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Abstracts tagged "genetics"

  • Abstract Number: 1751 • 2017 ACR/ARHP Annual Meeting

    Association of a TNFSF4 Upstream Region Single Nucleotide Polymorphism with Susceptibility to Proteinase 3-ANCA Positive Vasculitis in a Japanese Population

    Yuka Iwahashi1, Aya Kawasaki1, Fumio Hirano2, Ken-ei Sada3, Daisuke Tsukui4, Yuya Kondo5, Shigeto Kobayashi6, Hidehiro Yamada7, Hiroshi Furukawa1, Kenji Nagasaka8, Takahiko Sugihara9, Kunihiro Yamagata10, Takayuki Sumida5, Shigeto Tohma11, Hajime Kono4, Shoichi Ozaki7, Seiichi Matsuo12, Hiroshi Hashimoto13, Hirofumi Makino14, Yoshihiro Arimura15, Masayoshi Harigai16 and Naoyuki Tsuchiya1, 1Molecular and Genetic Epidemiology Laboratory, University of Tsukuba, Faculty of Medicine, Tsukuba, Japan, 2Departments of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan, 3Department of Nephrology, Rheumatology, Endocrinology and Metabolism, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan, 4Department of Internal Medicine, Teikyo University School of Medicine, Tokyo, Japan, 5Department of Internal Medicine, University of Tsukuba, Faculty of Medicine, Tsukuba, Japan, 6Department of Internal Medicine, Juntendo University Koshigaya Hospital, Koshigaya, Japan, 7Department of Internal Medicine, St. Marianna University School of Medicine, Kawasaki, Japan, 8Department of Rheumatology, Ome Municipal General Hospital, Ome, Japan, 9Department of Medicine and Rheumatology, Tokyo Metropolitan Geriatric Hospital, Tokyo, Japan, 10Department of Nephrology, University of Tsukuba, Faculty of Medicine, Tsukuba, Japan, 11Clinical Research Center for Allergy and Rheumatology, Sagamihara Hospital, National Hospital Organization, Sagamihara, Japan, 12Department of Nephrology, Nagoya University Graduate School of Medicine, Nagoya, Japan, 13Juntendo University School of Medicine, Tokyo, Japan, 14Okayama University Hospital, Okayama, Japan, 15First Department of Internal Medicine, Kyorin University School of Medicine, Tokyo, Japan, 16Division of Epidemiology and Pharmacoepidemiology of Rheumatic Diseases, Institute of Rheumatology, Tokyo Women's Medical University, Tokyo, Japan

    Background/Purpose: In the epidemiology of ANCA-associated vasculitis (AAV), an obvious difference between European and Asian populations has been reported. According to the clinical classification, granulomatosis…
  • Abstract Number: 68 • 2017 Pediatric Rheumatology Symposium

    HLA-DRB1 in Non-Hispanic African American Children with Juvenile Idiopathic Arthritis and Chronic Anterior Uveitis

    Lai Hin Kimi Chan1, Courtney McCracken1, Kirsten Jenkins2, Steven Yeh3, Purnima Patel4, Sampath Prahalad1 and Sheila Angeles-Han5, 1Pediatrics, Emory University School of Medicine, Atlanta, GA, 2Children's Healthcare of Atlanta, Atlanta, GA, 3Ophthalmology, Emory University School of Medicine, Atlanta, GA, 4Emory University School of Medicine, Atlanta, GA, 5Department of Pediatrics, Cincinnati Children's Hospital, Cincinnati, OH

    Background/Purpose: HLA-DRB1*08, 11 and 13 are strong risk alleles for various juvenile idiopathic arthritis (JIA) subtypes. We reported that carriage of DRB1*11 and *13 increased…
  • Abstract Number: 57 • 2016 ACR/ARHP Annual Meeting

    Genetic Polymorphism of IL-1RN Encoding the IL-1 Receptor Antagonist Predicts Radiographic Severity of Symptomatic Knee OA

    Mukundan Attur1, Sisi Ma2, Jonathan Samuels3, Svetlana Krasnokutsky Samuels4, Hua Zhou2, Jenny Bencardino5, Marc C. Hochberg6, Braxton Mitchell7, Virginia B. Kraus8, Joanne M. Jordan9 and Steven B. Abramson10, 1Rheumatology Research, NYU - Hospital for Joint Diseases, New York, NY, 2Bioinformatics, New York University, New York, NY, 3Rheumatology, NYU - Hospital for Joint Diseases, New York, NY, 4Medicine/Rheumatology, NYU School of Medicine/NYU Hospital for Joint Diseases, New York, NY, 5Radiology, NYU Langone Medical Center, New York, NY, 6University of Maryland School of Medicine, Baltimore, MD, USA, Baltimore, MD, 7Departments of Medicine and Epidemiology & Public Health, University of Maryland School of Medicine, Baltimore, MD, 8Department of Medicine, Duke University Medical Center, Durham, NC, 9Thurston Arthritis Research Center, University of North CArolina at Chapel Hill, Chapel Hill, NC, 10Dept of Rheumatology/Medicine, Hosp for Joint Diseases/NYU, New York, NY

    Background/Purpose: Growing numbers of studies show increased expression in Osteoarthritis (OA) of inflammatory cytokines, such as IL-1β and TNFα, in joint tissues and peripheral blood…
  • Abstract Number: 465 • 2016 ACR/ARHP Annual Meeting

    Genetic and Metabolic Signatures of Purified Synovial Macrophage Subsets during an Acute Murine Model of Inflammatory Arthritis

    Philip J. Homan1, Harris R. Perlman2 and Carla Cuda3, 1Medicine-Rheumatology, Northwestern University, Chicago, IL, 2Department of Medicine, Division of Rheumatology, Northwestern University Feinberg School of Medicine, Northwestern University, Chicago, IL, 3Northwestern University, Chicago, IL

    Background/Purpose: Rheumatoid arthritis (RA) manifests in persistent synovial inflammation, cellular infiltration and pro-inflammatory cytokine production, and results in progressive joint destruction. Macrophages have been implicated in…
  • Abstract Number: 3162 • 2016 ACR/ARHP Annual Meeting

    Symmetric and Asymmetric Sacroiliitis Are Associated with Different Major Histocompatibility Class I Alleles in Psoriatic Arthritis

    Jon T. Giles1, Muhammad Haroon2, Deepak R. Jadon3, Raj Sengupta4, Alison L Nightingale5, Eleanor Korendowych3, Jing Bi6, Neil J. McHugh3, Oliver FitzGerald7 and Robert Winchester6, 1Division of Rheumatology, Columbia University, College of Physicians & Surgeons, New York, NY, 2Rheumatology, Kerry General Hospital, Co Kerry, Ireland, 3Rheumatology, Royal National Hospital for Rheumatic Diseases, Bath, United Kingdom, 4Rheumatology, Royal National Hospital for Rheumatic Diseases,, Bath, United Kingdom, 5Pharmacy and Pharmacology, University of Bath, Bath, United Kingdom, 6Rheumatology, Columbia University, College of Physicians & Surgeons, New York, NY, 7St. Vincent's University Hospital, Department of Rheumatology, Dublin, Ireland

    Background/Purpose: HLA-B27 has been linked to sacroiliitis (SII) in psoriatic arthritis (PsA); however, the contribution to SII of other human leukocyte antigen (HLA) Class I…
  • Abstract Number: 488 • 2016 ACR/ARHP Annual Meeting

    Exploring the Association Between Air Pollutant Exposure and Seropositivity in Rheumatoid Arthritis

    Asha Mariam Alex1,2, Gary A. Kunkel3, Jorge Flautero Arcos4, Richard Amdur5 and Gail S. Kerr6, 1Rheumatology, Veterans Affairs Medical Center, Washington, DC, 2Rheumatology, Georgetown University Hospital, Washington, DC, 3Division of Rheumatology, George Wahlen VA Medical Center/University of Utah, Salt Lake City, UT, 4Rheumatology, Howard University Hospital, Washington, DC, 5Lead Biostatistician, Medical Faculty Associates Clinical Professor, Dept. of Surgery, George Washington University School of Medicine & Health Sciences, Washington, DC, 6Washington DC VAMC, Georgetown University Hospital, Howard University Hospital, Washington, DC

    Background/Purpose: The etiology of rheumatoid arthritis (RA) is multi-factorial, with expression of HLA-DRB1 shared epitope (SE), smoking and socioeconomic status (SES) exerting influence. Prior studies…
  • Abstract Number: 985 • 2016 ACR/ARHP Annual Meeting

    Effectiveness of a Web-Based Personalized Rheumatoid Arthritis Risk Tool with or without a Health Educator for Knowledge of RA Risk Factors

    Maria G. Prado1, Rachel Miller Kroouze1, Zhi Yu1, Maura D. Iversen2,3,4, Nellie A. Triedman1, Sarah S. Kalia5, Kevin D. Deane6, Karen H. Costenbader1, Bing Lu1, Robert C. Green5, Elizabeth W. Karlson1 and Jeffrey A. Sparks7, 1Rheumatology, Immunology and Allergy, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 2Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden, 3Physical Therapy, Movement and Rehabilitation Sciences, Northeastern University, Boston, MA, 4Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 5Division of Genetics, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 6Division of Rheumatology, University of Colorado School of Medicine, Aurora, CO, 7Rheumatology, Immunology, and Allergy, Brigham and Women's Hospital and Harvard Medical School, Boston, MA

    Background/Purpose: Much progress has been made in identifying risk factors for RA, but it is unclear whether individuals at risk for RA have knowledge of…
  • Abstract Number: 1211 • 2016 ACR/ARHP Annual Meeting

    Allele-Dependent Binding of a Viral Protein to Autoimmune Disease-Associated Genetic Variants

    Matthew T. Weirauch1, Daniel Miller1, Leah C. Kottyan2, Ignacio Ibarra3, Sayeed Syed4, Xiaoting Chen1, Erin Zoller1, Arthur Lynch1, Connor Schroeder1, Josh Lee1, Albert Magnussen1, Ally Yang5, Timothy R. Hughes5, Joo-Seop Park1, Charles Vinson4 and John B. Harley6,7, 1Cincinnati Childrens Hospital, Cincinnati, OH, 2Center for Autoimmune Genomics and Etiology, Cincinnati Childrens Hospital, Cincinnati, OH, 3EMBL, Heidelberg, Germany, 4NCI, Bethesda, MD, 5University of Toronto, Toronto, ON, Canada, 6US Department of Veterans Affairs Medical Center, Cincinnati, OH, 7Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Childrens Hospital, Cincinnati, OH

    Methods: We tested the hypothesis that some autoimmune variants might act by altering the binding of the EBV-encoded transcription factor ZTA, consequently resulting in downstream…
  • Abstract Number: 1559 • 2016 ACR/ARHP Annual Meeting

    Shared Genetic Predisposition in Rheumatoid Arthritis–Interstitial Lung Disease and Idiopathic Pulmonary Fibrosis: A Genetic Association Study

    Pierre-Antoine Juge1, Raphaël Borie2, Caroline Kannengiesser3, Steven Gazal3, Patrick Revy4, Lidwine Wemeau-Stervinou5, Marie-Pierre Debray6, Sébastien Ottaviani7, Sylvain Adam-Marchand8, Nadia Nathan9, Gabriel Thabut10, Christophe Richez11, Hilario Nunes12, Isabelle Callebaut13, Aurélien Justet2, Nicolas Leulliot14, Amélie Bonnefond15, David Salgado16, Pascal Richette17, Jean-Pierre Desvignes16, Huguette Lioté18, Philippe Froguel15, Yannick Allanore19, Olivier Sand15, Claire Dromer20, René-Marc Flipo21, Annick Clément9, Christophe Béroud22, Jean Sibilia23, Baptiste Coustet1,24, Vincent Cottin25, Marie-Christophe Boissier26, Benoit Wallaert27, Thierry Schaeverbeke28, Florence Dasto le Moal29, Aline Frazier17, Christelle Ménard30, Martin Soubrier31, Nathalie Saidenberg29, Dominique Valeyre32, Serge Amselem9, Catherine Boileau3, Bruno Crestani2 and Philippe Dieudé1, 1Rhumatologie, Hôpital Bichat - Claude Bernard, Paris, France, 2Pneumologie A, Hôpital Bichat - Claude Bernard, Paris, France, 3Génétique, Hôpital Bichat - Claude Bernard, Paris, France, 4Laboratory of Genome Dynamics in the Immune System, Institut Imagine, Paris, France, 5Pneumologie, CHRU de Lille, Lille, France, 6Université Paris-Diderot, Paris, France, 7Rheumatologie, Hôpital Bichat - Claude Bernard, Paris, France, 8Pneumology, Centre Hospitalier Universitaire de Tours, Tours, France, 9Pneumologie pédiatrique, Hôpital Trousseau, Paris, France, 10Pneumologie B, Hôpital Bichat - Claude Bernard, Paris, France, 11Rhumatologie, Department of Rheumatology, Bordeaux University Hospital, Bordeaux, France, 12Pneumologie B, Hôpital Avicenne, Paris, France, 13CNRS UMR_7590, Paris, France, 14Laboratoire de cristallographie et RMN biologiques, UMR CNRS 8015, Paris, France, 15CNRS UMR_8199, Lille, France, 16UMR_S 910, Marseille, France, 17Rhumatologie, Hôpital Lariboisière, Paris, France, 18Pneumologie A, Hôpital Tenon, Paris, France, 19Rhumatologie A, Hôpital Cochin, Paris, France, 20Imagerie Thoracique et Cardiovasculaire, CHU Bordeaux, Bordeaux, France, 21Rhumatologie, CHU Lille, Lille, France, 22INSERM UMR_S 910, Marseille, France, 23Department of Rheumatology, Strasbourg University Hospital, Strasbourg, France, 24Rheumatology, Université Paris Descartes, Hopital Cochin, Paris, France, 25Louis Pradel Hospital, Claude Bernard University Lyon 1, Lyon, France, 26Li2P, University of Paris 13, Sorbonne Paris Cité, Bobigny, France, 27Pneumology, CHRU, Lille CEDEX, France, 28Rheumatology, CHU Bordeaux, Bordeaux, France, 29Rhumatologie, Hôpital Avicenne, Paris, France, 30Pneumologie Pédiatrique, Hôpital Trousseau, Paris, France, 31Rheumatology, Department of Rheumatology, CHU Gabriel Montpied, Clermont-Ferrand, France, 32Department of Pneumology, Avicenne Hospital (AP-HP), Bobigny, France

    Background/Purpose: Interstitial lung disease (ILD) is one of the leading causes of mortality for rheumatoid arthritis (RA) patients. Despite its high prevalence and mortality, little…
  • Abstract Number: 1573 • 2016 ACR/ARHP Annual Meeting

    Major Histocompatibility Antigen HLA-DQ6.1 (DQA1*0103/DQB1*0601) Increases Rheumatoid Arthritis Risk Independent of Shared Epitope Among Indians

    Able Lawrence1, Swayam Prakash2, Uddalak Bharadwaj3, Amita Aggarwal4, Ramnath Misra4 and Suraksha Agrawal2, 1Clinical Immunology, SGPGIMS, Lucknow, India, 2Medical Genetics, SGPGIMS, Lucknow, India, 3MD Anderson Cancer Center, Houston, TX, 4Clinical Immunology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

    Background/Purpose: The association of HLA-DRB1 shared epitope (SE) with rheumatoid arthritis (RA) does not completely explain MHC association. The HLA-DRB1 alleles are classified into high…
  • Abstract Number: 2032 • 2016 ACR/ARHP Annual Meeting

    Genome-Wide Association Analysis Reveals Novel Juvenile Idiopathic Arthritis Susceptibility Loci

    Laura A McIntosh1, Miranda C Marion2, Marc Sudman1, Mary E Comeau2, Sampath Prahalad3, John F. Bohnsack4, Johannes P Haas5, Carol A Wallace6, Daniel J Lovell7, Thomas A Griffin8, Mara L Becker9, Peter A Nigrovic10,11, Marilynn Punaro12, Carlos D Rosé13, Carol A Wise14, Halima Moncrieffe15, Timothy D Howard16, Carl D Langefeld17, Susan D Thompson15,18 and Boston Children’s JIA Registry, JIA gene expression studies, NIAMS JIA genetic registry, TREAT study, Understanding TNF Therapy in JIA Project, 1Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 2Biostatistical Sciences and Center for Public Health Genomics, Wake Forest University School of Medicine, Winston-Salem, NC, 3Pediatrics, Emory Children's Center, Atlanta, GA, 4Division of Allergy, Immunology and Pediatric Rheumatology, University of Utah, Salt Lake City, UT, 5German Centre for Rheumatology in Children and Young People, Garmisch-Partenkirchen, Germany, 6Pediatrics, Seattle Children's Hospital, Seattle, WA, 7Rheumatology, PRCSG Cincinnati Children's Hospital Medical Center, Cinncinnati, OH, 8Levine Children’s Hospital at Carolinas Medical Center, Charlotte, NC, 9Rheumatology, Children's Mercy Kansas City, Kansas City, MO, 10Rheumatology, Immunology, and Allergy, Brigham and Women’s Hospital, Boston, MA, 11Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, 12Pediatric Rheumatology, Texas Scottish Rite Hospital for Children, Dallas, TX, 13Pediatrics, Division of Rheumatology, Nemours/A.I. duPont Hospital for Children, Thomas Jefferson University, Wilmington, DE, 14Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, TX, 15Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 16Center for Genomics and Personalized Medicine Research, Wake Forest University School of Medicine, Winston-Salem, NC, 17Biostatistical Sciences, Wake Forest University School of Medicine, Winston-Salem, NC, 18Center for Autoimmune Disease Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH

    Background/Purpose: Juvenile idiopathic arthritis (JIA) is the most common childhood rheumatic disease, affecting approximately 1 in 1,000 children. JIA is a complex genetic trait and…
  • Abstract Number: 2033 • 2016 ACR/ARHP Annual Meeting

    A Multi-Dimensional Genomic Map for Polyarticular Juvenile Idiopathic Arthritis

    James Jarvis1, Lisha Zhu2, Kaiyu Jiang3, Michael Buck2, Yanmin Chen3, Halima Moncrieffe4, Laura Brungs4, Tao Liu5 and Ting Wang6, 1Pediatrics, SUNY Buffalo School of Medicine, Buffalo, NY, 2Biochemistry, University at Buffalo, Buffalo, NY, 3Pediatrics, University at Buffalo, Buffalo, NY, 4Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 5Department of Biochemistry, University at Buffalo, Buffalo, NY, 6Genetics, Washington University School of Medicine, St. Louis, MO

    Background/Purpose: Polyarticular juvenile idiopathic arthritis (JIA) is a complex trait characterized by gene-environment interactions. While we are beginning to identify multiple genomic regions associated with…
  • Abstract Number: 2035 • 2016 ACR/ARHP Annual Meeting

    Dosage Contribution of a Non-Classical HLA Gene, HLA-Doa, to the Risk of Rheumatoid Arthritis

    Yukinori Okada1, Akari Suzuki2, Katsunori Ikari3, Chikashi Terao4, Yuta Kochi2, Koichiro Ohmura5, Koichiro Higasa5, Masato Akiyama2, Kyoto Ashikawa2, Masahiro Kanai2, Jun Hirata1, Naomasa Suita1, Yik-Ying Teo6, Huji Xu7, Sang-Cheol Bae8, Yukihide Momozawa2, koichi Matsuda9, Shigeki Momohara10, Atsuo Taniguchi10, Ryo Yamada5, Tsuneyo Mimori5, Michiaki Kubo2, Matthew A. Brown11, Soumya Raychaudhuri12, Fumihiko Matsuda5, Hisashi Yamanaka10, Yoichiro Kamatani2 and Kazuhiko Yamamoto9, 1Osaka University, Osaka, Japan, 2Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan, 3Inst of Rheumatology, Tokyo Women's Medical University, Tokyo, Japan, 4Departments of Genetics and Rheumatology, Brigham and Women'’s Hospital, Harvard Medical School, Boston, MA, 5Kyoto University Graduate School of Medicine, Kyoto, Japan, 6Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore, Singapore, 7The Second Military Medical University, Shanghai, Japan, 8Hanyang University Hospital for Rheumatic Diseases, Seoul, Korea, The Republic of, 9The University of Tokyo, Tokyo, Japan, 10Tokyo Women's Medical University, Tokyo, Japan, 11The University of Queensland Diamantina Institute, Brisbane, Australia, 12Brigham and Women's Hospital, Boston, MA

    Background/Purpose: Despite the progress in human leukocyte antigen (HLA) causal variant mapping, independent localization of major histocompatibility complex (MHC) risk from classical HLA genes is…
  • Abstract Number: 2275 • 2016 ACR/ARHP Annual Meeting

    Genome-Wide Association Study of Gout in New Zealand Polynesian People

    Tanya Flynn1, Ruth Topless1, Murray Cadzow1, Amanda Phipps-Green1, Nick Burns1, Nicola Dalbeth2, Lisa K. Stamp3, Jennie Harre Hindmarsh4 and Tony R. Merriman5, 1University of Otago, Dunedin, New Zealand, 2University of Auckland, Auckland, New Zealand, 3University of Otago, Christchurch, New Zealand, 4Ngati Porou Hauora Charitable Trust, Te Puia Springs, New Zealand, 5Biochemistry Dept, PO Box 56, University of Otago, Dunedin, New Zealand

    Background/Purpose: The prevalence of gout in New Zealand Polynesian (Māori and Pacific) populations is approximately twice that of the New Zealand European population, with a…
  • Abstract Number: 2276 • 2016 ACR/ARHP Annual Meeting

    Pleiotropic Effect of ABCG2 in Gout

    Tony R. Merriman1, Amanda Phipps-Green2, James Boocock2, Philip Riches3, Anne-Kathrin Tausche4, Timothy Radstake5, Matthijs Janssen6, Leo .A.B. Joosten7, Tim L Jansen8, Alexander So9, Jennie Harre Hindmarsh10, Lisa K. Stamp11, Nicola Dalbeth12 and Rebekah Wrigley2, 1Biochemistry Dept, PO Box 56, University of Otago, Dunedin, New Zealand, 2University of Otago, Dunedin, New Zealand, 3University of Edinburgh, Edinburgh, United Kingdom, 4Medizinische Klinik und Poliklinik III, Universitätsklinikum Carl Gustav Carus an der Technischen Universität Dresden, Dresden, Germany, 5Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, 6Department of Rheumatology, Rijnstate Hospital Arnhem, Arnhem, Netherlands, 7Internal Medicine, Radboud University Medical Center, Nijmegen, Netherlands, 8Rheumatology, Radboud University Medical Center, Nijmegen, Netherlands, 9Rheumatology Department, Lausanne University Hospital, Switzerland, Lausanne, Switzerland, 10Ngati Porou Hauora Charitable Trust, Te Puia Springs, New Zealand, 11University of Otago, Christchurch, New Zealand, 12University of Auckland, Auckland, New Zealand

    Background/Purpose: The ABCG2 Q141K (rs2231142) variant is an established cause of hyperuricaemia in Europeans. Although the effect size of ABCG2 rs2231142 on serum urate levels…
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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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