effective temperatures for the LaTE-MoVeRS catalog. The majority of the dwarfs in the sample have distances < 150 pc and {T}{eff}< 3000 K. Thirteen objects that have not been previously identified as nearby objects were identified within LaTE-MoVeRS with estimated photometric distances within 25 pc. We also identified one new object that has not been previously identified with a large amount of excess mid-infrared flux (2MASS J11151597+1937266). This object appears to be an L2γ at ˜50 pc showing spectroscopic signs of a flaring event (e.g., strong hydrogen Balmer emission lines). This object does not exhibit kinematics similar to any known kinematic association. The LaTE-MoVeRS catalog is available through SDSS CasJobs and VizieR.

  2. Lack of association between vitamin D receptor polymorphisms ApaI (rs7975232 and BsmI (rs1544410 and osteoporosis among the Han Chinese population: A meta-analysis

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    Meng Yu

    2016-12-01

    Full Text Available In this study, we aimed to assess the relationship between vitamin D receptor gene polymorphisms and osteoporosis in the Han Chinese population. Articles regarding associations between vitamin D receptor polymorphisms (ApaI rs7975232 and BsmI rs1544410 and osteoporosis were retrieved from databases in November 2014. Eligible studies were tested by the Hardy–Weinberg equilibrium. The odds ratio and 95% confidence interval (95% CI were analyzed to evaluate the strength of the associations. Pooled effect estimates were derived using a fixed-effect model and a random-effect model according to the heterogeneity of the test results. A subgroup analysis by study type and a sensitivity analysis based on studies that conform to the Hardy–Weinberg equilibrium and studies with postmenopausal women as participants were performed. This meta-analysis involved 15 eligible studies including 1580 cases and 1389 controls. The pooled estimated odds ratios in the dominant and additive genetic models were 0.73 (95% CI: 0.46–1.14, p=0.17 and 1.01 (95% CI: 0.77–1.33, p=0.81, respectively, for rs7975232 and 1.01 (95% CI: 0.81–1.26, p=0.91 and 1.01 (95% CI: 0.77–1.33, p=0.92, respectively, for rs1544410. The subgroup analysis showed that regardless of the dominant or additive genetic model, the effect of pooled odds ratios for rs7975232 and rs1544410 was insignificant. The sensitivity analysis also showed that the pooled effect was not significantly changed. In conclusion, no evidence of association is apparent between polymorphisms of vitamin D receptor genes and osteoporosis risk in the Han Chinese population.

  3. Hepatic Interferon-λ3 (IFNL3 Gene Expression Reveals Not to Be Attenuated in Non-Favorable IFNL3 rs4803217 or IFNL4 rs368234815 Minor Allele Carriers in Chronic Hepatitis C.

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    Ahmad Amanzada

    Full Text Available Genetic polymorphisms in the region of the interferon-λ genes (IFNL associate with clearance of hepatitis C virus (HCV infection. One of these polymorphisms, IFNL4 rs368234815, determines loss or gain of function of the IFNL4 gene by frameshift variation. The very same and a second one, IFNL3 rs4803217, are supposed to impact the expression of IFNL3: while IFNL4 rs368234815 is suggested to modulate IFNL3 transcription, IFNL3 rs4803217 is thought to alter IFNL3 mRNA stability. The latter process is believed to be partially driven by an HCV-induced ectopic expression of myosin heavy chain genes 7B and 7 and their co-expressed microRNAs mir499 and mir208B. These ideas are evidenced by functional investigations on peripheral blood mononuclear and hepatoma cells in culture. Our study aimed at exploring IFNL3 gene expression in clinical samples, i.e., in ex vivo derived liver tissue from patients with chronic hepatitis C (n = 57 and various other diseases (n = 56. By applying an assay designed to specifically quantify IFNL3 and discriminating paralogous IFNL2 transcripts, IFNL3 mRNA expression was not found to differ significantly between chronic hepatitis C and control samples. Among patients with chronic HCV infection, moreover, IFNL3 rs4803217 or IFNL4 rs368234815 minor alleles did not associate with reduced IFNL3 gene expression. Finally, myosin heavy chain genes 7B and 7 and corresponding microRNAs mir499 and mir208B were not found activated in liver in chronic HCV infection. Of note, detectability of MYH7 mRNA related to the procedure of liver biopsy sampling, as tissue obtained by direct punctation of the liver during laparoscopic inspection was less likely to contain MYH7 transcripts than samples acquired by percutaneous punctation. In conclusion, data on ex vivo derived liver tissue samples argue against an attenuating impact of IFNL3 rs4803217 or IFNL4 rs368234815 minor alleles on hepatic IFNL3 gene expression in vivo.

  4. Astyanax fasciatus as bioindicator of water pollution of Rio dos Sinos, RS, Brazil

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    SCHULZ U. H.

    2001-01-01

    Full Text Available The effects of an increasing downriver pollution gradient on the reproductive system of Astyanax fasciatus were investigated in the Rio dos Sinos, RS. The comparison of mean oocyte diameters, gonadal indices and gonado-somatic relationships of specimens captured in polluted areas with individuals from unpolluted reference sites revealed a significant decrease of these parameters with increasing water pollution. High loads of organic and industrial sewage are considered responsible for these effects. Condition factors showed an inverse relationship, and increased significantly in downriver polluted areas. The declining gonadal indices showed that energy was allocated to somatic growth. The results of the study recommend the use of A. fasciatus in biomonitoring essays.

  5. Spectral and photometric study of the symbiotic nova RS ophiuchus in quiet phase

    Science.gov (United States)

    Kondratyeva, L.; Rspaev, F.; Krugov, M.; Serebryanskiy, A.

    2017-07-01

    The results of spectral and photometric study of the recurrent Nova RS Ophiuchus are presented and discussed. Observations were carried out in 2009-2016. During these eight years the fluxes of HI and FeII emission lines have slightly decreased by a factor of 3 - 4. Hα and Hβ exhibit double-peaked profiles with a central absorption. The ratio of the blue and red peaks intensities(V/R) varies from 0.3 to 1.0 for Hβ and from 0.4 to 0.7 for Hα. Possible correlations between changes of the ratio and other spectral parameters were investigated. Dependence of V/R on the radial velocity of absorbtion component is found out.

  6. Spectroscopic observations of the RS CVn-type binary systems SV Cam and XY UMa

    Science.gov (United States)

    Rainger, P. P.; Hilditch, R. W.; Edwin, R. P.

    1991-01-01

    Radial velocities of the primary components of the two RS CVn-type binary systems SV Cam and XY UMa are presented, for the first time for XY UMa. Neither secondary component could be detected. A change of 5.0 + or - 13 km/sec in the systemic velocity of SV Cam is found over 40 years, which lends some support to the current model of SV Cam being a triple system. If the masses of the G3 V primary components of both systems are assumed to be 1 solar mass, then the secondaries are 0.7 (SV Cam) and 0.6 (XY UMa) solar masses; all four stars are main sequence objects with SV Cam being rather more evolved than XY UMa.

  7. Spectroscopic observations of the RS CVn-type binary systems SV Cam and XY UMa

    Energy Technology Data Exchange (ETDEWEB)

    Rainger, P.P.; Hilditch, R.W.; Edwin, R.P. (Saint Andrews Univ. (UK). Observatory)

    1991-01-01

    Radial velocities of the primary components of the two RS CVn-type binary systems SV Cam and XY UMa are presented, for the first time for XY UMa. Neither secondary component could be detected. A change of 5.0+-1.3km s{sup -1} in the systemic velocity of SV Cam is found over 40 years which lends some support to the current model of SV Cam being a triple system. If the masses of the G3 V primary components of both systems are assumed to be one solar mass, then the secondaries are 0.7 (SV CAM) and 0.6 (XY UMa) solar masses; all four stars are main sequence objects with SV Cam being rather more evolved than XY UMa. (author).

  8. In situ growth of SiC nanowires on RS-SiC substrate(s)

    Science.gov (United States)

    Yang, Wen; Araki, Hiroshi; Hu, Quanli; Ishikawa, Nobuhiro; Suzuki, Hiroshi; Noda, Tetsuji

    2004-03-01

    SiC nanowires over 10 μm in length and 20-100 nm in diameter have been synthesized by a novel in situ chemical vapor growth process on RS-SiC plates. The SiC nanowires were identified as single crystal β-SiC with Si-C chemistry. The growth direction of the nanowires is . The growth mechanism is discussed and a kinetic vapor-solid growth mechanism is proposed. The process demonstrates the possibility to fabricate SiC nanowires in ceramic matrix composites, such as continuous SiC fibers reinforced SiC matrix composites, with the SiC nanowires uniformly dispersed in the matrix.

  9. IUE spectra of a flare in the RS Canum Venaticorum-type system UX Arietis

    Science.gov (United States)

    Simon, T.; Linsky, J. L.; Schiffer, F. H., III

    1980-01-01

    IUE spectra of UX Ari obtained during the large flare of 1979 January 1 exhibit chromospheric and transition-region emission-line fluxes about 2.5 and 5.5 times brighter than quiescent fluxes, respectively, and up to 1400 times brighter than the quiet sun. A high-dispersion spectrum of the 2000-3000 A region exhibits enhanced Fe II emission, which is probably associated mainly with the K0 IV star, and enhanced Mg II emission with asymmetric wings extending to +475 km/s. These line wings are interpreted as evidence for mass flow from the K0 IV star to the G5 V star. A speculative scenario of major long-lived RS CVn flares is proposed in which the component stars have very large corotating flux tubes, which occasionally interact. Magnetic reconnection results in flux tubes that temporarily connect the two stars.

  10. Use of information systems in a health institution of Pelotas/RS

    Directory of Open Access Journals (Sweden)

    Isabel Cristina Rosa Barros Rasia

    2012-01-01

    Full Text Available This case study was conducted at a single institution Health Pelotas / RS and aimed to describe some of the subsystems of health information used in this institution, in addition to emphasizing the importance of proper record of information, so that they can be used by managers in the construction Indicators of Health was conducted qualitative research with the chief Nurse of the Unit in April 2011, and the data were investigated by content analysis. We stress the importance of this work proper record of information for the construction of reliable health indicators. The information and teamwork and interaction dimensions of organizational, technological and human, provide an excellent service more dignified and humane that will benefit everyone involved. We conclude that there must be an organizational culture of valuing information, and to know and assess the extent and performance of each information system is extremely important for your use and continuous improvement, becoming an instrument to detect priority focus of attention.

  11. USE OF INFORMATION SYSTEMS IN A HEALTH INSTITUTION OF PELOTAS/RS

    Directory of Open Access Journals (Sweden)

    Isabel Cristina Rosa Barros Rasia

    2012-08-01

    Full Text Available This case study was conducted at a single institution Health Pelotas / RS and aimed to describe some of the subsystems of health information used in this institution, in addition to emphasizing the importance of proper record of information, so that they can be used by managers in the construction Indicators of Health was conducted qualitative research with the chief Nurse of the Unit in April 2011, and the data were investigated by content analysis. We stress the importance of this work proper record of information for the construction of reliable health indicators. The information and teamwork and interaction dimensions of organizational, technological and human, provide an excellent service more dignified and humane that will benefit everyone involved. We conclude that there must be an organizational culture of valuing information, and to know and assess the extent and performance of each information system is extremely important for your use and continuous improvement, becoming an instrument to detect priority focus of attention.

  12. In-vitro digestibility, rheology, structure, and functionality of RS3 from oat starch.

    Science.gov (United States)

    Shah, Asima; Masoodi, Farooq Ahmad; Gani, Adil; Ashwar, Bilal Ahmad

    2016-12-01

    Starches isolated from three different varieties of oat were modified with dual autoclaving-retrogradation treatment to make modified food starches with high contents of type 3 resistant starch (RS3). FT-IR spectroscopy showed increase in the ratio of intensity of 1047cm(-1)/1022cm(-1) on treatment. Morphology of the oat starches changed into a continuous network with increased values for onset temperature (To), peak temperature (Tp), and conclusion temperature (Tc). XRD showed an additional peak at 13° and increase in peak intensity at 20° inclusive of the major X-ray diffraction peaks which reflects formation of amylose-lipid complex from dual autoclaving-retrogradation cycle. Peaks at 13° and 20° are the typical peaks of the V-type pattern. Rheological analysis suggested that retrogradated oat starches showed shear thickening behavior as revealed from Herschel-Bulkely model and frequency sweep. Copyright © 2016 Elsevier Ltd. All rights reserved.

  13. A economia popular solidária em Santa Maria – RS e suas interfaces

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    Juliana Franchi da Silva

    2015-12-01

    Full Text Available O presente artigo tem por objetivo apresentar e analisar o crescimento da economia solidária no contexto da sociedade capitalista e compreender como se processou e tem se mantido o projeto da feira popular solidária da cidade de Santa Maria – RS que já completou 20 anos de existência. A Economia Solidária constitui-se como uma forma alternativa de gestão para que os produtores urbanos e rurais se organizem para também competirem no mercado convencional. E assim, diferencia-se dos princípios que regem o sistema capitalista, pois está centrada na perspectiva de relações sociais solidárias e não em competição.

  14. AVALIAÇÃO DE GENÓTIPOS DE FEIJOEIRO EM SANTA MARIA, RS

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    Wilson Manara

    1993-08-01

    Full Text Available Com o objetivo de avaliar o comportamento de genótipos de feijoeiro em Santa Maria, RS, foram conduzidos quatro experimentos nos anos agrícolas 1987/88, 1988/89, 1989/90 e 1991/92. Utilizou-se o delineamento blocos ao acaso, com quatro repetições, onde os tratamentos constituíram-se de 59 genótipos, em número variável em cada experimento. Os resultados obtidos evidenciaram que os genótipos BR-IPAGRO 3 - Minuano, CNF 5490 e CNF 5491 foram superiores quanto ao número de vagens por planta, número de sementes por vagem, resistência ao acamamento, apresentando ciclo entre 82 e 84 dias e alta produtividade.

  15. The TNFSF15 gene single nucleotide polymorphism rs7848647 is associated with surgical diverticulitis.

    Science.gov (United States)

    Connelly, Tara M; Berg, Arthur S; Hegarty, John P; Deiling, Sue; Brinton, David; Poritz, Lisa S; Koltun, Walter A

    2014-06-01

    To determine if single nuclear polymorphisms (SNPs) in the TFNSF15 gene play a role in patients requiring surgery for diverticulitis. A role for a genetic predisposition in diverticulitis is suggested by its association with hereditary connective tissue disorders, youthful onset in some patients, and the observation of families with multiple affected individuals. The TNFSF15 gene has been associated with other inflammatory diseases affecting the colon such as medically refractory ulcerative colitis (UC), aggressive Crohn's disease (CD), and pouchitis after restorative proctocolectomy. In the discovery phase of this study, 21 sporadic surgical diverticulitis (SD) patients (9 female, mean age = 52 ± 5) and 5 individuals from a single family with surgically managed diverticulitis [familial diverticulitis (FD), 4 female, mean age = 51.1 ± 7] were studied. SD patients were age and sex matched with 3 separate groups of healthy, CD and UC control patients. All patients were genotyped for 5 known TNFSF15-associated SNPs. The SNP discovered to be associated with diverticulitis (rs7848647) was then confirmed in a separate test group composed of 34 additional patients (20 female, mean age 57.7 ± 2) who also underwent surgical treatment for diverticulitis. These patients were age matched to a new control cohort of patients having no history of diverticulitis (26 female). Patients were genotyped using a TaqMan assay. In the discovery phase, logistical regression on matched subjects was performed to determine an association of TNFSF SNP with diverticulitis versus the control groups. In the test phase, significance for the rs7848647 SNP was assessed by the Fischer's exact test. In the discovery phase, the TNFSF15 SNP rs7848647 was significantly associated with SD (p = 0.0003) versus all control groups studied. The risk allele for this SNP (G substituted for A) was found in all SD patients. The homozygous GG allele was found in 62% (13/21) of SD patients versus only 5% (1

  16. Patrimônio arquitetônico cultural: o caso de Pinheiro Machado/RS

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    Claure Morrone Parfitt

    2015-01-01

    Full Text Available The cultural architectural heritage of a city is intimately linked to the local identity as well as to historical and artistical values. Its preservation must transcend generations. However, what is generally verified is the lack of records. This article aims to identify the architectural heritage of the city of Pinheiro Machado/RS. It started with an inventory made from simplified files, based on the ones used by IPHAN. The criteria adopted were: the relation with artistical or historical values; having any architectural or typological significance, value or quality; having any cultural, symbolical cultural, or historical value; and any constructive, technological or plastic value or quality. Twenty nine buildings located in the central area of the city were identified. They belong to several historical periods, from 19th and 20th centuries, and were classified according to their value.

  17. An experimental school prototype: Integrating 3rs (reduce, reuse & recycle concept into architectural design

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    Kong Seng Yeap

    2012-06-01

    Full Text Available The authors conducted a design project to examine the use of school as an ecological learning hub for children. Specifically, this study explores the ecological innovations that transform physical environment into three-dimensional textbooks for environmental education. A series of design workshops were carried out to gain interdisciplinary input for ecological school design. The findings suggest to integrate the concept of 3Rs (Reduce, Reuse & Recycle into the physical environment. As a result, an experimental school prototype is developed. It represents a series of recommendations that are rendered by novel ideas through the amalgamation of architecture, ecology and education. These findings promote the development of sustainable and interactive learning spaces through cross-disciplinary investigations in school architecture. Designers and practitioners interested in educational facilities design would find this article useful.

  18. Determinants of prelacteal feeding among infants of RS Pura block of Jammu and Kashmir, India

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    Sunil K Raina

    2012-01-01

    Full Text Available Objective: To assess the role of various factors in determining prelacteal feeding in block R.S. Pura of district Jammu. Materials and Methods: A stratified two-stage design with villages as the primary sampling unit and lactating mothers as the secondary sampling unit. Villages were divided into different clusters on the basis of population and sampling units were selected by a simple random technique. Results: Giving prelacteal feed is almost universal with 88% of mothers feeding their children with prelacteal feeds. Income seemed to have significant effect on the preference of prelacteal feeds with low income groups showing lower preference for giving prelacteal feeds. Conclusion: The study showed, interalia, that a poor knowledge regarding infant feeding practice was prevalent among mothers.

  19. Grapes, wine and cultural identity at Serra Gaúcha (RS, Brazil

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    Joice Lavandoski

    2012-09-01

    Full Text Available The article aims to understand the relevance of wine production at Serra Gaúcha region (Rio Grande State, Brazil and unveil the role played by grapes and wine for XIXth century Italian migrants as for their contemporary descendents. A research was conducted at Vale dos Vinhedos (Vineyards Valley,(RS, Brazil, where a strong relation between wine and tourism exists. Bibliographical research, oral history and semi- structured interviews permitted the construction of a collective subject discourse. As a result it was revealed that wine production was important at first for subsistence and also a way to promote economic growth; at present, grapes and wine are cultural identity markers with which community members present themselves to tourist and visitors. It is a case study without intention of generalizing for other wine regions in Brazil and brings a new approach to tourism and heritage relations.

  20. Low physical activity accentuates the effect of the FTO rs9939609 polymorphism on body fat accumulation

    DEFF Research Database (Denmark)

    Andreasen, Camilla H; Stender-Petersen, Kirstine L; Mogensen, Mette S

    2008-01-01

    (-16)). Furthermore, obesity-related quantitative traits such as body weight, waist circumference, fat mass, and fasting serum leptin levels were significantly elevated in A-allele carriers. An interaction between the FTO rs9939609 genotype and physical activity (P = 0.007) was found, where physically inactive...... homozygous risk A-allele carriers had a 1.95 +/- 0.3 kg/m(2) increase in BMI compared with homozygous T-allele carriers. CONCLUSIONS: We validate that variation in FTO is associated with type 2 diabetes when not adjusted for BMI and with an overall increase in body fat mass. Furthermore, low physical......OBJECTIVE: Three independent studies have shown that variation in the fat mass and obesity-associated (FTO) gene associates with BMI and obesity. In the present study, the effect of FTO variation on metabolic traits including obesity, type 2 diabetes, and related quantitative phenotypes...

  1. CERAMBYCIDAE BEETLES ASSOCIATED TO Eucalyptus spp. IN THE MUNICIPALITY OF PINHEIRO MACHADO, RS

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    Oderlei Bernardi

    2011-03-01

    Full Text Available The objective of this study was to collect, identify and carry out a faunistic characterization of Cerambycidae occurring in a forest of Eucalyptus spp., on São Manoel farm, in the municipality of Pinheiro Machado, RS. In the period from February 2006 to October 2007, collections of insects were performed every 15 days, with three ethanol traps. After selection procedures, the Cerambycidae were identified based on entomological collections and specialized literature. We collected 692 insects, distributed among 29 genera and 40 species. The most abundant species were Acanthoderes jaspidea, Chlorida costata, Compsocerus barbicornis, Eburodacrys sp., Eurysthea hirta, Neoclytus curvatus and Nyssodrysina lignaria, which represented 81.17% of the total individuals. Cerambycidae were collected during practically the entire sampling period, but the largest number at a single collection occurred in the month of December. Several species demonstrate potential for damaging Eucalyptus spp., of which Neoclytus curvatus deserves the most attention, because it represented almost half of the insects collected.

  2. Mechanistic evaluation of the effect of thermal-treating on Eudragit RS matrices.

    Science.gov (United States)

    Azarmi, Shirzad; Ghaffari, Fatemeh; Löbenberg, Raimar; Nokhodchi, Ali

    2005-01-01

    Thermal treatment of acrylic matrices was recently introduced as a tool for prolonging the release of drug. Thermal treatment at temperatures above the T(g) of the polymer can decrease drug release rate. In this research we studied the mechanism of the effect of thermal treatment on Eudragit RS matrices. Indomethacin was used as model drug. The results showed that polymer chain movement and redistribution of the polymer in the tablet matrix structure after thermal-treating is the possible mechanism of drug release prolongation. The melting and resolidification of the polymer, due to the thermal treatment has apparently resulted in a redistribution of the polymer throughout the matrix and a change in the porosity of the tablet. FTIR results did not show any drug-polymer interaction due to heat-treatment. DSC and PXD studies ruled out the occurrence of solid solution and polymorphic change of the drug.

  3. Improving quality of science through better animal welfare: the NC3Rs strategy.

    Science.gov (United States)

    Prescott, Mark J; Lidster, Katie

    2017-03-22

    Good animal welfare is linked to the quality of research data derived from laboratory animals, their validity as models of human disease, the number of animals required to reach statistical significance and the reproducibility of in vivo studies. Identifying new ways of understanding and improving animal welfare, and promoting these in the scientific community, is therefore a key part of the work of the National Centre for the Replacement, Refinement and Reduction of Animals in Research (NC3Rs). Our strategy for animal welfare includes funding research to generate an evidence base to support refinements, office-led data sharing to challenge existing practices, events and networks to raise awareness of the evidence base, and the creation of online and other resources to support practical implementation of refinement opportunities.

  4. Comment on the three-body theory for period changes in RS CVn systems

    Science.gov (United States)

    Van Buren, D.

    1986-01-01

    In the three-body theory for period variations in RS CVn systems, the timing residuals are interpreted as light-travel time differences as the eclipsing system moves about the barycenter of the triple. These residuals can require a larger orbit than Kepler's law allows, given the time scale of the period variations. For only two of eight systems investigated, SV Cam and V471 Tau, is the theory plausible in that the inferred barycentric motion of the binary is smaller than the orbit of the third body, and the inferred properties of the third body are both reasonable and consistent with its remaining hidden. The theory is thus not a general theory for period changes. Observational testing of the theory is straightforward and may lead to the detection of 'brown dwarfs' associated with eclipsing systems through their kinematic effects.

  5. Conservation and the 4 Rs, which are rescue, rehabilitation, release, and research.

    Science.gov (United States)

    Pyke, Graham H; Szabo, Judit K

    2018-02-01

    Vertebrate animals can be injured or threatened with injury through human activities, thus warranting their "rescue." Details of wildlife rescue, rehabilitation, release, and associated research (our 4 Rs) are often recorded in large databases, resulting in a wealth of available information. This information has huge research potential and can contribute to understanding of animal biology, anthropogenic impacts on wildlife, and species conservation. However, such databases have been little used, few studies have evaluated factors influencing success of rehabilitation and/or release, recommended actions to conserve threatened species have rarely arisen, and direct benefits for species conservation are yet to be demonstrated. We therefore recommend that additional research be based on data from rescue, rehabilitation, and release of animals that is broader in scope than previous research and would have community support. © 2017 Society for Conservation Biology.

  6. PATERNIDADE NA ADOLESCÊNCIA: PREVALÊNCIA E FATORES ASSOCIADOS PELOTAS RS

    OpenAIRE

    Oliveira, Milene Maria Saalfeld de

    2012-01-01

    Objetivo: Descrever a prevalência de paternidade na adolescência (PA) e fatores associados a ela em uma amostra comunitária de indivíduos de 14-35 anos. Métodos: Estudo transversal na zona urbana de Pelotas-RS, Brasil. A seleção amostral foi em múltiplos estágios, considerando a divisão censitária do município. Neste estudo incluíram-se somente indivíduos do sexo masculino e sexualmente ativos. Os dados foram coletados através de questionário autoaplicável nos domicílios selecionados. As hipó...

  7. A validation of the Experiences in Close Relationships-Relationship Structures scale (ECR-RS) in adolescents

    DEFF Research Database (Denmark)

    Donbaek, Dagmar Feddern; Elklit, Ask

    2014-01-01

    Emerging evidence points toward a two-dimensional attachment construct: avoidance and anxiety. The Experiences in Close Relationships-Relationship Structures scale (ECR-RS; Fraley, Heffernan, Vicary, & Brumbaugh, 2011) is a questionnaire assessing two-dimensional relationship-specific attachment...... structures in adults and, hence, moves beyond the traditional focus on romantic relationships. The present article explored the psychometric abilities of the ECR-RS across parental and best friend domains in a sample of 15 to 18-year-olds (n = 1999). Two oblique factors were revealed across domains......, exhibiting satisfactory construct validity, including factorspecific links to the model of adult attachment (Bartholomew & Horowitz, 1991), and independent factor discrimination between subgroups. A robust validation supports the application of the ECR-RS to assessing relationship-specific adolescent...

  8. Environmental Stability of Seed Carbohydrate Profiles in Soybeans Containing Different Alleles of the Raffinose Synthase 2 (RS2) Gene.

    Science.gov (United States)

    Bilyeu, Kristin D; Wiebold, William J

    2016-02-10

    Soybean [Glycine max (L.) Merr.] is important for the high protein meal used for livestock feed formulations. Carbohydrates contribute positively or negatively to the potential metabolizable energy in soybean meal. The positive carbohydrate present in soybean meal consists primarily of sucrose, whereas the negative carbohydrate components are the raffinose family of oligosaccharides (RFOs), raffinose and stachyose. Increasing sucrose and decreasing raffinose and stachyose are critical targets to improve soybean. In three recently characterized lines, variant alleles of the soybean raffinose synthase 2 (RS2) gene were associated with increased sucrose and decreased RFOs. The objective of this research was to compare the environmental stability of seed carbohydrates in soybean lines containing wild-type or variant alleles of RS2 utilizing a field location study and a date of planting study. The results define the carbohydrate variation in distinct regional and temporal environments using soybean lines with different alleles of the RS2 gene.

  9. Evolution of Space Shuttle Range Safety (RS) Ascent Flight Envelope Design

    Science.gov (United States)

    Brewer, Joan D.

    2011-01-01

    Ascent flight envelopes are trajectories that define the normal operating region of a space vehicle s position from liftoff until the end of powered flight. They fulfill part of the RS data requirements imposed by the Air Force s 45th Space Wing (45SW) on space vehicles launching from the Eastern Range (ER) in Florida. The 45SW is chartered to protect the public by minimizing risks associated with the inherent hazards of launching a vehicle into space. NASA s Space Shuttle program has launched 130+ manned missions over a 30 year period from the ER. Ascent envelopes were delivered for each of those missions. The 45SW envelope requirements have remained largely unchanged during this time. However, the methodology and design processes used to generate the envelopes have evolved over the years to support mission changes, maintain high data quality, and reduce costs. The evolution of the Shuttle envelope design has yielded lessons learned that can be applied to future endevours. There have been numerous Shuttle ascent design enhancements over the years that have caused the envelope methodology to evolve. One of these Shuttle improvements was the introduction of onboard flight software changes implemented to improve launch probability. This change impacted the preflight nominal ascent trajectory, which is a key element in the RS envelope design. While the early Shuttle nominal trajectories were designed preflight using a representative monthly mean wind, the new software changes involved designing a nominal ascent trajectory on launch day using real-time winds. Because the actual nominal trajectory position was not known until launch day, the envelope analysis had to be customized to account for this nominal trajectory variation in addition to the other envelope components.

  10. ENTREVISTA E CONSTRUÇÃO DE SIGNIFICADOS NA TVE/RS: O PROGRAMA PRIMEIRA PESSOA

    Directory of Open Access Journals (Sweden)

    Laira Ferreira de Campos

    2015-12-01

    Full Text Available RESUMO Este trabalho trata da entrevista e construção de significados no Programa “Primeira Pessoa” da TVE/RS. A pesquisa sobre esse tema leva em conta a amplitude do gênero programas de entrevista na atualidade, aspectos dialógicos e jornalísticos. Com 22 anos de existência e sob a apresentação da jornalista Ivette Brandalise, o programa busca revelar a personalidade de entrevistados dos mais variados segmentos sociais. O objetivo deste trabalho é verificar as potencialidades da entrevista no aprofundamento de informações. A metodologia empregada é a análise da narrativa em Motta (2013 e análise de conversação em Braga (1994 e Marcuschi (1997. Palavras-chave: Entrevista. Primeira Pessoa. Televisão. ABSTRACT This paper discusses the interview and construction of meanings in a program called “Primeira Pessoa” showed at TVE/RS. Research on this theme takes into account the extent of the genre - talk shows - in today´s world, dialogic and journalistic aspects. Having twenty-two years of existence and the journalist Ivette Brandalise as its host, the program seeks to reveal the personality of its guests coming from various social segments. The objective of this study is to verify the interview potentiality in getting further information about the guests. The methodology includes analysis of narrative from Motta (2013 and conversation analysis from Braga (1994 and Marcuschi (1997. Key words: Interview. First Person. Television.

  11. Associations between an obesity related genetic variant (FTO rs9939609 and prostate cancer risk.

    Directory of Open Access Journals (Sweden)

    Sarah J Lewis

    2010-10-01

    Full Text Available Observational studies suggest that obese men have a lower risk of incident prostate cancer, but an increased risk of advanced and fatal cancers. These observations could be due to confounding, detection bias, or a biological effect of obesity. Genetic studies are less susceptible to confounding than observational epidemiology and can suggest how associations between phenotypes (such as obesity and diseases arise. To determine whether the associations between obesity and prostate cancer are causal, we conducted a genetic association study of the relationship between a single nucleotide polymorphism known to be associated with obesity (FTO rs9939609 and prostate cancer. Data are from a population-based sample of 1550 screen-detected prostate cancers, 1815 age- and general practice matched controls with unrestricted prostate specific antigen (PSA values and 1175 low-PSA controls (PSA <0.5 ng/ml. The rs9939609 A allele, which was associated with higher BMI in the sample, was inversely associated with overall (odds ratio (OR versus all controls  = 0.93; 95% confidence interval (CI: 0.85-1.02 p = 0.12 per allele and low-grade (OR = 0.90; 0.81-0.99 p = 0.03 per allele prostate cancer risk, but positively associated with high-grade cancer among cases (OR high- versus low-grade cancer  = 1.16; 0.99-1.37 p = 0.07 per allele. Although evidence for these effects was weak, they are consistent with observational data based on BMI phenotypes and suggest that the observed association between obesity and prostate cancer is not due to confounding. Further research should confirm these findings, extend them to other BMI-related genetic variants and determine whether they are due to detection bias or obesity-related hormonal changes.Controlled-Trials.com ISRCTN20141297.

  12. Genetic variant rs17225178 in the ARNT2 gene is associated with Asperger Syndrome.

    Science.gov (United States)

    Di Napoli, Agnese; Warrier, Varun; Baron-Cohen, Simon; Chakrabarti, Bhismadev

    2015-01-01

    Autism Spectrum Conditions (ASC) are neurodevelopmental conditions characterized by difficulties in communication and social interaction, alongside unusually repetitive behaviours and narrow interests. Asperger Syndrome (AS) is one subgroup of ASC and differs from classic autism in that in AS there is no language or general cognitive delay. Genetic, epigenetic and environmental factors are implicated in ASC and genes involved in neural connectivity and neurodevelopment are good candidates for studying the susceptibility to ASC. The aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2) gene encodes a transcription factor involved in neurodevelopmental processes, neuronal connectivity and cellular responses to hypoxia. A mutation in this gene has been identified in individuals with ASC and single nucleotide polymorphisms (SNPs) have been nominally associated with AS and autistic traits in previous studies. In this study, we tested 34 SNPs in ARNT2 for association with AS in 118 cases and 412 controls of Caucasian origin. P values were adjusted for multiple comparisons, and linkage disequilibrium (LD) among the SNPs analysed was calculated in our sample. Finally, SNP annotation allowed functional and structural analyses of the genetic variants in ARNT2. We tested the replicability of our result using the genome-wide association studies (GWAS) database of the Psychiatric Genomics Consortium (PGC). We report statistically significant association of rs17225178 with AS. This SNP modifies transcription factor binding sites and regions that regulate the chromatin state in neural cell lines. It is also included in a LD block in our sample, alongside other genetic variants that alter chromatin regulatory regions in neural cells. These findings demonstrate that rs17225178 in the ARNT2 gene is associated with AS and support previous studies that pointed out an involvement of this gene in the predisposition to ASC.

  13. Does diabetes mellitus-induced bladder remodeling affect lower urinary tract function? ICI-RS 2011.

    Science.gov (United States)

    Kirschner-Hermanns, Ruth; Daneshgari, Firouz; Vahabi, Bahareh; Birder, Lori; Oelke, Matthias; Chacko, Samuel

    2012-03-01

    Due to an increase in aging population and changing eating habits diabetes mellitus (DM) type II is a rapidly increasing condition worldwide. Although not so detrimental as other co-morbidities, uropathy contributes to a significantly reduced quality-of-life in those affected. The purpose of this ICS-RS report is to highlight clinical and basic research data to outline directions for further research and possible treatment approaches. This report is based on a think tank presentation and discussion at the ICI-RS 2011, original research data and literature research. Clinical and experimental data confirm that detrusor overactivity, both neurogenic and myogenic, and changes in transmitter regulation leading to a hyper- excitability of the detrusor are the major findings in diabetic neuropathic bladders. These findings seem to be related to an earlier stage of DM, whereas detrusor underactivity appears to be linked to later stages of DM. Detrusor smooth muscle cells seem to be modulated directly by hyperglycemia. Data support the theory that hyperglycemia-induced oxidative stress in the detrusor smooth muscle and that micro- and macrovascular events are also responsible for urologic complications of DM. DM causes bladder remodelling leading to uropathy in a mulitfactorial way. Future research should focus on the effects of DM as a function of time and develop novel animal models looking at defined aspects as well as interaction of different aspects- such as oxidative stress in neurogenic, myogenic and urothelial components and the role of inflammation and hypoxia caused by vascular complications. Copyright © 2012 Wiley Periodicals, Inc.

  14. Correlation of ADRB1 rs1801253 Polymorphism with Analgesic Effect of Fentanyl After Cancer Surgeries

    Science.gov (United States)

    Wei, Wei; Tian, Yanli; Zhao, Chunlei; Sui, Zhifu; Liu, Chang; Wang, Congmin; Yang, Rongya

    2015-01-01

    Background Our study aimed to explore the association between β1-adrenoceptor (ADRB1) rs1801253 polymorphism and analgesic effect of fentanyl after cancer surgeries in Chinese Han populations. Material/Methods Postoperative fentanyl consumption of 120 patients for analgesia was recorded. Genotype distributions were detected by allele specific amplification-polymerase chain reaction (ASA-PCR) method. Postoperative pain was measured by visual analogue scale (VAS) method. Differences in postoperative VAS score and postoperative fentanyl consumption for analgesia in different genotype groups were compared by analysis of variance (ANOVA). Preoperative cold pressor-induced pain test was also performed to test the analgesic effect of fentanyl. Results Frequencies of Gly/Gly, Gly/Arg, Arg/Arg genotypes were 45.0%, 38.3%, and 16.7%, respectively, and passed the Hardy-Weinberg Equilibrium (HWE) test. The mean arterial pressure (MAP) and the heart rate (HR) had no significant differences at different times. After surgery, the VAS score and fentanyl consumption in Arg/Arg group were significantly higher than in other groups at the postoperative 2nd hour, but the differences were not obvious at the 4th hour, 24th hour, and the 48th hour. The results suggest that the Arg/Arg homozygote increased susceptibility to postoperative pain. The preoperative cold pressor-induced pain test suggested that individuals with Arg/Arg genotype showed worse analgesic effect of fentanyl compared to other genotypes. Conclusions In Chinese Han populations, ADRB1 rs1801253 polymorphism might be associated with the analgesic effect of fentanyl after cancer surgery. PMID:26694722

  15. Code-Switching na Fala de Polono-Brasileiros de Áurea/RS

    Directory of Open Access Journals (Sweden)

    Marcelo Jacó Krug

    2016-11-01

    Full Text Available O presente estudo tem como objetivo perceber e descrever casos de code-switching na fala de polono-brasileiros do município de Áurea/RS, embasando teoricamente os exemplos de fala dos informantes com as ideias de Poplack (2004; Appel e Muysken (2005; Lüdi (2004; King e Mackey (2007; Muysken (2007, 2011; Macswan (2004; Myers-Scotton (1998; Hamers e Blanc (2004, entre outros, que teorizam o fenômeno do code-switching, sendo este, o uso de mais de um idioma durante um único evento comunicativo. Constatou-se que esse é um fenômeno recorrente na fala dos indivíduos bilíngues observados no local pesquisado, Áurea/RS, que se destaca pelo grande número de descendentes de imigrantes poloneses e por ter o título de “Capital Polonesa dos Brasileiros”. Os exemplos apresentados neste trabalho são falas de mãe (74 anos e filha (49 anos, nas variedades polonesa e portuguesa do local, gravadas e anotadas em caderno de campo a partir da observação de conversas espontâneas e informais, em ambiente familiar. Devido à escassez ou até inexistência de estudos linguísticos relacionados à variedade polonesa local, esse estudo, talvez pioneiro, torna-se relevante, pois além de mostrar que a variedade é usada na localidade pesquisada, destaca ocorrências de code-switching que são recorrentes nas situações de contato linguístico

  16. The rs2233678 polymorphism in PIN1 promoter region reduced cancer risk: a meta-analysis.

    Directory of Open Access Journals (Sweden)

    Qi Li

    Full Text Available BACKGROUND: Published evidence suggests that the rs2233678 (-842 G>C polymorphism in the PIN1 (peptidyl-prolyl cis/trans somerase NIMA-interacting 1 promoter region may be associated with cancer risk; however, the conclusion is still inconclusive. METHODS: We conducted a meta-analysis to determine whether -842 G>C polymorphism was associated with cancer risk. Odds ratio (OR and 95% confidence intervals (95% CI were used to assess the strength of association. Genotype distribution data and adjusted ORs were collected to calculate the pooled ORs. Meta-regression was conducted to detect the source of heterogeneity. Publication bias was evaluated by Egger's test and Begg's test. RESULTS: A total of 11 eligible studies, including 9280 participants, were identified and analyzed. Overall, we found that carriers of the -842 C allele were associated with significantly decreased cancer risk (C vs. G, OR = 0.750, 95% CI: 0.639-0.880, P(heterogeneity = 0.014, estimated by genotype distribution data; CC+GC vs. GG, OR = 0.668, 95% CI: 0.594-0.751, P(heterogeneity = 0.638, estimated by adjusted ORs. No evidence of publication bias was observed. Meta-regression revealed that ethnicities (p = 0.021 and sample size (p = 0.02 but not sources of control (p = 0.069 were the source of heterogeneity. CONCLUSION: These results suggest that the PIN1 rs2233678 (-842 G>C polymorphism significantly reduces cancer risk.

  17. Ensino de enfermagem em Lajeado, RS: resgate histórico Enseñanza de enfermería en Lajeado, RS: rescate historico Nursing teaching in Lajeado, RS: a historical recover

    Directory of Open Access Journals (Sweden)

    Giselda Veronice Hahn

    2006-10-01

    Full Text Available Pesquisa qualitativa histórica, cujo objetivo foi resgatar a trajetória do ensino de Enfermagem no município de Lajeado, a partir da segunda metade do século passado. Utilizou-se como dados primários História Oral e como secundários, documentos, que foram analisados conforme a Análise de Conteúdo de Bardin. Os sujeitos foram alunos, professores e coordenadores de cursos de enfermagem. A profissionalização da enfermagem, na forma de cursos formais e informais, se intensificou nos últimos 50 anos, atendendo ao modelo político-econômico vigente. Os trabalhadores eram precariamente preparados e desenvolviam funções subalternas aos demais profissionais da saúde, ou seja, buscavam responder aos interesses dos médicos e dirigentes institucionais. Porém, a iniciativa de escolas e a atuação de diversos profissionais têm modificando esta realidade na região.Investigación cualitativa histórica, cuyo objetivo ha sido rescatar la trayectoria de la enseñanza de Enfermería en el municipio de Lajeado, desde la segunda mitad del siglo pasado. Como datos primarios se ha utilizado la Historia Oral y como secundarios los documentos, éstos analisados de acuerdo con el Análisis del Contenido de Cardin. Los sujetos fueron alumnos, profesores, y coordinadores de los cursos de Enfermería. El profesionalismo de Enfermería ha sido intenso en los últimos 50 años, a causa del modelo político-económico, y fue hecho con cursos formales e informales. Los trabajadores eran escasamente preparados, desarrollaban funciones subalternas para los otros profesionales de salud y buscaban responder a los intereses de médicos y dirigentes institucionales. Pero, la iniciativa de escuelas y la actuación de distintos profesionales ha cambiado esta realidad en la región.Historical qualitative research whose aim has been to recover nursing teaching path in the Brazilian town of Lajeado/RS, from the second half of the twentieth century. Oral history has

  18. Metabolome-wide association study identified the association between a circulating polyunsaturated fatty acids variant rs174548 and lung cancer.

    Science.gov (United States)

    Wang, Cheng; Qin, Na; Zhu, Meng; Chen, Minjian; Xie, Kaipeng; Cheng, Yang; Dai, Juncheng; Liu, Jia; Xia, Yankai; Ma, Hongxia; Jin, Guangfu; Amos, Christopher I; Hu, Zhibin; Lin, Dongxin; Shen, Hongbing

    2017-10-26

    Quantitative trait loci (QTLs) are widely used as instruments to infer causal risk factors of diseases based on the idea of mendelian randomization. Plasma metabolites can serve as risk factors of cancer, and the heritability of many circulating metabolites was high. We conducted a metabolome-wide association study (MWAS) to systematically investigate the effects of genetic variants on metabolites and lung cancer based on published genome-wide association study (GWASs) and metabolic-QTL (mQTL) study. Then we confirmed the results by subsequent genetic and metabolic validations and inferred the causal relationship between identified metabolites and lung cancer through genetic variant(s). We firstly identified six polyunsaturated fatty acids (PUFAs) represented by rs174548-linked haplotype were significantly associated with lung cancer risk in a Chinese GWAS (2311 cases and 3077 controls). Rs174548 was further confirmed to be associated with lung cancer in 13 821 Europeans and 18 471 Asians (ORmeta = 0.87, Pmeta = 1.76 × 10-15) and the effect was much stronger in females (Pinteraction = 6.00 × 10-4). We next validated rs174548-plasma PUFA association in 253 Chinese subjects (β = -0.57, P = 1.68 × 10-3). Rs174548 was also found associated with FADS1 (the major fatty acid desaturase of identified PUFAs) expression in liver tissues. Taken together, we found that rs174548 was associated with both PUFAs and lung cancer. Because rs174548 was the only mQTL variant of PUFAs reported by previous GWASs and explained a large proportion of heritability, we proposed that plasma PUFAs could be causally associated with lung cancer based on the idea of mendelian randomization. These findings provide a diet-related risk factor and may have important implications for prevention on lung cancer. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  19. Androgenic alopecia is associated with less dietary soy, lower [corrected] blood vanadium and rs1160312 1 polymorphism in Taiwanese communities.

    Directory of Open Access Journals (Sweden)

    Ching-Huang Lai

    Full Text Available Although the genetic basis of androgenic alopecia has been clearly established, little is known about its non-genetic causes, such as environmental and lifestyle factors.This study investigated blood and urine heavy metals concentrations, environmental exposure factors, personal behaviors, dietary intakes and the genotypes of related susceptibility genes in patients with androgenic alopecia (AGA.Age, AGA level, residence area, work hours, sleep patterns, cigarette usage, alcohol consumption, betel nut usage, hair treatments, eating habits, body heavy metals concentrations and rs1998076, rs913063, rs1160312 and rs201571 SNP genotype data were collected from 354 men. Logistic regression analysis was performed to examine whether any of the factors displayed odds ratios (ORs indicating association with moderate to severe AGA (≥ IV. Subsequently, Hosmer-Lemeshow, Nagelkerke R(2 and accuracy tests were conducted to help establish an optimal model.Moderate to severe AGA was associated with the AA genotype of rs1160312 (22.50, 95% CI 3.99-126.83, blood vanadium concentration (0.02, 95% CI 0.01-0.04, and regular consumption of soy bean drinks (0.23, 95% CI 0.06-0.85, after adjustment for age. The results were corroborated by the Hosmer-Lemeshow test (P = 0.73, Nagelkerke R(2 (0.59, accuracy test (0.816 and area under the curve (AUC; 0.90, 0.847-0.951 analysis.Blood vanadium and frequent soy bean drink consumption may provide protect effects against AGA. Accordingly, blood vanadium concentrations, the AA genotype of rs1160312 and frequent consumption of soy bean drinks are associated with AGA.

  20. SaeRS Is Responsive to Cellular Respiratory Status and Regulates Fermentative Biofilm Formation in Staphylococcus aureus.

    Science.gov (United States)

    Mashruwala, Ameya A; Gries, Casey M; Scherr, Tyler D; Kielian, Tammy; Boyd, Jeffrey M

    2017-08-01

    Biofilms are multicellular communities of microorganisms living as a quorum rather than as individual cells. The bacterial human pathogen Staphylococcus aureus uses oxygen as a terminal electron acceptor during respiration. Infected human tissues are hypoxic or anoxic. We recently reported that impaired respiration elicits a programmed cell lysis (PCL) phenomenon in S. aureus leading to the release of cellular polymers that are utilized to form biofilms. PCL is dependent upon the AtlA murein hydrolase and is regulated, in part, by the SrrAB two-component regulatory system (TCRS). In the current study, we report that the SaeRS TCRS also governs fermentative biofilm formation by positively influencing AtlA activity. The SaeRS-modulated factor fibronectin-binding protein A (FnBPA) also contributed to the fermentative biofilm formation phenotype. SaeRS-dependent biofilm formation occurred in response to changes in cellular respiratory status. Genetic evidence presented suggests that a high cellular titer of phosphorylated SaeR is required for biofilm formation. Epistasis analyses found that SaeRS and SrrAB influence biofilm formation independently of one another. Analyses using a mouse model of orthopedic implant-associated biofilm formation found that both SaeRS and SrrAB govern host colonization. Of these two TCRSs, SrrAB was the dominant system driving biofilm formation in vivo We propose a model wherein impaired cellular respiration stimulates SaeRS via an as yet undefined signal molecule(s), resulting in increasing expression of AtlA and FnBPA and biofilm formation. Copyright © 2017 American Society for Microbiology.

  1. Proteomic Identification of saeRS-Dependent Targets Critical for Protective Humoral Immunity against Staphylococcus aureus Skin Infection.

    Science.gov (United States)

    Zhao, Fan; Cheng, Brian L; Boyle-Vavra, Susan; Alegre, Maria-Luisa; Daum, Robert S; Chong, Anita S; Montgomery, Christopher P

    2015-09-01

    Recurrent Staphylococcus aureus skin and soft tissue infections (SSTIs) are common despite detectable antibody responses, leading to the belief that the immune response elicited by these infections is not protective. We recently reported that S. aureus USA300 SSTI elicits antibodies that protect against recurrent SSTI in BALB/c but not C57BL/6 mice, and in this study, we aimed to uncover the specificity of the protective antibodies. Using a proteomic approach, we found that S. aureus SSTI elicited broad polyclonal antibody responses in both BALB/c and C57BL/6 mice and identified 10 S. aureus antigens against which antibody levels were significantly higher in immune BALB/c serum. Four of the 10 antigens identified are regulated by the saeRS operon, suggesting a dominant role for saeRS in protection. Indeed, infection with USA300Δsae failed to protect against secondary SSTI with USA300, despite eliciting a strong polyclonal antibody response against antigens whose expression is not regulated by saeRS. Moreover, the antibody repertoire after infection with USA300Δsae lacked antibodies specific for 10 saeRS-regulated antigens, suggesting that all or a subset of these antigens are necessary to elicit protective immunity. Infection with USA300Δhla elicited modest protection against secondary SSTI, and complementation of USA300Δsae with hla restored protection but incompletely. Together, these findings support a role for both Hla and other saeRS-regulated antigens in eliciting protection and suggest that host differences in immune responses to saeRS-regulated antigens may determine whether S. aureus infection elicits protective or nonprotective immunity against recurrent infection. Copyright © 2015, American Society for Microbiology. All Rights Reserved.

  2. Detection of cholesteatoma: High-resolution DWI using RS-EPI and parallel imaging at 3 tesla.

    Science.gov (United States)

    Algin, O; Aydın, H; Ozmen, E; Ocakoglu, G; Bercin, S; Porter, D A; Kutluhan, A

    2017-06-30

    The purpose of this study is to evaluate the impact of RS-EPI-DWI in the detection of cholesteatoma and to compare with single-shot echo-planar DWI (SS-EPI-DWI). Diffusion-weighted and apparent diffusion-coefficient (ADC) images were obtained using RS-EPI and SS-EPI techniques in 30 patients. Presence of cholesteatoma (3 point scale), amount of artefacts (4 point scale), visibility (4 point scale), and ADC values of the lesions were assessed. The results of both techniques were compared with each other and gold-standard (GS) test results. Lesion visibility and presence of artefact scores of RS-EPI-DWI group were significantly different from those of the SS-EPI group. RS-EPI-DWI images had fewer artefacts and higher visibility scores. The sensitivity, specificity, negative/positive-predictive, and overall-agreement values of RS-EPI-DWI technique were 100%, 78%, 100%, 74%, and 87%; respectively. These values for SS-EPI-DWI technique were 91%, 60%, 88%, 67%, and 75%; respectively. Also, these values were higher on axial plane than coronal plane images for ADC measurements. Based on gold-standard test findings, agreement values were good (κ=0.74) for RS-EPI-DWI and moderate for SS-EP-DWI (κ=0.50) techniques (PEPI-DWI technique allows a higher spatial-resolution and this technique is less susceptible to artefacts when compared with SS-EPI technique. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  3. [Clinical Study of Rs-EPI DWI to Improve Imaging Quality and Assessment on Intracranial Mass Lesions].

    Science.gov (United States)

    Zhang, Kai; Xia, Chun-Chao; Yue, Qiang; Guo, Tao; Peng, Wan-Lin; Li, Yu-Ming; Li, Lei; Zhao, Fei; Pu, Jin; Leng, Qi; Li, Zhen-Lin

    2017-05-01

    To explore the clinical value of readout-segmented echo planar imaging (Rs-EPI) sequence in the assessment of intracranial mass lesions compared to the standard single-shot EPI (Ss-EPI) sequence. We included 21 patients with intracranial mass lesions who underwent both Ss-EPI diffusion weighted imaging (DWI) and Rs-EPI DWI at 3.0T MR scanner with a twenty-channel head-neck coil. The quality of images was assessed by two experienced radiologists independently. The differences in image quality between two sequences were analyzed using Wilcoxon signed-rank test. Inter-observer agreements were analyzed using interclass correlation coefficient (ICC) and Kappa test. All objectives were completed on 3.0T MR. The signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) in Rs-EPI DWI were higher than those in Ss-EPI DWI (130.46±49.10 vs. 71.58±30.43, P=0.000; 33.22±18.86 vs. 17.92±18.72, P=0.003). The scores of overall image quality, ghost artifact where next to the paranasal sinuses, mastoid air cells and frontal sinus of Rs-EPI DWI were significantly higher than those of Ss-EPI DWI. Meanwhile, the geometric distortion of anatomical structures of Rs-EPI DWI were significantly lower compared to Ss-EPI DWI sequence (0.016±0.021 vs. 0.037±0.069, P=0.00). The inter-reader and intra-reader agreements for the assessment of qualitative parameters were good [0.74≤Kappa value or ICC≤0.92]. Rs-EPI DWI sequence is a potential technique to improve the imaging quality in the diagnosis of intracranial mass lesions.

  4. Androgenic Alopecia Is Associated with Less Dietary Soy, Higher Blood Vanadium and rs1160312 1 Polymorphism in Taiwanese Communities

    Science.gov (United States)

    Lai, Ching-Huang; Chu, Nain-Feng; Chang, Chi-Wen; Wang, Shu-Li; Yang, Hsin-Chou; Chu, Chi-Ming; Chang, Chu-Ting; Lin, Ming-Huang; Chien, Wu-Chien; Su, Sui-Lung; Chou, Yu-Ching; Chen, Kang-Hua; Wang, Wei-Ming; Liou, Saou-Hsing

    2013-01-01

    Background Although the genetic basis of androgenic alopecia has been clearly established, little is known about its non-genetic causes, such as environmental and lifestyle factors. Objective This study investigated blood and urine heavy metals concentrations, environmental exposure factors, personal behaviors, dietary intakes and the genotypes of related susceptibility genes in patients with androgenic alopecia (AGA). Design Age, AGA level, residence area, work hours, sleep patterns, cigarette usage, alcohol consumption, betel nut usage, hair treatments, eating habits, body heavy metals concentrations and rs1998076, rs913063, rs1160312 and rs201571 SNP genotype data were collected from 354 men. Logistic regression analysis was performed to examine whether any of the factors displayed odds ratios (ORs) indicating association with moderate to severe AGA (≧IV). Subsequently, Hosmer-Lemeshow, Nagelkerke R2 and accuracy tests were conducted to help establish an optimal model. Results Moderate to severe AGA was associated with the AA genotype of rs1160312 (22.50, 95% CI 3.99–126.83), blood vanadium concentration (0.02, 95% CI 0.01–0.04), and regular consumption of soy bean drinks (0.23, 95% CI 0.06–0.85), after adjustment for age. The results were corroborated by the Hosmer-Lemeshow test (P = 0.73), Nagelkerke R2 (0.59), accuracy test (0.816) and area under the curve (AUC; 0.90, 0.847–0.951) analysis. Conclusions Blood vanadium and frequent soy bean drink consumption may provide protect effects against AGA. Accordingly, blood vanadium concentrations, the AA genotype of rs1160312 and frequent consumption of soy bean drinks are associated with AGA. PMID:24386074

  5. Androgenic alopecia is associated with less dietary soy, lower [corrected] blood vanadium and rs1160312 1 polymorphism in Taiwanese communities.

    Science.gov (United States)

    Lai, Ching-Huang; Chu, Nain-Feng; Chang, Chi-Wen; Wang, Shu-Li; Yang, Hsin-Chou; Chu, Chi-Ming; Chang, Chu-Ting; Lin, Ming-Huang; Chien, Wu-Chien; Su, Sui-Lung; Chou, Yu-Ching; Chen, Kang-Hua; Wang, Wei-Ming; Liou, Saou-Hsing

    2013-01-01

    Although the genetic basis of androgenic alopecia has been clearly established, little is known about its non-genetic causes, such as environmental and lifestyle factors. This study investigated blood and urine heavy metals concentrations, environmental exposure factors, personal behaviors, dietary intakes and the genotypes of related susceptibility genes in patients with androgenic alopecia (AGA). Age, AGA level, residence area, work hours, sleep patterns, cigarette usage, alcohol consumption, betel nut usage, hair treatments, eating habits, body heavy metals concentrations and rs1998076, rs913063, rs1160312 and rs201571 SNP genotype data were collected from 354 men. Logistic regression analysis was performed to examine whether any of the factors displayed odds ratios (ORs) indicating association with moderate to severe AGA (≥ IV). Subsequently, Hosmer-Lemeshow, Nagelkerke R(2) and accuracy tests were conducted to help establish an optimal model. Moderate to severe AGA was associated with the AA genotype of rs1160312 (22.50, 95% CI 3.99-126.83), blood vanadium concentration (0.02, 95% CI 0.01-0.04), and regular consumption of soy bean drinks (0.23, 95% CI 0.06-0.85), after adjustment for age. The results were corroborated by the Hosmer-Lemeshow test (P = 0.73), Nagelkerke R(2) (0.59), accuracy test (0.816) and area under the curve (AUC; 0.90, 0.847-0.951) analysis. Blood vanadium and frequent soy bean drink consumption may provide protect effects against AGA. Accordingly, blood vanadium concentrations, the AA genotype of rs1160312 and frequent consumption of soy bean drinks are associated with AGA.

  6. Association Between Polymorphism rs678653 in Human Cyclin D1 Gene (CCND1) and Susceptibility to Cancer: A Meta-Analysis.

    Science.gov (United States)

    Dai, Xichao; Zhang, Xizhi; Wang, Buhai; Wang, Chaomin; Jiang, Jingting; Wu, Changping

    2016-03-16

    To assess the association between polymorphism rs678653 in human Cyclin D1 gene (CCND1) and the risk of cancer. Multiple biomedical databases were systematically searched. Pooled odds ratios (OR) and 95% confidence intervals (95% CIs) were calculated in the appropriate model. In total, 17 case-control studies from 14 articles were included. When combing all available data, no significant association of rs678653 with cancer risk was observed under different genetic models. Stratification by ethnicity also indicated that rs678653 was not correlated with cancer risk in Taiwanese or Indian populations. When stratified by cancer type, no significant association was found between polymorphism rs678653 and digestive tract cancer, head and neck cancer, and gynecological cancer risk. Our comprehensive meta-analysis suggests that the polymorphism rs678653 in CCND1 has no association with cancer risk in different population and disease contexts, indicating that CCND1 rs678653 does not serve a significant biological function in predicting cancer risk.

  7. The rs1990760 polymorphism within the IFIH1 locus is not associated with Graves' disease, Hashimoto's thyroiditis and Addison's disease

    Directory of Open Access Journals (Sweden)

    Seidl Christian

    2009-12-01

    Full Text Available Abstract Background Three genes have been confirmed as major joint susceptibility genes for endocrine autoimmune disease:human leukocyte antigen class II, cytotoxic T-lymphocyte antigen 4 and protein tyrosine phosphatase non-receptor type 22. Recent studies showed that a genetic variation within the interferon induced helicase domain 1 (IFIH1 locus (rs1990760 polymorphism is an additional risk factor in type 1 diabetes and Graves' disease (GD. Methods The aim of the present study was to investigate the role of the rs1990760 polymorphism within the IFIH1 gene in German patients with GD (n = 258, Hashimoto's thyroiditis (HT, n = 106, Addison's disease (AD, n = 195 and healthy controls (HC, n = 227 as well as in 55 GD families (165 individuals, German and 100 HT families (300 individuals, Italian. Furthermore, the interaction between rs1990760 polymorphism with human leukocyte antigen (HLA risk haplotype DQ2(DQA*0501-DQB*0201, the risk haplotypes DQ2/DQ8 (DQA*0301-DQB*0302 and the status of thyroglobulin antibody (TgAb, thyroid peroxidase antibody (TPOAb and TSH receptor antibody (TRAb in patients and families were analysed. Results No significant differences were found between the allele and genotype frequencies for rs1990760 IFIH1 polymorphism in patients with GD, HT, AD and HC. Also no differences were observed when stratifying the IFIH1 rs1990760 polymorphism for gender, presence or absence of thyroid antibodies (GD:TRAb and HT:TPOAb/TgAb and HLA risk haplotypes (DQ2:for GD and HT, DQ2/DQ8:for AD. Furthermore the transmission analysis in GD and HT families revealed no differences in alleles transmission for rs1990760 IFIH1 from parents with or without HLA risk haplotype DQ2 to the affected offspring. In contrast, by dividing the HT parents according to the presence or absence of thyroid Ab titers, mothers and fathers both positive for TPOAb/TgAb overtransmitted the allele A of IFIH1 rs1990760 to their HT affected offspring (61.8% vs 38.2%;p = 0

  8. Association of IFITM3 rs12252 polymorphisms, BMI, diabetes, and hypercholesterolemia with mild flu in an Iranian population.

    Science.gov (United States)

    Mehrbod, Parvaneh; Eybpoosh, Sana; Fotouhi, Fatemeh; Shokouhi Targhi, Hadiseh; Mazaheri, Vahideh; Farahmand, Behrokh

    2017-11-09

    IFITM3 has been suggested to be associated with infection in some ethnic groups. Diabetes and hypercholesterolemia are also important clinical conditions that can predispose individuals to infection. The aim of this study was to investigate the association of rs12252 C polymorphism, BMI, diabetes, and hypercholesterolemia with mild flu in an Iranian population. We conducted a case-control study, including 79 mild flu and 125 flu-negative individuals attending primary care centers of three provinces of Iran (i.e, Markazi, Semnan, and Zanjan). Pharyngeal swab specimens were collected from all participants, and were subjected to RNA and DNA extractions for Real-time PCR and PCR tests. All PCR products were then sequenced to find T/C polymorphisms in the rs12252 region. Data on demographic, anthropometric, and clinical variables were collected from participants' medical records available in the primary care centers. The data was analyzed using DNASIS (v. 2.5) and Stata (v.11) software. All participants were of Fars ethnic background. The allele frequency for rs12252-C was found to be 9.49% among cases and 2.40% among controls. Carriers of the rs12252 C allele (CT + CC genotypes) showed 5.92 folds increase in the risk of mild flu comparing to the T allele homozygotes (P value: 0.007). We also found a significant positive association between rs12252 C allele heterozygote and mild flu (OR: 7.62, P value: 0.008), but not in C allele homozygote group (OR: 2.71, P value: 0.406). Similarly, we did not find a significant association between mild flu and BMI (OR: 1.06, P value: 0.087), diabetes (OR: 0.61, P value: 0.392), and hypercholesterolemia (OR: 0.50, P value: 0.393) in multivariable logistic regression. This is the first study evaluating the association between rs12252 polymorphisms, diabetes, hypercholesterolemia, and BMI and susceptibility to mild flu in an Iranian population. Our results suggest a significant positive association between mild flu and rs12252 C

  9. Analysis of the rs35959442 polymorphism in Hb E/β-thalassemia in Guangxi Province of the Republic of China.

    Science.gov (United States)

    He, Yunyan; Chen, Ping; Lin, Weixiong; Luo, Jianming

    2012-01-01

    Hb E [β26(B8)Glu→Lys]/β-thalassemia (β-thal) is a worldwide inherited disorder. We determined the phenotype of 65 unrelated Hb E/β-thal subjects and 70 healthy individuals in the Guangxi Province of the Republic of China (ROC). Single nucleotide polymorphism (SNP) rs35959442 in HBS1L analysis was performed using the polymerase chain reaction (PCR)/restriction enzyme method. The data suggested that the frequency of the rs35959442 polymorphism was relatively high in patients with Hb E/β-thal in Guangxi Province, ROC, when associated with Hb F augmentation.

  10. The interaction effects of pri-let-7a-1 rs10739971 with PGC and ERCC6 gene polymorphisms in gastric cancer and atrophic gastritis.

    Directory of Open Access Journals (Sweden)

    Qian Xu

    Full Text Available BACKGROUND: The aim of this study was to investigate the interaction effects of pri-let-7a-1 rs10739971 with pepsinogen C (PGC and excision repair cross complementing group 6 (ERCC6 gene polymorphisms and its association with the risks of gastric cancer and atrophic gastritis. We hoped to identify miRNA polymorphism or a combination of several polymorphisms that could serve as biomarkers for predicting the risk of gastric cancer and its precancerous diseases. METHODS: Sequenom MassARRAY platform method was used to detect polymorphisms of pri-let-7a-1 rs10739971 G → A, PGC rs4711690 C → G, PGC rs6458238 G → A, PGC rs9471643 G → C, and ERCC6 rs1917799 in 471 gastric cancer patients, 645 atrophic gastritis patients and 717 controls. RESULTS: An interaction effect of pri-let-7a-1 rs10739971 polymorphism with ERCC6 rs1917799 polymorphism was observed for the risk of gastric cancer (P interaction = 0.026; and interaction effects of pri-let-7a-1 rs10739971 polymorphism with PGC rs6458238 polymorphism (P interaction = 0.012 and PGC rs9471643 polymorphism (P interaction = 0.039 were observed for the risk of atrophic gastritis. CONCLUSION: The combination of pri-let-7a-1 rs10739971 polymorphism and ERCC6 and PGC polymorphisms could provide a greater prediction potential than a single polymorphism on its own. Large-scale studies and molecular mechanism research are needed to confirm our findings.

  11. Vitamin D receptor rs2228570 polymorphism and invasive ovarian carcinoma risk: pooled analysis in five studies within the Ovarian Cancer Association Consortium

    DEFF Research Database (Denmark)

    Lurie, Galina; Wilkens, Lynne R; Thompson, Pamela J

    2011-01-01

    The association of invasive ovarian carcinoma risk with the functional polymorphism rs2228570 (aka rs10735810; FokI polymorphism) in the vitamin D receptor (VDR) gene was examined in 1820 white non-Hispanic cases and 3479 controls in a pooled analysis of five population-based case-control studies...... analysis provides further evidence that the VDR rs2228570 polymorphism might influence ovarian cancer susceptibility....

  12. rs3918242 variant genotype frequency and increased TIMP-2 and MMP-9 expression are positively correlated with cancer invasion in urinary bladder cancer.

    Science.gov (United States)

    Pençe, S; Özbek, E; Ozan Tiryakioğlu, N; Ersoy Tunali, N; Pençe, H H; Tunali, H

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