Abstracts Archive - Page 975 of 2607 - ACR Meeting Abstracts

Abstract Number: 015 • 2020 Pediatric Rheumatology Symposium
Normal MRI Appearance of Marrow Adjacent to the Sacroiliac Joints in Healthy Children During Development
Roberto Borgia¹, Leandra Woolnough ¹ and Troy Storey ², ¹University of Florida, Gainesville, ²University of Florida, Gainesvillle
Background/Purpose: MRI examination is frequently used to determine the presence of sacroiliitis in patients suspected of having inflammatory arthritis. In children and adolescents, the vascular…
Abstract Number: 016 • 2020 Pediatric Rheumatology Symposium
Genetic Susceptibility Loci for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Cervical Adenitis (PFAPA) Syndrome
Kalpana Manthiram¹, Silvia Preite ², Fatma Dedeoglu ³, Selcan Demir ⁴, Seza Ozen ⁵, Kathryn Edwards ⁶, Sivia Lapidus ⁷, Alexander Katz ², Henry Feder ⁸, Maranda Lawton ³, Greg Licameli ³, Peter Wright ⁹, Karyl Barron ², Amanda Ombrello ², Beverly Barham ², Tina Romeo ¹⁰, Anne Jones ¹¹, Hemalatha Srinivasalu ¹², Pamela Mudd ¹², Roberta DeBiasi ¹², Ahmet Gul ¹³, Gary Marshall ¹⁴, Olcay Jones ¹⁵, Yuriy Stepanovskiy ¹⁶, Polly Ferguson ¹⁷, Pamela Schwartzberg ², Elaine Remmers ² and Daniel Kastner ¹⁸, ¹National Institutes of Health, Bethesda, Maryland, ²National Institutes of Health, Bethesda, ³Boston Children's Hospital, Boston, ⁴Hacettepe University, Division of Pediatric Rheumatology, Department of Pediatrics, Faculty of Medicine, Ankara, Turkey, ⁵Hacettepe University, Division of Pediatric Rheumatology, Department of Pediatrics, Faculty of Medicine, ⁶Vanderbilt University School of Medicine, Nashville, ⁷The Joseph M. Sanzari Children's Hospital, Hackensack Meridian Health, Maplewood, ⁸Connecticut Children's Medical Center, Hartford, ⁹Dartmouth-Hitchcock Medical Center, Lebanon, ¹⁰NIH, Bethesda, ¹¹Bethesda, ¹²Children's National Medical Center, Washington, ¹³Istanbul University, Istanbul, Turkey, ¹⁴University of Louisville School of Medicine, Louisville, ¹⁵Walter Reed National Military Medical Center, Bethesda, ¹⁶Shupyk National Medical Academy of Postgraduate Education, Kiev, ¹⁷University of Iowa Carver College of Medicine, Iowa City, ¹⁸National Human Genome Research Institute, Bethesda
Background/Purpose: Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) syndrome is the most common periodic fever syndrome of childhood. Although familial clustering of the disease…
Abstract Number: 017 • 2020 Pediatric Rheumatology Symposium
MyD88 S209R-Mediated Immune Dysregulation in Mouse Models of Arthritis
Sufia Bakshi¹, Malika Waschmann ², Anders Lindstedt ², Emily Rominger ², Robert Colbert ³ and Keith Sikora ⁴, ¹National Institutes of Health, Bethesda, Maryland, ²National Institutes of Health, Bethesda, ³NIH/NIAMS, Bethesda, Maryland, ⁴National Institutes of Health Clinical Center, Bethesda, Maryland
Background/Purpose: MYD88 is a critical adaptor protein that connects Toll-like and IL-1 receptor signaling to activation of NF-kB. We previously reported a heterozygous de novo mutation in MYD88 (S222R)…
Abstract Number: 018 • 2020 Pediatric Rheumatology Symposium
Functional Characterization of PLCG2 Mutations Found in Subjects with Autoinflammation and PLCG2-Associated Antibody Deficiency and Immune Dysregulation (APLAID) Reveals Both Hypermorphic and Hypomorphic Mutants
Kathleen Baysac¹, Charles Fisher ¹, Hiroto Nakano ¹, Guangping Sun ², Joshua Milner ³ and Michael Ombrello ¹, ¹NIAMS, NIH, Bethesda, ²NIAID, NIH, Bethesda, ³
Background/Purpose: PLCG2-associated antibody deficiency and immune dysregulation (PLAID) and autoinflammatory PLAID (APLAID) are autosomal dominant diseases caused by mutations of PLCG2. APLAID is clinically characterized…
Abstract Number: 019 • 2020 Pediatric Rheumatology Symposium
Characterization of DOCK8 as a Novel Gene Associated with Cytokine Storm Syndrome
Mingce Zhang ¹, Remy Cron ¹, Devin Absher ², Prescott Atkinson ¹, W. Winn Chatham ¹ and Randy Cron¹, ¹University of Alabama at Birmingham, Birmingham, ²HudsonAlpha Institute for Biotechnology, Huntsville
Background/Purpose: Cytokine storm syndromes (CSS), such as macrophage activation syndrome (MAS) and secondary hemophagocytic lymphohistiocytosis (HLH), are life threatening conditions that commonly present with unremitting…
Abstract Number: 020 • 2020 Pediatric Rheumatology Symposium
Murine Roseolovirus Induces Autoimmune Disease and Development of Autoantibodies
Tarin Bigley¹ and Wayne Yokoyama ², ¹Washington University in St. Louis, Saint Louis, Missouri, ²Washington University in St. Louis, St Louis, Missouri
Background/Purpose: Murine roseolovirus (MRV) is a recently sequenced beta-herpesvirus that is a natural murine pathogen and is genetically highly related to HHV6 and HHV7. The…
Abstract Number: 021 • 2020 Pediatric Rheumatology Symposium
Myositis Autoantibodies in a Racially Diverse Population of Children with Idiopathic Inflammatory Myopathies
Dawn Wahezi ¹, Natalia Vasquez Canizares ², Gabriel Tarshish ² and Megan Colwell², ¹Children's Hospital at Montefiore, Bronx, ²Children's Hospital at Montefiore, new york
Background/Purpose: The presence of myositis specific autoantibodies (MSA) and myositis associated antibodies (MAA) has been associated with specific clinical phenotypes, various organ involvement and disease…
Abstract Number: 022 • 2020 Pediatric Rheumatology Symposium
Association of Plasma Metabolomic Profiles with Methotrexate Response in Juvenile Idiopathic Arthritis
Ryan Funk¹ and Mara Becker ², ¹University of Kansas, Leawood, Kansas, ²Duke University Medical Center/Duke Clinical Research Institute, Chapel Hill
Background/Purpose: Despite efforts to identify biomarkers to guide therapy in the treatment of juvenile idiopathic arthritis (JIA), drug therapy remains a trial-and-error process. In the…
Abstract Number: 023 • 2020 Pediatric Rheumatology Symposium
Capturing the Range of Disease Involvement in Localized Scleroderma: The Total Morbidity Score
Suzanne Li¹, Aashka Patel ², Elena Pope ³, Thomas Mason ⁴, Vidya Sivaraman ⁵, Fatma Dedeoglu ⁶, Kathryn Torok ⁷, Katie Stewart ⁸, Gloria Higgins ⁹, C. Egla Rabinovich ¹⁰, Robert Fuhlbrigge ¹¹, Maria Ibarra ¹², Sandy Hong ¹³, Polly Ferguson ¹⁴, Mara Becker ¹⁵, Brian Feldman ¹⁶ and Ronald Laxer ¹⁷ for the CARRA investigators, ¹Joseph M. Sanzari Children's Hospital Hackensack Meridian Health, Hackensack, ²Hackensack University Medical Center, Hackensack, ³Hospital For Sick Kids, Toronto, Canada, ⁴Rochester, ⁵Division of Rheumatology, Nationwide Children's Hospital, Bexley, ⁶Boston Children's Hospital, Boston, ⁷Pediatric Rheumatology, Univ of Pittsburgh Med Ctr, Pittsburgh, ⁸UT Southwestern, Dallas, ⁹Nationwide Childrens Hospital/ The Ohio State University, Columbus, ¹⁰Duke University Hospital, Durham, ¹¹University of Colorado, Aurora, ¹²Children's Mercy Kansas City, Kansas City, ¹³University of Iowa Stead Family Children's Hospital, Iowa City, ¹⁴University of Iowa Carver College of Medicine, Iowa City, ¹⁵Duke University Medical Center/Duke Clinical Research Institute, Chapel Hill, ¹⁶The Hospital for Sick Children, Toronto, Canada, ¹⁷The Hospital for Sick Children and University of Toronto, Toronto, Canada
Background/Purpose: Localized scleroderma (LS) is a chronic inflammatory and fibrosing disease that causes both cutaneous and extracutaneous (EC) damage. EC involvement (ECI) is common in…
Abstract Number: 024 • 2020 Pediatric Rheumatology Symposium
Abatacept Treatment Reduces Cutaneous and Joint Activity in Juvenile Localized Scleroderma
Suzanne Li¹, Sarah Ishaq ², Mary Buckley ³, Kathryn Torok ⁴, Barbara Edelheit ⁵, Kaleo Ede ⁶ and C. Egla Rabinovich ⁷, ¹Joseph M. Sanzari Children's Hospital Hackensack Meridian Health, Hackensack, ²Montclair State University, montclair, ³Duke University, Durham, ⁴Pediatric Rheumatology, Univ of Pittsburgh Med Ctr, Pittsburgh, ⁵CT Children's Medical Center, Hartford, ⁶Phoenix Children's Hospital, Phoenix, ⁷Duke University Hospital, Durham
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: 025 • 2020 Pediatric Rheumatology Symposium
HLA Genetic Signatures Associated with Inflammatory Sub-type in Juvenile Localized Scleroderma
Christina Schutt¹, Emily Mirizio ², Kaila Schollaert-Fitch ² and Kathryn Torok ², ¹UPMC Children's Hospital of Pittsburgh, Pittsburgh, ²Pediatric Rheumatology, Univ of Pittsburgh Med Ctr, Pittsburgh
Background/Purpose: Juvenile localized scleroderma (jLS) is an autoimmune disease of the skin and underlying tissue that is characterized by an earlier inflammatory infiltrate, followed by…
Abstract Number: 026 • 2020 Pediatric Rheumatology Symposium
Allogeneic Hematopoietic Cell Transplantation (HCT) in the National Institutes of Health (NIH)’s Deficiency of Adenosine Deaminase 2 (DADA2) Patient Cohort
Michele Nehrebecky¹, Jennifer Kanakry ¹, Dimana Dimitrova ¹, Deborah Stone ¹, Patrycja Hoffmann ², Tina Romeo ¹, Anne Jones ³, Karyl Barron ⁴ and Amanda Ombrello ⁵, ¹NIH, Bethesda, ²NIH, Vienna, ³Bethesda, ⁴National Institutes of Health, Bethesda, ⁵National Human Genome Research Institute/National Institutes of Health, Bethesda
Background/Purpose: The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disease caused by biallelic mutations in ADA2. The diagnosis of DADA2 is…
Abstract Number: 027 • 2020 Pediatric Rheumatology Symposium
Clinical Features and Outcomes in Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature (CANDLE) Syndrome: Before and After JAK-inhibition
Sofia Torreggiani¹, Pascal Pillet ², Fabiano de Oliveira Poswar ³, Anna Kozlova ⁴, Anna Shcherbina ⁴, Marietta De Guzman ⁵, Jacob Mitchell ⁶, Gina A. Montealegre Sanchez ⁷, Katherine Townsend ⁸, Kim Johnson ⁹, Adriana Almeida de Jesus ¹⁰ and Raphaela Goldbach-Mansky ¹¹, ¹National Institutes of Health, Bethesda, ²Bordeaux Cedex, France, ³Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil, ⁴Center for Pediatric Hematology, Oncology, Immunology, Moscow, Russia, ⁵Section of Rheumatology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, ⁶NIAID, NIH, Bethesda, ⁷NIH/ NIAID, Rockville, ⁸NIH, ⁹NIH, NIAID, Bethesda, ¹⁰NIAID, NIH, Silver Spring, ¹¹NIH/NIAID, Potomac
Background/Purpose: Chronic Atypical Neutrophilic Dermatosis With Lipodystrophy And Elevated Temperature (CANDLE) Syndrome is an autoinflammatory interferonopathy caused by mutations in the genes encoding for components…
Abstract Number: 028 • 2020 Pediatric Rheumatology Symposium
A Randomized, Double-blind, Placebo-controlled Study of Anakinra in Pediatric and Adult Patients with Still’s Disease
Laura Schanberg¹, Peter Nigrovic ², Ashley Cooper ³, Winn Chatham ⁴, Shoghik Akoghlanian ⁵, Namrata Singh ⁶, C. Egla Rabinovich ⁷, Akaluck Thatayatikom ⁸, Alysha Taxter ⁹, Jonathan Hausmann ¹⁰, Milan Zdravkovic ¹¹, Sven Ohlman ¹¹, Henrik Andersson ¹¹, Susanna Cederholm ¹², Gunilla Huledal ¹¹, Rayfel Schneider ¹³ and Fabrizio De Benedetti ¹⁴, ¹Duke Children's Hospital & Health Center, Durham, North Carolina, ²Boston Children's Hospital, Boston, Massachusetts, ³Children's Mercy Kansas City, Kansas City, ⁴University of Alabama at Birmingham, Birmingham, ⁵Nationwide Children's Hospital, Columbus, ⁶University of Iowa Hospitals and Clinics, Iowa, Iowa, ⁷Duke University Hospital, Durham, ⁸University of Florida, Gainesville, ⁹Wake Forest Baptist Medical Center, Winston-Salem, ¹⁰Division of Immunology, Boston Children's Hospital; Rheumatology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, ¹¹Sobi, Stockholm, Sweden, ¹²Stockholm, Sweden, ¹³The Hospital for Sick Children, Toronto, Canada, ¹⁴Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesu', Rome, Italy
Background/Purpose: Adult-onset Still’s disease (AOSD) and systemic juvenile idiopathic arthritis (SJIA) are rare systemic disorders of auto-inflammatory nature. There is a growing understanding that SJIA…
Abstract Number: 029 • 2020 Pediatric Rheumatology Symposium
Comparison of Efficacy Between Triamcinolone Acetonide and Hexacetonide Intra-articular Treatment for Clinical Remission in Juvenile Idiopathic Arthritis
Angela Chun¹, Lutfiyya Muhammad ² and Deirdre De Ranieri ³, ¹Lurie Children's Hospital, Chicago, Iowa, ²Northwestern University Feinberg School of Medicine, Chicago, ³Lurie Children's Hospital, Chicago, Illinois
Background/Purpose: The use of intra-articular corticosteroid (IAC) injections for Juvenile Idiopathic Arthritis (JIA) was extrapolated from its use in adult inflammatory joint diseases to achieve…

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