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  • Abstract Number: 1249 • 2014 ACR/ARHP Annual Meeting

    Efficacy of Tocilizumab in Patients with Uveitis Refractory to Other Biologic Drugs: A Multicenter Study on 31 Cases

    Leyre Riancho-Zarrabeitia1, Vanesa Calvo-Río1, Ricardo Blanco1, Inmaculada Calvo2, Emma Beltrán-Catalán3, Alfredo Adan4, Marina Mesquida4, Maria Victoria Hernández5, Marisa Hernández6, Antonio Atanes-Sandoval7, Luis Francisco Linares Ferrando8, Olga Maiz Alonso9, Ana Blanco10, Beatriz Bravo11, Gisela Díaz-Cordovés12, Trinitario Pina1, Montserrat Santos-Gómez1 and Miguel A González-Gay1, 1Rheumatology, Hospital Universitario Marqués de Valdecilla. IDIVAL. Santander. Spain, Santander, Spain, 2Pediatric Rheumatology, Hospital La Fe. Valencia. Spain, Valencia, Spain, 3Rheumatology, Hospital General Universitario de Valencia. Spain, Valencia, Spain, 4Ophthalmology, Hospital Clinic. Barcelona. Spain, Barcelona, Spain, 5Rheumatology, Hospital Clínic of Barcelona. IDIBAPS. University of Barcelona, Barcelona, Spain, 6Ophthalmology, Hospital General Universitario de Valencia. Spain, Valencia, Spain, 7Rheumatology Division. C. Hospitalario Universitario A Coruña, A Coruña, Spain, 8Rheumatology, Hospital Virgen de la Arrixaca. Murcia. Spain, Murcia, Spain, 9Rheumatology, Hospital Universitario de Donostia. San Sebastián. Spain, San Sebastián, Spain, 10Ophthalmology, Hospital Universitario de Donostia. San Sebastián. Spain, San Sebastián, Spain, 11Pediatrics, Hospital Virgen de las Nieves. Granada, Granada, Spain, 12Rheumatology, Hospital Regional Universitario (Carlos Haya). Málaga. Spain., Málaga, Spain

    Background/Purpose: To evaluate the clinical response and safety of Tocilizumab (TCZ) in a series of patients with non-infectious uveitis refractory to other biologic drugs.Methods: Multicenter…
  • Abstract Number: 1248 • 2014 ACR/ARHP Annual Meeting

    Serologic and Clinical Overlap Between Sarcoidosis and the Rheumatic Autoimmume Diseases

    Sabrina Qazi1 and Marie Claire Maroun2, 1Internal Medicine-Rheumatology, Wayne State University, Detroit, MI, 2Rheumatology, Wayne State University, Detroit, MI

    Background/Purpose Sarcoidosis is a systemic inflammatory disorder of unknown etiology, characterized pathologically by noncaseating epithelioid cell granulomas, primarily affecting the lungs, the eye, the skin,…
  • Abstract Number: 1247 • 2014 ACR/ARHP Annual Meeting

    The Prevalence of Sacroiliitis and   Spondyloarthritis in Patients with Sarcoidosis

    Senol Kobak1, Fidan Sever2, Ozlem Ince3 and Mehmet Orman4, 1Rheumatology, SIFA UNIVERSITY, Izmir, Turkey, 2Chest Disease, Sifa University, Izmir, Turkey, 3Radiology, Sifa University, Izmir, Turkey, 4Ege University Department of Statistic, Associated Professor, Izmir, Turkey

    Background/Purpose: Sarcoidosis is a chronic granulomatous disease, which can involve different organs and systems. Coexistence of sarcoidosis and spondyloarthritis has been reported in numerous case…
  • Abstract Number: 1229 • 2014 ACR/ARHP Annual Meeting

    Is NOD2-Associated Autoinflammatory Disease Remotely Related to Familial Mediterranean Fever or Continuum of It?

    Min Shen1, Bo Shen2 and Qingping Yao3, 1Rheumatic and Immunologic Disease, Cleveland Clinic, Cleveland, OH, 2Gastroenterology, Cleveland Clinic, Cleveland, OH, 3Rheumatic and Immunologic Dis, Cleveland Clinic, Cleveland, OH

    Background/Purpose NOD2-associated autoinflammatory disease (NAID) is a newly described autoinflammatory disease characterized by periodic fever, dermatitis, polyarthritis, gastrointestinal and sicca symptoms. It is genotypically associated…
  • Abstract Number: 1228 • 2014 ACR/ARHP Annual Meeting

    Involvement of the IFN-Õ Pathway in a Patient with Candle Syndrome Carrying  a Novel Variant of PSMB8 Gene

    Antonella Insalaco1, Giusi Prencipe2, Manuela Pardeo3, Virginia Messia3, Andrea Masotti3, Cristina de Min4, Claudia Bracaglia2, Rebecca Nicolai3, Ivan Caiello2 and Fabrizio De Benedetti Sr.2, 1Department of Pediatric Medicine,, Division of Rheumatology, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy, 2Department of Pediatric Medicine, Division of Rheumatology, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy, 3Division of Rheumatology, Department of Pediatric Medicine, Ospedale Pediatrico Bambino Gesù, IRCCS, Roma, Italy, 4Novimmmune S.A., Plan-Les-Ouates, Geneva, Switzerland

    Background/Purpose: Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a newly described autoinflammatory disease. We describe clinical phenotype and cytokine profile…
  • Abstract Number: 1227 • 2014 ACR/ARHP Annual Meeting

    Cryopyrinopathy with a Myeloid-Specific NLRP3 Mutation

    Patrycja Hoffmann1, Qing Zhou2, Amanda Ombrello3, Anne Jones3, Beverly Barham3, Ivona Aksentijevich1 and Daniel L. Kastner4, 1Inflammatory Diseases Section, National Human Genome Research Institute, Bethesda, MD, 210 Centre Dr., Rm. B3-4129, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 3Inflammatory Diseases Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 4Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD

    Background/Purpose To identify the cause of disease in an adult patient who presented with recurrent fevers and urticaria which responded to IL-1 inhibition with anakinra.…
  • Abstract Number: 1226 • 2014 ACR/ARHP Annual Meeting

    Studying Patients with Autoinflammatory Diseases: The Past, Present, and a Perspective for the Future

    Jonathan S. Hausmann1,2, Catherine Biggs3, Donald P. Goldsmith4 and Fatma Dedeoglu1,5, 1Rheumatology, Boston Children's Hospital, Boston, MA, 2Rheumatology, Beth Israel Deaconess Medical Center, Boston, MA, 3Program in Rheumatology, Divison of Immunoloty, Boston Children's Hospital, Boston, MA, 4Pediatric Rheumaology, St Christopher's Hospital for Children/ Drexel College of Medicine, Philadelphia, PA, 5on behalf of CARRAnet Investigators, Palo Alto, CA

    Background/Purpose: Autoinflammatory diseases (AIDs) are uncommon disorders characterized by recurrent episodes of systemic and organ-specific inflammation.  Because of their rarity, finding large numbers of patients…
  • Abstract Number: 1225 • 2014 ACR/ARHP Annual Meeting

    Clinical Presentation and Cytokine Production Abnormalities in a Cohort of Patients Carrying NLRP12 GENE Variants

    Antonella Insalaco1, Luigi Raganelli2, Manuela Pardeo2, Virginia Messia2, Denise Pires Marafon2, Francesca Romana Lepri3, Elisa Pisaneschi3, Claudia Bracaglia4, Valeria Gerloni5, Rebecca Nicolai2, Elisabetta Cortis6, Fabrizio De Benedetti Sr.4 and Giusi Prencipe4, 1Department of Pediatric Medicine,, Division of Rheumatology, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy, 2Division of Rheumatology, Department of Pediatric Medicine, Ospedale Pediatrico Bambino Gesù, IRCCS, Roma, Italy, 3Cytogenetics, Ospedale Pediatrico Bambino Gesù, IRCCS, Roma, Italy, 4Department of Pediatric Medicine, Division of Rheumatology, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy, 5Pediatric Rheumatology Unit, Department of Rheumatology, Istituto Ortopedico Gaetano Pini, Milano, Italy, 6Division of Pediatric, Santa Maria della Stella Hospital, Orvieto, Italy

    Background/Purpose: The NLRP12 related autoinflammatory disorder (NLRP12-RD) is a rare autosomal dominant disease,caused by mutations in the NLRP12 gene.Clinical manifestations are extremely heterogeneous.We describe clinical…
  • Abstract Number: 1224 • 2014 ACR/ARHP Annual Meeting

    Pegloticase for Tophus Debulking: Comparison of Dual Energy Computerized Tomography (DECT), Musculoskeletal Ultrasound (MSK-US) and Topographic Caliper Measurement for Assessing Debulking Rate

    Dodji Modjinou1, Elaine Karis2, Soterios Gyftopoulos3, Jonathan Samuels4, Robert T. Keenan5, Daisy Bang6, Kristen Lee4, Svetlana Krasnokutsky-Samuels7, Daria B. Crittenden8 and Michael H. Pillinger8, 1Internal Medicine/Rheumatology, NYU/HJD, New York, NY, 2pending, pending, NY, 3Radiology, NYU Langone Medical Center/NYU Hospital for Joint Diseases, New York, NY, 4Rheumatology, NYU Langone Medical Center, New York, NY, 5Rheumatology, Duke University, Durham, NC, 6Division of Rheumatology, NYU School of Medicine, New York, NY, 7Rheumatology, NYU School of Medicine, New York, NY, 8NYU School of Medicine, Division of Rheumatology, New York, NY

    Background/Purpose: Pegloticase is approved for lowering serum urate (sUA) in chronic refractory tophaceous gout (CRTG), but the rate of tophus resolution is not well defined,…
  • Abstract Number: 1223 • 2014 ACR/ARHP Annual Meeting

    Enhancement of Proinflammatory Cytokine Production By Uric Acid in Human Cells Via Down Regulation of IL-1Ra

    Tania Crisan1, Maartje Cleophas2, Heidi Lemmers3, Helga Toenhake-Dijkstra1, Mihai Netea1, Tim Jansen4 and Leo Joosten1, 1Internal Medicine, Radboud University Medical Center, Nijmegen, Netherlands, 2Internal Medicine, Radboud Unversity Medical Center, Nijmegen, Netherlands, 3Internal Medicine, Radboud Univeristy Medical Center, Nijmegen, Netherlands, 4Rheumatology, Radboud University Medical Center, Nijmegen, Netherlands

    Background/Purpose Gout is an autoinflammatory disease characterized by the deposition of monosodium urate (MSU) crystals in the joints of hyperuricaemic patients and subsequent attacks of…
  • Abstract Number: 1222 • 2014 ACR/ARHP Annual Meeting

    Suppressive Effect of Butyrate on Monosodium Urate (MSU) Crystal-Induced IL-1beta Production Is Mediated Via Inhibition of Class I Histone Deacetylases

    Maartje Cleophas1, Tania Crisan2, Heidi Lemmers3, Helga Toenhake-Dijkstra2, Gianluca Fossati4, Tim Jansen5, Charles Dinarello6, Mihai Netea2 and Leo Joosten2, 1Internal Medicine, Radboud Unversity Medical Center, Nijmegen, Netherlands, 2Internal Medicine, Radboud University Medical Center, Nijmegen, Netherlands, 3Internal Medicine, Radboud Univeristy Medical Center, Nijmegen, Netherlands, 4Department of Preclinical Research and Development, Italfarmaco, Cinisello Balsamo, Italy, 5Rheumatology, Radboud University Medical Center, Nijmegen, Netherlands, 6Department of Medicine, Division of Infectious Diseases, University of Colorado, Denver, CO

    Background/Purpose Gouty arthritis is triggered by endogenously formed monosodium urate (MSU) crystals. MSU crystals alone are unable to induce cytokine production and therefore a second…
  • Abstract Number: 1221 • 2014 ACR/ARHP Annual Meeting

    Serum Uric Acid As an Independent Risk Factor on Progression of Chronic Kidney Disease in Gout Patients with Uric Acid Lowering Agent

    Young Hyup Lim1, Eun-Jung Park1, Seulkee Lee2, Hemin Jeong3, Hyungjin Kim4, Jinseok Kim1, Jaejoon Lee5, Hoon-Suk Cha3 and Eun-Mi Koh6, 1Internal Medicine, Department of Medicine, Jeju National University Hospital, Jeju University School of Medicine, Republic of Korea, Jeju, South Korea, 2Internal Medicine, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea, Seoul, South Korea, 3Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea, 4Internal Medicine, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea, Seul, South Korea, 5Division of Rheumatology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea, 6Internal Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea

    Background/Purpose Hyperuricemia is particularly common in patients with chronic kidney disease (CKD). Its role, however, as a risk factor for renal outcomes of CKD is…
  • Abstract Number: 1240 • 2014 ACR/ARHP Annual Meeting

    Efficacy of Anakinra in Refractory Adult-Onset Still´s Disease: Multicenter Study of 41 Patients

    Leyre Riancho-Zarrabeitia1, Ricardo Blanco1, Alejandro Olivé2, Anne Riveros-Frutos2, Santos Castañeda3, Maria Luisa Velloso Feijoo4, Javier Narváez5, Inmaculada Jiménez-Moleón6, Olga Maiz-Alonso7, Maria Carmen Ordóñez8, José Antonio Bernal9, M. Victoria Hernández10, Alberto Sifuentes Giraldo11, Catalina Gomez Arango12, Eva Galindez-Agirregoikoa12, Vera Ortiz-Santamaría13, Jordi del Blanco14, Juan Ramón De Dios15, Mireia Moreno16, Jordi Fiter17, Marina de los Riscos18, Patricia Carreira18, María José Rodríguez Valls Sr.19, Francisco Ortiz-Sanjuán1, Trinitario Pina Murcia20, Montserrat Santos-Gómez1 and Miguel A González-Gay1, 1Rheumatology, Hospital Universitario Marqués de Valdecilla. IDIVAL. Santander. Spain, Santander, Spain, 2Rheumatology, Hospital Universitario Germans Trias i Pujol, Badalona, Spain, 3Rheumatology, Hospital Universitario de La Princesa, IISP, Madrid, Spain, 4H Valme, Sevilla, Spain, 5Rheumatology, Hospital Universitario de Bellvitge. Barcelona. Spain, Barcelona, Spain, 6Rheumatology, Hospital San Cecilio, Granada, Spain, 7Rheumatology, HU Donostia, San Sebastián, Spain, 8Rheumatology, Hospital Regional Universitario Carlos Haya., Málaga, Spain, 9Rheumatology, HGU. Alicante., Alicante, Spain, 10Arthritis Unit, Department of Rheumatology, Hospital Clinic, Barcelona, Barcelona, Spain, 11Rheumatology, HU Ramón y Cajal, Madrid, Spain, 12Rheumatology, Hospital Universitario Basurto, Bilbao, Spain, 13Rheumatology, Hospital General. Granollers., Granollers, Spain, 14Rheumatology, H Sant Jaume, Calella, Spain, 15Rheumatology, HU Álava, Vitoria, Spain, 16Rheumatology, University Hospital Parc Taulí, Sabadell, Spain, 17Rheumatology, HU Son Espases. Palma de Mallorca., Palma de Mallorca, Spain, 18Rheumatology, Hospital Universitario 12 de Octubre, Madrid, Spain, 19Rheumatology, Rheumatolgy Unit. Hospital Jerez, Jerez, Spain, 20Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, Rheumatology Division, IDIVAL, Santander, Spain

    Background/Purpose: Adult-onset Still's disease (AOSD) is frequently refractory to standard therapy. Anakinra (ANK), an interleukin-1 (IL-1) receptor antagonist, has demonstrated efficacy in single cases or…
  • Abstract Number: 1239 • 2014 ACR/ARHP Annual Meeting

    Is Lymphocytic Sialadenitis IgG4-Related?

    Nathalie Shehwaro1, Murielle Hourseau2, Thomas Papo3 and Karim Sacre4, 1Internal Medicine, University Paris-7, APHP, Bichat Hospital, Paris, France, 2Pathology, University Paris-7, APHP, Bichat Hospital, Paris, France, 3Internal Medicine, Bichat Hospital, Paris, Paris, France, 4Internal Medicine, University Paris-7, INSERM U699, APHP, Bichat Hospital, Paris, France

    Background/Purpose: To assess the prevalence of IgG4-related disease among patients with lymphocytic sialadenitis on labial salivary gland biopsy. Methods: All labial salivary gland biopsies (LSGB)…
  • Abstract Number: 1238 • 2014 ACR/ARHP Annual Meeting

    Proportion of Peripheral Plasmacytoid Dendritic Cells and Plasmablasts Reflects Disease Activity in IgG4-related Disease

    Mitsuhiro Akiyama1, Katsuya Suzuki1, Yoshiaki Kassai2, Takahiro Miyazaki2, Rimpei Morita3, Akihiko Yoshimura3 and Tsutomu Takeuchi1, 1Division of Rheumatology, Department of Internal Medicine, Keio University School of Medicine, Tokyo, Japan, 2Inflammation Drug Discovery Unit, Takeda Pharmaceutical Company Limited, Kanagawa, Japan, 3Department of Microbiology and Immunology, Keio University School of Medicine, Tokyo, Japan

    Background/Purpose Immunoglobulin (Ig) G4-related disease (IgG4-RD) is a recently recognized fibro-inflammatory disease with multi-organ system involvement. Affected patients frequently have a history of bronchial asthma and allergic rhinitis. The reported pathogenesis of IgG4-RD describes the clear involvement of excessive Th2 cells and regulatory immune reaction in addition to plasma cells 1). However, peripheral immune cell phenotype, which reflects disease status, has not been comprehensively evaluated. Our aim was to definitively determine peripheral blood cell abnormalities and their correlation with disease activity in patients with IgG4-RD.Methods Peripheral blood samples were obtained from active untreated IgG4-RD patients (n=11) and healthy controls (n=16). Comprehensive immunophenotyping assay with information on activation status was done by multi-color flow cytometry, and the proportion of peripheral blood mononuclear cells (PBMCs), including T cells (naïve/memory, Th1/2/17, Treg, and Tfh), B cells (naïve/memory, plasmablast, Breg), monocytes (classical, intermediate, non-classical) and dendritic cells (myeloid, plasmacytoid), and their activity status were precisely defined. Disease activity was measured using the IgG4-RD responder index (RI). Statistical analysis was done using the Mann-Whitney U test and Spearman rank correlation coefficient test.Results The proportion of plasmablasts (CD19+CD20-CD27+CD38+), memory Th2 cells (CD3+CD4+CXCR3-CCR6-CD45RA-), Tregs (CD3+CD4+CD25+CD127low), Tfh (CD3+CD4+CXCR5+), and mDCs (CD3-CD19-CD14-HLA-DR+CD1c+CD303-) in peripheral blood was significantly increased in IgG4-RD patients compared with HC, whereas the proportion of pDCs (CD3-CD19-CD14-HLA-DR+CD1c-CD303+)was significantly decreased. Interestingly, the proportion of pDCs in total DCs was negatively correlated with IgG4-RD RI (r=-0.778, p=0.005) while the proportion of plasmablasts in CD19+cells was positively correlated with RI (r=0.701, p=0.016). Further, the increased proportion of plasmablasts was positively correlated with serum IgG4 level (r=0.718, p=0.013) while the decreased proportion of pDCs tended to be negatively correlated with the number of affected organs (r=-0.518, p=0.061). Conclusion Our comprehensive analysis identified distinct proportional changes in PBMCs in IgG4-RD. In particular, the decrease in pDCs and increase in plasmablasts were strongly linked with disease activity. These combined measurements are expected to be clinically useful surrogate cell markers. This newly identified decrease in circulating pDCs may be involved in the pathogenesis in IgG4-RD via the recently described role in the enhancement of Th2 response 2).References: 1) Stone JH et.al. N Engl J Med 2012;366:539-51            2) Maazi H et.al. Allergy 2013;68:695-701
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