Abstracts Archive - Page 992 of 2607 - ACR Meeting Abstracts

Abstract Number: 778 • 2019 ACR/ARP Annual Meeting
Multiple Genetic Diagnoses in a Cohort of Patients with Cryopyrin Associated Periodic Syndrome (CAPS)
Sofia Torreggiani¹, Megha Garg ², Sara Alehashemi ³, Kim johnson ¹, Jenna Wade ⁴, Lena Bichell ⁴, Magdalena Walkiewicz ⁵, Adriana de Jesus ⁶ and Raphaela Goldbach-Mansky ³, ¹Translational and Autoinflammatory Diseases Section/NIAID/NIH, Bethesda, MD, ²Rochester Regional Health, Rochester, NY, ³Translational Autoinflammatory Diseases Section/NIAID/NIH, Bethesda, MD, ⁴Translational Autoinflammatory Diseases Section/NIAID/NIH, Bethesda, ⁵Division of Intramural Research (DIR)/NIAID/NIH, Bethesda, MD, ⁶Translation Autoinflammatory Diseases Section/NIAID/NIH, Silver Spring, MD
Background/Purpose: Cryopyrin associated periodic syndrome (CAPS) is an autosomal dominant autoinflammatory disease caused by mutations in NLRP3. CAPS comprises 3 clinical phenotypes of increasing severity:…
Abstract Number: 779 • 2019 ACR/ARP Annual Meeting
The Juvenile Idiopathic Arthritis-Associated IL2RA Haplotype Contains an Intronic Enhancer Whose Function Is Diminished by JIA-Associated Genetic Variants
Kaiyu Jiang ¹, Yungki Park ¹, Tarbell Evan ¹, Tao Liu ² and James N. Jarvis³, ¹University at Buffalo Jacobs School of Medicine, Buffalo, NY, ²Roswell Park Cancer Instiyute, Buffalo, NY, ³University at Buffalo, Jacobs School of Medicine and Biomedical Sciences, Buffalo, NY
Background/Purpose: IL2RA has been identified as a JIA-associated risk locus using both candidate gene and genetic fine mapping approaches. However, numerous gene expression studies comparing…
Abstract Number: 780 • 2019 ACR/ARP Annual Meeting
Changes in MiR-17-92 Cluster Expression Link Systemic Juvenile Idiopathic Arthritis, Monocyte-to-Macrophage Differentiation, and Interferon Regulation
Divya Takellapti¹, Xiaoling Niu ², Thuy Do ³ and Grant Schulert ³, ¹Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ²Fudan University, Shanghai, Shanghai, China (People's Republic), ³Division of Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
Background/Purpose: MicroRNAs (miRNAs) are small noncoding RNAs which post-transcriptionally regulate gene expression. The miR-17-92 cluster is well characterized; its overexpression has been found to serve…
Abstract Number: 781 • 2019 ACR/ARP Annual Meeting
Is down Syndrome Associated Arthritis (DA) a Distinct Disease from Juvenile Idiopathic Arthritis (JIA)?
Charlene Foley¹, Achilleas Floudas ², Sharon Ansboro ², Mary Canavan ², Monika Biniecka ², Emma Jane MacDermott ³, Ronan Mullan ⁴, Gerry Wilson ⁵, Ursula Fearon ⁶ and Orla Killeen ⁷, ¹Great Ormond Street Hospital, London, Ireland, ²TBSI, Dublin, Ireland, ³OLCHC, Dublin, Ireland, ⁴Tallaght Hospital, Dublin, Ireland, ⁵UCD, Dublin, Ireland, ⁶TBSI, Dublin, ⁷National Centre for Paediatric Rheumatology (NCPR), Our Lady’s Children’s Hospital Crumlin (OLCHC), Dublin, Ireland
Background/Purpose: Down syndrome associated Arthritis (DA) is 20 times more common than JIA. It is an erosive, polyarticular RF negative arthritis with predominance in the…
Abstract Number: 782 • 2019 ACR/ARP Annual Meeting
Oligoarticular Juvenile Idiopathic Arthritis Displayed Increased Expression of Co-Inhibitory Receptors Without Signs of T-Cell Exhaustion
Erdal Sag¹, Selcan Demir ², Morten A. Nielsen ³, Malene Hvid ⁴, Egemen Turhan ⁵, Yelda Bilginer ², Seza Ozen ⁶ and Bent Deleuran ⁷, ¹Hacettepe University, Ankara, Turkey, ²Division of Pediatric Rheumatology, Department of Pediatrics, Hacettepe University, Ankara, Turkey, ³Department of Biomedicine, Aarhus University, Aarhus, Denmark, ⁴Department of Biomedicine; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark, ⁵Department of Orthopedics and Traumatology, Hacettepe University, Ankara, Turkey, ⁶Hacettepe University Hospital, Ankara, Turkey, ⁷Department of Biomedicine; Department of Rheumatology, Aarhus University, Aarhus, Denmark
Background/Purpose: Activated T cells are involved in the pathogenesis of the synovitis in oligoarticular Juvenile Idiopathic Arthritis (o-JIA). T cell activation is counter-balanced via co-inhibitory…
Abstract Number: 783 • 2019 ACR/ARP Annual Meeting
Differences in Chromatin Architecture in Treatment Naïve Pediatric Lupus Patients
Joyce Hui-Yuen¹, Frank Jenkins ², Kaiyu Jiang ³, Susan Malkiel ², Betty Diamond ⁴ and James N. Jarvis ⁵, ¹Cohen Children's Medical Center, Northwell Health, New Hyde Park, NY, ²Feinstein Institute for Medical Research, Manhasset, ³University at Buffalo Jacobs School of Medicine, Buffalo, NY, ⁴Feinstein Institutes for Medical Research, Manhasset, ⁵University at Buffalo, Jacobs School of Medicine and Biomedical Sciences, Buffalo, NY
Background/Purpose: Systemic lupus erythematosus (SLE) is a complex disease likely triggered by gene-environment interactions. We have shown that most of the SLE-associated haplotypes encompass genomic…
Abstract Number: 784 • 2019 ACR/ARP Annual Meeting
Application of Systems Biology-Based In Silico Tools for Optimal Treatment Strategy Identification in Still’s Disease
Cristina Segu-Verges¹, Mireia Coma ¹, Christoph Kessel ², Serge Smeets ³, Dirk Foell ² and Anna Aldea ⁴, ¹Anaxomics, Barcelona, Catalonia, Spain, ²University Hospital Muenster, Muenster, Germany, ³Novartis, Amsterdam, Netherlands, ⁴Novartis, Barcelona, Catalonia, Spain
Background/Purpose: Systemic JIA (sJIA) and Adult Onset Still’s Disease may represent a disease continuum1 of the same autoinflammatory disorder, Still’s Disease. Current challenges in its…
Abstract Number: 785 • 2019 ACR/ARP Annual Meeting
Predictors of Response to Tumour Necrosis Factor – α Inhibitors (TNFi) in Juvenile Idiopathic Arthritis (JIA): A Single-center Experience
Muhammad Shipa¹, Anastasia-vasiliki Madenidou ², vera Choida ¹, Anna Radziszewska ³, corinne fisher ⁴, coziana ciurtin ¹, maria Leandro ¹ and Debajit Sen ¹, ¹Centre for Adolescent Rheumatology versus Arthritis at UCL, UCLH and GOSH, London, UK, London, United Kingdom, ²Centre for Adolescent Rheumatology, University College London London, UK, LOndon, ³University College London, London, United Kingdom, ⁴Centre for Adolescent Rheumatology versus Arthritis at UCL, UCLH and GOSH, London, UK, lonodn, United Kingdom
Background/Purpose: Biologics have transformed the treatment of Juvenile idiopathic arthritis (JIA) and escalation toTumour Necrosis Factor - α inhibitors (TNFi) after failure of methotrexate (MTX)…
Abstract Number: 786 • 2019 ACR/ARP Annual Meeting
Distinguishing S100 Proteins and Cytokine Levels Between Active and Inactive Uveitis in Children with Juvenile Idiopathic Arthritis
Jackeline Rodriguez-Smith¹, Virginia Utz ², Sherry Thornton ¹, Grant Schulert ¹, Adam Kauffman ³, Alyssa Sproles ¹, Najima Mwase ¹, Theresa Hennard ⁴, Alexei A. Grom ¹, Mekibib Altaye ⁵, Gary Holland ⁶ and Sheila Angeles-Han ⁷, ¹Division of Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ²Division of Ophthalmology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ³Cincinnati Eye Institute and Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁴Division of Rheumatology, Cincinnati Children's Hospital and Medical Center, Cincinnati, OH, ⁵Divison of Biostatistics and Epidemiology and Department of Pediatrics, University of Cincinnati, Cincinnati, OH, ⁶UCLA Stein Eye Institute and David Geffen School of Medicine at University of California, Los Angeles, Ca, Los Angeles, CA, ⁷Division of Rheumatology, Cincinnati Children's Hospital Medical Center, Cinicinnati
Background/Purpose: Uveitis occurs in 10-20% of children with Juvenile Idiopathic Arthritis (JIA) and is typically asymptomatic. Ocular complications occur in 50% of children, (i.e. cataracts,…
Abstract Number: 787 • 2019 ACR/ARP Annual Meeting
Complement Protein Levels Reflect Disease Activity in Juvenile Idiopathic Arthritis
Mia Glerup¹, Steffen Thiel ², Veronika Rypdal ³, Ellen Dalen Arnstadt ⁴, Maria Ekelund ⁵, Suvi Peltoniemi ⁶, Kristiina Aalto ⁶, Marite Rygg ⁷, Susan Nielsen ⁸, Anders Fasth ⁹, Lillemor Berntson ¹⁰, Ellen Nordal ³ and Troels Herlin ¹¹, ¹Dept of Pediatrics, Aarhus University Hospital, Aarhus, Denmark, Aarhus, Denmark, ²Department of Biomedicine, Aarhus University, Aarhus, Denmark, Aarhus, Denmark, ³Department of Pediatrics, University Hospital of North Norway, and Department of Clinical Medicine, UiT The Arctic University of Norway, Tromsø, Norway., Tromsø, Norway, ⁴Department of Clinical and Molecular Medicine, NTNU - Norwegian University of Science and Technology, and Department of Pediatrics, Levanger Hospital, Nord-Trøndelag Hospital Trust, Levanger, Norway., Trondheim, Norway, ⁵Department of Women’s and Children’s Health, Uppsala University, Uppsala, Sweden. Department of Pediatrics, Ryhov County Hospital, Jonkoping, Sweden., Jonkoping, Sweden, ⁶Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland., Helsinki, Finland, ⁷Department of Clinical and Molecular Medicine, NTNU - Norwegian University of Science and Technology and Department of Pediatrics, St. Olavs Hospital, Trondheim, Norway., Tromsø, Norway, ⁸Department of Pediatrics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Copenhavn, Denmark, ⁹Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Gothenburg, Sweden, ¹⁰Department of Women’s and Children’s Health, Uppsala University, Uppsala, Sweden., Uppsala, Sweden, ¹¹Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark., Aarhus, Denmark
Background/Purpose: There is an increasing body of evidence that inadequately controlled activation of complement factors leading to either overactivity or deficiency may be involved in…
Abstract Number: 788 • 2019 ACR/ARP Annual Meeting
Type I Interferon Score and Interferon Induced Mediators CXCL10 and Neopterin Are Correlated with Disease Activity in Juvenile Dermatomyositis
Rebecca Nicolai¹, Ivan Caiello ², Rava' Lucilla ³, Silvia Rosina ⁴, Francesco Licciardi ⁵, Luisa Bracci Laudiero ², Angelo Ravelli ⁶, Fabrizio De Benedetti ⁷ and Gian Marco Moneta ², ¹Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, Rome, Lazio, Italy, ²Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, Rome, Italy, ³Clinical Epidemiology Unit, Ospedale Pediatrico Bambino Gesù, Roma, Italy, Rome, Italy, ⁴Giannina Gaslini Institute, IRCCS Clinica Pediatrica e Reumatologia, Genoa, Italy, Genoa, Italy, ⁵Division of Pediatric Immunology and Rheumatology, Regina Margherita Children Hospital,Turin, Italy, Turin, Italy, ⁶IRCCS Istituto Giannina Gaslini, Università degli Studi di Genova, Genova, Italy, ⁷Bambino Gesù Children’s Hospital, Rome, Italy
Background/Purpose: Interferons (IFNs) seem to play an important role in the pathogenesis of juvenile dermatomyositis (JDM). Our group previously reported that expression of both type…
Abstract Number: 789 • 2019 ACR/ARP Annual Meeting
DNASE1L3 Variant in Hypocomplementemic Urticarial Vasculitis Syndrome Identifies a Different Clinical Phenotype
Marco Ranalli ¹, Chiara Passarelli ², Virginia Messia ³, Manuela Pardeo ³, Emanuela Sacco ⁴, Antonella Insalaco ³, Marina Vivarelli ⁵, Fabrizio De Benedetti ⁶ and Claudia Bracaglia⁷, ¹Pediatric Department, La Sapienza University of Rome, Rome, Italy, Rome, Italy, ²Unit of Laboratory of Medical Genetics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, Rome, Italy, ³Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, Rome, Italy, ⁴Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, Rome, ⁵Division of Nephrology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, Rome, Italy, ⁶Bambino Gesù Children’s Hospital, Rome, Italy, ⁷Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
Background/Purpose: Hypocomplementemic urticarial vasculitis syndrome (HUVS) is a rare disease characterized by persistent urticarial lesions and hypocomplementemia associated with systemic features involving musculoskeletal, pulmonary, renal…
Abstract Number: 790 • 2019 ACR/ARP Annual Meeting
Can High ANA Titre Combined with Clinical Features Predict Developing Autoimmune Conditions in Children?
Ovgu Kul Cinar¹, Charlene Foley ², Ali Al-Hussain ³, Kimberly Gilmour ⁴, Matthew Buckland ⁴ and Muthana Al-Obaidi ⁵, ¹Great Ormond Street Hospital, Lonodn, United Kingdom, ²Great Ormond Street Hospital, London, Ireland, ³Great Ormond Street Hospital, London, United Kingdom, ⁴Great Ormond Street Hospital NHS Trust, Camelia Botnar Laboratories, London, United Kingdom, ⁵Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom
Background/Purpose: Antinuclear antibodies (ANA) are autoantibodies that recognise cellular antigens found predominantly in the cell nucleus. They are associated with numerous autoimmune diseases such as…
Abstract Number: 791 • 2019 ACR/ARP Annual Meeting
Closing the Seronegative Gap in Pediatric Localized Scleroderma and Systemic Sclerosis
May Choi¹, Emily Mirizio ², Fernanda Quinteros ³, Katherine Buhler ⁴, Marvin Fritzler ¹ and Kathryn Torok ⁵, ¹Cumming School of Medicine, University of Calgary, Calgary, AB, Canada, ²University of Pittsburgh, Pittsburgh, ³University of Calgary, Calgary, ⁴University of Calgary, Calgary, Canada, ⁵UPMC Children's Hospital of Pittsburgh, Pittsburgh
Background/Purpose: It has become increasingly recognized that extra-cutaneous manifestations, such as musculoskeletal and neurologic involvement, are common in pediatric patients with localized scleroderma (LS). We…
Abstract Number: 792 • 2019 ACR/ARP Annual Meeting
Speckle Tracking Echocardiography, a Sensitive Tool to Detect Early Cardiac Dysfunctions in Juvenile Systemic Sclerosis
Giovanni Civieri ¹, Biagio Castaldi ¹, Giorgia Martini ¹, Alessandra Meneghel ¹, Ornella Milanesi ¹ and Francesco Zulian², ¹Dept. of Woman's and Child's Health, university of Padua, Italy, Padua, Italy, ²Department of Woman and Child Health, University of Padua, Italy, Padova, Italy
Background/Purpose: Juvenile Systemic Sclerosis (JSSc) is a rare connective tissue disease in which cardiac involvement is burdened by high morbidity and mortality. The traditional cardiac…

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