Abstracts tagged "Autoinflammatory diseases"

Abstract Number: 0917 • ACR Convergence 2024
Role of Mutual Information Profile Shifts in Assessing the Pathogenicity of Mutations on Protein Functions: The Case of Pyrin Mutations in Familial Mediterranean Fever
Aysima Hacisuleyman¹, Ahmet Gul² and Burak Erman³, ¹Department of Computational Biology, University of Lausanne, Lausanne, Switzerland, ²Division of Rheumatology, Department of Internal Medicine, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey, Istanbul, Turkey, ³3Chemical and Biological Engineering, Koc University, Istanbul, Turkey
Background/Purpose: Predicting the pathogenicity of amino acid substitutions is crucial for understanding the functional consequences of genetic variations. Several computational methods frequently used so far…
Abstract Number: 1215 • ACR Convergence 2024
Mortality in US Veterans with Musculoskeletal Conditions Using Cyclobenzaprine or Baclofen
Maria Intriago¹, Puran Nepal², Laura L. Daniel¹, Alyson L. Dickson³, Otis Wilson³, C. Michael Stein³, Adriana M. Hung⁴ and Cecilia P. Chung¹, ¹University of Miami, Miami, FL, ²Vanderbilt University Medical Center, Vanderbilt, TN, ³Vanderbilt University Medical Center, Nashville, TN, ⁴Veterans Administration Tennessee Valley Healthcare System, Nashville, TN
Background/Purpose: Cyclobenzaprine is a commonly-used centrally-acting muscle relaxant; it has been approved for short-term treatment of muscle spasms associated with acute musculoskeletal pain despite limited…
Abstract Number: 1998 • ACR Convergence 2024
Association Between Small Interfering RNA Therapy and Autoimmune Diseases: U.S. Prospective Cohort Study
Liang Sien Chen, Chang Gung Memorial Hospital, Linkou Branch, Taoyuan City, Taoyuan, Taiwan (Republic of China)
Background/Purpose: Monoclonal antibody (mAb) therapy and small interfering RNA (siRNA) therapy represent two cutting-edge approaches in treating various diseases, such as hyperlipidemia. Our study aims…
Abstract Number: 2201 • ACR Convergence 2024
Immunodeficiency-Related Monogenic Autoinflammatory Diseases; Expanding Spectrum of Immunodysregulation Disorders
Alhanouf Alsaleem¹, Lujain Akbar² and Sulaiman Al-Mayouf³, ¹KFSH&RC, Riyadh, Saudi Arabia, ²RIYADH, RIYADH, Saudi Arabia, ³KFSHRRC, Riyadh, Saudi Arabia
Background/Purpose: Human inborn errors of immunity are caused by monogenic germline mutations characterized by Immunodeficiency like features with increase susceptibility to infection as well as…
Abstract Number: 0301 • ACR Convergence 2024
Path to Diagnosis in Familial Mediterranean Fever (FMF)
Sejla Karup¹, Dila Polat², Erengul Dincsoy², Feyza Nur Azman², Mahir Emir Cokrak², Ertan Berkiten² and Serdal Ugurlu³, ¹Cerrahpasa Faculty of Medicine, Istanbul, Turkey, ²Cerrahpasa Medical Faculty, University of Istanbul, Istanbul, Turkey, ³Istanbul University-Cerrahpasa, Istanbul, Turkey
Background/Purpose: Familial Mediterranean Fever (FMF) is a genetic disorder characterized by recurrent febrile episodes and inflammation, most commonly presenting with peritonitis, pleuritis, and arthritis. The…
Abstract Number: 0920 • ACR Convergence 2024
TGF-β Activated Kinase 1 Inhibition by Pentagalloyl Glucose Inhibits NLRP3 Inflammasome Formation and Ameliorates MSU-Induced Inflammation
Paul Panipinto¹ and Salahuddin Ahmed², ¹Washington State University College of Pharmaceutical Science and Molecular Medicine, Spokane, WA, ²Washington State University, Spokane, WA
Background/Purpose: Monosodium urate (MSU)-induced inflammation is caused by the deposition of MSU crystals in the joints and periarticular tissues under conditions of hyperuricemia. These deposits…
Abstract Number: 1394 • ACR Convergence 2024
Nationwide Retrospective Cohort Study on Clinical Outcomes in Rheumatoid Arthritis Patients Treated with JAK Inhibitors
Yurilu Gonzalez Moret¹, Diego Lema² and Fabian Rodriguez Quinonez³, ¹Jefferson Einstein Hospital, Philadelphia, PA, ²Universidad Central de Venezuela, University of Wisconsin, Philadelphia, PA, ³Einstein Medical Center Philadelphia, Philadelphia, PA
Background/Purpose: Janus kinase inhibitors (JAKi) are a class of disease activity-modifying drugs (DMARDs) that have quickly established a role in managing rheumatoid arthritis. Inhibition of…
Abstract Number: 2025 • ACR Convergence 2024
Autonomic Nervous System Dysfunction Common Among Patients with Long COVID:Diagnosis and Treatment Implications
Norman Gaylis¹, Odence DeLaRosa², Joanne Sagliani¹ and Andrew Holman³, ¹Arthritis & Rheumatic Disease Specialties, Aventura, FL, ²Arthritis & Rheumatic Disease Specialties., Aventura, FL, ³Inmedix, Inc, Seattle, WA
Background/Purpose: Up to 70% of the 236 million people who have been diagnosed with COVID-19 develop some post-COVID symptoms, i.e. post-acute sequalae of SARS-CoV-2 (PASC)…
Abstract Number: 2202 • ACR Convergence 2024
Evolving Phenotypic and Genotypic Spectrum of Human ISG15 and USP18 Deficiencies
Alhanouf Alsaleem¹, Wafaa Abdulghaffar², Lujain Akbar³, Meshal Alhassan⁴, Fatimah Alkhars⁵ and Sulaiman Al-Mayouf⁶, ¹KFSH&RC, Riyadh, Saudi Arabia, ²KFSHRC, RIYADH, RIYADH, ³RIYADH, RIYADH, Saudi Arabia, ⁴Imam Abdulrahman Bin Faisal University, DAMMAM, ⁵Maternity and children hospital, ALHASSA, ⁶KFSHRRC, Riyadh, Saudi Arabia
Background/Purpose: Loss of negative regulator in ISG15 and USP18 results in recently described immunodysregulatory disorders with diversity of clinical characteristics related to enhanced IFN-a/b immunity.…
Abstract Number: 0302 • ACR Convergence 2024
TNFAIP3 Loss-of-function and Missense Mutations Demonstrate Clinically Diverse Presentations: A Multi-center Cohort Experience
Elizabeth Kairis¹, Manuel Carpio Tumba¹, Urekha Karri¹, Magdalena Harasimowicz¹, Megan Cooper², Lance Peterson², Priscilla Campbell-Stokes³, Juan Carlos Aldave-Becerra⁴, Ana Beatriz Muñoz-Urribarri⁴ and Daniella Schwartz¹, ¹University of Pittsburgh, Pittsburgh, PA, ²Washington University School of Medicine, St. Louis, MO, ³Child Health Service, Hutt Hospital, National Pediatric Rheumatologic Service, Te Whatu Ora, New Zealand, ⁴Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru
Background/Purpose: A20 is a critical anti-inflammatory protein encoded by the TNFAIP3 (tumor necrosis factor alpha-induced protein 3) gene. A20 negatively regulates multiple anti-inflammatory pathways including…
Abstract Number: 0921 • ACR Convergence 2024
Deep Immunologic Profiling of Trisomy 8-associated Autoinflammatory Disease (TRIAD)
Kalpana Manthiram¹, Lihong Shi¹, Yue Zhang², Bayu Sisay³, Shouguo Gao⁴, Zhijie Wu⁴, Qin Xu¹, Mary Bowes², Laura Failla², Neelam Redekar², Abdel Elkahloun³, Pamela Schwartzberg¹ and Daniel Kastner³, ¹National Institute of Allergy and Infectious Disease, Bethesda, MD, ²National Institute of Allergy and Infectious Diseases, Bethesda, MD, ³National Human Genome Research Institute, Bethesda, MD, ⁴National Heart, Lung, and Blood Institute, Bethesda, MD
Background/Purpose: Trisomy 8 mosaicism is associated with an inflammatory disease characterized by recurrent fever and oral, genital, and gastrointestinal ulcers, resembling Behçet’s disease. Little is…
Abstract Number: 1621 • ACR Convergence 2024
Analysis of Hospitalizations of Adult Patients with Kawasaki’s Disease: A United States Population Based Study
Ufuoma Mamoh¹, Soziema Salia¹, Joan Morny², Jesse Odion³, Elem Ewuru⁴, Precious Onobraigho⁵, Eugene Omoike⁵, Oyidia Ijioma⁶, Osaruese Ezomo⁷ and Ehizogie Edigin⁸, ¹Medstar Union Memorial Hospital, Baltimore, MD, ²Piedmont Athens Regional Medical Center, Athens, GA, ³Royal Devon University Healthcare NHS Foundation Trust, Barnstaple, United Kingdom, ⁴Acute and Emergency Care United Kingdom Medway Maritime Hospital, Gillingham, ⁵College of Medicine, University of Benin, Benin, Nigeria, ⁶Department of Clinical Psychiatry, University of South Wales, Wales, United Kingdom, ⁷Department of Gastroenterology, Spire Manchester Hospital, Manchester, United Kingdom, ⁸The University of Texas Health Science Center, houston, TX
Background/Purpose: Kawasaki disease (KD) is a systemic vasculitis, typically affecting young children, and is the leading cause of acquired heart disease in children in developed…
Abstract Number: 2028 • ACR Convergence 2024
Therapeutic Insights in VEXAS Syndrome from a Multicenter Study in Spain: Moving Towards Amore Specific and Effective Treatment
Marta López I Gómez¹, Paula García Escudero², Berta Magallanes López³, Alicia García Dorta⁴, Beatriz Frade-Sosa⁵, Meritxell Sallés Lizarzaburu⁶, Íñigo Rúa-Figueroa⁷, Dolly Viviana Fiallo Suárez⁸, Francisco Javier Toyos Sáenz de Miera⁹, Rafael Benito Melero-Gonzalez¹⁰, Diego Dios Santos¹¹, Jose Alberto Miranda¹², Clara Garcia Belando¹³, Giuliano Boselli¹⁴, Alina Lucica Boteanu¹⁵, Cristina Corrales Selaya¹⁶, cristiana sieiro santos¹⁷, Elvira Díez Álvarez¹⁸, Judit Font¹⁹, Elena Riera Alonso²⁰, Ernesto Trallero Araguás²¹, Eugenia Enríquez Merayo²², Maria Rodriguez-Laguna²³, irene monjo²⁴, Ignacio Vázquez Gómez²⁵, Paloma Vela-Casasempere²⁶, Carolina Merino²⁷, Marta Ibáñez Martínez²⁸, José Ángel Hernández Beriain²⁹, ALBERTO MARIANO RUIZ ROMAN³⁰ and Jaime Calvo-Alén³¹, ¹Hospital Universitario Alava, Vitoria, Pais Vasco, Spain, ²Hospital Universitario Araba, Vitoria, ³Hospital de la Santa Creu i Sant Pau, Barcelona, ⁴Rheumatologist, La Laguna, Spain, ⁵Hospital Clinic de Barcelona, Barcelona, Spain, ⁶Althaia Xarxa Assistencial Universitària Manresa, Manresa, Catalonia, Spain, ⁷Department of Rheumatology, Hospital Universitario Doctor Negrín, Las Palmas de Gran Canaria, Las Palmas GC, Spain, ⁸H. U. de Gran Canaria. Dr. Negrin, H. U. de Gran Canaria, ⁹H. U. Virgen Macarena, H. U. Virgen Macarena, ¹⁰CHU Ourense, O Carballino, Spain, ¹¹C. H. U. A Coruña, C. H. U. A Coruña, ¹²C. H. U. Lucus Augusti (Lugo), (Lugo), ¹³H. C. U. Virgen de la Arrixaca, Murcia, ¹⁴hospital miguel servet, zaragoza, Aragon, Spain, ¹⁵H.U. Ramón y Cajal, Madrid, Spain, ¹⁶Rheumatology, Marques de Valdecilla University Hospital. IDIVAL, Santander, Cantabria, Spain, ¹⁷Rheumatology Department, Complejo Asistencial Universitario de León, León, Spain, Leon, Spain, ¹⁸Complejo Asistencial Universitario de León, León, Spain, ¹⁹Hospital Germans Trias i Pujol, Barcelona, Spain, ²⁰Mutua de Terrasa, Barcelona, ²¹Hospital Vall D'Hebron, Barcelona, Spain, ²²Hospital 12 de Octubre, Madrid, ²³Resident in Rheumatology, Madrid, Spain, ²⁴University Hospital La Paz, Madrid, Spain, ²⁵H. U. Dr. Peset, Valencia, ²⁶Hospital General Universitario Alicante, Alicante, Spain, ²⁷Hospital Universitario Puerta de Hierro Majadahonda., Majadahonda (Madrid), Spain, ²⁸Hospital Clínico Universitario de Salamanca, Salamanca, Spain, ²⁹Rheumatology Department. Hospital Universitario Insular de Gran Canaria, Las Palmas de Gran C, Spain, ³⁰Hospital Universitario Juan Ramón Jiménez, Huelva, Spain, ³¹Department of Rheumatology, Hospital Araba, Vitoria, Pais Vasco, Spain
Background/Purpose: Nearly four years since its characterization, management and therapeutic algorithms for VEXAS syndrome remain unclear. This study aims to describe treatment approaches and assess…
Abstract Number: 2503 • ACR Convergence 2024
Hypothalamic-Pituitary-Adrenal Axis Suppression by Prednisolone Reversed by the 11β-Hydroxysteroid Dehydrogenase Type 1 Inhibitor Clofutriben
Frank S Czerwiec¹, Irina Bancos², Paul M Stewart³, Ketan Desai¹ and David A Katz¹, ¹Sparrow Pharmaceuticals, Portland, OR, ²Mayo Clinic, Rochester, MN, ³University of Leeds, Leeds, United Kingdom
Background/Purpose: Approximately 1% of the population rely on chronic glucocorticoid (GC) prescription to control autoimmune and inflammatory conditions. Risk of GC induced adrenal insufficiency (GC-AI)…
Abstract Number: L01 • ACR Convergence 2023
Analysis of 245,388 Diverse Participants in the NIH All of Us Cohort Identifies VEXAS Resiliency in UBA1 M41L Somatic Mutation Carriers
Robert Corty¹ and Alexander Bick², ¹Vanderbilt University Medical Center, Nashville, TN, ²Vanderbilt University, Nashville, TN
Background/Purpose: VEXAS syndrome is a recently-discovered systemic auto-inflammatory disease caused by somatic mutation at position 41 in the X-linked gene UBA1.1 First, 25 older men…

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