Rheumatology Commons^™

Barriers To The Diagnosis, Care, And Management Of Pediatric Patients With Ehlers-Danlos Syndrome In The United States: A Qualitative Analysis., William R. Black, Lora L. Black, Jordan T. Jones

Manuscripts, Articles, Book Chapters and Other Papers

Objectives: Ehlers-Danlos Syndromes (EDS) are a family of heritable connective tissue diseases. Primary practitioners are capable of diagnosing and managing EDS; however, few are knowledgeable and comfortable enough to see patients with EDS, resulting in delays in diagnosis and care. This study explores the barriers physicians experience with diagnosing, managing, and caring for patients with EDS, and potential resolutions to those barriers. Methods: As part of a larger online study, providers (n = 107) in the United States were asked to specify "What information would improve (their) comfort" in diagnosing, caring for, and managing EDS via open-ended questions. Results …

Demographic, Clinical, And Treatment Characteristics Of The Juvenile Primary Fibromyalgia Syndrome Cohort Enrolled In The Childhood Arthritis And Rheumatology Research Alliance Legacy Registry., Jennifer E. Weiss, Kenneth N. Schikler, Alexis D. Boneparth, Mark Connelly, Carra Registry Investigators

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: To describe the demographic, clinical, and treatment characteristics of youth diagnosed with juvenile primary fibromyalgia syndrome (JPFS) who are seen in pediatric rheumatology clinics.

METHODS: Information on demographics, symptoms, functioning, and treatments recommended and tried were obtained on patients with JPFS as part of a multi-site patient registry (the Childhood Arthritis and Rheumatology Research Alliance Legacy Registry). Data were summarized using descriptive statistics. In a subset of patients completing registry follow-up visits, changes in symptoms, pain, and functioning were evaluated using growth modeling.

RESULTS: Of the 201 patients with JPFS enrolled in the registry, most were Caucasian/White (85%), non-Hispanic …

Developing Comparative Effectiveness Studies For A Rare, Understudied Pediatric Disease: Lessons Learned From The Carra Juvenile Localized Scleroderma Consensus Treatment Plan Pilot Study., Suzanne C. Li, Robert C. Fuhlbrigge, Ronald M. Laxer, Elena Pope, Maria Ibarra, Katie Stewart, Thomas Mason, Mara L. Becker, Sandy Hong, Fatma Dedeoglu, Kathryn S. Torok, C Egla Rabinovich, Polly J. Ferguson, Marilynn Punaro, Brian M. Feldman, Tracy Andrews, Gloria C. Higgins, Carra Registry Investigators

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: We designed and initiated a pilot comparative effectiveness study for juvenile localized scleroderma (jLS), for which there is limited evidence on best therapy. We evaluated the process we used, in relation to the specific protocol and to the general task of identifying strategies for implementing studies in rare pediatric diseases.

METHODS: This was a prospective, multi-center, observational cohort study of 50 jLS patients initiating treatment, designed and conducted by the jLS group of the Childhood Arthritis and Rheumatology Research Alliance (CARRA) from 2012 to 2015. A series of virtual and physical meetings were held to design the study, standardize …

Pilot Study Comparing The Childhood Arthritis & Rheumatology Research Alliance (Carra) Systemic Juvenile Idiopathic Arthritis Consensus Treatment Plans., Yukiko Kimura, Sriharsha Grevich, Timothy Beukelman, Esi Morgan, Peter A. Nigrovic, Kelly Mieszkalski, T Brent Graham, Maria Ibarra, Norman Ilowite, Marisa Klein-Gitelman, Karen Onel, Sampath Prahalad, Marilynn Punaro, Sarah Ringold, Dana Toib, Heather Van Mater, Jennifer E. Weiss, Pamela F. Weiss, Laura E. Schanberg, Carra Registry Investigators

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVES: To assess the feasibility of studying the comparative effectiveness of the Childhood Arthritis and Rheumatology Research Alliance (CARRA) consensus treatment plans (CTPs) for systemic Juvenile Idiopathic Arthritis (JIA) using an observational registry.

METHODS: Untreated systemic JIA patients enrolled in the CARRA Registry were begun on one of 4 CTPs chosen by the treating physician and patient/family (glucocorticoid [GC] alone; methotrexate [MTX] ± GC; IL1 inhibitor [IL1i] ± GC; IL6 inhibitor [IL6i] ± GC). The primary outcome of clinical inactive disease (CID) without current GC use was assessed at 9 months.

TRIAL REGISTRATION: clinicaltrials.gov NCT01697254; first registered 9/28/12 (retrospectively enrolled). …

Validation Of Patient-Reported Outcomes Measurement Information System Short Forms For Use In Childhood-Onset Systemic Lupus Erythematosus., Jordan T. Jones, Adam C. Carle, Janet Wootton, Brianna Liberio, Jiha Lee, Laura E. Schanberg, Jun Ying, Esi Morgan Dewitt, Hermine I. Brunner

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: To validate the pediatric Patient-Reported Outcomes Measurement Information System short forms (PROMIS-SFs) in childhood-onset systemic lupus erythematosus (SLE) in a clinical setting.

METHODS: At 3 study visits, childhood-onset SLE patients completed the PROMIS-SFs (anger, anxiety, depressive symptoms, fatigue, physical function-mobility, physical function-upper extremity, pain interference, and peer relationships) using the PROMIS assessment center, and health-related quality of life (HRQoL) legacy measures (Pediatric Quality of Life Inventory, Childhood Health Assessment Questionnaire, Simple Measure of Impact of Lupus Erythematosus in Youngsters [SMILEY], and visual analog scales [VAS] of pain and well-being). Physicians rated childhood-onset SLE activity on a VAS and completed …

Monitoring Change In Volume Of Calcifications In Juvenile Idiopathic Inflammatory Myopathy: A Pilot Study Using Low Dose Computed Tomography., Maria Ibarra, Cynthia Rigsby, Gabrielle A. Morgan, Christina L. Sammet, Chiang-Ching Huang, Dong Xu, Ira N. Targoff, Lauren M. Pachman

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Dystrophic calcifications may occur in patients with J uvenile Idiopathic Inflammatory Myopathy (JIIM) as well as other connective tissue and metabolic diseases, but a reliable method of measuring the volume of these calcifications has not been established. The purpose of this study is to determine the feasibility of low dose, limited slice, Computed Tomography (CT) to measure objectively in-situ calcification volumes in patients with JIIM over time.

METHODS: Ten JIIM patients (eight JDM, two Overlap) with calcifications were prospectively recruited over a 2-year period to undergo two limited, low dose, four-slice CT scans. Calculation of the volume of calcifications …

Variants In Cxcr4 Associate With Juvenile Idiopathic Arthritis Susceptibility., Terri H. Finkel, Jin Li, Zhi Wei, Wei Wang, Haitao Zhang, Edward M. Behrens, Emma L. Reuschel, Sophie Limou, Carol Wise, Marilynn Punaro, Mara L. Becker, Jane E. Munro, Berit Flatø, Øystein Førre, Susan D. Thompson, Carl D. Langefeld, David N. Glass, Joseph T. Glessner, Cecilia E. Kim, Edward Frackelton, Debra K. Shivers, Kelly A. Thomas, Rosetta M. Chiavacci, Cuiping Hou, Kexiang Xu, James Snyder, Haijun Qiu, Frank Mentch, Kai Wang, Cheryl A. Winkler, Benedicte A. Lie, Justine A. Ellis, Hakon Hakonarson

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic disease among children, the etiology of which involves a strong genetic component, but much of the underlying genetic determinants still remain unknown. Our aim was to identify novel genetic variants that predispose to JIA.

METHODS: We performed a genome-wide association study (GWAS) and replication in a total of 1166 JIA cases and 9500 unrelated controls of European ancestry. Correlation of SNP genotype and gene expression was investigated. Then we conducted targeted resequencing of a candidate locus, among a subset of 480 cases and 480 controls. SUM test was performed …

Initial Benchmarking Of The Quality Of Medical Care In Childhood-Onset Systemic Lupus Erythematosus., Rina Mina, Julia G. Harris, Marisa S. Klein-Gitelman, Simone Appenzeller, Maraisa Centeville, Diane Eskra, Jennifer L. Huggins, Anne L. Johnson, Raju Khubchandani, Prachi Khandekar, Jiha Lee, Hai Mei Liu, Joshua D. Pendl, Clovis A. Silva, Marco F. Silva, Ahmad I. Zaal, Esi Morgan Dewitt, Stacy P. Ardoin, Hermine I. Brunner

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: To assess the quality of medical care in childhood-onset systemic lupus erythematosus (SLE) at tertiary pediatric rheumatology centers as measured by observance of SLE quality indicators (SLE-QIs).

METHODS: International consensus has been achieved for childhood-onset SLE-QIs capturing medical care provision in 9 domains: diagnostic testing, education of cardiovascular (CV) risk and lifestyles, lupus nephritis (LN), medication management, bone health, ophthalmologic surveillance, transition, pregnancy, and vaccination. Using medical record information, the level of performance of these childhood-onset SLE-QIs was assessed in childhood-onset SLE populations treated at 4 tertiary pediatric rheumatology centers in the US, 2 in Brazil, and 1 center …