Abstracts tagged "Bioinformatics"

Abstract Number: 1360 • ACR Convergence 2025
Evaluating Causal Effects of Biologic and Targeted Synthetic Disease-modifying Anti-rheumatic Drugs Targets in Rheumatoid Arthritis Using Mendelian Randomisation
Mihye Kwon¹, Chung-il Joung¹ and Young Soo Song², ¹Konyang University Hospital, Daejeon, Republic of Korea, ²Konyang University Hospital, Daejeon, Taejon-jikhalsi, Republic of Korea
Background/Purpose: Rheumatoid arthritis (RA) is a chronic autoimmune disease in which biologic and targeted synthetic DMARDs (bDMARDs, tsDMARDs) have substantially improved clinical outcomes. While randomized…
Abstract Number: 0856 • ACR Convergence 2025
Integrated Single-Cell and Spatial Transcriptomics Reveal Vascular and Immune Pathogenesis in APS Nephropathy
Shuyi Yu¹, Haoyu Pan¹, Jinyi Qian¹, Xiaohan Wei², Yuying Fan¹, Zhixia Yang¹, Shiyan Gu¹, Jianzhou Wu¹, Cenyi Wang¹, Tiancheng Zhou¹ and Hui Shi³, ¹Department of Rheumatology and Immunology, Ruijin Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China, Shanghai, Shanghai, China (People's Republic), ²Shanghai JiaoTong University, Shanghai, China (People's Republic), ³Shanghai Jiaotong University Affiliated Ruijin Hospital, Shanghai, China (People's Republic)
Background/Purpose: To elucidate the molecular and cellular mechanisms underlying antiphospholipid antibody (aPL) nephropathy using integrated single-cell and spatial transcriptomic (SP) profiling of kidney tissues.Methods: Renal…
Abstract Number: 0020 • ACR Convergence 2025
Bulk RNA-sequencing of Leukocytoclastic Vasculitis Skin Biopsies Show Upregulation of Leukocyte Migration Genes
Anne Carlton, Lam Tsoi, Joseph Kirma, Jennifer Fox, Paul Harms and Johann Gudjonsson, University of Michigan, Ann Arbor, MI
Background/Purpose: Vasculitis encompasses multiple conditions united by end-organ damage due to an immune-mediated reaction against the vasculature. Leukocytoclastic vasculitis (LCV) is a subtype of cutaneous…
Abstract Number: L11 • ACR Convergence 2024
Rheumatology Diagnostics Utilizing Artificial Intelligence (ANA Reader©) for ANA Pattern Identification and Titer Quantification
May Choi¹, Farbod Moghaddam¹, Mohammad Sajadi¹, Ann E. Clarke¹, Sasha Bernatsky², Karen Costenbader³, Irene Chen⁴, Murray Urowitz⁵, John Hanly⁶, Caroline Gordon⁷, Sang-Cheol Bae⁸, Juanita Romero-Diaz⁹, Jorge Sanchez-Guerrero¹⁰, Daniel Wallace¹¹, David Isenberg¹², Anisur Rahman¹³, Joan Merrill¹⁴, Paul Fortin¹⁵, Dafna Gladman¹⁶, Ian Bruce¹⁷, Michelle Petri¹⁸, Ellen Ginzler¹⁹, Mary Anne Dooley²⁰, Rosalind Ramsey-Goldman²¹, Susan Manzi²², Andreas Jönsen²³, Graciela Alarcón²⁴, Ronald Van Vollenhoven²⁵, Cynthia Aranow²⁶, Meggan Mackay²⁶, Guillermo Ruiz-Irastorza²⁷, S. Sam Lim²⁸, Murat Inanç²⁹, Kenneth Kalunian³⁰, Soren Jacobsen³¹, Christine Peschken³², Diane Kamen³³, Anca Askanase³⁴, Marvin Fritzler³⁵ and Mina Aminghafari¹, ¹University of Calgary, Calgary, AB, Canada, ²Research Institute of the McGill University Health Centre, Montreal, QC, Canada, ³Brigham and Women's Hospital/Harvard Medical School, Boston, MA, ⁴UC Berkeley and UCSF, Berkeley, CA, ⁵Self employed, Toronto, ON, Canada, ⁶Dalhousie University, Halifax, NS, Canada, ⁷University of Birmingham, Birmingham, United Kingdom, ⁸Hanyang University Medical Center, Seoul, South Korea, ⁹The National Institute of Medical Sciences and Nutrition, Mexico City, Mexico, ¹⁰Krembil Research Institute, Toronto, ON, Canada, ¹¹Cedars Sinai Medical Center, Studio City, CA, ¹²Department of Ageing, Rheumatology and Regenerative Medicine, Division of Medicine, University College London, London, United Kingdom, ¹³University College London, London, United Kingdom, ¹⁴Oklahoma Medical Research Foundation, Oklahoma City, OK, ¹⁵Centre ARThrite - CHU de Québec - UniversitéLaval, Quebec, QC, Canada, ¹⁶University of Toronto, Toronto Western Hospital, Toronto, ON, Canada, ¹⁷Queen's University Belfast, Belfast, United Kingdom, ¹⁸Johns Hopkins University School of Medicine, Baltimore, MD, ¹⁹SUNY Downstate Health Sciences University, New York, NY, ²⁰UNC physician network, Chapel Hill, NC, ²¹Northwestern University, Chicago, IL, ²²Allegheny Health Network, Pittsburgh, PA, ²³Lund University, Lund, Sweden, ²⁴The University of Alabama at Birmingham, Oakland, CA, ²⁵Amsterdam UMC, Amsterdam, Netherlands, ²⁶Feinstein Institutes for Medical Research, New York, NY, ²⁷Biobizkaia Health Research Institute, Bilbao, Spain, ²⁸Emory University, Atlanta, GA, ²⁹Istanbul University, Istanbul, Turkey, ³⁰UC San Diego, La Jolla, CA, ³¹Rigshospitalet, Copenhagen, Denmark, ³²University of Manitoba, Winnipeg, MB, Canada, ³³Medical University of South Carolina, Johns Island, SC, ³⁴Columbia University Medical Center, New York, NY, ³⁵Mitogen Diagnostics Corp, Calgary, AB, Canada
Background/Purpose: Antinuclear antibody (ANA) immunofluorescence (IFA) patterns and titers are a key part of rheumatology diagnostics, however, there is considerable intra- and inter-laboratory variability with…
Abstract Number: 0479 • ACR Convergence 2024
Constructing and Using a Novel Nucleotide Transformer for Patients with Rheumatoid Arthritis
Shant Ayanian, Collin Osborne, Marc Blasi, Daniel Darveaux, Eric Klee and Elena Myasoedova, Mayo Clinic, Rochester, MN
Background/Purpose: Applying the methods of artificial intelligence (AI) to genomic data for clinical outcome prediction in rheumatoid arthritis (RA) is an area of growing research.…
Abstract Number: 1044 • ACR Convergence 2024
Analysis of Rheumatic Patients’ Self – Reported Symptoms in Free Written Text Using Natural Language Processing
Inés Pérez - Sancristóbal¹, Nils Steinz², Ling Qin², Tjardo Maarseveen³, Floor Zegers⁴ and Rachel Knevel², ¹Department of Rheumatology, Hospital Clinico San Carlos,, Madrid, Madrid, Spain, ²Department of Rheumatology, Leiden University Medical Center, Leiden, Netherlands, ³Department of Rheumatology, Leiden University Medical Center, Wormerveer, Netherlands, ⁴Deparment of Rheumatology, Leiden University Medical Center, Leiden, Netherlands
Background/Purpose: Patient-reported symptoms are crucial for medical anamnesis. Digital symptom checkers often use fixed questions, thereby potentially overlooking relevant symptoms. However, the reliability of self-reported…
Abstract Number: 1823 • ACR Convergence 2024
Identification and Prediction of Systemic Sclerosis Intrinsic Subtypes Using Semi-Supervised and Supervised Learning on Gene Expression Data of Multiple Cohorts
Zhiyun Gong¹, Rezvan Parvizi², Helen Jarnagin¹, Haobin Chen³, Madeline Morrisson⁴, Tammara Wood⁵, Monique Hinchcliff⁶ and Michael Whitfield², ¹Dartmouth College, Lebanon, NH, ²Geisel School of Medicine at Dartmouth, Hanover, NH, ³Dartmouth, Lebanon, NH, ⁴Geisel School of Medicine at Dartmouth College, Hanover, NH, ⁵Dartmouth, Hanover, NH, ⁶Yale School of Medicine, Westport, CT
Background/Purpose: Systemic Sclerosis (SSc) is a molecularly heterogeneous disease. Distinct subtypes of patients have been identified based on gene expression in skin. In this study,…
Abstract Number: 2646 • ACR Convergence 2024
Rare Variants in the IL1RAP Gene Implicate the IL-1 Signaling Pathway in the Pathogenesis of Systemic Sclerosis in African and European Ancestries
Yosuke Kunishita¹, Urvashi Kaundal², Martin Kerick³, Ryan Routsong⁴, Justin Lack⁴, Ami Shah⁵, Maureen Mayes⁶, Daniel Shriner⁷, Ayo P. Doumatey⁷, Amy Bentley⁷, Robyn Domsic⁸, Thomas Medsger, Jr⁹, Paula Ramos¹⁰, Richard Silver¹¹, Virginia Steen¹², John Varga¹³, Vivien Hsu¹⁴, Lesley Ann Saketkoo¹⁵, Dinesh Khanna¹³, Elena Schiopu¹⁶, Jessica Gordon¹⁷, Lindsey Criswell¹⁸, Heather Gladue¹⁹, Chris Derk²⁰, Elana Bernstein²¹, S. Louis Bridges¹⁷, Victoria Shanmugam²², Lorinda Chung²³, Suzanne Kafaja²⁴, Reem Jan²⁵, Marcin Trojanowski²⁶, Avram Goldberg²⁷, Benjamin Korman²⁸, James W. Thomas²⁹, Elaine Remmers³⁰, Adebowale Adeyemo⁷, Charles Rotimi⁷, Fredrick Wigley³¹, Francesco Boin³², Javier Martin³, Daniel Kastner³³ and Pravitt Gourh³⁴, ¹Scleroderma Genomics and Health Disparities Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ²Scleroderma Genomics and Health Disparities Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Chevy Chase, MD, ³Instituto de Parasitología y Biomedicina ‘López-Neyra’, CSIC, PTS Granada, Spain, Granada, Spain, ⁴Integrated Data Sciences Section, Research Technologies Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, ⁵Division of Rheumatology, Johns Hopkins University, Ellicott City, MD, ⁶UTHealth Houston Division of Rheumatology, Houston, TX, ⁷Center for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ⁸Division of Rheumatology and Clinical Immunology, University of Pittsburgh School of Medicine, Pittsburgh, PA, ⁹Division of Rheumatology and Clinical Immunology, University of Pittsburgh School of Medicine, Verona, PA, ¹⁰Medical University of South Carolina, Charleston, SC, ¹¹Division of Rheumatology and Immunology, Medical University of South Carolina, Charleston, SC, ¹²Georgetown University School of Medicine, Washington, DC, ¹³University of Michigan, Ann Arbor, MI, ¹⁴Department of Medicine, Rheumatology Division, Rutgers-RWJ Medical School, South Plainfield, NJ, ¹⁵New Orleans Scleroderma and Sarcoidosis Patient Care and Research Center, Louisiana State University and Tulane University Medical Schools, New Orleans, LA, ¹⁶Division of Rheumatology, Medical College of Georgia at Augusta University, Martinez, GA, ¹⁷Division of Rheumatology, Weill Cornell Medical College, New York, NY, ¹⁸Genomics of Autoimmune Rheumatic Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, Bethesda, MD, ¹⁹Arthritis & Osteoporosis Consultants of the Carolinas, Charlotte, NC, ²⁰Division of Rheumatology, University of Pennsylvania, Philadelphia, PA, ²¹Division of Rheumatology, Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY, ²²Office of Autoimmune Disease Research, Office of Research on Women's Health, National Institutes of Health, Great Falls, VA, ²³Stanford University, Woodside, CA, ²⁴Division of Rheumatology, University of California, Los Angeles, Los Angeles, CA, ²⁵Section of Rheumatology, Department of Medicine, University of Chicago, Chicago, IL, ²⁶Department of Rheumatology, Boston University School of Medicine, Boston, MA, ²⁷NYU Langone Health - NYU Hospital for Joint Diseases, Lake Success, NY, ²⁸University of Rochester, Rochester, NY, ²⁹NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ³⁰Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ³¹Johns Hopkins University, Division of Rheumatology, Baltimore, MD, Baltimore, MD, ³²Cedars-Sinai Medical Center, Los Angeles, CA, ³³National Human Genome Research Institute, Bethesda, MD, ³⁴National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, Bethesda, MD
Background/Purpose: Systemic sclerosis (SSc) is an autoimmune disease characterized by systemic inflammation and fibrosis. Interleukin-1 receptor accessory protein (IL1RAP) is a co-receptor for the Interleukin-1…
Abstract Number: 0484 • ACR Convergence 2024
Cluster Analysis Based on Joint Characteristics: A Study of Joint Involvement Profiles in Early Rheumatoid Arthritis (ERA) Patients in China
Yafang Deng¹, Chen Yu², Lin Qiao¹, Nan Jiang¹, Yanhong Wang³, Xinping Tian¹, Qian Wang¹, Mengtao Li⁴ and Xiaofeng Zeng¹, ¹Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China, ²Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Dong Cheng Qu, China (People's Republic), ³Department of Epidemiology and Biostatistics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China, ⁴Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China 2National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology, Beijing, China
Background/Purpose: Rheumatoid Arthritis (RA) is a chronic inflammatory autoimmune disorder characterized by aggressive articular damage, and articular symptoms are often the initial and significant clinical…
Abstract Number: 1325 • ACR Convergence 2024
The Association Between the Number of Teeth and All-Cause as Well as Cardiovascular Mortality Among Patients with RA: NHANES from 1999 to 2004
Jiaqian Zhang¹, Bo Chen², Geng Yin¹ and Qibing Xie³, ¹Department of Rheumatology and Immunology, chengdu, China (People's Republic), ²Chenbo, Chendu, Sichuan, China, ³Department of Rheumatology and Immunology, Chengdu, Sichuan, China
Background/Purpose: Cardiovascular Disease (CVD) is the main cause of death in patients with Rheumatoid Arthritis (RA), and a significant portion of CVD events occur in…
Abstract Number: 1857 • ACR Convergence 2024
Thymic Mimetic Cells in Humans, Mice and Fish Are Evolutionarily Ancient with Species-specific Adaptations
Brooke Huisman¹, Daniel Michelson¹, Sara Rubin¹, Katherine Kohlsaat², Wilson Gomarga², Yuan Fang¹, Ji Myung Lee², Pedro del Nido², Meena Nathan², Christophe Benoist¹, Leonard Zon² and Diane Mathis¹, ¹Harvard Medical School, Boston, MA, ²Boston Children's Hospital, Boston, MA
Background/Purpose: Thymic mimetic cells are molecular hybrids between medullary thymic epithelial cells (mTECs) and diverse peripheral cell types. They are involved in eliminating autoreactive T…
Abstract Number: 0492 • ACR Convergence 2024
A Machine Learning Model for the Early Identification of Rheumatoid Arthritis: Development and Validation
Michael Dreyfuss¹, Yonatan Jenudi², Dan Riesel³, Or Ramni³, Daniel Underberger⁴, Benjamin Getz⁵, Shlomit Steinberg-Koch³, Douglas White⁶ and Elena Myasoedova⁷, ¹Predicta Med, Ramat Gan, Israel, ²[email protected], Ramat Gan, Israel, ³Predicta Med Analytics Ltd., Ramat Gan, Israel, ⁴Predicta Med Analytics Ltd., Bridgeport, CT, ⁵CTO, Ramat Gan, Israel, ⁶Gundersen Health System, Onalaska, WI, ⁷Mayo Clinic, Rochester, MN
Background/Purpose: Patients with rheumatoid arthritis often experience clinically significant delays in diagnosis (Sørensen et al., 2015; Raza et al., 2011). RA can present similarly to…
Abstract Number: 1364 • ACR Convergence 2024
Machine Learning-Driven Models for Disease Activity Prediction and Therapeutic Response Evaluation in Rheumatoid Arthritis Patients: An Analysis of Data from the Multicentre, Prospective, Egyptian Collage of Rheumatology (ECR) Study Group
Nevin Hammam¹, Tarek Nahool², A. M. Yasser³, Eman F Mohamed⁴, Samar Tharwat⁵, Doaa Mosad Mosa⁶, Maha Nassr⁷, Faten Ismail⁸, Rawhya R El Shereef⁸, Nora Y. Elsaid⁹, Osman Hammam¹⁰, Suzan S. Al‑Adle⁹ and Tamer A Gheita¹¹, ¹Rheumatology Department, Faculty of Medicine, Assiut University, Assiut, Egypt, Boston, MA, ²University of the People, Pasadena, CA, USA, Qena, Egypt, ³Physics Department, Faculty of Science, South Valley University, Qena, Egypt; Alchemy Research, Alchemy Global Solutions, Abu Dhabi, UAE, Abu Dhabi, United Arab Emirates, ⁴Internal Medicine Department, Rheumatology Unit, Faculty of Medicine (Girls), Al-Azhar University, Cairo, Egypt, ⁵Rheumatology Unit, Internal Medicine, Mansoura University, Dakahlia, ⁶Rheumatology & Rehabilitation Department, Mansoura University Hospitals, Mansoura University Faculty of Medicine, Egypt, Dakahlia, Egypt, ⁷Rheumatology Department, Faculty of Medicine, Fayoum University, Fayoum, Egypt, Fayoum, Egypt, ⁸Rheumatology Department, Faculty of Medicine, Minia University, Minia, Egypt, ⁹Rheumatology Department, Faculty of Medicine, Cairo University, Cairo, Egypt, Cairo, Egypt, ¹⁰Department of Rheumatology and Rehabilitation, Faculty of Medicine, New Valley University, New Valley, Assiut, Egypt, ¹¹Rheumatology Department, Faculty of Medicine, Cairo University, Cairo, Egypt
Background/Purpose: Rheumatoid arthritis (RA) often exhibits fluctuating and challenging-to-assess clinical courses that lead to irreversible joint destruction. However, a "Treat-to-Target" strategy is recommended aiming to…
Abstract Number: 2151 • ACR Convergence 2024
Rheumatology on Reddit: A Descriptive Analysis
Alfredo Madrid García¹, Beatriz Merino Barbancho², Inés Pérez - Sancristóbal³, Dalifer Freites Nuñez⁴, Luis Rodriguez Rodriguez⁵, lydia Abasolo Alcazar⁶, Leticia Leon⁷ and Benjamin fernandez-Gutierrez⁷, ¹Fundación para la Investigación Biomédica del Hospital Clínico San Carlos (IDISCC), Madrid, Madrid, Spain, ²Life supporting technologies. Escuela Técnica Superior de Ingenieros de Telecomunicación. Universidad Politécnica de Madrid., Madrid, Spain, ³Department of Rheumatology, Hospital Clinico San Carlos,, Madrid, Madrid, Spain, ⁴Hospital Clínico San Carlos. Madrid. Spain., Madrid, Spain, ⁵Hospital Clinico San Carlos, Madrid, Madrid, Spain, ⁶IdISSC. HCSC, Madrid, Spain, ⁷Hospital Clinico San Carlos, Madrid, Spain
Background/Purpose: Over the past decade, social media data have gained special interest across various sectors, specially in medicine where these data are being utilized for…
Abstract Number: 0532 • ACR Convergence 2024
An Immune-molecular Signature Specifically Modulated by JAK Inhibitors Ex Vivo May Serve as a Predictor of Therapy Response In Vivo to These Drugs
Sagrario Corrales¹, Carlos Perez-Sanchez¹, Laura Muñoz-Barrera¹, Rafaela Ortega-Castro², Elena Moreno-Caño³, Jerusalén Calvo⁴, Concepción Aranda-Valera³, María Lourdes Ladehesa-Pineda⁵, Pilar Font¹, Ismael Sánchez Pareja¹, María Carmen Ábalos-Aguilera⁶, Desiree Ruiz-Vilchez⁴, Christian Merlo⁷, Mª Angeles Aguirre-Zamorano⁸, Tomás Cerdó¹, Nuria Barbarroja¹, Marta Alarcon-Riquelme⁹, Alejandro Escudero-Contreras¹ and Chary Lopez-Pedrera⁵, ¹IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, ²Hospital Reina Sofía, Cordoba, Andalucia, Spain, ³IMIBIC/Reina Sofia Hospital/University of Cordoba, Córdoba, Andalucia, Spain, ⁴IMIBIC/Reina Sofia Hospital/University of Cordoba, Córdoba, Spain, ⁵IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Andalucia, Spain, ⁶IMIBIC/Reina Sofia Hospital/University of Cordoba, CÓRDOBA, Spain, ⁷Rheumatology Service, Maimonides Institute of Biomedical Research of Cordoba (IMIBIC), Reina Sofia University Hospital, University of Cordoba, Cordoba, Spain, ⁸IMIBIC/Reina Sofia Hospital/University of Cordoba, CÓRDOBA, Andalucia, Spain, ⁹Fundación Progreso y Salud, Andalusian Government, Granada, Spain
Background/Purpose: Despite significant therapeutic advancements in rheumatoid arthritis (RA), a substantial proportion of patients (20-40%) remain unresponsive to current treatments, including targeted synthetic DMARDs. A…

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