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Rabinovich, egla

Stephen J Balevic, C Egla Rabinovich
Uveitis refers to the presence of intraocular inflammation, and as a strict definition compromises the iris and ciliary body anteriorly and the choroid posteriorly (the uvea). Untreated, uveitis can lead to visual loss or blindness. The etiology of uveitis can include both infectious and noninfectious (usually immune-mediated) causes, the latter of which are often mediated predominantly by Th1 CD4(+) T-cells that secrete proinflammatory cytokines. Tumor necrosis factor-alpha (TNF-α) is a proinflammatory cytokine involved in the pathogenesis of uveitis, which at high concentrations can cause excess inflammation and tissue damage...
2016: Drug Design, Development and Therapy
Sheila T Angeles-Han, Consuelo Egla Rabinovich
PURPOSE OF REVIEW: The review provides updates on novel risk markers for the development of pediatric inflammatory uveitis and a severe disease course, on treatment of refractory disease, and on the measurement of visual outcomes. RECENT FINDINGS: There are several new genetic markers, biomarkers, and clinical factors that may influence a child's uveitis disease course. It is important to identify children at risk for poor visual outcomes and who are refractory to traditional therapy...
September 2016: Current Opinion in Rheumatology
Lauren A Henderson, David Zurakowski, Sheila T Angeles-Han, Andrew Lasky, C Egla Rabinovich, Mindy S Lo
BACKGROUND: There is not yet a commonly accepted, standardized approach in the treatment of juvenile idiopathic uveitis when initial steroid therapy is insufficient. We sought to assess current practice patterns within a large cohort of children with juvenile uveitis. METHODS: This is a cross-sectional cohort study of patients with uveitis enrolled in the Childhood Arthritis and Rheumatology Research Alliance (CARRAnet) registry. Clinical information including, demographic information, presenting features, disease complications, and medications were collected...
2016: Pediatric Rheumatology Online Journal
Shan Elahi, Alison Homstad, Himani Vaidya, Jennifer Stout, Gentzon Hall, Guanghong Wu, Peter Conlon, Jonathan C Routh, John S Wiener, Sherry S Ross, Shashi Nagaraj, Delbert Wigfall, John Foreman, Adebowale Adeyemo, Indra R Gupta, Patrick D Brophy, C Egla Rabinovich, Rasheed A Gbadegesin
BACKGROUND: Primary vesicoureteral reflux (PVUR) is the most common malformation of the kidney and urinary tract, and reflux nephropathy is a major cause of chronic kidney disease in children. Recently, we reported mutations in the tenascin XB gene (TNXB) as a cause of PVUR with joint hypermobility. METHODS: To define the role of rare variants in tenascin genes in the etiology of PVUR, we screened a cohort of patients with familial PVUR (FPVUR) and non-familial PVUR (NFPVUR) for rare missense variants inTNXB and the tenascin C gene (TNC) after excluding mutations in ROBO2 and SOX17...
February 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Joseph Ali, Joseph E Andrews, Carol P Somkin, C Egla Rabinovich
To produce evidence capable of informing healthcare decision making at all critical levels, pragmatic clinical trials are diverse both in terms of the type of intervention (medical, behavioral, and/or technological) and the target of intervention (patients, clinicians, and/or healthcare system processes). Patients and clinicians may be called on to participate as designers, investigators, intermediaries, or subjects of pragmatic clinical trials. Other members of the healthcare team, as well as the healthcare system itself, also may be affected directly or indirectly before, during, or after study implementation...
October 2015: Clinical Trials: Journal of the Society for Clinical Trials
Angela Byun Robinson, Vin Tangpricha, Eric Yow, Reut Gurion, Laura E Schanberg, Grace A McComsey
OBJECTIVE: Epidemiological associations suggest that vitamin D status may play a role in inflammation and progression of atherosclerosis. Using frozen serum, carotid intima medial thickness (CIMT) measurements and other existing data from the Atherosclerosis Prevention in Pediatric Lupus Erythematosus (APPLE) trial, we assessed interactions between serum 25-hydroxyvitamin D (25(OH)D), atorvastatin randomisation and CIMT progression rate. METHODS: Participants in the 3-year APPLE trial were randomised to placebo or atorvastatin and CIMT progression rate was measured...
2014: Lupus Science & Medicine
Angela Byun Robinson, Vin Tangpricha, Eric Yow, Reut Gurion, Grace A McComsey, Laura E Schanberg
OBJECTIVE: Epidemiological associations suggest vitamin D may play a role in inflammation and atherosclerosis. Using frozen serum and data from the Atherosclerosis Prevention in Pediatric Lupus Erythematosus (APPLE) trial, we assessed associations between 25-hydroxyvitamin D [25(OH)D] and measures of systemic lupus erythematosus (SLE) disease activity and cardiovascular risk. METHODS: Baseline APPLE serum samples were used to measure 25(OH)D levels. Logistic regression models for vitamin D deficiency [25(OH)D levels <20 ng/mL] were constructed using baseline variables collected as part of the trial, including race, season, latitude, disease duration, disease activity, high-sensitivity C-reactive protein (hsCRP), proteinuria, fasting lipids and carotid intima medial thickness (CIMT)...
2014: Lupus Science & Medicine
Angela R Bryan, C Egla Rabinovich
Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease in childhood. Enthesitis-related arthritis (ERA) is one of the seven JIA subtypes classified by the International League of Associations for Rheumatology (ILAR). Due to inclusion and exclusion criteria, a pitfall of the ERA category is that it does not include all subsets of juvenile spondyloarthropathy, with many children ending up in the undifferentiated category. The ERA nomenclature also does not have a method for distinguishing between axial and peripheral disease, two phenotypes which vary in presentation and treatment requirements...
December 2014: Current Rheumatology Reports
Sarah Ringold, Audrey Hendrickson, Leslie Abramson, Timothy Beukelman, Peter R Blier, John Bohnsack, Elizabeth C Chalom, Harry L Gewanter, Beth Gottlieb, Roger Hollister, Joyce Hsu, Andrea Hudgins, Norman T Ilowite, Marisa Klein-Gitelman, Carol Lindsley, Jorge M Lopez Benitez, Daniel J Lovell, Tom Mason, Diana Milojevic, Lakshmi N Moorthy, Kabita Nanda, Karen Onel, Sampath Prahalad, C Egla Rabinovich, Linda Ray, Kelly Rouster-Stevens, Natasha Ruth, Michael Shishov, Steven Spalding, Reema Syed, Matthew Stoll, Richard K Vehe, Jennifer E Weiss, Andrew J White, Carol A Wallace, Rachel E Sobel
OBJECTIVE: Few data are available regarding the rates of serious adverse events (SAEs) and important medical events (IMEs) outside of product-based registries and clinical trials for juvenile idiopathic arthritis (JIA). The Enhanced Drug Safety Surveillance Project (EDSSP) was developed to pilot a novel system to collect SAEs/IMEs in children with JIA. This analysis reports the results from this 4-year (2008-2012) EDSSP. METHODS: Participating physicians were surveyed monthly to ascertain whether their JIA patients experienced an SAE or IME...
April 2015: Arthritis Care & Research
Ioannis Kalampokis, C Egla Rabinovich
Clinicians are frequently confronted with patients presenting with oral aphthous ulcers or orogenital aphthae. Patients with complex aphthosis are characterized by the nearly constant presence of more than 3 oral aphthous ulcers or recurrent orogenital aphthae but do not satisfy the criteria for Behçet disease. We report a severe case of pediatric-onset complex aphthosis with poor response and/or significant toxicity to first-line medications. Lenalidomide, a second-generation immunomodulatory drug, induced a complete disease remission within few days of therapy...
June 2014: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
Philip J Hashkes, Mara L Becker, David A Cabral, Ronald M Laxer, Amy S Paller, C Egla Rabinovich, Dan Turner, Francesco Zulian
No abstract text is available yet for this article.
February 2014: Journal of Pediatrics
Rasheed A Gbadegesin, Patrick D Brophy, Adebowale Adeyemo, Gentzon Hall, Indra R Gupta, David Hains, Bartlomeij Bartkowiak, C Egla Rabinovich, Settara Chandrasekharappa, Alison Homstad, Katherine Westreich, Guanghong Wu, Yutao Liu, Danniele Holanda, Jason Clarke, Peter Lavin, Angelica Selim, Sara Miller, John S Wiener, Sherry S Ross, John Foreman, Charles Rotimi, Michelle P Winn
Primary vesicoureteral reflux (VUR) is the most common congenital anomaly of the kidney and the urinary tract, and it is a major risk factor for pyelonephritic scarring and CKD in children. Although twin studies support the heritability of VUR, specific genetic causes remain elusive. We performed a sequential genome-wide linkage study and whole-exome sequencing in a family with hereditary VUR. We obtained a significant multipoint parametric logarithm of odds score of 3.3 on chromosome 6p, and whole-exome sequencing identified a deleterious heterozygous mutation (T3257I) in the gene encoding tenascin XB (TNXB in 6p21...
July 2013: Journal of the American Society of Nephrology: JASN
Yukiko Kimura, Jennifer E Weiss, Kathryn L Haroldson, Tzielan Lee, Marilynn Punaro, Sheila Oliveira, Egla Rabinovich, Meredith Riebschleger, Jordi Antón, Peter R Blier, Valeria Gerloni, Melissa M Hazen, Elizabeth Kessler, Karen Onel, Murray H Passo, Robert M Rennebohm, Carol A Wallace, Patricia Woo, Nico Wulffraat
OBJECTIVE: Systemic juvenile idiopathic arthritis (JIA) is characterized by fevers, rash, and arthritis, for which interleukin-1 (IL-1) and IL-6 inhibitors appear to be effective treatments. Pulmonary arterial hypertension (PAH), interstitial lung disease (ILD), and alveolar proteinosis (AP) have recently been reported with increased frequency in systemic JIA patients. Our aim was to characterize and compare systemic JIA patients with these complications to a larger cohort of systemic JIA patients...
May 2013: Arthritis Care & Research
América G Uribe, Adam M Huber, Susan Kim, Kathleen M O'Neil, Dawn M Wahezi, Leslie Abramson, Kevin Baszis, Susanne M Benseler, Suzanne L Bowyer, Sarah Campillo, Peter Chira, Aimee O Hersh, Gloria C Higgins, Anne Eberhard, Kaleo Ede, Lisa F Imundo, Lawrence Jung, Daniel J Kingsbury, Marisa Klein-Gitelman, Erica F Lawson, Suzanne C Li, Daniel J Lovell, Thomas Mason, Deborah McCurdy, Eyal Muscal, Lorien Nassi, Egla Rabinovich, Andreas Reiff, Margalit Rosenkranz, Kenneth N Schikler, Nora G Singer, Steven Spalding, Anne M Stevens, David A Cabral
OBJECTIVE: Granulomatosis with polyangiitis (Wegener's; GPA) and other antineutrophil cytoplasmic antibody (ANCA)-associated vasculitides (AAV) are rare in childhood and are sometimes difficult to discriminate. We compared use of adult-derived classification schemes for GPA against validated pediatric criteria in the ARChiVe (A Registry for Childhood Vasculitis e-entry) cohort, a Childhood Arthritis and Rheumatology Research Alliance initiative. METHODS: Time-of-diagnosis data for children with physician (MD) diagnosis of AAV and unclassified vasculitis (UCV) from 33 US/Canadian centers were analyzed...
August 2012: Journal of Rheumatology
Suzanne C Li, Kathryn S Torok, Elena Pope, Fatma Dedeoglu, Sandy Hong, Heidi T Jacobe, C Egla Rabinovich, Ronald M Laxer, Gloria C Higgins, Polly J Ferguson, Andrew Lasky, Kevin Baszis, Mara Becker, Sarah Campillo, Victoria Cartwright, Michael Cidon, Christi J Inman, Rita Jerath, Kathleen M O'Neil, Sheetal Vora, Andrew Zeft, Carol A Wallace, Norman T Ilowite, Robert C Fuhlbrigge
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 treatment specifics and accepted methods for clinical assessment has made it difficult to compare approaches and identify optimal therapy. Our objective was to develop standardized treatment plans, clinical assessments, and response criteria for active, moderate to high severity juvenile LS...
August 2012: Arthritis Care & Research
Arnd Heiligenhaus, Ivan Foeldvari, Clive Edelsten, Justine R Smith, Rotraud K Saurenmann, Bahram Bodaghi, Joke de Boer, Elizabeth Graham, Jordi Anton, Kaisu Kotaniemi, Friederike Mackensen, Kirsten Minden, Susan Nielsen, Egla C Rabinovich, Athimalaipet V Ramanan, Vibeke Strand
OBJECTIVE: To develop a set of core outcome measures for use in randomized controlled trials (RCTs) and longitudinal observational studies in juvenile idiopathic arthritis (JIA)-associated uveitis. METHODS: The literature relating to outcome measures used in studies of uveitis in childhood and adolescence was reviewed. A set of core outcomes and domains was established using the Delphi process. This was reviewed by a representative multinational interdisciplinary working group...
September 2012: Arthritis Care & Research
Kimberly Morishita, Suzanne C Li, Eyal Muscal, Steven Spalding, Jaime Guzman, America Uribe, Leslie Abramson, Kevin Baszis, Susanne Benseler, Suzanne Bowyer, Sarah Campillo, Peter Chira, Aimee O Hersh, Gloria Higgins, Anne Eberhard, Kaleo Ede, Lisa Imundo, Lawrence Jung, Susan Kim, Daniel J Kingsbury, Marisa Klein-Gitelman, Erica F Lawson, Daniel J Lovell, Thomas Mason, Deborah McCurdy, Kabita Nanda, Lorien Nassi, Kathleen M O'Neil, Egla Rabinovich, Suzanne E Ramsey, Andreas Reiff, Margalit Rosenkranz, Kenneth Schikler, Anne Stevens, Dawn Wahezi, David A Cabral
OBJECTIVE: There are no validated tools for measuring disease activity in pediatric vasculitis. The Birmingham Vasculitis Activity Score (BVAS) is a valid disease activity tool in adult vasculitis. Version 3 (BVAS v.3) correlates well with physician's global assessment (PGA), treatment decision, and C-reactive protein in adults. The utility of BVAS v.3 in pediatric vasculitis is not known. We assessed the association of BVAS v.3 scores with PGA, treatment decision, and erythrocyte sedimentation rate (ESR) at diagnosis in pediatric antineutrophil cytoplasmic antibody-associated vasculitis (AAV)...
May 2012: Journal of Rheumatology
C Egla Rabinovich
The array of paediatric pulmonary complications of the various rheumatologic disorders illustrates both the complexities and challenges of the underlying disorders and the continuing lack of detailed knowledge of the pathophysiology and optimal treatment paradigms in children. While the vertical transfer of information has made much progress from adult studies, such as with the diagnosis and management of pulmonary arterial hypertension, in many instances underlying disorders may differ between children and adults in important and fundamental respects...
March 2012: Paediatric Respiratory Reviews
C Egla Rabinovich
During the past 10 years, descriptions of large registries of children with juvenile systemic sclerosis (jSSc) have improved our knowledge of this disease. jSSc differs from the adult disease in presentation as well as disease course. Two courses of disease have been described: a rapidly progressive and fatal illness with cardiac involvement; and, more commonly, a chronic course with less overall mortality. Subclinical disease, especially cardiac and pulmonary disease, should be specifically sought and appropriately monitored, particularly in the first years of disease...
November 2011: Nature Reviews. Rheumatology
Angela Byun Robinson, Myrtle Thierry-Palmer, Keisha L Gibson, Consuelo Egla Rabinovich
OBJECTIVE: To evaluate relationships among vitamin D, proteinuria, and disease activity in pediatric systemic lupus erythematosus (SLE) and juvenile dermatomyositis (JDM). STUDY DESIGN: Multiple linear regression was used to associate subject-reported race, sunscreen use, and vitamin D intake with physician-assessed disease activity and serum 25-hydroxyvitamin D (25[OH]D) in 58 subjects with pediatric SLE (n=37) or JDM (n=21). Serum 25(OH)D was correlated with urinary vitamin D binding protein/creatinine ratio (DBP/C) and other indicators of proteinuria...
February 2012: Journal of Pediatrics
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