Abstracts tagged "Pediatric rheumatology"

Abstract Number: 0453 • ACR Convergence 2020
Monitoring of BK Reactivation and Long-term Safety on JAK1/2 Inhibition with Baricitinib
Kader Cetin Gedik¹, Gema Souto Adeva², Jenna Wade¹, Gina Montealegre Sanchez³, Adriana de Jesus⁴ and Raphaela Goldbach-Mansky⁵, ¹Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, MD, ²Translational Autoinflammatory Disease Section (TADS)/NIAID/ NIH, Bethesda, ³Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Rockville, MD, ⁴Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Silver Spring, MD, ⁵Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Potomac, MD
Background/Purpose: Baricitinib has been used to treat pediatric patients (pts) with Type 1 Interferonopathies1. Safety profile including BK viral reactivation in urothelium and pharmacokinetic model…
Abstract Number: 0726 • ACR Convergence 2020
Who Ordered the Stiff One? Characteristics of Polyarticular Juvenile Idiopathic Arthritis Patients Associated with the Presence and Increased Duration of Joint Stiffness
Nayimisha Balmuri¹, Victoria Cooley², Linda Gerber², Susan Goodman³, Bella Mehta³ and Karen Onel⁴, ¹Hospital for Special Surgery, new york, NY, ²Weill Cornell Medicine, NY, NY, ³Hospital for Special Surgery, Weill Cornell Medicine, New York, NY, ⁴Pediatric Rheumatology, Hospital for Special Surgery, New York, NY
Background/Purpose: Joint stiffness as a sign of intra-articular inflammation may be an early presenting symptom of JIA. Studies following pain in chronic disease have shown…
Abstract Number: 1159 • ACR Convergence 2020
Novel STING1 Mutations Including in the Transmembrane Linker Region Cause STING-associated Vasculopathy with Onset in Infancy (SAVI)
Bin Lin¹, Dana Kahle¹, Adriana Almeida de Jesus¹, Sofia Torreggiani², Jacob Mitchell², Alexander Aue¹, Zheng Ji³, Tengchuan Jin³ and Raphaela Goldbach-Mansky⁴, ¹Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, ²Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, MD, ³University of Science and Technology of China, Hefei, China (People's Republic), ⁴Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Potomac, MD
Background/Purpose: STING-associated vasculopathy with onset in infancy (SAVI) is an autoinflammatory disease caused by gain-of-function (GOF) mutations in STING1/TMEM173 that encodes stimulator of interferon genes,…
Abstract Number: 1247 • ACR Convergence 2020
Features of Childhood Sjogren’s Syndrome: A Literature Review Based Cohort
Achille Marino¹, Micol Romano², Teresa Giani³, Carla Gaggiano⁴, Stefania Costi⁵, Revika Singh⁶, Jay Mehta⁷, Scott Lieberman⁸ and Rolando Cimaz⁹, ¹Department of Pediatrics, Desio Hospital, Milan, ²ASST Gaetano Pini-CTO Institute, Milan, Italy, Milan, Italy, ³AOU Meyer, Florence, Italy, ⁴Department of Pediatrics, University of Siena, Siena, Italy, Siena, Italy, ⁵University of Milan, Milan, Italy, Milan, Italy, ⁶Northwestern University, Evanston, IL, ⁷Division of Rheumatology, Children's Hospital of Philadelphia, Philadelphia, USA, Philadelphia, PA, ⁸Department of Pediatrics, University of Iowa, Iowa City, US, Iowa City, IA, ⁹ASST Gaetano Pini-CTO Institute and Università degli Studi di Milano, Milan, Italy, Milan, Italy
Background/Purpose: Sjogren’s syndrome (SS) is an autoimmune chronic disease characterized by inflammation of exocrine glands, but it can affect other organs as well.This study aims…
Abstract Number: 1667 • ACR Convergence 2020
Development of Autoimmune Diseases and HLA Associations in Children with Neonatal Lupus and Their Unaffected Siblings
Amit Saxena¹, Aaron Garza Romero², Daniel Gratch³, Peter Izmirly⁴, Hannah Ainsworth⁵, Miranda Marion⁵, Carl Langefeld⁶, Robert Clancy⁷ and Jill Buyon⁸, ¹NYU School of Medicine, New York, ²Gonzaba Medical Group, San Antonio, ³NYU Langone Health, New York, ⁴Department of Medicine, New York University School of Medicine, New York, NY, ⁵Wake Forest School of Medicine, Winston-Salem, ⁶Wake Forest School of Medicine, Winston Salem, NC, ⁷New York University School of Medicine, New York, NY, ⁸Department of Medicine, NYU School of Medicine, New York, NY
Background/Purpose: Neonatal Lupus (NL) is a model of passively acquired autoimmunity conferred by exposure to maternal anti-Ro antibodies with major manifestations being congenital heart block…
Abstract Number: 1688 • ACR Convergence 2020
Long-term Hearing Loss, Anxiety and Neurodevelopmental Outcomes Following Kawasaki Disease: A Population-based Cohort Study
Cal Robinson¹, Francis Lao², Rahul Chanchlani¹, Anastasia Gayowsky³, Sandeep Brar⁴, Elizabeth Darling⁵, Catherine Demers⁵, Tapas Mondal¹, Rulan Parekh⁶, Hsien Seow⁵ and Michelle Batthish¹, ¹McMaster Children's Hospital, Hamilton, ON, Canada, ²Michael G. DeGroote School of Medicine, McMaster University, Hamilton, ON, Canada, ³ICES McMaster, Hamilton, ON, Canada, ⁴University of California, San Fransisco, ⁵McMaster University, Hamilton, ON, Canada, ⁶University of Toronto, Toronto, Canada
Background/Purpose: The incidence of Kawasaki disease (KD) is increasing in Ontario. Cardiovascular sequelae following KD are well-described. However, there are limited and conflicting non-cardiovascular outcome…
Abstract Number: 1990 • ACR Convergence 2020
Janus Kinase (JAK) Inhibition with Baricitinib in Refractory Juvenile Dermatomyositis
Hanna Kim¹, Lylan Bergeron², Samantha Dill², Michelle O'Brien², Laura Vian³, Minal Jain⁴, Manuk Manukyan², Xiaobai Li⁵, Shajia Lu³, Wanxia L. Tsai³, Kalyani Mishra Thakur⁶, Yinghui Shi⁶, Massimo Gadina⁷, April Brundidge², Michelle Millwood², Lisa G. Rider⁸ and Robert Colbert², ¹Juvenile Myositis Pathogenesis and Therapeutics Unit / NIAMS / National Institutes of Health, Bethesda, MD, ²Pediatric Clinical Trials Unit and Office of Clinical Director, NIAMS, NIH, Bethesda, MD, ³Translational Immunology Section, NIAMS, NIH, Bethesda, MD, ⁴Rehabilitation Medicine Department, Physical Therapy Section, Clinical Research Center, NIH, Bethesda, MD, ⁵Biostatistics and Clinical Epidemiology Service, Clinical Center, NIH, Bethesda, MD, ⁶Office of Clinical Director, NIAMS, NIH, Bethesda, MD, ⁷National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH, Bethesda, MD, ⁸Environmental Autoimmunity Group, Clinical Research Branch, NIEHS, NIH, Garrett Park, MD
Background/Purpose: Juvenile dermatomyositis (JDM) is a systemic autoimmune disease with a prominent interferon (IFN) signature. Treatment often requires prolonged high-dose steroids and other immunosuppressive medications.…
Abstract Number: 0457 • ACR Convergence 2020
Improving Pneumococcal Vaccination Rates in Immunosuppressed Rheumatology Patients
Julia Harris¹, Michael Holland², Emily Fox², Amy Ivy³, Maria Ibarra², Cara Hoffart², Jordan Jones², Leslie Favier⁴ and Ashley Cooper², ¹Children's Mercy Kansas City, Overland Park, KS, ²Children's Mercy Kansas City, Kansas City, MO, ³Children's Mercy Kansas City, Kansas City, ⁴Children's Mercy Kansas City, Leawood, KS
Background/Purpose: The Centers for Disease Control and Prevention recommends pneumococcal vaccination of high-risk patients, including patients on iatrogenic immunosuppression. Many patients seen in the rheumatology…
Abstract Number: 0727 • ACR Convergence 2020
Hip Involvement Leads to Poor Outcome in Adulthood in Children with Enthesitis Related Arthritis (ERA) Category of Juvenile Idiopathic Arthritis (JIA)
Naveen R¹, Namita Mohindra¹, Neeraj Jain¹ and Amita Aggarwal², ¹Sanjay Gandhi Post graduate institute of medical sciences, Lucknow, Uttar Pradesh, India, ²Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
Background/Purpose: Enthesitis related arthritis (ERA) is the commonest category of JIA seen in India and constitutes 30-40% of all JIA patients. There are many studies…
Abstract Number: 1160 • ACR Convergence 2020
Treatment Intensity and Impact on Bone Lesion Evolution and Distribution Patterns in Severe Chronic Recurrent Multifocal Osteomyelitis
Aleksander Lenert¹, T. Shawn Sato², Sedat G Kandemirli¹, Patrick Ten Eyck¹ and Polly Ferguson³, ¹University of Iowa, Iowa City, IA, ²University of Iowa, Iowa City, ³University of Iowa Carver College of Medicine, Iowa City, IA
Background/Purpose: To compare bone lesion evolution and bone lesion distribution patterns identified by whole body magnetic resonance imaging (WB-MRI) by treatment intensity in patients with…
Abstract Number: 1250 • ACR Convergence 2020
Early Sjögren Antibodies: Potential Biomarker for Abnormal Minor Labial Salivary Gland Biopsy in Juvenile Sjögren’s Syndrome
Akaluck Thatayatikom¹, Sthorn Thatayatikom¹, Indraneel Bhattacharyya², Melissa Elder¹, Renee Modica¹ and Seunghee Cha², ¹Department of Pediatrics, University of Florida, Gainesville, FL, ²College of Dentistry, University of Florida, Gainesville, FL
Background/Purpose: Juvenile Sjögren’s Syndrome (jSS) is a perplexing systemic autoimmune disease in children presenting with positive autoantibodies, glandular, and/ or extraglandular symptoms. In pediatric practice,…
Abstract Number: 1668 • ACR Convergence 2020
Long-Term Outcomes in Children Born to Anti-Ro and/or Anti-La Positive Mothers
Talia Diaz¹, Daniela Dominguez², Edgar Jaeggi³, Andrea Knight⁴, Carl A. Laskin⁵, Lawrence Ng⁶, Franklin Silverio¹, Earl D. Silverman⁷ and Linda Hiraki⁸, ¹Division of Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada, ²Division of Rheumatology, The Hospital for Sick Children, Toronto, Canada, ³Fetal Cardiac Program, The Hospital for Sick Children, Toronto, ON, Canada, ⁴Division of Rheumatology, The Hospital for Sick Children and Department of Paediatrics, University of Toronto, Toronto, ON, Canada, ⁵Mount Sinai Hospital and University of Toronto, Toronto, ON, Canada, ⁶Division of Rheumatology, Hospital for Sick Children, Toronto, Canada, ⁷Division of Rheumatology, The Hospital for Sick Children, Translational Medicine, Research Institute, The Hospital for Sick Children, and Department of Paediatrics, University of Toronto., Toronto, ON, Canada, ⁸Division of Rheumatology, The Hospital for Sick Children, Child Health Evaluative Sciences, Research Institute, The Hospital for Sick Children, and Department of Paediatrics, University of Toronto., Toronto, ON, Canada
Background/Purpose: Neonatal Lupus Erythematosus (NLE) is an acquired autoimmune disorder associated with the transplacental passage of maternal anti-Ro and/or anti-La antibodies. Previous studies have suggested…
Abstract Number: 1689 • ACR Convergence 2020
Unexpectedly High Incidence of Kawasaki Disease in a Well-Characterized Population in Atlantic Canada
Abdulrahman Alkanhal¹, Joseph Saunders², Fajer Altammar³, Adam Huber⁴, Andrew Lynk², Alison MacLeod⁵, Oliva Ortiz-Alvarez⁶, Meighan Adams², Suzanne Ramsey⁷, Elizabeth Stringer⁸, Andrew Warren² and Bianca Lang⁹, ¹University of Alberta, Edmonton, AB, Canada, ²Dalhousie University, Halifax, Canada, ³Mcmaster University, Hamilton, Canada, ⁴Dalhousie University, Halifax, NS, Canada, ⁵Annapolis Valley Health, Kentville, Canada, ⁶St Martha's Regional Hospital, Antigonish, Canada, ⁷IWK Health Centre, Dalhousie University, Halifax, NS, Canada, ⁸IWK Health Centre, Halifax, NS, Canada, ⁹Dalhousie University - Halifax, Halifax, NS, Canada
Background/Purpose: Kawasaki Disease (KD), a systemic vasculitis of unknown etiology, is now the leading cause of acquired heart disease in children in North America. Its…
Abstract Number: 1991 • ACR Convergence 2020
Abatacept Treatment Reduces Cutaneous and Joint Activity in Juvenile Localized Scleroderma
Suzanne Li¹, Sarah Ishaq², Mary Buckley³, Kathryn Torok⁴, Barbara Edelheit⁵, Kaleo Ede⁶, Christopher Liu⁷ and C. Egla Rabinovich⁸, ¹Hackensack University Medical Center, Hackensack, ²Montclair State University, Montclair, ³Duke University, Durham, NC, ⁴University of Pittsburgh, Pittsburgh, PA, ⁵Conneticut Children's Medical Center, Hartford, ⁶Phoenix Children's Hospital, Phoenix, AZ, ⁷U Pittsburgh, Pittsburgh, ⁸Duke University Hospital, Durham, NC
Background/Purpose: Juvenile localized scleroderma (jLS) is an autoimmune disease commonly associated with damage. Damage includes dyspigmentation, tissue atrophy, arthropathy, hemiatrophy, vision loss, and seizures. To…
Abstract Number: 0471 • ACR Convergence 2020
Splice Site Variants in IKBKG, Encoding NEMO, Detected by a Customized Analysis of Next-Generation Sequencing Data Cause an Early-onset Autoinflammatory Syndrome of Panniculitis and Cytopenias in Male and Female Patients
Adriana de Jesus¹, Sofia Torreggiani², Bin Lin², Jacob Mitchell², Eric Karlins³, Andrew Oler³, Sara Alehashemi⁴, Dana Kahle⁵, Katelin R. Honer², Gema Souto Adeva², Eric Hanson⁶, Gina Montealegre Sanchez⁷, Amer Khojah⁸, Timothy Moran⁹, Eveline Wu⁹, Chris Scott¹⁰, Timothy Ronan Leahy¹¹, Emma Jane MacDermott¹¹, Orla Killeen¹², Thaschawee Arkachaisri¹³, Zoran Gucev¹⁴, Kathryn Phillippi¹⁵, Vafa Mammadova¹⁶, Gulnara Nasrullayeva¹⁶ and Raphaela Goldbach-Mansky¹⁷, ¹Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Silver Spring, MD, ²Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, MD, ³Bioinformatics and Computational Biosciences Branch/NIAID/NIH, Bethesda, MD, ⁴Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Clarksville, MD, ⁵Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, ⁶Indiana University School of Medicine, Indianapolis, IN, ⁷NIAID/NIH, Rockville, MD, ⁸Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, ⁹UNC Chapel Hill, Chapel Hill, NC, ¹⁰University of Cape Town, Cape Town, South Africa, ¹¹Our Lady's Children's Hospital, Dublin, Ireland, ¹²National Centre for Paediatric Rheumatology, CHI at Crumlin, Dublin, Ireland, ¹³Duke-NUS Medical School, Singapore, Singapore, ¹⁴University Children's Hospital, Medical Faculty Skopje, Skopje, Macedonia, ¹⁵Akron Children’s Hospital, Akron, OH, ¹⁶Azerbaijan Medical University, Baku, Azerbaijan, ¹⁷Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Potomac, MD
Background/Purpose: The Inhibitor of Kappa-B Kinase Regulatory Subunit Gamma (IKBKG) is located on the X chromosome and encodes the NF-κB essential modulator (NEMO). Loss-of-function mutations…

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