Abstracts tagged "genomics"

Abstract Number: 0175 • ACR Convergence 2020
Identifying Immuno-phenotypes in Juvenile Localized Scleroderma with RNA Sequencing
Christina Schutt¹, Emily Mirizio², Kaila Schollaert-Fitch², Claudia Salgado³, Miguel Reyes-Mugica³ and Kathryn Torok², ¹University of Pittsburgh Medical Center, Pittsburgh, PA, ²University of Pittsburgh, Pittsburgh, PA, ³University of Pittsburgh Medical Center, Pittsburgh
Background/Purpose: Juvenile localized scleroderma (jLS) is an autoimmune disease of the skin and underlying tissue characterized by an early inflammatory infiltrate followed by fibrosis and…
Abstract Number: 1969 • ACR Convergence 2020
The Dynamics of Macrophage Sub-Populations in the Inflammatory Phase Following Joint Trauma
Samuel Hamilton¹, Anna Montgomery¹, Niamh Fahy², Maximilian Mayr¹, Shang-Yang Chen¹, Gaurav Gadhvi¹, Yvonne Bastiaansen-Jenniskens² and Deborah Winter³, ¹Northwestern University, Chicago, IL, ²Erasmus MC, Rotterdam, Netherlands, ³Northwestern University Division of Rheumatology, Chicago, IL
Background/Purpose: Macrophages fulfill critical functions in maintaining tissue homeostasis in steady-state, as well as in inflammation and immune response. In the joint synovium, we have…
Abstract Number: 0471 • ACR Convergence 2020
Splice Site Variants in IKBKG, Encoding NEMO, Detected by a Customized Analysis of Next-Generation Sequencing Data Cause an Early-onset Autoinflammatory Syndrome of Panniculitis and Cytopenias in Male and Female Patients
Adriana de Jesus¹, Sofia Torreggiani², Bin Lin², Jacob Mitchell², Eric Karlins³, Andrew Oler³, Sara Alehashemi⁴, Dana Kahle⁵, Katelin R. Honer², Gema Souto Adeva², Eric Hanson⁶, Gina Montealegre Sanchez⁷, Amer Khojah⁸, Timothy Moran⁹, Eveline Wu⁹, Chris Scott¹⁰, Timothy Ronan Leahy¹¹, Emma Jane MacDermott¹¹, Orla Killeen¹², Thaschawee Arkachaisri¹³, Zoran Gucev¹⁴, Kathryn Phillippi¹⁵, Vafa Mammadova¹⁶, Gulnara Nasrullayeva¹⁶ and Raphaela Goldbach-Mansky¹⁷, ¹Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Silver Spring, MD, ²Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, MD, ³Bioinformatics and Computational Biosciences Branch/NIAID/NIH, Bethesda, MD, ⁴Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Clarksville, MD, ⁵Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, ⁶Indiana University School of Medicine, Indianapolis, IN, ⁷NIAID/NIH, Rockville, MD, ⁸Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, ⁹UNC Chapel Hill, Chapel Hill, NC, ¹⁰University of Cape Town, Cape Town, South Africa, ¹¹Our Lady's Children's Hospital, Dublin, Ireland, ¹²National Centre for Paediatric Rheumatology, CHI at Crumlin, Dublin, Ireland, ¹³Duke-NUS Medical School, Singapore, Singapore, ¹⁴University Children's Hospital, Medical Faculty Skopje, Skopje, Macedonia, ¹⁵Akron Children’s Hospital, Akron, OH, ¹⁶Azerbaijan Medical University, Baku, Azerbaijan, ¹⁷Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Potomac, MD
Background/Purpose: The Inhibitor of Kappa-B Kinase Regulatory Subunit Gamma (IKBKG) is located on the X chromosome and encodes the NF-κB essential modulator (NEMO). Loss-of-function mutations…
Abstract Number: 0495 • ACR Convergence 2020
Epstein Barr Virus (EBV), an Etiologic Factor for Systemic Lupus Erythematosus (SLE), Interacts with SLE Risk Loci Through EBV-encoded Transcription Co-factors (co-TFs)
Viktoryia Laurynenka¹, Xiaoting Chen¹, Sreeja Parameswaran¹, Shruti Eswar², Kenneth Kaufman³, Bahram Namjou⁴, Matthew Weirauch⁵, Leah Kottyan⁴ and John Harley⁶, ¹Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, ²Cincinnati Children’s Hospital Medical Center, Cincinnati, ³Cincinnati Children’s Hospital Medical Center;US Department of Veterans Affairs Medical Center, Cincinnati, OH, ⁴Cincinnati Children’s Hospital Medical Center/Univ of Cincinnati, Cincinnati, OH, ⁵Cincinnati Children’s Hospital Medical Center/Univ of Cincinnati, 535 Terrace Ave, ⁶Cincinnati Children's Hospital Medical Center/Univ of Cincinnati College of Medicine, Cincinnati, OH
Background/Purpose: SLE affects millions worldwide. The etiology of this complex autoimmune disease is the consequence of both strong genetic and environmental components. Genome-wide association studies…
Abstract Number: 007 • 2020 Pediatric Rheumatology Symposium
Dense Genotyping of Immunologic Loci Identifies CXCR4 as a Novel Susceptibility Locus for Systemic Juvenile Idiopathic Arthritis
Emily Shuldiner ¹, Elaine Remmers ², Miranda Marion ³, Marc Sudman ⁴, Colleen Satorius ⁵, International Childhood Arthritis Genetics Consortium (INCHARGE), Juvenile Arthritis Consortium for the Immunochip (JACI), Wendy Thomson ⁶, Michael Ombrello¹, Patricia Woo ⁷, Carl Langefeld ⁸, Sampath Prahalad ⁹ and Susan Thompson ¹⁰, ¹NIAMS, NIH, Bethesda, ²National Human Genome Research Institute, Bethesda, ³Wake Forest University, Winston-Salem, ⁴Cincinnati Children's Hospital Medical Center, Cincinnati, ⁵NHGRI, NIH, Bethesda, ⁶Manchester Academic Health Science Centre, Manchester, United Kingdom, ⁷London, United Kingdom, ⁸Winston Salem, ⁹Emory + Children's Pediatric Institute, Atlanta, ¹⁰Cincinnati Children's Hospital Medical Center/Univ of Cincinnati College of Medicine, Cincinnati
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a severe, potentially lethal inflammatory condition. It accounts for a disproportionate share of morbidity and mortality among childhood…
Abstract Number: 55 • 2019 ACR/ARP Annual Meeting
A Novel Subclass of Intravascular Non-classical, Tissue Resident Synovial Monocyte Is Critical for Rheumatoid Arthritis Pathogenesis
Anna Montgomery ¹, Shang-Yang Chen ¹, Deborah Winter ² and Harris Perlman², ¹Northwestern University, Chicago, ²Northwestern University Feinberg School of Medicine, Division of Rheumatology, Chicago
Background/Purpose: There are at least three populations of circulating monocytes; classical, intermediate and non-classical. We demonstrated that circulating non-classical monocytes are required for the effector…
Abstract Number: 1018 • 2019 ACR/ARP Annual Meeting
Renal Single Cell Genomics Links Type II Interferon and Lupus Nephritis in African-Americans
Andrea Fava¹, Yuji Zhang ², Jill Buyon ³, Chaim Putterman ⁴, Nir Hacohen ⁵, Arnon Arazi ⁵, Celine Berthier ⁶, Deepak Rao ⁷, Michael Brenner ⁸, David Wofsy ⁹, Anne Davidson ¹⁰, Mathias Kretzler ¹¹, David Hildeman ¹², E. Steve Woodle ¹², Betty Diamond ¹⁰, Thomas Tuschl ¹³, Evan Der ¹⁴, Hemant Suryawanshi ¹³, H. Michael Belmont ¹⁵, Peter Izmirly ¹⁶, Robert Clancy ¹⁶, The Accelerating Medicines Partnership ¹⁷ and Michelle Petri ¹⁸, ¹Johns Hopkins University, Baltimore, ²University of Maryland, Baltimore, ³NYU School of Medicine, New York, ⁴Albert Einstein College of Medicine, New York, NY, ⁵Broad Institute, Cambridge, ⁶University of Michigan, Ann Arbor, MI, ⁷Brigham and Women's Hospital, Boston, MA, ⁸Brigham and Women’s Hospital:, Boston, ⁹UCSF, San Francisco, ¹⁰Feinstein Institutes for Medical Research, Manhasset, ¹¹University of Michigan, Ann Arbor, ¹²University of Cincinnati, Cincinnati, ¹³Rockefeller Research Laboratories, New York, ¹⁴Albert Einstein College of Medicine, New York, ¹⁵New York University School of Medicine, Ney York, ¹⁶New York University School of Medicine, New York, ¹⁷Multiple Organizations, USA, ¹⁸Johns Hopkins University School of Medicine, Baltimore, MD
Background/Purpose: Compared to Caucasian, African-American ethnicity is associated with a higher risk of developing systemic lupus erythematosus, lupus nephritis, high-risk histological features, resistance to treatment,…
Abstract Number: 1039 • 2019 ACR/ARP Annual Meeting
Molecular Profiling Identifies Immunologic Subgroups and Informs Mechanism of Action of Baricitinib in SLE
Thomas Dörner¹, Yoshiya Tanaka ², Michelle Petri ³, Josef Smolen ⁴, Daniel Wallace ⁵, Ernst Dow ⁶, Damiano Fantini ⁶, Richard Higgs ⁶, Guilherme Rocha ⁶, Brenda Crowe ⁶, Robert Benschop ⁶, Adam Abel ⁶, Nicole Byers ⁶, Maria Silk ⁶, Stephanie de Bono ⁶ and Robert Hoffman ⁶, ¹Charite Universitätsmedizin Berlin and DRFZ, Berlin, Germany, ²University of Occupational and Environmental Health Japan, Kitakyushu, Japan, ³Johns Hopkins University School of Medicine, Baltimore, MD, ⁴Medical University of Vienna, Vienna, Austria, ⁵Cedars-Sinai Medical Center/University California at Los Angeles, Los Angeles, CA, ⁶Eli Lilly and Company, Indianapolis, IN
Background/Purpose: Baricitinib is an oral selective Janus kinase (JAK) 1 and JAK2 inhibitor. In the Phase II, 24-week, randomized, placebo-controlled, double-blind study JAHH (NCT02708095), once-daily…
Abstract Number: 1041 • 2019 ACR/ARP Annual Meeting
Computational Methods for Drug Repositioning of Systemic Sclerosis Using Gene Fold-Change and Network Analyses
Dillon Popovich¹, Michael Whitfield ², Yue Wang ³, Guoshuai Cai ⁴ and Mengqi Huang ⁵, ¹Geisel School of Medicine at Dartmouth College, Hanover, ²Geisel School of Medicine at Dartmouth College, Biomedical Data Science at Dartmouth College, Hanover, ³Geisel School of Medicine at Dartmouth, Hanover, NH, ⁴Arnold school of Public Health, University of South Carolina, Columbia, SC, ⁵Geisel School of Medicine at Dartmouth College, Hanover, NH
Background/Purpose: Clinical trials with systemic sclerosis (SSc) patients have yet to lead to an FDA approved treatment. We have adopted a gene fold-change analysis called…
Abstract Number: 2012 • 2019 ACR/ARP Annual Meeting
A Composite IFN-Based Signature Is Associated with a Filgotinib-Specific Clinical Response in bDMARD-Experienced Rheumatoid Arthritis Patients
Peter Taylor¹, Bryan Downie ², Emon Elboudwarej ³, Rachael Hawtin ³, Amer M. Mirza ³ and Jinfeng Liu ³, ¹University of Oxford, Oxford, United Kingdom, ²Gilead Sciences, Inc., Foster Citty, CA, ³Gilead Sciences, Inc., Foster City, CA
Background/Purpose: Filgotinib (FIL), an oral, selective, Janus Kinase 1 (JAK1) inhibitor was effective in Phase 3 studies of active RA in patients (pts) with inadequate…
Abstract Number: 1962 • 2018 ACR/ARHP Annual Meeting
HLA Contributions to Risk and Protection for Anti-Centromere Autoantibody-Positive Scleroderma
Elaine F. Remmers¹, Theresa Alexander², Nadia D. Morgan³, Ami A. Shah⁴, Maureen D. Mayes⁵, Adebowale Adeyemo¹, Ayo Doumatey¹, Amy Bentley¹, Daniel Shriner⁶, Settara C Chandrasekharappa¹, Mary A. Carns⁷, Lorinda Chung⁸, Lindsey A. Criswell⁹, Chris T. Derk¹⁰, Robyn T. Domsic¹¹, Heather Gladue¹², Avram Goldberg¹³, Jessica K. Gordon¹⁴, Vivien Hsu¹⁵, Reem Jan¹⁶, Dinesh Khanna¹⁷, Thomas A. Medsger Jr.¹⁸, Paula S. Ramos¹⁹, Marcin A. Trojanowski²⁰, Lesley Ann Saketkoo²¹, Elena Schiopu²², Victoria Shanmugam²³, Benjamin D. Korman²⁴, Brynn Kron⁹, S. Louis Bridges Jr.²⁵, Kathleen D. Kolstad²⁶, Elana J. Bernstein²⁷, Suzanne Kafaja²⁸, Kathleen Maksimowicz-McKinnon²⁹, Rick Silver³⁰, Virginia D. Steen³¹, John Varga³², Charles Rotimi¹, Francesco Boin³³, Fredrick M. Wigley³⁴, Daniel L. Kastner³⁵ and Pravitt Gourh³⁶, ¹National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ²National Institutes of Health, Bethesda, MD, ³Rheumatology, Johns Hopkins University School of Medicine, Baltimore, MD, ⁴Division of Rheumatology, Johns Hopkins University School of Medicine, Baltimore, MD, ⁵Rheumatology, University of Texas McGovern Medical School, Houston, TX, ⁶National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, ⁷Northwestern University, Feinberg School of Medicine Scleroderma Program, Chicago, IL, ⁸Immunology and Rheumatology, Stanford University School of Medicine, Palo Alto, CA, ⁹University of California San Francisco, San Francisco, CA, ¹⁰Rheumatology, University of Pennsylvania, Philadelphia, PA, ¹¹Medicine - Rheumatology, University of Pittsburgh, Pittsburgh, PA, ¹²Rheumatology, Arthritis and Osteoporosis Consultants of the Carolinas, Charlotte, NC, ¹³NYU Langone Medical Center, New York, NY, ¹⁴Rheumatology, Hospital for Special Surgery, New York, NY, ¹⁵Rheumatology, Robert Wood Johnson University Scleroderma Program, New Brunswick, NJ, ¹⁶Medicine, Rheumatology, University of Chicago, Chicago, IL, ¹⁷Division of Rheumatology, Department of Internal Medicine, University of Michigan Scleroderma Program, University of Michigan, Ann Arbor, MI, ¹⁸University of Pittsburgh, Pittsburgh, PA, ¹⁹Department of Public Health Sciences, Medical University of South Carolina, Charleston, SC, ²⁰Boston University School of Medicine, Boston, MA, ²¹Rheumatology, Tulane University School of Medicine, New Orleans, LA, ²²University of Michigan, Ann Arbor, MI, ²³Rheumatology, The George Washington University, Washington, DC, ²⁴Division of Allergy/Immunology and Rheumatology and Center for Musculoskeletal Research, School of Medicine and Dentistry, University of Rochester Medical School, Rochester, New York, USA, Rochester, NY, ²⁵Clinical Immunology & Rheum, Univ of Alabama, Birmingham, AL, ²⁶Rheumatology, Stanford University Medical Center, Stanford, CA, ²⁷Rheumatology, Columbia University, New York, NY, ²⁸David Geffen School of Medicine, UCLA, Los Angeles, CA, ²⁹Rheumatology, Henry Ford Hospital, Detroit, MI, ³⁰Rheumatology, Medical University of SC, Charleston, SC, ³¹Rheumatology, MedStar Georgetown University Hospital, Washington, DC, ³²Northwestern University, Chicago, IL, ³³Rheumatology, University California, San Francisco, San Francisco, CA, ³⁴Rheum Div/Mason F Lord, Johns Hopkins University, Baltimore, MD, ³⁵Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ³⁶Rheumatology, NIAMS, National Institutes of Health, Bethesda, MD
Background/Purpose: Anti-nuclear autoantibodies are a hallmark of scleroderma with anti-centromere antibody (ACA) recognizing centromeric antigens. ACA-positive patients have longstanding Raynaud’s, limited cutaneous disease and increased…
Abstract Number: 1966 • 2018 ACR/ARHP Annual Meeting
Transcriptome and Methylome Integrative Molecular Analysis Uncovers a New Systemic Autoimmune Disease Classification
Guillermo Barturen¹, Sepideh Babaei², Francesc Catala-Moll³, Zuzanna Makowska², Antonio García-Gómez³, Anne Buttgereit⁴, Elena Carnero-Montoro¹, Sikander Hayat⁴, Martin Kerick⁵, Thomas Charlon⁶, David C Gemperline⁷, Lucas Le Lann⁸, Rosa Quirantes-PIné⁹, Isabel Borrás-Linares¹⁰, Brian Muchmore¹, Jorge Kageyama⁴, Javier Rodríguez-Ubreva³, Alvaro Fernández-Ochoa⁹, Pedro Carmona Sanz¹¹, Christophe Jamin⁸, Ralf Lesche², Robert J. Benschop⁷, Chris Chamberlain¹², Ernst R. Dow⁷, Tania Gomes¹, Maria Juárez¹³, Laurence Laigle¹⁴, Jacqueline Marovac¹², Fiona MacDonald¹⁵, Jerome Wojcik⁶, Esteban Ballestar¹⁶, Lorenzo Beretta¹⁷, Maria Orietta Borghi¹⁸, Johan Frostegård¹⁹, Maria Luisa Garcia²⁰, Javier Martín⁵, Jacques-Olivier Pers⁸, Yves Renadineau²¹, Antonio Segura Carretero⁹ and Marta Alarcón-Riquelme^1,19, ¹Medical Genomics, Center for Genomics and Oncological Research (GENYO), Granada, Spain, ²Pharmaceuticals Division, Bayer Pharma Aktiengesellschaft, Berlin, Germany, ³Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain, ⁴Bayer Pharma Aktiengesellschaft, Berlin, Germany, ⁵Institute of Parasitology and Biomedicine López Neyra, Spanish National Research Council, Granada, Spain, ⁶QuartzBIO, SA, Geneva, Switzerland, ⁷Eli Lilly and Company, Indianapolis, IN, ⁸U1227, Université de Brest, Inserm, Labex IGO, CHU de Brest, Brest, France, ⁹Department of Analytical Chemistry, University of Granada, Granada, Spain, ¹⁰Analytical Chemistry, University of Granada, Granada, Spain, ¹¹Unit of Bioinformatics, Center for Genomics and Oncological Research (GENYO), Pfizer-University of Granada-Andalusian Regional Government, Health Sciences Technology Park, Granada, Spain, ¹²UCB Pharma, Slough, United Kingdom, ¹³UCB, Slough, United Kingdom, ¹⁴Institut de Recherches Internationales Servier, Suresnes, France, ¹⁵Bayer Pharma G, Berlin, Germany, ¹⁶Cancer Epigenetics and Biology Programme (PEBC), Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain, ¹⁷Scleroderma Unit, Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy, ¹⁸University of Milan, IRCCS Istituto Auxologico Italiano, Milan, Italy, ¹⁹Unit for Chronic Inflammatory Diseases, Institute for Environmental Medicine, Karolinska Institutet, Stockholm, Sweden, ²⁰Nano-Imaging, BIONAND. Centro Andaluz de Nanotecnología y Biomedicina, Malaga, Spain, ²¹U1227, Université de Brest, inserm, Labex IGO, CHU de brest, Brest, France
Background/Purpose: Systemic autoimmune diseases (SADs) are chronic inflammatory conditions with autoimmune aetiology and many common clinical features, difficulting diagnosis and adequate treatment decisions. Finding new…
Abstract Number: 1980 • 2018 ACR/ARHP Annual Meeting
Comprehensive Association Analysis between Rare and Common ABCG2 Variants and Gout Susceptibility
Hirotaka Matsuo¹, Toshihide Higashino¹, Tappei Takada², Hirofumi Nakaoka³, Yu Toyoda⁴, Blanka Stiburkova⁵, Hiroshi Nakashima⁶, Seiko Shimizu¹, Makoto Kawaguchi⁷, Akiyoshi Nakayama⁸, Yuka Aoki¹, Misaki Ishino¹, Yusuke Kawamura¹, Kenji Wakai⁹, Rieko Okada¹⁰, Tatsuo Hosoya¹¹, Kimiyoshi Ichida¹², Hiroshi Ooyama¹³, Hiroshi Suzuki², Ituro Inoue³, Tanya J. Major¹⁴, Tony R. Merriman¹⁴ and Nariyoshi Shinomiya¹, ¹Department of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Tokorozawa, Japan, ²Department of Pharmacy, The University of Tokyo Hospital, Faculty of Medicine, The University of Tokyo, Tokyo, Japan, ³Division of Human Genetics, Department of Integrated Genetics, National Institute of Genetics, Mishima, Japan, ⁴Department of Pharmacy, The University of Tokyo Hospital, Faculty of Medicine,, The University of Tokyo, Tokyo, Japan, ⁵Department of Pediatrics and Adolescent Medicine, Charles University and General University Hospital in Prague, First Faculty of Medicine, Prague, Czech Republic, ⁶Department of Preventive Medicine and Public Health, National Defense Medical College, Tokorozawa, Japan, ⁷National Defense Medical College, Tokorozawa, Japan, ⁸Dept Integrative Physiol, National Defense Medical College, Tokorozawa, Japan, ⁹Nagoya University Graduate School of Medicine, Nagoya, Japan, ¹⁰Department of Preventive Medicine, Nagoya University Graduate School of Medicine, Nagoya, Japan, ¹¹Division of Kidney and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Tokyo, Japan, ¹²Department of Pathophysiology, Tokyo University of Pharmacy and Life Sciences, Tokyo, Japan, ¹³Ryougoku East Gate Clinic, Tokyo, Japan, ¹⁴University of Otago, Dunedin, New Zealand
Background/Purpose: We have reported that ABCG2 has an important role in both renal and intestinal urate excretion and these common variants as rs72552713 (Q126X) and…
Abstract Number: 579 • 2018 ACR/ARHP Annual Meeting
Changes in DNA Methylation Identify Response to Treatment with Methotrexate and TNF Inhibitors Among RA Patients
Cameron Adams¹, Katie Marker¹, Melissa Krueger², Lisa Barcellos¹ and Lindsey A. Criswell³, ¹School of Public Health, UC Berkeley, Berkeley, CA, ²UC San Francisco, San Francisco,, CA, ³University of California San Francisco, San Francisco, CA
Background/Purpose: Epigenetic modifications including DNA methylation are implicated in the development and progression of autoimmune diseases, such as rheumatoid arthritis [MIM 180300]. Evidence indicates that…
Abstract Number: 1059 • 2018 ACR/ARHP Annual Meeting
Differentially-Utilized Transcription Factors and Enhancers in Rheumatoid Arthritis (RA) Fibroblast-like Synoviocytes
Jonathan Mills¹, Gary S. Firestein² and Brian Pedersen², ¹Rheumatology, University of California, San Diego, San Diego, CA, ²Medicine, University of California San Diego, La Jolla, CA
Background/Purpose: RA fibroblast-like synoviocytes (FLS) display a unique aggressive phenotype with a distinct epigenetic profile marked by altered chromatin accessibility. We hypothesized that differentially utilized…

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