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Abstracts tagged "genomics"

  • Abstract Number: 660 • 2012 ACR/ARHP Annual Meeting

    Abnormal Neutrophil Development in Human Systemic Lupus Erythematosus

    Namrata Singh1, Mariana J. Kaplan2, Philip L. Cohen3 and Michael F. Denny3, 1Internal Medicine, Temple University, Philadelphia, PA, 2Systemic Autoimmunity Branch, National Institutes of Health/NIAMS, Bethesda, MD, 3Rheumatology, Temple University, Philadelphia, PA

    Background/Purpose: Recent research has increased the appreciation of the contributions of neutrophils to systemic lupus erythematosus (SLE).  An abnormal circulating pool of granulocytes has been…
  • Abstract Number: 1475 • 2012 ACR/ARHP Annual Meeting

    Does Skin Gene Expression Profile Predict Response to Imatinib?

    Shervin Assassi1, Jeffrey T. Chang2, Dinesh Khanna3, Xiaochun Liu1, Daniel Furst4 and Maureen D. Mayes5, 1Rheumatology, Univ of Texas Health Science Center at Houston, Houston, TX, 2University of Texas Health Science Center at Houston, Houston, TX, 3Division of Rheumatology, University of Michigan Medical Center, Ann Arbor, MI, 4David Geffen School of Medicine, Div of Rheumatology, University of California at Los Angeles, Los Angeles, CA, 5Internal Medicine/Rheumatology, Univ of Texas Health Science Center at Houston, Houston, TX

    Background/Purpose: Imatinib is a potent inhibitor of TGF-β signaling. Furthermore, a subgroup of SSc patients shows a prominent TGF-β gene expression signature in skin biopsy…
  • Abstract Number: 522 • 2012 ACR/ARHP Annual Meeting

    Genetic Variation in the NCR3 Locus Is Associated with Anti-SSA⁄SSB Positive Primary Sjögren′s Syndrome in Scandinavian Samples

    Gunnel Nordmark1, Maija-Leena Eloranta1, Per Eriksson2, Elke Theander3, Helena Forsblad-d'Elia4, Roald Omdal5, Marie Wahren-Herlenius6, Roland Jonsson7 and Lars Rönnblom1, 1Rheumatology, Department of Medical Sciences, Uppsala University, Uppsala, Sweden, 2Rheumatology/AIR, Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden, 3Dept of Rheumatology, Skane University Hospital, Lund University, Malmö, Sweden, 4Department of Rheumatology and Inflammation Research, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden, 5Department of Internal Medicine, Stavanger university Hospital, Stavanger, Clinical Immunology Unit, Department of Internal Medicine, Stavanger University Hospital, Stavanger, Norway, 6Dept of Medicine, Karolinska Institutet, Stockholm, Sweden, 7Broegelmann Research Laboratory, the Gade Institute, University of Bergen, Bergen, Norway

    Background/Purpose: Candidate gene studies in primary Sjögren’s syndrome (pSS) have identified polymorphisms in genes involved in the type I interferon (IFN) system and the type…
  • Abstract Number: 1180 • 2012 ACR/ARHP Annual Meeting

    The Sex-Determining Region Y Box 6 Locus: Shared Genetic Susceptibility Between Rheumatoid Arthritis and Psychotic Disorder

    Tony R. Merriman1, Nicola Dalbeth2, Andrew Harrison3, John Highton4, Lisa K. Stamp5, Malcolm D. Smith6, Benedicte A. Lie7, Tore K. Kvien8, Timothy Radstake9, Marieke J.H. Coenen10, Barbara Franke11, Jasper Broen12, Piet Van Riel13, Pilar Barrera14, Sophia Steer15, Marilyn E. Merriman1, Amanda Phipps-Green1, Ruth Topless1, Mansour Zamanpoor16 and Wan Rohani Wan Tain17, 1Department of Biochemistry, University of Otago, Dunedin, New Zealand, 2Medicine, University of Auckland, Auckland, New Zealand, 3Rheumatology Unit, Hutt Hospital, Lower Hutt, New Zealand, 4Dept of Medicine, Univ of Otago Med Sch, Dunedin, New Zealand, 5Department of Medicine, University of Otago, Christchurch, Christchurch, New Zealand, 6Rheumatology Research Unit, Rheumatologist, Adelaide, Australia, 7Department of Medical Genetics, University of Oslo and Oslo University Hospital, Oslo, Norway, 8Dept. of Rheumatology, Diakonhjemmet Hospital, Oslo, Norway, 9Rheumatology, Radboud University Nijmegen Medical Centre, University Medical Center Utrecht, Nijmegen, Utrecht, Netherlands, 10Human Genetics (855), Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, 11Human Genetics (855), Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, 12Department of Rheumatology & Clinical Immunology, University Medical Center, Utrecht, Netherlands, 13Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, 14Rheumatology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, 151 Sloane Ct East Flat 7, London, United Kingdom, 16University of Otago, Dunedin, New Zealand, 17Human Genome Center, School of Medical Sciences, Universiti Sains Malaysia, Malaysia

    Background/Purpose: Rheumatoid arthritis (RA) is a common autoimmune disease and schizophrenia (SZ) is a common psychotic disorder. There is an established negative association between RA…
  • Abstract Number: 433 • 2012 ACR/ARHP Annual Meeting

    Genome Wide Association Analysis of Pain Reduction in Rheumatoid Arthritis Patients Treated with Anti-TNF Medication. Results of the DREAM and Danbio Registries

    Marieke J.H. Coenen1, Masha Umicevic-Mirkov2, Hans Scheffer2, Sophine B. Krintel3, Sita H. Vermeulen4, Julia S. Johansen3, Wietske Kievit5, Mart A.F.J. van de Laar6, Piet L.C.M. van Riel5, Barbara Franke2 and Merete L. Hetland7, 1Human Genetics (855), Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, 2Human Genetics (855), Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, 3DANBIO and Department of Rheumatology, Copenhagen University Hospital at Glostrup, Glostrup, Denmark, 4Human Genetics and Epidemiology, Biostatistics and HTA, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, 5Department of Rheumatology and DREAM registry, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, 6Department of Rheumatology and DREAM registry, Medisch Spectrum Twente & Twente University, Enschede, Netherlands, 7Copenhagen University Hospital Glostrup, Copenhagen, Denmark

    Background/Purpose: Patients with rheumatoid arthritis (RA)  rate pain relief as the highest priority in treatment outcome, and tumor necrosis factor inhibitors (anti-TNF) have proven very…
  • Abstract Number: 996 • 2012 ACR/ARHP Annual Meeting

    Genetic Predictors of Methotrexate Efficacy and Toxicity in Early Rheumatoid Arthritis: Results From the Treatment of Early Aggressive Rheumatoid Arthritis Trial

    Stella Aslibekyan1, Elizabeth Brown2, Richard J. Reynolds3, David T. Redden4, Sarah L. Morgan5, Joseph Baggott1, Jin Sha1, Larry W. Moreland6, James R. O'Dell7, Jeffrey R. Curtis8, S. Louis Bridges Jr.9 and Donna K. Arnett1, 1University of Alabama at Birmingham, Birmingham, AL, 2Univ of Alabama at Birmingham, Birmingham, AL, Birmingham, AL, 3Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, AL, 4Biostatistics, University of Alabama at Birmingham, Birmingham, AL, 5University of Alabama Birmingham, Birmingham, AL, 6Division of Rheumatology & Clinical Immunology, University of Pittsburgh, Pittsburgh, PA, 7Dept of Internal Medicine, Univ of Nebraska Med Ctr, Omaha, NE, 8Rheumatology & Immunology, Univ of Alabama-Birmingham, Birmingham, AL, 9Division of Clinical Immunology & Rheumatology, University of Alabama at Birmingham, Birmingham, AL

    Background/Purpose: Methotrexate (MTX) has emerged as first-line therapy for early moderate to severe rheumatoid arthritis (RA), but individual variation in treatment efficacy and toxicity remains…
  • Abstract Number: 424 • 2012 ACR/ARHP Annual Meeting

    Influence of Pregnancy On Disease Activity-Associated Genes in Rheumatoid Arthritis

    Erik J. Peterson1, Shreyasee Amin2, Hatice Bilgic3, Emily Baechler Gillespie3, Jane E. Salmon4, Ann M. Reed5, Weihua Guan6 and Daniel L. Mueller1, 1Medicine/Rheumatic and Autoimmune Diseases, University of Minnesota Medical School, Minneapolis, MN, 2Division of Rheumatology, Mayo Clinic, Rochester, MN, 3University of Minnesota Medical School, Minneapolis, MN, 4Rheumatology, Hospital for Special Surgery, New York, NY, 5Rheumatology, Mayo Clinic, Rochester, MN, 6University of Minnesota School of Public Health, Minneapolis, MN

    Background/Purpose: Rheumatoid arthritis (RA) disease activity can often quiesce during pregnancy. Nevertheless, most women will experience a disease flare postpartum (PP). We hypothesized that changes…
  • Abstract Number: 997 • 2012 ACR/ARHP Annual Meeting

    Evidence of Novel Genetic Predictors of Methotrexate Efficacy in Rheumatoid Arthritis

    Stella Aslibekyan1, Maria I. Danila2, Jin Sha1, David T. Redden3, Richard J. Reynolds4, Elizabeth Brown5, Laura B. Hughes6, Molly S. Bray1, Sarah L. Morgan7, Larry W. Moreland8, James R. O'Dell9, Jeffrey R. Curtis10, Robert P. Kimberly11, Lindsey A. Criswell12, Robert M. Plenge13, S. Louis Bridges Jr.14 and Donna K. Arnett1, 1University of Alabama at Birmingham, Birmingham, AL, 2Med/Clinical Immun & Rheum, Univ of Alabama-Birmingham, Birmingham, AL, 3Biostatistics, University of Alabama at Birmingham, Birmingham, AL, 4Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, AL, 5Univ of Alabama at Birmingham, Birmingham, AL, Birmingham, AL, 6Med Div of Clin Imm & Rheum, University of Alabama at Birmingham, Birmingham, AL, 7University of Alabama Birmingham, Birmingham, AL, 8Division of Rheumatology & Clinical Immunology, University of Pittsburgh, Pittsburgh, PA, 9Dept of Internal Medicine, Univ of Nebraska Med Ctr, Omaha, NE, 10Rheumatology & Immunology, Univ of Alabama-Birmingham, Birmingham, AL, 11Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, 12Department of Medicine, University of California, San Francisco, Rosalind Russell Medical Research Center for Arthritis, San Francisco, CA, 13Division of Rheumatology, Immunology and Allergy and Division of Genetics, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, 14Division of Clinical Immunology & Rheumatology, University of Alabama at Birmingham, Birmingham, AL

    Background/Purpose: Methotrexate (MTX), a disease-modifying anti-rheumatic drug used as first-line therapy in rheumatoid arthritis (RA), is characterized by considerable heterogeneity in individual treatment response. We…
  • Abstract Number: 409 • 2012 ACR/ARHP Annual Meeting

    Pathway Analysis of Genome-Wide Association Studies On Rheumatoid Arthritis

    Young Ho Lee1, Sung Jae Choi2, Jong Dae Ji2 and Gwan Gyu Song3, 1Internal Medicine, Rheumatology, Korea University Medical Center, Seoul, South Korea, 2Rheumatology, Korea University Medical Center, Seoul, South Korea, 3Div of Rheum, Dept of Int Med, Korea Univ College of Med, Seoul, South Korea

    Background/Purpose: Genome-wide association studies (GWASs) have been successfully used to identify novel common genetic variants that contribute to susceptibility to complex diseases, but individual GWASs…
  • Abstract Number: 998 • 2012 ACR/ARHP Annual Meeting

    Association Study of Genetic Risk Variants for Psoriasis in a Large Cohort of Psoriatic Arthritis, Psoriasis and Controls of the Spanish Population and Association with Relevant Clinical Subphenotypes

    J. D. Cañete1, Jose Luis Fernandez-Sueiro2, Raimon Sanmarti3, Jesus Rodriguez4, Jordi Gratacós5, Rubén Queiro6, Juan Carlos Torre-Alonso7, Jose Perez Venegas8, Santiago Muñoz-Fernandez9, Carlos Gonzalez10, Carlos Montilla11, Daniel Roig12, Alba Erra13, Isabel Acosta14, Antonio Fernández-Nebro15, Pedro Zarco16, Arnald Alonso17, María América López-Lasanta17, Antonio Julià17, Raül Tortosa17 and Sara Marsal18, 1Unitat d'Artritis, Servei de Reumatologia, Hospital Clínic de Barcelona,, Barcelona, Spain, 2Rheumatology Service, Complejo Hospitalario Universitario La Coruña, La Coruña, Spain, 3Rheumatology Service, Hospital Clínic of Barcelona, Barcelona, Spain, 4Rheumatology, Hospital Universitari de Bellvitge, Barcelona, Spain, 5Rheumatology Service, Hospital Parc Taulí, Sabadell (Barcelona), 6Rheumatology Service, Hospital Universitario Central de Asturias, Oviedo, Spain, 7Rheumatology Service, Hospital Monte Naranco, Oviedo, Spain, 8Rheumatology Service, Hospital del SAS de Jerez de la Frontera, Jerez De La Frontera, Spain, 9Rheumatology Service, Hospital Infanta Sofía, Madrid, Spain, 10Rheumatology Service, Hospital Gregorio Marañon, Madrid, Spain, 11Unit Rheumatology, Hospital Universitario de Salamanca, Salamanca, Spain, 12Rheumatology Service, Hospital Universitari de Bellvitge, Hospitalet de Llobregat- Barcelona, Spain, 13Rheumatology Service, Hospital San Rafael, Barcelona, Spain, 14Rheumatology Service, Hospital Universitari Vall d'Hebron, Barcelona, Spain, 15Rheumatology Service, Hospital Regional Universitario Carlos Haya, Málaga, Spain, 16Rheumatology Service, Fundación Hospital Alcorcon, Alcorcon, Madrid, Spain, 17Rheumatology Research Group, Vall d'Hebron Hospital Research Institute, Barcelona, Spain, 18Rheumatology, University Hospital Vall d'Hebron, Barcelona, Spain

    Background/Purpose: Psoriatic Arthritis (PsA) is a complex disease with a substantial genetic risk component (first-degree relative risk ~ 55). Recently, Genomewide Association Studies (GWAS) have…
  • Abstract Number: 313 • 2012 ACR/ARHP Annual Meeting

    Epigenetic Changes in Fibrosis and Myocyte Repair Genes May Contribute to Pathogenesis in Monozygotic Twins Discordant for Cardiac Manifestations of Neonatal Lupus

    Paula S. Ramos1, Timothy D. Howard2, Miranda C. Marion3, Satria Sajuthi4, Robert M. Clancy5, Jill P. Buyon6 and Carl D. Langefeld4, 1Department of Medicine, Medical University of South Carolina, Charleston, SC, 2Center for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, NC, 3Department of Biostatistical Sciences, Wake Forest University Health Sciences, Winston-Salem, NC, 4Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, 5Medicine, New York University School of Medicine, New York, NY, 6Department of Medicine, New York University School of Medicine, New York, NY

    Background/Purpose: Cardiac manifestations of neonatal lupus (cardiac-NL) which comprise conduction defects and cardiomyopathy, occur in fetuses exposed to maternal anti-Ro antibodies and carry a case…
  • Abstract Number: 999 • 2012 ACR/ARHP Annual Meeting

    Identification of New Epistatic Interactions with the HLA Region in the Genetic Etiology of Psoriasis and Psoriatic Arthritis

    Sara Marsal1, Juan D. Cañete2, Jose Luis Fernandez-Sueiro3, Raimon Sanmarti2, Jesus Rodriguez Moreno4, Jordi Gratacós5, Rubén Queiro6, Carlos Montilla7, Juan Carlos Torre-Alonso8, Jose Perez Venegas9, Santiago Muñoz-Fernández10, Carlos M. Gonzalez11, Daniel Roig12, Alba Erra13, Isabel Acosta1, Antonio Fernández-Nebro14, Pedro Zarco15, Arnald Alonso16, María América López-Lasanta16, Raül Tortosa16 and Antonio Julià16, 1Rheumatology Service, Hospital Universitari Vall d'Hebron, Barcelona, Spain, 2Rheumatology Service, Hospital Clínic of Barcelona, Barcelona, Spain, 3Rheumatology Service, Complejo Hospitalario Universitario La Coruña, La Coruña, Spain, 4Rheumatology Service, Hospital Universitario de Bellvitge., Barcelona, Spain, 5Rheumatology Service, Hospital Universitari Parc Taulí, Sabadell (Barcelona), Spain, 6Rheumatology Service, Hospital Universitario Central de Asturias, Oviedo, Spain, 7Rheumatology Service, Hospital Universitario de Salamanca, Salamanca, Spain, 8H. Monte Naranco, Oviedo, Spain, 9Rheumatology Service, Hospital del SAS de Jerez de la Frontera, Jerez De La Frontera, Spain, 10Unit Rheumatology, Hospital Universitario Infanta Sofía, San Sebastián de los Reyes (Madrid), Spain, 11Rheumatology, Hospital Gregorio Maranon, Madrid, Spain, 12Rheumatology Service, Hospital Universitari de Bellvitge, Hospitalet de Llobregat- Barcelona, Spain, 13Rheumatology Service, Hospital San Rafael, Barcelona, Spain, 14Rheumatology Service, Hospital Regional Universitario Carlos Haya, Málaga, Spain, 15Rheumatology Service, Fundación Hospital Alcorcon, Alcorcon, Madrid, Spain, 16Rheumatology Research Group, Vall d'Hebron Hospital Research Institute, Barcelona, Spain

    Background/Purpose: Psoriatic Arthritis (PsA) is a complex disease and is present in ~11% in patients with Psoriasis (Ps). Recently, Genomewide Association Studies (GWAS) have expanded…
  • Abstract Number: 2548 • 2012 ACR/ARHP Annual Meeting

    Global Molecular Effects of Tocilizumab Therapy in Synovial Biopsies of Early Rheumatoid Arthritis Patients

    Julie Ducreux1, Adrien Nzeusseu Toukap2, Frédéric A. Houssiau1, Patrick Durez3 and Bernard Lauwerys3, 1Institut de Recherche Expérimentale et Clinique, Pôle de Maladies Rhumatismales, Université catholique de Louvain, Brussels, Belgium, 2Pôle de Maladies Rhumatismales, Institut de Recherche Expérimentale et Clinique, Université catholique de Louvain, Brussels, Belgium, 3Department of Rheumatology, Université catholique de Louvain, Brussels, Belgium

    Background/Purpose: Rheumatoid arthritis (RA) is a chronic, systemic autoimmune inflammatory disease that is characterized by the presence of inflammatory cytokines, including interleukin-6 (IL-6). Here, we…
  • Abstract Number: 976 • 2012 ACR/ARHP Annual Meeting

    Effect of Interactions Between Validated Rheumatoid Arthritis Genetic Factors and Environmental Factors On Rheumatoid Arthritis Risk

    Chia-Yen Chen1, Linda T. Hiraki2, Susan Malspeis3, Jing Cui4, Bing Lu4, Robert M. Plenge5, Karen H. Costenbader4 and Elizabeth W. Karlson6, 1Department of Epidemiology, Harvard School of Public Health, Boston, MA, 2Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital, Harvard School of Public Health, Boston, MA, 3Rheumatology, Brigham and Women's Hospital, Boston, MA, 4Rheumatology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 5Division of Rheumatology, Immunology and Allergy and Division of Genetics, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, 6Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital, Harvard Medical School, Boston, MA

    Background/Purpose:  Studies have shown associations between environmental factors and rheumatoid arthritis (RA) risk. Also, genome-wide association studies (GWAS) have identified genetic markers associated with RA…
  • Abstract Number: 2671 • 2012 ACR/ARHP Annual Meeting

    A Genome-Wide Association Study Establishes Muliple Susceptibility Loci for Sjögren’s Syndrome

    Christopher J. Lessard1, He Li2, Indra Adrianto3, John A. Ice3, Roland Jonsson4, Gabor G. Illei5, Maureen Rischmueller6, Gunnel Nordmark7, Xavier Mariette8, Corinne Miceli-Richard9, Marie Wahren-Herlenius10, Torsten Witte11, Michael T. Brennan12, Roald Omdal13, Patrick M. Gaffney3, James A. Lessard14, Wan-Fai Ng15, Nelson L. Rhodus16, Barbara M. Segal17, R. Hal Scofield18, Judith A. James19, Juan-Manuel Anaya20, John B. Harley21, Courtney G. Montgomery3 and Kathy Moser Sivils19, 1Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation; University of Oklahoma Health Sciences Center, Oklahoma City, OK, 2Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma CIty, OK, 3Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 4Broegelmann Research Laboratory, the Gade Institute, University of Bergen, Bergen, Norway, 5Sjogren's Clinic, NIDCR/ NIH, Bethesda, MD, 6Rheumatology Department, Queen Elizabeth Hospital, Adelaide, Australia, 7Rheumatology, Department of Medical Sciences, Uppsala University, Uppsala, Sweden, 8Rheumatology, Université Paris-Sud, Le Kremlin Bicetre, France, 9Hopital Bicêtre, Le Kremlin Bicêtre, France, 10Dept of Medicine, Karolinska Institutet, Stockholm, Sweden, 11Clinical Immunology and Rheumatology, Medical University Hannover, Hanover, Germany, 12Nidcr NIH, Carolinas Medical Center, Charlotte, NC, 13Department of Internal Medicine, Stavanger university Hospital, Stavanger, Clinical Immunology Unit, Department of Internal Medicine, Stavanger University Hospital, Stavanger, Norway, 14Valley Bone and Joint Clinic, Grand Forks, ND, 15Musculoskeletal Research Group Institute of Cellular Medicine, Newcastle University, Newcastle University, Newcastle, England, 16University of Minnesota, Minneapolis, MN, 17Rheumatology, Hennepin County Medical Center, Minneapolis, MN, 18Arthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 19Oklahoma Medical Research Foundation, Oklahoma City, OK, 20School of Medicine and Health Sciences, Universidad del Rosario. Center for Autoimmune Diseases Research (CREA), Bogotá, Colombia, 21Division of Rheumatology and The Center for Autoimmune Genomics & Etiology, University of Cincinnati, Cincinnati Children's Hospital Medical Center; US Department of Veterans Affairs Medical Center, Cincinnati, OH

    Background/Purpose: Sjögren’s syndrome (SS) is a common, clinically heterogeneous autoimmune disease characterized by exocrine gland dysfunction that involves both innate and adaptive immune responses. A…
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All abstracts accepted to ACR Convergence are under media embargo once the ACR has notified presenters of their abstract’s acceptance. They may be presented at other meetings or published as manuscripts after this time but should not be discussed in non-scholarly venues or outlets. The following embargo policies are strictly enforced by the ACR.

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