Abstracts tagged "Autoinflammatory diseases"

Abstract Number: 0737 • ACR Convergence 2023
Unraveling Pathophysiology and Hematopoiesis of VEXAS Syndrome by Multi-omics Analysis and Targeted Gene Editing
Corrado Campochiaro¹, Raffaella Molteni², Martina Fiumara³, Alessandro Tomelleri⁴, Elisa Diral⁵, Davide Stefanoni², Angelica Varesi³, Alessandra Weber³, Roberta Alfieri⁶, Luisa Albano³, Maddalena Panigada², Eleonora Cantoni², Daniele Canarutto³, Luca Basso-Ricci³, Pamela Quaranta³, Angelo D’Alessandro⁷, marco Matucci Cerinic⁸, Raffaella Di Micco³, Serena Scala³, Alessandro Aiuti³, Fabio Ciceri⁵, Ivan Merelli³, Lorenzo Dagna⁹, Simone Cenci², Luigi Naldini³, Samuele Ferrari³ and Giulio Cavalli², ¹IRCCS San Raffaele Hospital, Unit of Immunology, Rheumatology, Allergy and Rare Disease. Vita-Salute San Raffaele University, Milan, Italy, ²Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy, ³San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute, Milan, Italy, ⁴Unit of Immunology, Rheumatology, Allergy and Rare Diseases, San Raffaele Scientific Institute, Milano, Italy, ⁵Unit of Haematology and Bone Marrow Transplantation, IRCCS San Raffaele Hospital, Milan, Italy, ⁶Institute for Biomedical Technologies, National Research Council, Segrate, Italy, ⁷Department of Biochemistry and Molecular Genetics, University of Colorado Denver - Anschutz Medical Campus, Aurora, CO, ⁸Unit of Immunology, Rheumatology, Allergy and Rare diseases, IRCCS San Raffaele Hospital, Milan, Milan, Italy, ⁹Department of Internal Medicine, IRCCS San Raffaele Hospital and Vita-Salute San Raffaele University, Milan, Italy
Background/Purpose: VEXAS syndrome is an adult-onset, X-linked, life-threatening, autoinflammatory and hematological disease caused by somatic mutation in UBA1 gene. To understand its pathophysiology, we aimed…
Abstract Number: 1360 • ACR Convergence 2023
Factors Associated with Medication-related Concerns in Women with Inflammatory Rheumatic Diseases – an Analysis of a Nationwide Pregnancy Cohort
Yvette Meissner¹, Bernhard Eickhoff¹, Cornelia Glaser², Joerg Henes³, Jutta Richter⁴, Susanna Spaethling-Mestekemper⁵, Christof Specker⁶, Rebecca Fischer-Betz⁴ and Anja Strangfeld¹, ¹German Rheumatism Research Center, Berlin, Germany, ²Department of Rheumatology and Clinical Immunology University Medical Center Freiburg, Freiburg, Germany, ³University Hospital Tuebingen, Tuebingen, Germany, ⁴Clinic for Rheumatology and Hiller Research Unit, Heinrich-Heine-University Duesseldorf, Medical Faculty, Düsseldorf, Germany, ⁵Rheumapraxis Muenchen, Muenchen, Germany, ⁶Department of Rheumatology and Clinical Immunology, Kliniken Essen-Mitte, Essen, Germany
Background/Purpose: Pregnancies in women with chronic diseases are often accompanied by concerns about potential complications [1]. This analysis explored medication-related concerns among women with inflammatory…
Abstract Number: 2039 • ACR Convergence 2023
Clinical, Immunologic, and Genetic Characteristics in Patients with Syndrome of Undifferentiated Recurrent Fevers (SURF)
Marci Macaraeg, Michael Matt, Elizabeth Handorf, Elizabeth Baker and Grant Schulert, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
Background/Purpose: Unexplained recurrent fevers are a common presentation to pediatric rheumatology and a significant burden to affected families due to missed daycare or school days…
Abstract Number: 0143 • ACR Convergence 2023
Cancer Incidence in Familial Mediterranean Fever
Sura Nur Baspinar¹, Berkay Kilic², Feyza Azman³, Mebrure Burcak Yuzbasioglu¹, Yelin Guler², Muhammet Kadir Tanin², Ulgar Boran Gunay², Gunay Can⁴ and Serdal Ugurlu⁵, ¹Department of Internal Medicine, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey, ²Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey, ³Cerrahpasa Faculty of Medicine, Istanbul, Turkey, ⁴Department of Public Health, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey, ⁵Istanbul University-Cerrahpasa, Istanbul, Turkey
Background/Purpose: Familial Mediterranean Fever (FMF) is the most common hereditary monogenic fever syndrome characterized by recurrent attacks of fever and polyserositis. Anti-inflammatory drugs, with colchicine…
Abstract Number: 0759 • ACR Convergence 2023
Derivation and Validation of Four Patient Clusters in Still’s Disease, Results from GIRRCS AOSD-study Group and AIDA Network Still Disease Registry
Piero Ruscitti¹, Antonio Vitale², Ilenia Di Cola¹, Roberto giacomelli³ and Luca Cantarini⁴, ¹University of L'Aquila, L'Aquila, Italy, ²University of Siena, Siena, Italy, ³University of Rome Campus Biomedico, Rome, Italy, ⁴Department of Medical Sciences, Surgery and Neurosciences, Rheumatology Unit, University of Siena and Azienda Ospedaliero-Universitaria Senese [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center], Siena, Italy
Background/Purpose: Still's disease is a rare inflammatory disorder, these patients have a highly heterogeneous disease according to age of onset, clinical presentation, presence of life-threatening…
Abstract Number: 1590 • ACR Convergence 2023
Autoimmune Pathway Blockade by a Potent Orally Bioavailable STING Antagonist
Min Yang¹, Hailong Li¹, yangyang liu¹, lili yao¹, Jing Lin¹, Zhi xie² and Wenge zhong¹, ¹Regor Therapeutics, Shanghai, China, ²Regor Pharmaceuticals, Inc., San Francisco, CA
Background/Purpose: The cyclic GMP-AMP synthase (cGAS)-stimulator of interferon genes (STING) pathway has emerged as a key innate immune mediator of autoimmune and inflammatory diseases. However,…
Abstract Number: 2044 • ACR Convergence 2023
Monogenic Interferon Mediated Diseases: Novel Phenotype and Genotype Characteristics from Saudi Population
Alhanouf Alsaleem, Sulaiman Al-Mayouf and Shahad Alansari, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
Background/Purpose: IFN-mediated diseases are mendelian innate immunodysregulatory disorders that present early in life with fevers, sterile organ inflammation, and a high type-I IFN-response gene signature…
Abstract Number: 0200 • ACR Convergence 2023
Herpes Zoster Prevalence in Patients with Rheumatic Diseases
Rodrigo J. Castillo-de la Garza¹, Jorge A. Esquivel-Valerio², Emmanuel Campos-Tinajero², Anahí Carrazco Chapa³, Gisela García Arellano⁴, Axel A. De Leon-Perez², Pablo Gamez-Siller² and Dionicio A. Galarza-Delgado⁵, ¹Universidad Autónoma de Nuevo León, Monterrey, Mexico, ²Hospital Universitario "Dr. José Eleuterio González", Monterrey, Mexico, ³Facultad de Medicina, Universidad Autónoma de Nuevo León, Monterrey, Mexico, ⁴Hospital Universitario "Dr. José Eleuterio González", Monterrey, Mexico, ⁵Hospital Universitario UANL, Monterrey, Mexico
Background/Purpose: Herpes zoster (HZ) is a painful rash that is commonly known as shingles. People that had a primary infection caused by the varicella-zoster virus…
Abstract Number: 0761 • ACR Convergence 2023
EULAR / PreS Recommendations for the Diagnosis and Management of Systemic Juvenile Idiopathic Arthritis (sJIA) and Adult Onset Still’s Disease (AOSD)
Bruno Fautrel¹, STEPHANE MITROVIC², Arianna De Matteis³, Sara Bindoli⁴, Jordi Anton⁵, Alexandre Belot⁶, Claudia Bracaglia³, Tamas Constantin⁷, Lorenzo Dagna⁸, Alessandro de Bartolo⁹, Eugen Feist¹⁰, Dirk Foell¹¹, Marco Gattorno¹², Sophie Georgin-Lavialle¹³, Roberto Giacomelli¹⁴, Alexei Grom¹⁵, Yvan Jamilloux¹⁶, Katerina Laskari¹⁷, Calin Lazar¹⁸, Francesca Minoia¹⁹, Peter Nigrovic²⁰, Filipa Oliveira Ramos²¹, Seza Ozen²², Pierre Quartier Dit Maire²³, Piero Ruscitti²⁴, Erdal Sag²⁵, Sinisa Savic²⁶, Marie-Elise Truchetet²⁷, Sebastiaan Vastert²⁸, Tanita Wilhelmer²⁹, Carine Wouters³⁰, Loreto Carmona³¹ and Fabrizio De Benedetti³², ¹Sorbonne Université APHP, Paris, France, ²Pitie Salpetriere Hospital, Sorbonne University, APHP, Paris, France, ³IRCCS Ospedale Pediatrico Bambino Gesu', Rome, Italy, ⁴Rheumatology Unit, department of Medicine,University of Padova, Padova, Italy, ⁵Hospital Sant Joan de Déu, Pediatric Rheumatology Department, Universitat de Barcelona, Barcelona, Spain, ⁶Hospices Civils de Lyon, Collonges au mont d'or, France, ⁷Semmelweis University, Budapest, Hungary, ⁸Ospedale San Raffaele, Milano, Italy, ⁹PReS Patient Research Partner, Milan, Italy, ¹⁰Helios Department of Rheumatology and Clinical Immunology, Vogelsang-Gommern, Germany, ¹¹University Hospital Münster, Münster, Germany, ¹²UOC Reumatologia e Malattie Autoinfiammatorie, Genoa, Italy, ¹³AP-HP, Tenon hospital, Paris, France, ¹⁴Policlinico Universitario Campus Bio-Medico, Roma, Italy, ¹⁵Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ¹⁶Hospices Civils de Lyon, Lyon, France, ¹⁷Athens University Medical School, Athens, Greece, ¹⁸University of Medicine and Pharmacy, Cluj-Napoca, Romania, ¹⁹Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy, ²⁰Boston Children's Hospital, Boston, MA, ²¹Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal, ²²Hacettepe University Medical Faculty, Ankara, Turkey, ²³Necker Hospital, Paris Cedex 15, France, ²⁴University of L'Aquila, L'Aquila, Italy, ²⁵Department of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey, ²⁶Leeds University, Leeds, United Kingdom, ²⁷Bordeaux University Hospital, Bordeaux, France, ²⁸University Medical Center Utrecht, Utrecht, Netherlands, ²⁹EULAR Patient Research Partner, Bludenz, Austria, ³⁰Leuven University, Leuven, Belgium, ³¹Instituto de Salud Musculoesquelética (InMusc), Madrid, Spain, ³²Bambino Gesu Children's Hospital, Division of Rheumatology, Rome, Italy
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) and adult-onset Still's disease (AOSD) are supposed to be age counterparts of the same disease, but no consensus has…
Abstract Number: 1674 • ACR Convergence 2023
Severe Infections in Patients with VEXAS Syndrome: A Study from the French VEXAS Group
Benjamin de Valence de Minardiere¹, Marion Delaune², Yann Nguyen³, Vincent Jachiet⁴, Mael Heiblig⁵, Alexis Jean⁶, Pierrick Henneton⁷, stanislas Riescher-tuczkiewicz⁸, Philippe Guilpain⁷, Hervé Lobbes⁹, Guillaume Le Guenno¹⁰, Nicolas Schleinitz¹¹, Valentin Lacombe¹², Vincent Langlois¹³, Roderau Outh¹⁴, Julien Vinit¹⁵, Jean-Philippe Martellosio¹⁶, Paul Decker¹⁷, Alexandre Vlakos¹⁸, Thomas Moulinet¹⁹, Yannick Dieudonne²⁰, Adrien Bigot²¹, Louis Terriou²², Bertrand De Maleprade²³, Guillaume Denis²⁴, Jonathan Broner²⁵, Marie Kostine²⁶, Sébastien Humbert²⁷, Benjamin Terrier²⁸, Sophie Georgin-Lavialle²⁹, Olivier Fain³⁰, Arsène Mekinian¹, Marjolaine MORGAND¹, Thibault Comont² and Jerome Hadjadj¹, ¹Department of Internal Medicine, Hôpital Saint-Antoine, AP-HP, Paris, France, ²Toulouse University Hospital, Toulouse, France, ³Department of Internal Medicine, Hôpital Beaujon, AP-HP, Clichy, France., Montmorency, France, ⁴Service de médecine interne et Inflammation-Immunopathology-Biotherapy Department (DMU i3), Sorbonne Université, AP-HP, Hôpital Saint Antoine, Paris, France, ⁵Hematology, Hospices Civils de Lyon, Lyon-Sud Hospital, Pierre-Bénite, France, ⁶Internal Medicine Department, Bordeaux University, Faculty of Medicine, Bordeaux University Hospital, Bordeaux, France, ⁷CHU Montpellier, Montpellier, France, ⁸CHU de Nantes, Nantes, France, ⁹CHU de Clermont-Ferrand, Clermont-Ferrand, France, ¹⁰Internal Medicine Department, Clermont-Ferrand University, Faculty of Medicine, Estaing University Hospital, Clermont-Ferrand, France, ¹¹Aix Marseille university, AP-HM, Marseille, France, ¹²Internal Medicine Department, Anger Hospital, Clermont-Ferrand, France, ¹³Service de Médecine Interne, Hôpital Jacques Monod, Le Havre, France, ¹⁴Internal Medicine Department, Perpignan Hospital Center, Perpignan, France, ¹⁵Service de Médecine Interne, CH William Morey, Chalon sur Saône, France., Chalon sur Saône, France, ¹⁶Service de médecine interne, maladies infectieuses et tropicales, CHU de Poitiers, Poitiers, France, ¹⁷Nancy hospital, France, Nancy, France, ¹⁸Vesoul Hospital, Vesoul, France, ¹⁹Department of Internal Medicine, Centre hospitalier universitaire de Nancy, Nancy, France, ²⁰Department of Clinical Immunology and Internal Medicine, National Reference Centre for Systemic Autoimmune Diseases (CNR RESO), Strasbourg University Hospital, Strasbourg, France, ²¹Internal Medicine Department, Tours University, Faculty of Medicine, Tours University Hospital, Tours, France, ²²Service de Médecine Interne et Immunologie Clinique, CHU Lille, Lille, France, ²³Rouen hospital, France, Rouen, France, ²⁴Service d'hématologie, CH de Rochefort, Rochefort, France, ²⁵CHU de Nimes, Nimes, France, ²⁶Bordeaux University Hospital, Bordeaux, France, ²⁷Besançon University Hospital, Besançon, France, ²⁸Department of Internal Medicine, Hôpital Cochin, AP-HP, Paris, France, ²⁹AP-HP, Tenon hospital, Paris, France, ³⁰Hopital SAINT ANTOINE APHP, Paris, France
Background/Purpose: VEXAS (Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic) syndrome is an autoinflammatory monogenic disease caused by inactivating somatic mutations in the UBA1 gene and characterized…
Abstract Number: 2045 • ACR Convergence 2023
Treatment Response in a Cohort of Pediatric Patients with Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV)
Ilaria Maccora¹, Arjun Sood², Grant Schulert³, Alexandra Duell³, Preston Land⁴, Cameron C Sapp², Jennifer Huggins³, Tiffany Nguyen², Megan Quilan-Waters³, Sumit Sharma⁵, Sunil Srivastava² and Sheila Angeles-Han⁶, ¹PhD student, in the Area of Drugs and Innovative Treatments, NeuroFARBA Department, University of Florence. Meyer Children's Hospital, Firenze, Italy, ²Cincinnati Eye Institute, Cincinnati, OH, ³Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁴Cincinnati Children's Hospital, Medical Center, Cincinnati, OH, ⁵Cleveland Clinic, Cleveland, OH, ⁶Cincinnati Children's Hospital, Cincinnati, OH
Background/Purpose: Pediatric uveitis often requires systemic immunomodulatory therapy (IMT) to prevent sight-threatening complications. Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is a rare autoimmune condition caused…
Abstract Number: 0214 • ACR Convergence 2023
COVID-19 Vaccine Uptake, Hesitancy, and Flare in a Large Rheumatology Practice Network
Emily Holladay¹, Amy S. Mudano², Fenglong Xie², Patrick Stewart³, Lesley E. Jackson¹, Maria I. ("Maio") Danila⁴, Kelly Gavigan⁵, W. Benjamin Nowell⁶, Shilpa Venkatachalam⁷ and Jeffrey Curtis¹, ¹University of Alabama at Birmingham, Birmingham, AL, ²Illumination Health, Hoover, AL, ³Illumination Health, Birmingham, AL, ⁴University of Alabama at Birmingham (UAB), Birmingham VA Medical Center, Birmingham, AL, ⁵Global Healthy Living Foundation, Upper Nyack, NY, ⁶Global Healthy Living Foundation, Nyack, NY, ⁷Global Healthy Living Foundation, New York, NY
Background/Purpose: COVID-19 vaccine uptake in autoimmune and inflammatory rheumatic disease (AIIRD) patients is an area of concern to rheumatologists and other providers. These patients are…
Abstract Number: 0762 • ACR Convergence 2023
Liver Disease Is a Common Feature of HA20 That Causes Significant Morbidity Associated with Interferon Induction
Magdalena Harasimowicz¹, Deborah Stone², Manuel Carpio Tumba¹, Tina Romeo², Urekha Karri¹, Patrycja Hoffmann³, Helen Leavis⁴, Alexander Miethke⁵, Theo Heller², Anjali Rai², Ivona Aksentijevich², amanda ombrello⁶, Daniel Kastner⁷ and Daniella Schwartz¹, ¹University of Pittsburgh, Pittsburgh, PA, ²NIH, Bethesda, MD, ³NIH, Vienna, VA, ⁴Infection Immunity Utrecht, Utrecht, Netherlands, ⁵Cincinnati Children's Hospital, Cincinnati, OH, ⁶National Institutes of Health, Rockville, MD, ⁷National Human Genome Research Institute, Bethesda, MD
Background/Purpose: Heterozygous loss-of-function TNFAIP3 mutations cause A20 haploinsufficiency (HA20), an early-onset immune dysregulatory disease1. While HA20 was initially described as an inherited form of Behcet’s…
Abstract Number: 1712 • ACR Convergence 2023
Identification and Functional Characterization of Eight CANDLE/PRAAS Causing Proteasome Variants in Five Unrelated Patients
Adriana Almeida de Jesus¹, Jonas J. Papendorf², Frederic Ebstein³, Sara Alehashemi⁴, Daniela Pioto⁵, Anna Kozlova⁶, Maria Teresa TErreri⁷, Anna Shcherbina⁶, Andre Rastegar⁸, Marta Rodrigues⁹, Renan Pereira¹⁰, Sophia Park¹¹, Bin Lin¹², Kat Uss¹¹, Ana Flavia da Silva Pina⁵, FLAVIO SZTAJNBOK¹³, Sofia Torreggiani¹⁴, Jennifer Stoddard¹⁵, Julie Niemela¹⁵, Sergio Rosenzweig¹⁵, Adriana Fonseca¹⁶, Marietta De Guzman¹⁷, Nicole Micheloni⁵, Melissa Fraga⁵, Sandro Perazzio¹⁸, Raphaela Goldbach-Mansky¹⁹ and Elke Krueger², ¹NIAID, NIH, Bethesda, MD, ²Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Greifswald, Germany, ³Nantes Université, Nantes, France, ⁴NIH/NIAID/TADS, Clarksville, MD, ⁵Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil, ⁶Center for Pediatric Hematology, Oncology, Immunology, Moscow, Russia, ⁷UNIFESP, São Paulo, Brazil, ⁸NIH, Bethesda, MD, ⁹Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil, ¹⁰Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil, ¹¹Translational Autoinflammatory Diseases Section, LCIM, NIAID, NIH, Bethesda, MD, ¹²Translational Autoinflammatory Diseases Section l LCIM, NIAID, NIH, Bethesda, MD, ¹³UFRJ/UERJ, São Paulo, Brazil, ¹⁴University of Maryland Baltimore, Baltimore, MD, ¹⁵Department of Laboratory Medicine, Clinical Center, NIH, Bethesda, MD, ¹⁶Instituto de Puericultura e Pediatria Martagao Gesteira / Universidade Federal do Rio de Janeiro, Rio De Janeiro, Brazil, ¹⁷Baylor College of Medicine, Houston, TX, ¹⁸Universidade de Sao Paulo (Unifesp); Universidade de São Paulo (USP); Fleury Laboratories, São Paulo, Brazil, ¹⁹NIH/NIAID, Potomac, MD
Background/Purpose: Mutations in genes coding for 20S proteasome subunits or proteasome assembly helpers cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures (CANDLE) or…
Abstract Number: 2048 • ACR Convergence 2023
Development and Usability Testing of Web-based Standardized Scoring Tool for Magnetic Resonance Images from Children with Chronic Nonbacterial Osteomyelitis (CNO)
Farzana Nuruzzaman¹, T. Shawn Sato², Andrew Carbert³, Joel Paschke³, Lauren Potts⁴, Meinrad Beer⁵, Mingqian Huang⁶, Ramesh Iyer⁷, Johanna Monsalve⁸, Anh-Vo Ngo⁷, Jennifer Stimec⁹, Mahesh Thapa⁷, Xiaoyue Zhang¹⁰, Walter P. Maksymowych¹¹, Polly Ferguson¹² and Yongdong (Dan) Zhao¹³, ¹Stony Brook Children's Hospital, Stony Brook, NY, ²University of Iowa, Iowa City, IA, ³CARE Arthritis, Edmonton, AB, Canada, ⁴Illustrator/Patient Research Partner, Long Beach, CA, ⁵University Hospital, Ulm Germany, Ulm, Germany, ⁶Mount Sinai Hospital, New York, NY, ⁷University of Washington, Seattle, WA, ⁸SUNY-Stony Brook Hospital, Stonybrook, NY, ⁹The Hospital for Sick Children, Toronto, ON, Canada, ¹⁰Biostatistical Consulting Core - Renaissance School of Medicine at Stony Brook University, Stony Brook, NY, ¹¹University of Alberta, Edmonton, AB, Canada, ¹²University of Iowa Carver College of Medicine, Iowa City, IA, ¹³University of Washington, Redmond, WA
Background/Purpose: The ChRonic nonbacterial Osteomyelitis Magnetic Resonance Imaging Scoring (CROMRIS) tool was developed but it was not digitized yet. Our objectives are: 1) to adapt…

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