Abstracts tagged "Autoinflammatory diseases"

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…
Abstract Number: 0220 • ACR Convergence 2023
Paxlovid (Nirmatrelvir Plus Ritonavir) in Patients with Underlying Rheumatological Diseases, in Preventing COVID-19 Related Hospitalization and Death
Faiza Javed, Tony Mangino and Paramarajan Piranavan, University of Kentucky College of Medicine, Lexington, KY
Background/Purpose: The benefits of antiviral therapy in the COVID-19 patients with underlying rheumatic disease with or without immunosuppression are not entirely clear. The goal of…
Abstract Number: 0891 • ACR Convergence 2023
Selective and Potent Inhibition of Cyclic GMP-AMP Synthase (cGAS) Fully Normalizes Autoinflammation Across Tissues in a Trex1-/- Mouse Model for Type I Interferonopathies
Arnaud Bourin¹, Zuzana Hořejší², Isabelle Cambré¹, Juraj Dobiaš², Mikhail Klychnikov², Radek Liboska², Maroš Smolíček², Zdeněk Vavřina², Wanda Haeck¹, Hugo Klaassen¹, Marnik Nijs¹, Kristine Metzger¹, Sandro Boland¹, Dries De Clercq¹, Sara Allasia¹, Gunter Carlens¹, Patrick Chaltin³, Arnaud Marchand¹, Ondřej Páv², Matthias Versele¹ and Gabriel Birkuš², ¹Centre for Drug Design and Discovery (CD3) - Cistim, Leuven, Belgium, ²Institute of Organic Chemistry and Biochemistry, Prague, Czech Republic, ³Centre for Drug Design and Discovery (CD3) - KU Leuven, Leuven, Belgium
Background/Purpose: The cGAS enzyme is a sensor of cytosolic double-strand (ds) DNA. It serves to detect viruses and elicits an acute, transient cGAMP-STING mediated type…
Abstract Number: 1775 • ACR Convergence 2023
The Peptidyl Arginine Deiminase Inhibitor BB-CLA Decreases the Inflammatory and Fibrotic Responses in Macrophages and Rheumatoid Arthritis Synovial Fibroblasts Exposed to Fibrinogen Modified with Malondialdehyde-Acetaldehyde Adduct and Citrulline
Jack Mordeson¹, Nozima Aripova¹, Michael Duryee¹, James O'Dell¹, Bryant England¹, Daniel Anderson¹, Ted R Mikuls² and Geoffrey Thiele¹, ¹University of Nebraska Medical Center, Omaha, NE, ²Division of Rheumatology and Immunology, University of Nebraska Medical Center, Omaha, NE
Background/Purpose: Peptide citrullination and adduction with malondialdehyde-acetaldehyde adduct (MAA) are post-translational modifications involved in the pathogenesis of rheumatoid arthritis (RA). Anti-cyclic-citrullinated peptide antibodies are >90%…
Abstract Number: 2053 • ACR Convergence 2023
Predictive Factors Associated with Treatment Response in Chronic Nonbacterial Osteomyelitis
Katherine Nowicki¹, Nathan Rogers², Carson Keeter², Nathan Donaldson², Jennifer Soep² and Yongdong (Dan) Zhao³, ¹University of Colorado, Lakewood, CO, ²University of Colorado, Aurora, CO, ³University of Washington, Redmond, WA
Background/Purpose: Chronic nonbacterial osteomyelitis (CNO) is characterized by sterile inflammatory bone lesions and most commonly affects skeletally immature children. Non-steroidal anti-inflammatory drugs (NSAIDs) are the…
Abstract Number: 0255 • ACR Convergence 2023
Lymphoid Mass in the Inferior Turbinate with IgG4 Producing Cells: A Nasal Manifestation of IgG4-RD or a Distinct Chronic Inflammatory Disease?
Ji In Jung¹, Ju Yeon Kim², Jun Won Park², Eun Bong Lee², Jin Kyun Park³ and Doo Hee Han², ¹Division of Rheumatology, Department of Internal Medicine, Seoul National University Hospital, Seoul, South Korea, ²Seoul National University Hospital, Seoul, South Korea, ³Seoul National University College of Medicine, Seoul, South Korea
Background/Purpose: IgG4-related disease (IgG4-RD) is a rare, multi-system, fibro-inflammatory disorder characterized by the infiltration of lymphoplasmacytic cells, storiform fibrosis, obliterative phlebitis, and the presence of…
Abstract Number: 1093 • ACR Convergence 2023
Development of Adaptive Immunity Against Different SARS-CoV-2 Variants over the Course of Three COVID-19 Vaccinations in Patients with Inflammatory Rheumatic Diseases
Liam Huppke¹, Paul Wratil², Marie Bischof², Stefan Wolfrum¹, Fabian Ullrich¹, Delila Singh¹, Julia Lichtnekert¹, Lea Grümme¹, Christina Gebhardt¹, Klaus Krüger³, Franziska Wiesent⁴, Alla Skapenko¹, Oliver Keppler⁵ and Hendrik Schulze-Koops⁶, ¹Division of Rheumatology and Clinical Immunology, Department of Internal Medicine IV, University of Munich, Munich, Germany, ²Max von Pettenkofer Institute & Gene Centre, Virology, National Reference Centre for Retroviruses, LMU Munich, Munich, Germany, ³Praxiszentrum St. Bonifatius, Munich, Germany, ⁴Endokrinologikum München, Munich, Germany, ⁵Max von Pettenkofer Institute & Gene Centre, Virology, National Reference Centre for Retroviruses, LMU München, Munich, Germany, ⁶Division of Rheumatology and Clinical Immunology, Department of Internal Medicine IV, Ludwig-Maximilians–University Munich, Munich, Germany
Background/Purpose: Even though individuals with inflammatory rheumatic diseases (IRDs) were excluded from the SARS-CoV-2 vaccine trails, studies have shown that these individuals at risk of…

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