Scholars@Duke
Mara Becker

Mara Becker

Professor of Pediatrics
Pediatrics, Rheumatology
mara.becker@duke.edu
DUMC 3611, Durham, NC 27710
117B Davison Building, Dean's Suite, Durham, NC 27710

Selected Publications

Racial Disparities and Achievement of the Low Lupus Disease Activity State: A CARRA Registry Study.

Journal Article Arthritis Care Res (Hoboken) · September 29, 2024 OBJECTIVE: Differential disease control may contribute to racial disparities in outcomes of childhood-onset systemic lupus erythematosus (cSLE). We evaluated associations of race and individual- or neighborhood-level social determinants of health (SDoH) wi ... Full text Link to item Cite

Identification of Plasma Metabolomic Biomarkers of Juvenile Idiopathic Arthritis

Conference Metabolites · September 1, 2024 Identification of disease and therapeutic biomarkers remains a significant challenge in the early diagnosis and effective treatment of juvenile idiopathic arthritis (JIA). In this study, plasma metabolomic profiling was conducted to identify disease-relate ... Full text Cite

Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.

Journal Article J Exp Med · August 5, 2024 Nucleic acid-sensing Toll-like receptors (TLR) 3, 7/8, and 9 are key innate immune sensors whose activities must be tightly regulated to prevent systemic autoimmune or autoinflammatory disease or virus-associated immunopathology. Here, we report a systemat ... Full text Link to item Cite

Comparative Effectiveness of a Second Tumor Necrosis Factor Inhibitor Versus a Non-Tumor Necrosis Factor Biologic in the Treatment of Patients With Polyarticular-Course Juvenile Idiopathic Arthritis.

Journal Article Arthritis Care Res (Hoboken) · August 2024 OBJECTIVE: The objective of this study was to compare the effectiveness of a second tumor necrosis factor inhibitor (TNFi) versus a non-TNFi biologic following discontinuation of a TNFi for patients with polyarticular-course juvenile idiopathic arthritis ( ... Full text Link to item Cite

Capturing the Range of Disease Involvement in Localized Scleroderma: The Localized Scleroderma Total Severity Scale.

Journal Article Arthritis Care Res (Hoboken) · May 2024 OBJECTIVE: Juvenile localized scleroderma (jLS) is a chronic autoimmune disease commonly associated with poor outcomes, including contractures, hemiatrophy, uveitis, and seizures. Despite improvements in treatment, >25% of patients with jLS have functional ... Full text Link to item Cite

Health Equity Implications of Missing Data Among Youths With Childhood-Onset Systemic Lupus Erythematosus: A Proof-of-Concept Study in the Childhood Arthritis and Rheumatology Research Alliance Registry.

Journal Article Arthritis Care Res (Hoboken) · November 2023 OBJECTIVE: Health disparities in childhood-onset systemic lupus erythematosus (SLE) disproportionately impact marginalized populations. Socioeconomically patterned missing data can magnify existing health inequities by supporting inferences that may misrep ... Full text Link to item Cite

Patient-Reported Outcomes Among Patients Ages Two to Seventeen Years With Polyarticular-Course Juvenile Idiopathic Arthritis Treated With Subcutaneous Abatacept: Two-Year Results From an International Phase III Study.

Journal Article Arthritis Care Res (Hoboken) · August 2023 OBJECTIVE: To describe longitudinal changes in patient-reported outcomes (PROs) in children with polyarticular-course juvenile idiopathic arthritis (pJIA) treated with subcutaneous abatacept. METHODS: Secondary analysis of a single-arm, open-label 24-month ... Full text Link to item Cite

Insurance Status and Tumor Necrosis Factor Inhibitor Initiation Among Children With Juvenile Idiopathic Arthritis in the CARRA Registry.

Journal Article J Rheumatol · August 2023 OBJECTIVE: Prompt escalation to tumor necrosis factor inhibitors (TNFis) is recommended for children with juvenile idiopathic arthritis (JIA) and ongoing disease activity despite treatment with conventional disease-modifying antirheumatic drugs (cDMARDs). ... Full text Link to item Cite

Childhood-Onset Lupus Nephritis in the Childhood Arthritis and Rheumatology Research Alliance Registry: Short-Term Kidney Status and Variation in Care.

Journal Article Arthritis Care Res (Hoboken) · July 2023 OBJECTIVE: The goal was to characterize short-term kidney status and describe variation in early care utilization in a multicenter cohort of patients with childhood-onset systemic lupus erythematosus (cSLE) and nephritis. METHODS: We analyzed previously co ... Full text Link to item Cite

Disease Recapture Rates After Medication Discontinuation and Flare in Juvenile Idiopathic Arthritis: An Observational Study Within the Childhood Arthritis and Rheumatology Research Alliance Registry.

Journal Article Arthritis Care Res (Hoboken) · April 2023 OBJECTIVE: Children with well-controlled juvenile idiopathic arthritis (JIA) frequently experience flares after medication discontinuation, but the outcomes of these flares have not been well described. The objective of this study was to characterize the r ... Full text Link to item Cite

Anti-FHL1 autoantibodies in juvenile myositis are associated with anti-Ro52 autoantibodies but not with severe disease features.

Journal Article Rheumatology (Oxford) · February 23, 2023 OBJECTIVES: Four-and-a-half LIM domains 1 (FHL1) is a muscle-specific protein. Autoantibodies against FHL1 were recently discovered in adults with idiopathic inflammatory myopathies (IIMs) and were found to be associated with clinical features and outcomes ... Full text Link to item Cite

Mechanisms to expedite pediatric clinical trial site activation: The DOSE trial experience.

Journal Article Contemp Clin Trials · February 2023 BACKGROUND: Timely trial start-up is a key determinant of trial success; however, delays during start-up are common and costly. Moreover, data on start-up metrics in pediatric clinical trials are sparse. To expedite trial start-up, the Trial Innovation Net ... Full text Link to item Cite

Trajectories of disease activity in patients with JIA in the Childhood Arthritis and Rheumatology Research Alliance Registry.

Journal Article Rheumatology (Oxford) · February 1, 2023 OBJECTIVE: To describe 2-year trajectories of the clinical Juvenile Arthritis Disease Activity Score, 10 joints (cJADAS10) and associated baseline characteristics in patients with JIA. METHODS: JIA patients in the Childhood Arthritis and Rheumatology Resea ... Full text Link to item Cite

Patient-Reported Outcomes Among Transition-Age Young Adults With Juvenile Idiopathic Arthritis in the Childhood Arthritis and Rheumatology Research Alliance Registry.

Journal Article J Rheumatol · January 2023 OBJECTIVE: To evaluate patient-reported care utilization and outcomes among young adults with juvenile idiopathic arthritis (JIA), including factors associated with complete transfer to adult rheumatology. METHODS: We included young adults with JIA enrolle ... Full text Link to item Cite

Race, ethnicity and patient-reported outcomes in childhood-onset systemic lupus erythematosus.

Journal Article Clin Exp Rheumatol · January 2023 OBJECTIVES: This study assesses the association of race/ethnicity with the Patient-Reported Outcomes Measurement Information System (PROMIS®) in childhood-onset systemic lupus erythematosus (cSLE) patients from the Childhood Arthritis and Rheumatology Rese ... Full text Link to item Cite

Intraarticular steroids as DMARD-sparing agents for juvenile idiopathic arthritis flares: Analysis of the Childhood Arthritis and Rheumatology Research Alliance Registry.

Journal Article Pediatr Rheumatol Online J · November 25, 2022 BACKGROUND: Children with juvenile idiopathic arthritis (JIA) who achieve a drug free remission often experience a flare of their disease requiring either intraarticular steroids (IAS) or systemic treatment with disease modifying anti-rheumatic drugs (DMAR ... Full text Link to item Cite

Baseline characteristics of children with juvenile dermatomyositis enrolled in the first year of the new Childhood Arthritis and Rheumatology Research Alliance registry.

Journal Article Pediatr Rheumatol Online J · July 19, 2022 BACKGROUND: To report baseline characteristics, patient reported outcomes and treatment of children with Juvenile Dermatomyositis (JDM) in the Childhood Arthritis and Rheumatology Research Alliance (CARRA) Registry. METHODS: Children newly diagnosed with J ... Full text Link to item Cite

Developing lay summaries and thank you notes in paediatric pragmatic clinical trials.

Journal Article Health Expect · June 2022 INTRODUCTION: Better transparency of research results and participant engagement may help address poor participant accrual in paediatric clinical research. We conducted formative research to assess the acceptability of lay summaries and thank you notes, as ... Full text Link to item Cite

2021 American College of Rheumatology Guideline for the Treatment of Juvenile Idiopathic Arthritis: Recommendations for Nonpharmacologic Therapies, Medication Monitoring, Immunizations, and Imaging.

Journal Article Arthritis Care Res (Hoboken) · April 2022 OBJECTIVE: To provide recommendations for the management of juvenile idiopathic arthritis (JIA) with a focus on nonpharmacologic therapies, medication monitoring, immunizations, and imaging, irrespective of JIA phenotype. METHODS: We developed clinically r ... Full text Link to item Cite

2021 American College of Rheumatology Guideline for the Treatment of Juvenile Idiopathic Arthritis: Therapeutic Approaches for Oligoarthritis, Temporomandibular Joint Arthritis, and Systemic Juvenile Idiopathic Arthritis.

Journal Article Arthritis Rheumatol · April 2022 OBJECTIVE: To provide updated guidelines for pharmacologic management of juvenile idiopathic arthritis (JIA), focusing on treatment of oligoarthritis, temporomandibular joint (TMJ) arthritis, and systemic JIA with and without macrophage activation syndrome ... Full text Link to item Cite

2021 American College of Rheumatology Guideline for the Treatment of Juvenile Idiopathic Arthritis: Therapeutic Approaches for Oligoarthritis, Temporomandibular Joint Arthritis, and Systemic Juvenile Idiopathic Arthritis.

Journal Article Arthritis Care Res (Hoboken) · April 2022 OBJECTIVE: To provide updated guidelines for pharmacologic management of juvenile idiopathic arthritis (JIA), focusing on treatment of oligoarthritis, temporomandibular joint (TMJ) arthritis, and systemic JIA with and without macrophage activation syndrome ... Full text Link to item Cite

2021 American College of Rheumatology Guideline for the Treatment of Juvenile Idiopathic Arthritis: Recommendations for Nonpharmacologic Therapies, Medication Monitoring, Immunizations, and Imaging.

Journal Article Arthritis Rheumatol · April 2022 OBJECTIVE: To provide recommendations for the management of juvenile idiopathic arthritis (JIA) with a focus on nonpharmacologic therapies, medication monitoring, immunizations, and imaging, irrespective of JIA phenotype. METHODS: We developed clinically r ... Full text Link to item Cite

Conducting clinical trials in persons with Down syndrome: summary from the NIH INCLUDE Down syndrome clinical trials readiness working group.

Journal Article J Neurodev Disord · March 23, 2022 The recent National Institute of Health (NIH) INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) initiative has bolstered capacity for the current increase in clinical trials involving individuals with Down s ... Full text Link to item Cite

Social determinants of health influence disease activity and functional disability in Polyarticular Juvenile Idiopathic Arthritis.

Journal Article Pediatr Rheumatol Online J · March 7, 2022 BACKGROUND: Social determinants of health (SDH) greatly influence outcomes during the first year of treatment in rheumatoid arthritis, a disease similar to polyarticular juvenile idiopathic arthritis (pJIA). We investigated the correlation of community pov ... Full text Link to item Cite

Anti-Cortactin Autoantibodies Are Associated With Key Clinical Features in Adult Myositis But Are Rarely Present in Juvenile Myositis.

Journal Article Arthritis Rheumatol · February 2022 OBJECTIVE: To define the prevalence and clinical phenotype of anti-cortactin autoantibodies in adult and juvenile myositis. METHODS: In this longitudinal cohort study, anti-cortactin autoantibody titers were assessed by enzyme-linked immunosorbent assay in ... Full text Link to item Cite

A population physiologically-based pharmacokinetic model to characterize antibody disposition in pediatrics and evaluation of the model using infliximab.

Journal Article Br J Clin Pharmacol · January 2022 AIMS: In order to better predict the pharmacokinetics (PK) of antibodies in children, and to facilitate dose optimization of antibodies in paediatric patients, there is a need to develop systems PK models that integrate ontogeny-related changes in human ph ... Full text Link to item Cite

Down Syndrome-Associated Arthritis Cohort in the New Childhood Arthritis and Rheumatology Research Alliance Registry: Clinical Characteristics, Treatment, and Outcomes.

Conference Arthritis Care Res (Hoboken) · December 2021 OBJECTIVE: Down syndrome-associated arthritis (DA) is underrecognized, and current therapies used for juvenile idiopathic arthritis (JIA) appear to be poorly tolerated and less effective in patients with DA. The objective of this study was to characterize ... Full text Link to item Cite

Impact of the Season of Birth on the Development of Juvenile Idiopathic Arthritis in the United States: A Nationwide Registry-based Study.

Journal Article J Rheumatol · December 2021 OBJECTIVE: Autoimmune disorders result from the interplay of genetic and environmental factors. Many autoimmune disorders are associated with specific seasons of birth, implicating a role for environmental determinants in their etiopathology. We investigat ... Full text Link to item Cite

Improved Disease Course Associated With Early Initiation of Biologics in Polyarticular Juvenile Idiopathic Arthritis: Trajectory Analysis of a Childhood Arthritis and Rheumatology Research Alliance Consensus Treatment Plans Study.

Journal Article Arthritis Rheumatol · October 2021 OBJECTIVE: To investigate the effects of early introduction of biologic disease-modifying antirheumatic drugs (bDMARDs) on the disease course in untreated polyarticular juvenile idiopathic arthritis (JIA). METHODS: We analyzed data on patients with polyart ... Full text Link to item Cite

Optimizing the Start Time of Biologics in Polyarticular Juvenile Idiopathic Arthritis: A Comparative Effectiveness Study of Childhood Arthritis and Rheumatology Research Alliance Consensus Treatment Plans.

Journal Article Arthritis Rheumatol · October 2021 OBJECTIVE: The optimal time to start biologics in polyarticular juvenile idiopathic arthritis (JIA) remains uncertain. The Childhood Arthritis and Rheumatology Research Alliance (CARRA) developed 3 consensus treatment plans (CTPs) for untreated polyarticul ... Full text Link to item Cite

Safety updates in novel therapeutics for pediatric rheumatic disease.

Journal Article Curr Opin Rheumatol · September 1, 2021 PURPOSE OF REVIEW: Biologics and novel targeted therapeutics have transformed the management of pediatric rheumatic diseases over the past two decades; however, questions about short-term and long-term safety remain. Safety data gathered from recent clinic ... Full text Link to item Cite

Patterns of etanercept use in juvenile idiopathic arthritis in the Childhood Arthritis and Rheumatology Research Alliance Registry.

Journal Article Pediatr Rheumatol Online J · August 21, 2021 BACKGROUND: We aimed to characterize etanercept (ETN) use in juvenile idiopathic arthritis (JIA) patients enrolled in the Childhood Arthritis and Rheumatology Research Alliance (CARRA) Registry. METHODS: The CARRA Registry is a convenience cohort of patien ... Full text Link to item Cite

Community poverty level influences time to first pediatric rheumatology appointment in Polyarticular Juvenile Idiopathic Arthritis.

Journal Article Pediatr Rheumatol Online J · August 14, 2021 BACKGROUND: The impact of social determinants of health on children with polyarticular juvenile idiopathic arthritis (pJIA) is poorly understood. Prompt initiation of treatment for pJIA is important to prevent disease morbidity; however, a potential barrie ... Full text Link to item Cite

Biologic Switching Among Nonsystemic Juvenile Idiopathic Arthritis Patients: A Cohort Study in the Childhood Arthritis and Rheumatology Research Alliance Registry.

Journal Article J Rheumatol · August 2021 OBJECTIVE: Biologic medications have significantly improved disease control and outcomes of patients with juvenile idiopathic arthritis (JIA). Current treatment recommendations suggest escalating therapy, including changing biologics if needed, when inacti ... Full text Link to item Cite

Juvenile Spondyloarthritis in the Childhood Arthritis and Rheumatology Research Alliance Registry: High Biologic Use, Low Prevalence of HLA-B27, and Equal Sex Representation in Sacroiliitis.

Journal Article Arthritis Care Res (Hoboken) · July 2021 OBJECTIVE: To describe characteristics of children with enthesitis-related arthritis (ERA) and juvenile psoriatic arthritis (PsA) who were enrolled in the Childhood Arthritis and Rheumatology Research Alliance (CARRA) registry. METHODS: All children with E ... Full text Link to item Cite

Potential Role of Methotrexate Polyglutamates in Therapeutic Drug Monitoring for Pediatric Inflammatory Bowel Disease.

Journal Article Pharmaceuticals (Basel) · May 14, 2021 Inside cells, the immunomodulator methotrexate (MTX) undergoes the addition of glutamates to form methotrexate polyglutamates (MTX-Glu)-promising biomarkers of systemic exposure and treatment response to MTX in rheumatology. MTX-Glu are underexplored in In ... Full text Link to item Cite

Factors associated with reduced infliximab exposure in the treatment of pediatric autoimmune disorders: a cross-sectional prospective convenience sampling study.

Journal Article Pediatr Rheumatol Online J · May 1, 2021 BACKGROUND: Inadequate systemic exposure to infliximab (IFX) is associated with treatment failure. This work evaluated factors associated with reduced IFX exposure in children with autoimmune disorders requiring IFX therapy. METHODS: In this single-center ... Full text Link to item Cite

Inflammatory Bowel Disease in Children With Systemic Juvenile Idiopathic Arthritis.

Journal Article J Rheumatol · April 2021 OBJECTIVE: The incidence of inflammatory bowel disease (IBD) in juvenile idiopathic arthritis (JIA) is higher than in the general pediatric population. However, reports of IBD in the systemic JIA (sJIA) subtype are limited. We sought to characterize sJIA p ... Full text Link to item Cite

Distinguishing Blau Syndrome from Systemic Sarcoidosis.

Journal Article Curr Allergy Asthma Rep · February 9, 2021 PURPOSE OF REVIEW: The purpose of this review is to provide a framework to distinguish Blau syndrome/Early Onset Sarcoidosis and Sarcoidosis clinically. We also discuss relevant differences in genetics, pathogenesis, and management of these diseases. RECEN ... Full text Link to item Cite

Low etanercept concentrations in children with obesity and juvenile idiopathic arthritis

Journal Article Journal of Pediatric Pharmacology and Therapeutics · January 1, 2021 OBJECTIVE To evaluate the impact of obesity on etanercept (ETN) drug exposure in children with juvenile idiopathic arthritis (JIA). METHODS We conducted a pilot, cross-sectional, observational study in a real-world cohort of children with JIA receiving ETN ... Full text Cite

Metabolomic Profiling Identifies Exogenous and Microbiota-Derived Metabolites as Markers of Methotrexate Efficacy in Juvenile Idiopathic Arthritis.

Journal Article Front Pharmacol · 2021 Variability in methotrexate (MTX) efficacy represents a barrier to early and effective disease control in the treatment of juvenile idiopathic arthritis (JIA). This work seeks to understand the impact of MTX on the plasma metabolome and to identify metabol ... Full text Link to item Cite

Diagnosis of Kikuchi-Fujimoto disease in an 11-year-old girl with fever and sickle cell disease.

Journal Article BMJ Case Rep · August 24, 2020 Kikuchi-Fujimoto disease (KFD) is a rare lymphohistiocytic disorder which can cause prolonged fever and other systemic B symptoms including diffuse lymphadenopathy. Given its clinical presentation, there is often initial concern for lymphoma and diagnosis ... Full text Link to item Cite

Initial Results from a Pilot Comparative Effectiveness Study of 3 Methotrexate-based Consensus Treatment Plans for Juvenile Localized Scleroderma.

Journal Article J Rheumatol · August 1, 2020 OBJECTIVE: To perform a comparative effectiveness feasibility study in juvenile localized scleroderma (LS), using standardized treatment regimens (consensus treatment plans; CTP). METHODS: A prospective, multicenter 1-year pilot observational cohort study ... Full text Link to item Cite

Assessment and treatment of Down syndrome-associated arthritis: a survey of pediatric rheumatologists.

Journal Article Pediatr Rheumatol Online J · July 13, 2020 BACKGROUND: Inflammatory arthritis in children with Down syndrome (DS) was first described in 1984 and is now termed Down syndrome-associated arthritis (DA). Studies have shown that DA is under-recognized with a 19-month average delay in diagnosis. Additio ... Full text Link to item Cite

Altered Folate Homeostasis in Children with Down Syndrome: A Potential Basis for Enhanced Methotrexate Toxicity.

Journal Article J Pediatr · June 2020 Methotrexate is used to treat autoimmune and oncologic diseases in children with Down syndrome. However, increased methotrexate-related toxicity is reported in this population. We evaluated differences in the concentrations and distribution of erythrocyte ... Full text Link to item Cite

Patient and physician discordance of global disease assessment in juvenile dermatomyositis: findings from the Childhood Arthritis & Rheumatology Research Alliance Legacy Registry.

Journal Article Pediatr Rheumatol Online J · January 15, 2020 BACKGROUND: Global disease activity scores (gVAS) capture patient or family (PF) and physician (MD) assessments of disease. This study sought to measure discordance between PF and MD global activity scores in juvenile dermatomyositis (JDM), and determine f ... Full text Link to item Cite

Metabolomic Profiling to Identify Molecular Biomarkers of Cellular Response to Methotrexate In Vitro.

Journal Article Clin Transl Sci · January 2020 Variation in methotrexate (MTX) efficacy represents a significant barrier to early and effective disease control in the treatment of autoimmune arthritis. We hypothesize that the utilization of metabolomic techniques will allow for an improved understandin ... Full text Link to item Cite

Methotrexate Polyglutamation in a Myasthenia Gravis Clinical Trial.

Journal Article Kans J Med · 2020 INTRODUCTION: Methotrexate (MTX) is an immunosuppressive and anti-inflammatory drug used to treat rheumatoid arthritis (RA) and other autoimmune conditions. MTX is transported into cells, where glutamate moieties are added and is retained as methotrexate p ... Open Access Link to item Cite

Association of Short-Term Ultraviolet Radiation Exposure and Disease Severity in Juvenile Dermatomyositis: Results From the Childhood Arthritis and Rheumatology Research Alliance Legacy Registry.

Journal Article Arthritis Care Res (Hoboken) · December 2019 OBJECTIVE: Ultraviolet (UV) radiation is considered to be an important environmental factor in the clinical course of children with juvenile dermatomyositis (DM). We aimed to evaluate the association between UV radiation and severe disease outcomes in juve ... Full text Link to item Cite

Pain, functional disability, and their Association in Juvenile Fibromyalgia Compared to other pediatric rheumatic diseases.

Journal Article Pediatr Rheumatol Online J · November 6, 2019 BACKGROUND: Severe pain and impairments in functioning are commonly reported for youth with juvenile fibromyalgia. The prevalence and impact of pain in other diseases commonly managed in pediatric rheumatology comparatively have been rarely systematically ... Full text Link to item Cite

Developing comparative effectiveness studies for a rare, understudied pediatric disease: lessons learned from the CARRA juvenile localized scleroderma consensus treatment plan pilot study.

Journal Article Pediatr Rheumatol Online J · July 15, 2019 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 g ... Full text Link to item Cite

Scurvy presenting with limp and weakness: a case report.

Journal Article BMC Pediatr · July 6, 2019 BACKGROUND: Scurvy is one of the oldest diseases known to mankind. Although presently rare in the developed world, scurvy was a common potentially fatal disease. In recent times, the most common risk factors for scurvy include alcoholism, low socioeconomic ... Full text Link to item Cite

Neonatal Therapeutics: Considerations for Dosing.

Journal Article Am J Perinatol · July 2019 Neonates are a uniquely vulnerable population, compromised by immature physiology and critical illness if born premature. Furthermore, neonates have frequent exposures to drugs that lack adequate data on safety, efficacy, and appropriate dosing in this pop ... Full text Link to item Cite

Methotrexate disposition, anti-folate activity and efficacy in the collagen-induced arthritis mouse model.

Journal Article Eur J Pharmacol · June 15, 2019 Methotrexate (MTX) efficacy in autoimmune arthritis is variable and unpredictable resulting in the need for the identification of biomarkers to guide drug therapy. This study utilizes the collagen-induced arthritis mouse model to investigate erythrocyte MT ... Full text Link to item Cite

2019 American College of Rheumatology/Arthritis Foundation Guideline for the Screening, Monitoring, and Treatment of Juvenile Idiopathic Arthritis-Associated Uveitis.

Journal Article Arthritis Rheumatol · June 2019 OBJECTIVE: To develop recommendations for the screening, monitoring, and treatment of uveitis in children with juvenile idiopathic arthritis (JIA). METHODS: Pediatric rheumatologists, ophthalmologists with expertise in uveitis, patient representatives, and ... Full text Link to item Cite

2019 American College of Rheumatology/Arthritis Foundation Guideline for the Screening, Monitoring, and Treatment of Juvenile Idiopathic Arthritis-Associated Uveitis.

Journal Article Arthritis Care Res (Hoboken) · June 2019 OBJECTIVE: To develop recommendations for the screening, monitoring, and treatment of uveitis in children with juvenile idiopathic arthritis (JIA). METHODS: Pediatric rheumatologists, ophthalmologists with expertise in uveitis, patient representatives, and ... Full text Link to item Cite

2019 American College of Rheumatology/Arthritis Foundation Guideline for the Treatment of Juvenile Idiopathic Arthritis: Therapeutic Approaches for Non-Systemic Polyarthritis, Sacroiliitis, and Enthesitis.

Journal Article Arthritis Rheumatol · June 2019 OBJECTIVE: To develop treatment recommendations for children with juvenile idiopathic arthritis manifesting as non-systemic polyarthritis, sacroiliitis, or enthesitis. METHODS: The Patient/Population, Intervention, Comparison, and Outcomes (PICO) questions ... Full text Link to item Cite

2019 American College of Rheumatology/Arthritis Foundation Guideline for the Treatment of Juvenile Idiopathic Arthritis: Therapeutic Approaches for Non-Systemic Polyarthritis, Sacroiliitis, and Enthesitis.

Journal Article Arthritis Care Res (Hoboken) · June 2019 OBJECTIVE: To develop treatment recommendations for children with juvenile idiopathic arthritis manifesting as non-systemic polyarthritis, sacroiliitis, or enthesitis. METHODS: The Patient/Population, Intervention, Comparison, and Outcomes (PICO) questions ... Full text Link to item Cite

Improving the Safety of Teratogen Prescribing Practices in a Pediatric Rheumatology Clinic.

Journal Article Pediatrics · April 2019 OBJECTIVES: Although teratogenic medications are commonly used to treat rheumatic disease, no standard model currently exists for educating adolescent patients about teratogenic risk or performing routine pregnancy screening. We performed a quality improve ... Full text Link to item Cite

Baseline Description of the Juvenile Localized Scleroderma Subgroup From the Childhood Arthritis and Rheumatology Research Alliance Legacy Registry.

Journal Article ACR Open Rheumatol · April 2019 OBJECTIVE: Localized scleroderma (LS) is a chronic inflammatory and fibrosing skin disorder. We present baseline data on the juvenile LS (jLS) cohort from the Childhood Arthritis and Rheumatology Research Alliance (CARRA) Legacy Registry, a multicenter obs ... Full text Link to item Cite

Association of SLCO1B1 *14 Allele with Poor Response to Methotrexate in Juvenile Idiopathic Arthritis Patients

Journal Article ACR Open Rheumatology · March 1, 2019 Objective: Variants in the SLCO1B1 gene, encoding a hepatic methotrexate (MTX) transporter, affect clearance of high-dose MTX. We tested whether in the *14 and *15 alleles of SLCO1B1 influenced the response to low-dose MTX in juvenile idiopathic arthritis ... Full text Cite

Clinical Features and Treatment of Down Syndrome Arthropathy: Experience from Two US Tertiary Hospitals.

Journal Article Paediatr Drugs · February 2019 BACKGROUND: Arthropathy of Down syndrome (DA) is largely under-recognized, with an average 2-year delay in diagnosis. Most patients present with polyarthritis, and treatment has historically been challenging. OBJECTIVES: Our objective was to investigate th ... Full text Link to item Cite

Subcutaneous Abatacept in Patients With Polyarticular-Course Juvenile Idiopathic Arthritis: Results From a Phase III Open-Label Study.

Journal Article Arthritis Rheumatol · July 2018 OBJECTIVE: To investigate the pharmacokinetics, effectiveness, and safety of subcutaneous (SC) abatacept treatment over 24 months in patients with polyarticular-course juvenile idiopathic arthritis (JIA). METHODS: In this phase III, open-label, internation ... Full text Link to item Cite

Brief Report: The Genetic Profile of Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis Resembles That of Adult Rheumatoid Arthritis.

Journal Article Arthritis Rheumatol · June 2018 OBJECTIVE: Juvenile idiopathic arthritis (JIA) comprises 7 heterogeneous categories of chronic childhood arthritides. Approximately 5% of children with JIA have rheumatoid factor (RF)-positive arthritis, which phenotypically resembles adult rheumatoid arth ... Full text Open Access Link to item Cite

Nicotinamide Phosphoribosyltransferase Deficiency Potentiates the Antiproliferative Activity of Methotrexate through Enhanced Depletion of Intracellular ATP.

Journal Article J Pharmacol Exp Ther · April 2018 Lower plasma nicotinamide phosphoribosyltransferase (NAMPT) levels are associated with improved response to methotrexate (MTX) in patients with juvenile idiopathic arthritis. Cell-based studies confirmed that reduced cellular NAMPT activity potentiates the ... Full text Link to item Cite

Genome-Wide Association Meta-Analysis Reveals Novel Juvenile Idiopathic Arthritis Susceptibility Loci.

Journal Article Arthritis Rheumatol · November 2017 OBJECTIVE: Juvenile idiopathic arthritis (JIA) is the most common childhood rheumatic disease and has a strong genomic component. To date, JIA genetic association studies have had limited sample sizes, used heterogeneous patient populations, or included on ... Full text Open Access Link to item Cite

Clinical Trial Design in Juvenile Idiopathic Arthritis.

Journal Article Paediatr Drugs · October 2017 Randomized clinical trials provide the gold standard evidence base to guide clinical practice. Despite major advances in trial design, pediatric clinical trials are still difficult to perform and pose unique challenges, including the need to consider the i ... Full text Link to item Cite

Transcriptional profiles of JIA patient blood with subsequent poor response to methotrexate.

Journal Article Rheumatology (Oxford) · September 1, 2017 OBJECTIVE: The mechanisms that determine the efficacy or inefficacy of MTX in JIA are ill-defined. The objective of this study was to identify a gene expression transcriptional signature associated with poor response to MTX in patients with JIA. METHODS: R ... Full text Link to item Cite

Association of Anti-3-Hydroxy-3-Methylglutaryl-Coenzyme A Reductase Autoantibodies With DRB1*07:01 and Severe Myositis in Juvenile Myositis Patients.

Journal Article Arthritis Care Res (Hoboken) · July 2017 OBJECTIVE: Autoantibodies recognizing 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) are associated with statin exposure, the HLA allele DRB1*11:01, and necrotizing muscle biopsies in adult myositis patients. The aim of this study was to character ... Full text Link to item Cite

Cytokine Biomarkers of Disease Activity and Therapeutic Response after Initiating Methotrexate Therapy in Patients with Juvenile Idiopathic Arthritis.

Journal Article Pharmacotherapy · June 2017 STUDY OBJECTIVE: To evaluate the relationship between plasma cytokine levels with disease activity and therapeutic response in patients with juvenile idiopathic arthritis (JIA) after initiating methotrexate (MTX) therapy. DESIGN: Single-center observationa ... Full text Link to item Cite

2016 American College of Rheumatology/European League Against Rheumatism Criteria for Minimal, Moderate, and Major Clinical Response in Juvenile Dermatomyositis: An International Myositis Assessment and Clinical Studies Group/Paediatric Rheumatology International Trials Organisation Collaborative Initiative.

Journal Article Arthritis Rheumatol · May 2017 OBJECTIVE: To develop response criteria for juvenile dermatomyositis (DM). METHODS: We analyzed the performance of 312 definitions that used core set measures from either the International Myositis Assessment and Clinical Studies Group (IMACS) or the Paedi ... Full text Link to item Cite

Fine-mapping the MHC locus in juvenile idiopathic arthritis (JIA) reveals genetic heterogeneity corresponding to distinct adult inflammatory arthritic diseases.

Journal Article Ann Rheum Dis · April 2017 OBJECTIVES: Juvenile idiopathic arthritis (JIA) is a heterogeneous group of diseases, comprising seven categories. Genetic data could potentially be used to help redefine JIA categories and improve the current classification system. The human leucocyte ant ... Full text Link to item Cite

Decreasing patient cost and travel time through pediatric rheumatology telemedicine visits.

Journal Article Pediatr Rheumatol Online J · September 20, 2016 BACKGROUND: There is a critical shortage of pediatric rheumatologists in the US. Substantial travel to clinics can impose time and monetary burdens on families. The aim of this study was to evaluate the cost of in-person pediatric rheumatology visits for f ... Full text Link to item Cite

A randomized controlled trial of methotrexate for patients with generalized myasthenia gravis.

Journal Article Neurology · July 5, 2016 OBJECTIVE: To determine the steroid-sparing effect of methotrexate (MTX) in patients with symptomatic generalized myasthenia gravis (MG). METHODS: We performed a 12-month multicenter, randomized, double-blind, placebo-controlled trial of MTX 20 mg orally e ... Full text Link to item Cite

Nicotinamide Phosphoribosyltransferase Attenuates Methotrexate Response in Juvenile Idiopathic Arthritis and In Vitro.

Journal Article Clin Transl Sci · June 2016 Variability in response to methotrexate (MTX) in the treatment of juvenile idiopathic arthritis (JIA) remains unpredictable and poorly understood. Based on previous studies implicating an interaction between nicotinamide phosphoribosyltransferase (NAMPT) e ... Full text Link to item Cite

Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility.

Journal Article BMC Med Genet · March 22, 2016 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 ide ... Full text Link to item Cite

Familial autoimmunity in the Childhood Arthritis and Rheumatology Research Alliance registry.

Journal Article Pediatr Rheumatol Online J · March 10, 2016 BACKGROUND: Clinically distinct autoimmune phenotypes share genetic susceptibility factors. We investigated the prevalence of familial autoimmunity among subjects with juvenile idiopathic arthritis (JIA), childhood systemic lupus erythematosus (cSLE) and j ... Full text Link to item Cite

Disease modifying anti-rheumatic drugs in juvenile idiopathic arthritis: striving for individualized therapy

Journal Article Expert Review of Precision Medicine and Drug Development · January 2, 2016 Disease-Modifying Anti-Rheumatic Drug (DMARD) use in the treatment of juvenile idiopathic arthritis (JIA) has experienced a dramatic evolution since the early introduction of methotrexate in the 1970’s. This renaissance has been primarily driven by innovat ... Full text Cite

Using Methotrexate Metabolites to Make Clinical Decisions in JIA

Journal Article Current Treatment Options in Rheumatology · December 1, 2015 Determining how to optimally treat juvenile idiopathic arthritis (JIA) remains a challenge, although we are better equipped to do so now than ever before. Capitalizing on currently available therapies for rapid and sustained disease control remains incredi ... Full text Cite

Genetic sharing and heritability of paediatric age of onset autoimmune diseases.

Journal Article Nat Commun · October 9, 2015 Autoimmune diseases (AIDs) are polygenic diseases affecting 7-10% of the population in the Western Hemisphere with few effective therapies. Here, we quantify the heritability of paediatric AIDs (pAIDs), including JIA, SLE, CEL, T1D, UC, CD, PS, SPA and CVI ... Full text Open Access Link to item Cite

Genetic sharing and heritability of paediatric age of onset autoimmune diseases.

Journal Article Nat Commun · October 9, 2015 Autoimmune diseases (AIDs) are polygenic diseases affecting 7-10% of the population in the Western Hemisphere with few effective therapies. Here, we quantify the heritability of paediatric AIDs (pAIDs), including JIA, SLE, CEL, T1D, UC, CD, PS, SPA and CVI ... Full text Open Access Link to item Cite

The association of PTPN22 rs2476601 with juvenile idiopathic arthritis is specific to females.

Journal Article Genes Immun · October 2015 A preponderance of females develop autoimmune disease, including juvenile idiopathic arthritis (JIA), yet the reason for this bias remains elusive. Evidence suggests that genetic risk of disease may be influenced by sex. PTPN22 rs2476601 is associated with ... Full text Link to item Cite

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

Journal Article Nat Med · September 2015 Genome-wide association studies (GWASs) have identified hundreds of susceptibility genes, including shared associations across clinically distinct autoimmune diseases. We performed an inverse χ(2) meta-analysis across ten pediatric-age-of-onset autoimmune ... Full text Open Access Link to item Cite

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

Journal Article Nat Med · September 2015 Genome-wide association studies (GWASs) have identified hundreds of susceptibility genes, including shared associations across clinically distinct autoimmune diseases. We performed an inverse χ(2) meta-analysis across ten pediatric-age-of-onset autoimmune ... Full text Open Access Link to item Cite

Epistasis amongst PTPN2 and genes of the vitamin D pathway contributes to risk of juvenile idiopathic arthritis.

Journal Article J Steroid Biochem Mol Biol · January 2015 Juvenile idiopathic arthritis (JIA) is a leading cause of childhood-onset disability. Although epistasis (gene-gene interaction) is frequently cited as an important component of heritability in complex diseases such as JIA, there is little compelling evide ... Full text Link to item Cite

Folate depletion and increased glutamation in juvenile idiopathic arthritis patients treated with methotrexate.

Journal Article Arthritis Rheumatol · December 2014 OBJECTIVE: Folates exist as a fluctuating pool of polyglutamated metabolites that may serve as a clinical marker of methotrexate (MTX) activity. This study was undertaken to evaluate circulating folate content and folate polyglutamate distribution in juven ... Full text Link to item Cite

Choosing Wisely: the American College of Rheumatology's Top 5 for pediatric rheumatology.

Journal Article Arthritis Care Res (Hoboken) · May 2014 OBJECTIVE: To create a pediatric rheumatology Top 5 list as part of the American Board of Internal Medicine Foundation's Choosing Wisely campaign. METHODS: Delphi surveys of a core group of representative pediatric rheumatology providers from across North ... Full text Link to item Cite

Therapeutic advancements in juvenile idiopathic arthritis.

Journal Article Best Pract Res Clin Rheumatol · April 2014 The treatment of juvenile idiopathic arthritis (JIA) has substantially evolved over the past two decades. Research has been conducted and is ongoing on how therapies can best be utilized either as monotherapy or in combination for enhanced efficacy. The in ... Full text Link to item Cite

Clinical characteristics of children with juvenile dermatomyositis: the Childhood Arthritis and Rheumatology Research Alliance Registry.

Journal Article Arthritis Care Res (Hoboken) · March 2014 OBJECTIVE: To investigate aspects of juvenile dermatomyositis (DM), including disease characteristics and treatment, through a national multicenter registry. METHODS: Subjects meeting the modified Bohan and Peter criteria for definite juvenile DM were anal ... Full text Link to item Cite

Methotrexate: new uses for an old drug.

Journal Article J Pediatr · February 2014 Full text Link to item Cite

Combined meta-analysis of systemic effects of allogeneic stem cell transplantation and systemic sclerosis

Journal Article BMC Hematology · January 1, 2014 Background: Chronic graft-versus-host disease (cGVHD) is a major factor of morbidity and mortality for allogeneic stem cell transplantation (aSCT). The skin and internal organ involvement is the most common systemic complication of cGVHD and closely resemb ... Full text Cite

Pharmacogenomics in childhood rheumatic disorders: a foundation for future individualized therapy.

Journal Article Discov Med · December 2013 Investigating the effect of genotype on drug response in children is an evolving field, with many challenges, but there is great potential to optimize safe and effective use of drugs in children. An exponential increase in available medications for use in ... Link to item Cite

Low-dose methotrexate results in the selective accumulation of aminoimidazole carboxamide ribotide in an erythroblastoid cell line.

Journal Article J Pharmacol Exp Ther · October 2013 Therapeutic and toxic response to low-dose methotrexate (MTX) in the treatment of autoimmune disease continues to be highly variable, resulting in a critical need to identify predictive biomarkers of response. Biomarker development has been hampered by an ... Full text Link to item Cite

Role of methotrexate in juvenile idiopathic arthritis: Where we have been and where we are going

Journal Article International Journal of Clinical Rheumatology · February 1, 2013 Methotrexate is a cornerstone of therapy worldwide for juvenile idiopathic arthritis, yet there remains vast variability in drug dosing and administration, as well as unpredictable outcomes on the drug. Recent efforts through worldwide organization and col ... Full text Cite

Fever, irritability, and ulcerations in an infant.

Journal Article Pediatr Dermatol · 2013 A young infant with fever and oral ulcerations is presented herein. Extensive infectious, nutritional, immunodeficiency and autoimmune work up was performed. Pertinent maternal history suggested the potential diagnosis of neonatal Behçet's, and treatment f ... Full text Link to item Cite

Pharmacogenomics in pediatric rheumatology.

Journal Article Curr Opin Rheumatol · September 2012 PURPOSE OF REVIEW: Despite major advancements in therapeutics, variability in drug response remains a challenge in both adults and children diagnosed with rheumatic disease. The genetic contribution to interindividual variability has emerged as a promising ... Full text Link to item Cite

Development of consensus treatment plans for juvenile localized scleroderma: a roadmap toward comparative effectiveness studies in juvenile localized scleroderma.

Journal Article Arthritis Care Res (Hoboken) · August 2012 OBJECTIVE: Juvenile localized scleroderma (LS) is a chronic inflammatory skin disorder associated with substantial morbidity and disability. Although a wide range of therapeutic strategies has been reported in the literature, a lack of agreement on treatme ... Full text Link to item Cite

Comprehensive quantitative measurement of folate polyglutamates in human erythrocytes by ion pairing ultra-performance liquid chromatography/tandem mass spectrometry.

Journal Article Rapid Commun Mass Spectrom · July 30, 2012 RATIONALE: The erythrocyte folate pool is reflective of an individual's long-term folate status; however, comprehensive quantitative determination of the various folate isoforms including polyglutamation (Glu(n)) status has posed an analytical problem. Fac ... Full text Link to item Cite

Investigation of rheumatoid arthritis susceptibility loci in juvenile idiopathic arthritis confirms high degree of overlap.

Journal Article Ann Rheum Dis · July 2012 OBJECTIVES: Rheumatoid arthritis (RA) shares some similar clinical and pathological features with juvenile idiopathic arthritis (JIA); indeed, the strategy of investigating whether RA susceptibility loci also confer susceptibility to JIA has already proved ... Full text Link to item Cite

Global tests of P-values for multifactor dimensionality reduction models in selection of optimal number of target genes

Journal Article BioData Mining · May 23, 2012 Background: Multifactor Dimensionality Reduction (MDR) is a popular and successful data mining method developed to characterize and detect nonlinear complex gene-gene interactions (epistasis) that are associated with disease susceptibility. Because MDR use ... Full text Cite

Red blood cell folate concentrations and polyglutamate distribution in juvenile arthritis: predictors of folate variability.

Journal Article Pharmacogenet Genomics · April 2012 OBJECTIVE: Methotrexate (MTX) has several enzymatic targets in the folate pathway. To better understand the variability in response to MTX, we characterized the interindividual variability of intracellular folate pools in children with juvenile arthritis ( ... Full text Link to item Cite

Optimization of pediatric rheumatology therapeutics.

Journal Article Clin Pharmacol Ther · April 2012 Therapeutics used in pediatric rheumatology have evolved substantially over the past few decades; they currently target specific cytokines that are known to be involved in the pathophysiology of these complex diseases. The field is limited by a lack of ful ... Full text Link to item Cite

Development of biomarkers to optimize pediatric patient management: what makes children different?

Journal Article Biomark Med · December 2011 Despite the frequent utilization of biomarkers in medical practice, there is a relative paucity of information regarding validated pediatric biomarkers. Frequently, biomarkers found to be efficacious in adults are extrapolated to the pediatric clinical set ... Full text Link to item Cite

Measurement of methotrexate polyglutamates in human erythrocytes by ion-pair UPLC-MS/MS.

Journal Article Bioanalysis · December 2011 BACKGROUND: Low-dose methotrexate is used for the treatment of rheumatoid arthritis and juvenile idiopathic arthritis, but its effectiveness greatly varies between individuals. Therapeutic drug monitoring of intracellular methotrexate metabolites, the γ-po ... Full text Link to item Cite

PharmGKB summary: methotrexate pathway.

Journal Article Pharmacogenet Genomics · October 2011 Full text Link to item Cite

Derivation of minimum best sample size from microarray data sets: A Monte Carlo approach

Conference IEEE SSCI 2011 - Symposium Series on Computational Intelligence - CIBCB 2011: 2011 IEEE Symposium on Computational Intelligence in Bioinformatics and Computational Biology · September 28, 2011 NCBI has been accumulating a large repository of microarray data sets, namely Gene Expression Omnibus (GEO). GEO is a great resource enabling one to pursue various biological and pathological questions. The question we ask here is: given a set of gene sign ... Full text Cite

Skin Target Lesion

Book · August 3, 2011 Full text Cite

Developmental pharmacogenomics.

Journal Article Paediatr Anaesth · March 2011 Interindividual variability in the disposition and action associated with similar doses of a given medication is an inherent characteristic of both adult and pediatric populations. Genotype-phenotype relationships in infants and children must take into acc ... Full text Link to item Cite

The effect of genotype on methotrexate polyglutamate variability in juvenile idiopathic arthritis and association with drug response.

Journal Article Arthritis Rheum · January 2011 OBJECTIVE: The response to and toxicity of methotrexate (MTX) are unpredictable in patients with juvenile idiopathic arthritis (JIA). Intracellular polyglutamation of MTX, assessed by measuring concentrations of MTX polyglutamates (MTXGlu), has been demons ... Full text Link to item Cite

Investigation of type 1 diabetes and coeliac disease susceptibility loci for association with juvenile idiopathic arthritis

Journal Article Annals of the Rheumatic Diseases · December 1, 2010 Background: There is strong evidence suggesting that juvenile idiopathic arthritis (JIA) shares many susceptibility loci with other autoimmune diseases. Objective: To investigate variants robustly associated with type 1 diabetes (T1D) or coeliac disease (C ... Full text Cite

Identifying genomic and developmental causes of adverse drug reactions in children.

Journal Article Pharmacogenomics · November 2010 Adverse drug reactions are a concern for all clinicians who utilize medications to treat adults and children; however, the frequency of adult and pediatric adverse drug reactions is likely to be under-reported. In this age of genomics and personalized medi ... Full text Link to item Cite

Association of the CCR5 gene with juvenile idiopathic arthritis.

Journal Article Genes Immun · October 2010 The CC chemokine receptor 5 (CCR5) has been shown to be important in the recruitment of T-helper cells to the synovium, where they accumulate, drive the inflammatory process and the consequent synovitis and joint destruction. A 32 base-pair insertion/delet ... Full text Link to item Cite

Developmental pharmacogenetics in pediatric rheumatology: Utilizing a new paradigm to effectively treat patients with juvenile idiopathic arthritis with methotrexate

Journal Article Human Genomics and Proteomics · August 13, 2010 Although methotrexate is widely used in clinical practice there remains significant lack of understanding of its mechanisms of action and the factors that contribute to the variability in toxicity and response seen clinically. In addition to differences in ... Full text Cite

Expedient methodology for total methotrexate polyglutamation pool determination in human erythrocytes

Journal Article Analytical Methods · July 1, 2010 The measurement of methotrexate polyglutamate metabolites in red blood cells has potential to aid in individualization of methotrexate therapy in rheumatoid arthritis and juvenile idiopathic arthritis. In this report a method is presented for rapid analysi ... Full text Cite

Analysis of intracellular methotrexate polyglutamates in patients with juvenile idiopathic arthritis: effect of route of administration on variability in intracellular methotrexate polyglutamate concentrations.

Journal Article Arthritis Rheum · June 2010 OBJECTIVE: Intracellular methotrexate (MTX) polyglutamates (MTXGlu) have been shown to be potentially useful biomarkers of clinical response in adult patients with rheumatoid arthritis. The present study was undertaken to measure intracellular MTXGlu conce ... Full text Link to item Cite

Effectiveness and toxicity of methotrexate in juvenile idiopathic arthritis: comparison of 2 initial dosing regimens.

Journal Article J Rheumatol · April 2010 OBJECTIVE: To compare the incidence of liver toxicity and clinical response between 2 initial dosing regimens of methotrexate (MTX) for treatment of juvenile idiopathic arthritis (JIA). METHODS: Clinical and laboratory data were abstracted from the medical ... Full text Link to item Cite

A novel high-performance liquid chromatography/mass spectrometry method for improved selective and sensitive measurement of methotrexate polyglutamation status in human red blood cells.

Journal Article Rapid Commun Mass Spectrom · December 2009 The folate antagonist methotrexate is commonly used in low dose for treatment of rheumatoid arthritis and juvenile idiopathic arthritis. Therapeutic effects are attributed to intracellular levels of various methotrexate polyglutamates. The present methodol ... Full text Link to item Cite

Identification of a novel susceptibility locus for juvenile idiopathic arthritis by genome-wide association analysis.

Journal Article Arthritis Rheum · January 2009 OBJECTIVE: Juvenile idiopathic arthritis (JIA) is a chronic rheumatic disease of childhood. Two well-established genetic factors known to contribute to JIA susceptibility, HLA and PTPN22, account for less than half of the genetic susceptibility to disease; ... Full text Link to item Cite

Association of the IL2RA/CD25 gene with juvenile idiopathic arthritis.

Journal Article Arthritis Rheum · January 2009 OBJECTIVE: IL2RA/CD25, the gene for interleukin-2 receptor alpha, is emerging as a general susceptibility gene for autoimmune diseases because of its role in the development and function of regulatory T cells and the association of single-nucleotide polymo ... Full text Link to item Cite

Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15.

Journal Article Arthritis Rheum · April 2007 This is the first report of a CARD15 mutation-positive patient with Blau syndrome who exhibited interstitial lung disease, a feature historically considered absent from Blau syndrome, while typical of the adult form of sarcoidosis. This case illustrates th ... Full text Link to item Cite

Positive association of SLC26A2 gene polymorphisms with susceptibility to systemic-onset juvenile idiopathic arthritis.

Journal Article Arthritis Rheum · April 2007 OBJECTIVE: To investigate SLC26A2, the gene that causes diastrophic dysplasia, in juvenile idiopathic arthritis (JIA). METHODS: Nine polymorphisms across the SLC26A2 gene locus were investigated using MassArray genotyping in 826 UK Caucasian JIA cases and ... Full text Link to item Cite

Blau syndrome and related genetic disorders causing childhood arthritis.

Journal Article Curr Rheumatol Rep · December 2005 Blau Syndrome (BS) is an inheritable disorder characterized by granulomatous polyarthritis, panuveitis, and exanthema. It was described by Edward Blau in 1985, the same year in which Douglas Jabs reported a very similar family. Clinically indistinguishable ... Full text Link to item Cite

Linkage and association studies of discoidin domain receptor 1 (DDR1) single nucleotide polymorphisms (SNPs) in juvenile oligoarthritis.

Journal Article Rheumatology (Oxford) · September 2004 OBJECTIVES: Multiple independent juvenile oligoarthritis susceptibility loci have been identified within the major histocompatibility complex (MHC), including HLA-A, HLA-DRB1 and an as yet unlocalized effect in the centromeric class I region. The discoidin ... Full text Link to item Cite

A functional promoter haplotype of macrophage migration inhibitory factor is linked and associated with juvenile idiopathic arthritis.

Journal Article Arthritis Rheum · May 2004 OBJECTIVE: To establish linkage and replicate the association of macrophage migration inhibitory factor (MIF) with juvenile idiopathic arthritis (JIA). METHODS: Three hundred twenty-one Caucasian simplex families from the UK were genotyped for polymorphism ... Full text Link to item Cite

Functional and prognostic relevance of the -173 polymorphism of the macrophage migration inhibitory factor gene in systemic-onset juvenile idiopathic arthritis.

Journal Article Arthritis Rheum · May 2003 OBJECTIVE: To address the functional and prognostic relevance of the -173 single-nucleotide G-to-C polymorphism of the macrophage migration inhibitory factor (MIF) gene in patients with systemic-onset juvenile idiopathic arthritis (systemic-onset JIA) by e ... Full text Link to item Cite

Linkage and association studies of single-nucleotide polymorphism-tagged tumor necrosis factor haplotypes in juvenile oligoarthritis.

Journal Article Arthritis Rheum · December 2002 OBJECTIVE: The presence of increased levels of tumor necrosis factor (TNF) in serum and synovial fluid of patients and the encouraging outcome of anti-TNF therapy have implicated TNFalpha in the etiopathogenesis of juvenile oligoarthritis. Although the loc ... Full text Link to item Cite

Evidence for linkage of HLA loci in juvenile idiopathic oligoarthritis: independent effects of HLA-A and HLA-DRB1.

Journal Article Arthritis Rheum · October 2002 OBJECTIVE: Although multiple associations between HLA loci and juvenile oligoarthritis have previously been documented, evidence for linkage of HLA loci in oligoarthritis in UK Caucasians with juvenile idiopathic arthritis (JIA) has not been described. The ... Full text Link to item Cite

Mutation screening of the macrophage migration inhibitory factor gene: positive association of a functional polymorphism of macrophage migration inhibitory factor with juvenile idiopathic arthritis.

Journal Article Arthritis Rheum · September 2002 OBJECTIVE: To determine if polymorphisms of the macrophage migration inhibitory factor (MIF) gene are associated with juvenile idiopathic arthritis (JIA). METHODS: Denaturing high-performance liquid chromatography was used to screen the MIF gene in 32 UK C ... Full text Link to item Cite

Neuroendocrine gene polymorphisms and susceptibility to juvenile idiopathic arthritis.

Journal Article Rheumatology (Oxford) · August 2002 OBJECTIVE: To investigate the involvement of neuroendocrine candidate genes in the aetiopathogenesis of juvenile idiopathic arthritis (JIA). METHODS: Single-nucleotide polymorphisms and intragenic microsatellite markers within five neuroendocrine candidate ... Full text Link to item Cite

Tumour necrosis factor receptor II polymorphism and juvenile idiopathic arthritis.

Journal Article Rheumatology (Oxford) · April 2002 OBJECTIVES: Juvenile idiopathic arthritis (JIA) is a complex polygenic disorder. The encouraging outcome of anti-tumour necrosis factor (TNF) treatment, as well as serological studies, has implicated TNF and its receptors (TNFRI and TNFRII, or TNFRSF1B) in ... Full text Link to item Cite

Lack of association between juvenile idiopathic arthritis and fas gene polymorphism.

Journal Article J Rheumatol · January 2002 OBJECTIVE: Juvenile idiopathic arthritis (JIA) is a complex genetic disease of autoimmune etiology. Fas is a molecule with a pivotal role in apoptosis and hence in immune regulation. Elevated transcriptional levels of Fas in the synovial fluid of patients ... Link to item Cite

May Thurner Syndrome

Journal Article Consultant for Pediatricians Cite