Abstracts tagged "differential diagnosis"

Abstract Number: 109 • 2020 Pediatric Rheumatology Symposium
Incidence, Contributing Factors, and Impact of Diagnostic Delay in Juvenile Idiopathic Arthritis: Analysis of the Childhood Arthritis and Rheumatology Research Alliance (CARRA) Registry
Mei-Sing Ong¹, Gordon Schiff ² and Marc Natter ³ for the CARRA investigators, ¹Harvard Medical School & Harvard Pilgrim Healthcare Institute, Boston, ²Harvard Medical School, Boston, ³Boston Children's Hospital, Boston
Background/Purpose: While early treatment of patients with newly diagnosed juvenile idiopathic arthritis (JIA) is an area of active study, delayed diagnosis of JIA is poorly…
Abstract Number: 1854 • 2019 ACR/ARP Annual Meeting
The Utility of Fat Lesions in Close Relation to Other Structural MRI Lesions in the Sacroiliac Joints for Diagnosing Patients with Axial Spondyloarthritis
Sengül Seven¹, Mikkel Østergaard ², Lone Morsel-Carlsen ³, inge Juul Sørensen ¹, Birthe Bonde ⁴, Gorm Thamsborg ⁵, Jens Jørgen Lykkegaard ¹, Oliver Hendricks ⁶, Niklas Rye Jørgensen ⁷ and Susanne Juhl Pedersen ⁸, ¹Copenhagen Center for Arthritis Research, Center for Rheumatology and Spine Diseases, Rigshospitalet, Glostrup, Denmark, Glostrup, Denmark, ²Copenhagen Center for Arthritis Research, University of Copenhagen, Copenhagen, Denmark, ³Department of Radiology, Rigshospitalet, Glostrup, Denmark, Glostrup, Denmark, ⁴The Birthe Bonde Clinic of Physioterapy, Copenhagen, Denmark, Glostrup, Denmark, ⁵Center for Rheumatology and Spine Diseases, Rigshospitalet, Copenhagen, Denmark, Copenhagen, Hovedstaden, Denmark, ⁶Danish Hospital for Rheumatic Diseases, Sønderborg, Denmark, Sønderborg, Denmark, ⁷Department of Clinical Biochemistry, Rigshospitalet, Glostrup, Denmark, Glostrup, Denmark, ⁸Copenhagen Center for Arthritis Research, Center for Rheumatology and Spine Diseases, Rigshospitalet, Copenhagen, Denmark, Copenhagen, Hovedstaden, Denmark
Background/Purpose: Bone marrow edema on MRI of the sacroiliac joints (SIJ) plays an important role in the ASAS (Assessment of Spondyloarthritis International Society) classification criteria…
Abstract Number: 1899 • 2019 ACR/ARP Annual Meeting
sFlt-1, PlGF and VEGF in the Differential Diagnosis Between Active SLE Nephritis During Pregnancy and Preeclampsia
Guilherme De Jesus¹, Marcela Lacerda ¹, Bruna Rodrigues ¹, Flavia dos Santos ¹, Adriana Nascimento ¹, Luis Cristóvão Porto ¹, Nilson Ramires de Jesús ¹, Roger Levy ² and Evandro Klumb ¹, ¹Universidade do Estado do Rio de Janeiro, Rio de Janeiro, Brazil, ²GlaxoSmithKline, Upper Providence, PA
Background/Purpose: Pregnancy in patients with SLE is associated with significant morbidity and mortality. SLE activity during pregnancy, specifically nephritis, makes the differential diagnosis with preeclampsia…
Abstract Number: 186 • 2018 ACR/ARHP Annual Meeting
The Accuracy and Potential Impact of a Diagnostic Decision Support System in Rare Disease Cases
Simon Ronicke^1,2, Martin C. Hirsch³, Ewelina Türk³, Katharina Larionov², Daphne Tientcheu² and Annette D. Wagner², ¹Ada Health GmbH, Belrin, Germany, ²Nephrology, Medical School Hannover, Hannover, Germany, ³Ada Health GmbH, Berlin, Germany
Background/Purpose: Diagnosis in rare diseases cases is often delayed by several years. Main factors for delayed diagnosis are believed to be lack of awareness and…
Abstract Number: 1372 • 2017 ACR/ARHP Annual Meeting
A Single Immunosignature Test Accurately Discriminates RA from Related Autoimmune and Inflammatory Disorders
Theodore M. Tarasow¹, Robert Gerwien¹, Jonathan Melnick¹, Scott A. Melville¹ and Chaim Putterman², ¹HealthTell, Inc., San Ramon, CA, ²Division of Rheumatology, Albert Einstein College of Medicine, Bronx, NY, USA, Bronx, NY
Background/Purpose: Rheumatoid Arthritis (RA) is a chronic inflammatory autoimmune disease primarily targeting the synovium. RA is B-cell driven, and is associated with autoantibody production. The…
Abstract Number: 130 • 2017 Pediatric Rheumatology Symposium
Validation of MRP8/14 serum levels as biomarker for the diagnosis of systemic juvenile idiopathic arthritis in fever of unknown origin
Dirk Holzinger¹, Carolin Pretzer², Maria Miranda-Garcia^2,3, Hans Huppertz⁴, Gerd Horneff⁵, Johannes Peter Haas⁶, Gerd Ganser⁷, Jasmin B. Kuemmerle-Deschner⁸, Michael Frosch⁹, Johannes Roth¹⁰ and Dirk Foell², ¹Department of Pediatric Rheumatology and Immunology, University of Muenster, Muenster, Germany, ²Pediatric Rheumatology and Immunology, University of Muenster, Muenster, Germany, ³Federal Institute for Vaccines and Biomedicines, Paul-Ehrlich-Institute, Langen, Germany, ⁴Prof Hess Children’s Hospital Bremen, Bremen, Germany, ⁵Department of Pediatrics, Asklepios Clinics St. Augustin, Sankt Augustin, Germany, ⁶Centre for Pediatric Rheumatology Garmisch-Partenkirchen, Garmisch-Partenkirchen, Germany, ⁷Pediatric Rheumatology, Sankt Josef Stift Sendenhorst, Sendenhorst, Germany, ⁸Pediatrics, University Hospital Tuebingen, Tuebingen, Germany, ⁹Pediatric Pain Centre,, Children's and Adolescents' Hospital Datteln, Datteln, Germany, ¹⁰Institute of Immunology, University of Muenster, Muenster, Germany
Background/Purpose: The differential diagnosis of fever of unknown origin (FUO) is a major challenge in pediatrics especially for differentiation of systemic-onset juvenile idiopathic arthritis (SJIA)…
Abstract Number: 108 • 2017 Pediatric Rheumatology Symposium
Characteristics and long-term outcome of children and adolescents with initial diagnosis of Behçet’s disease in a tertiary care center in Brazil
Milagro Raquel Tovar-Avila¹, Francisco Hugo Gomes², Lucenir Da Silva³, Virginia Ferriani⁴ and Luciana Carvalho², ¹Pediatric Reumatology Division, Ribeirão Preto Medical School - University of São Paulo, Rbeirão Preto, Brazil, ²Pediatric Rheumatology Division, Ribeirão Preto Medical School - University of São Paulo, Ribeirão Preto, Brazil, ³Rheumatology Division, Ribeirão Preto Medical School - University of São Paulo, Ribeirão Preto, Brazil, ⁴Pediatric Reumatology Division, Ribeirão Preto Medical School - University of São Paulo, Ribeirão Preto, Brazil
Background/Purpose: Behet's disease (BD) is a rare systemic inflammatory disease with nonspecific clinical presentation that can mimic infections, tumors and other diseases. Diagnostic delay of…
Abstract Number: 1355 • 2016 ACR/ARHP Annual Meeting
ASAH1 Gene Mutations Cause Acid Ceramidase Deficiency (Farber Disease), with Symptoms Including Arthritis and Subcutaneous Nodules. Patients Are Often Misdiagnosed with JIA, and Slowly Progressive Disease May Only be Diagnosed in Adulthood
Alexander Solyom¹, Calogera Simonaro² and Edward Schuchman³, ¹Roivant Sciences, New York, NY, ²Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, ³Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY
Background/Purpose: Mutations in the ASAH1 gene cause acid ceramidase deficiency, accumulation of the pro-inflammatory and pro-apoptotic lipid ceramide, and a distinct set of clinical features,…
Abstract Number: 2952 • 2016 ACR/ARHP Annual Meeting
Differentiation Between Neurosarcoidosis and Primary CNS Vasculitis Based on Clinical and Cerebrospinal Fluid Parameters
Didem Saygin¹, Leonard H. Calabrese², Elisabeth Ray¹, William Messner³, Jinny Tavee⁴ and Rula A Hajj-Ali⁵, ¹Rheumatology, Cleveland Clinic, Cleveland, OH, ²Rheumatic & Immunologic Disease, Cleveland Clinic, Cleveland, OH, ³Quantitative Health Sciences, Cleveland Clinic, Cleveland, OH, ⁴Neuromuscular diseases, Cleveland Clinic, Cleveland, OH, ⁵Rheumatic and Immunologic Dis, Cleveland Clinic, Cleveland, OH
Background/Purpose: Neurosarcoidosis is one of the great mimickers of primary angiitis of central nervous system (PACNS) in terms of disease presentation, imaging and pathologic findings.…
Abstract Number: 621 • 2015 ACR/ARHP Annual Meeting
Previous Diagnosis of Sjögren’s Syndrome As Rheumatoid Arthritis or Systemic Lupus Erythematosus
Astrid Rasmussen¹, Lida Radfar², Kiely Grundahl³, David M. Lewis⁴, Donald U Stone^5,6, C. Erick Kaufman⁷, Daniel J Wallace⁸, Michael H. Weisman⁹, Swamy Venuturupalli¹⁰, Christopher J Lessard¹¹, Biji Kurien¹², Juan-Manuel Anaya¹³, Michael D. Rohrer¹⁴, Raj Gopalakrishnan¹⁵, Glen D Houston¹⁶, James Chodosh¹⁷, Pamela J Hughes¹⁸, Nelson L. Rhodus¹⁹, John Ice¹, Kimberly Hefner²⁰, Jennifer A. Kelly²¹, Kathy L. Sivils¹ and R. Hal Scofield^1,22,23, ¹Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, ²Oral Diagnosis and Radiology Department, University of Oklahoma Health Sciences Center College of Dentistry, Oklahoma City, OK, ³Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma CIty, OK, ⁴College of Dentistry, Department of Oral and Maxillofacial Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, ⁵Department of Ophthalmology, Johns Hopkins University, Riyadh, Saudi Arabia, ⁶Research Department, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia, ⁷College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK, ⁸Division of Rheumatology, Cedars-Sinai Medical Center, Los Angeles, CA, ⁹Rheumatology, Cedars-Sinai Medical Center, Los Angeles, CA, ¹⁰Cedars-Sinai Medical Center, West Hollywood, CA, ¹¹Arthritis and Clinical Immunology, Oklahoma Medical Research Foundation, Oklahoma City, OK, ¹²Arthritis and Immunology, Oklahoma Medical Research Foundation, Oklahoma City, OK, ¹³Center for Autoimmune Diseases Research (CREA), Universidad del Rosario., Bogota, Colombia, ¹⁴Hard Tissue Research Laboratory, University of Minnesota School of Dentistry, Minneapolis, MN, ¹⁵Diagnostic and Biological Sciences, Division of Oral Pathology, University of Minnesota, Minneapolis, MN, ¹⁶Heartland Pathology, Oklahoma City, OK, ¹⁷Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, ¹⁸Division of Oral and Maxillofacial Surgery, University of Minnesota, Minneapolis, MN, ¹⁹Department of Oral Surgery, University of Minnesota School of Dentistry, Minneapolis, MN, ²⁰Hefner Eye Care and Optical Center, Oklahoma City, OK, ²¹Arthritis & Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, ²²Department of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK, ²³US Department of Veterans Affairs Medical Center, Oklahoma City, OK
Background/Purpose: The diagnosis of Sjögren′s Syndrome (SS) is often difficult and many patients are symptomatic for years with other diagnoses before confirmation of SS. Overlapping…
Abstract Number: 1462 • 2015 ACR/ARHP Annual Meeting
Farber Disease: Important Differential Diagnostic Information for JIA and Other Inflammatory Arthritis Phenotypes Is Revealed By Data from the Largest Clinical Cohort to Date
Alexander Solyom¹, Boris Huegle², Bo Magnusson³, Balahan Makay⁴, Nur Arslan⁵, John Mitchell⁶, Pranoot Tanpaiboon⁷, Norberto Guelbert⁸, Ratna Puri⁹, Lawrence Jung¹⁰, Giedre Grigelioniene¹¹, Karoline Ehlert¹², Michael Beck¹³, Calogera Simonaro¹⁴ and Edward Schuchman¹⁵, ¹Pediatrics, University of Pecs, Pecs, Hungary, ²Pediatric Rheumatology, German Center for Pediatric and Adolescent Rheumatology, Garmisch-Partenkirchen, Germany, ³Pediatric Rheumatology, Karolinska University Hospital, Stockholm, Sweden, ⁴Pediatric Rheumatology, Eylul University, Izmir, Turkey, ⁵Eylul University, Izmir, Turkey, ⁶Pediatric Endocrinology, Montreal Children's Hospital, Montreal, QC, Canada, ⁷Genetics and Metabolism, Children's National Medical Center, Washington, DC, ⁸Metabolic Diseases Section, Children’s Hospital of Cordoba, Cordoba, Argentina, ⁹Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India, ¹⁰Pediatric Rheumatology, Children's National Med Ctr, Washington, DC, ¹¹Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden, ¹²University Medical Center - Greifswald, Greifswald, Germany, ¹³Institute of Human Genetics, University Medical Center - Mainz, Mainz, Germany, ¹⁴Genetics and Genomic Sciences, Icahn School of Medicine at Mt. Sinai, New York, NY, ¹⁵Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY
Background/Purpose: Farber disease (Farber lipogranulomatosis; acid ceramidase deficiency) is a rare lysosomal storage disorder resulting from the inherited deficiency of the enzyme acid ceramidase due…

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