Articles

Shrinking lung syndrome treated with rituximab in pediatric systemic lupus erythematosus: a case report and review of the literature

Shrinking lung syndrome (SLS), a rare complication of systemic lupus erythematosus (SLE) characterized by dyspnea, low lung volumes, and a restrictive pattern on pulmonary function tests (PFTs), has only been ...

Authors: Chelsea DeCoste, Dimas Mateos-Corral and Bianca Lang

Clinical characteristics and poor predictors of anti-NXP2 antibody-associated Chinese JDM children

Juvenile dermatomyositis (JDM) is a rare and sometimes fatal disease in children. The anti-NXP2 antibody is one of the most common antibodies and muscle ischaemia associated with NXP2 autoantibodies was a seve...

Authors: Xinning Wang, Yuchuan Ding, Zhixuan Zhou, Jun Hou, Yingjie Xu and Jianguo Li

Early combination therapy with etanercept and methotrexate in JIA patients shortens the time to reach an inactive disease state and remission: results of a double-blind placebo-controlled trial

Remission is the primary objective of treating juvenile idiopathic arthritis (JIA). It is still debatable whether early intensive treatment is superior in terms of earlier achievement of remission. The aim of ...

Authors: Ekaterina Alexeeva, Gerd Horneff, Tatyana Dvoryakovskaya, Rina Denisova, Irina Nikishina, Elena Zholobova, Viktor Malievskiy, Galina Santalova, Elena Stadler, Larisa Balykova, Yuriy Spivakovskiy, Ivan Kriulin, Alina Alshevskaya and Andrey Moskalev

Do geography and ethnicity play a role in juvenile Spondyloarthritis? A multi-center binational retrospective study

Observations among Israeli pediatric rheumatologists reveal that pediatric Juvenile Spondyloarthritis (JSpA) may present differently compared to patients from the United States (US). This study is aimed to com...

Authors: Nassem Ghantous, Merav Heshin-Bekenstein, Kimberly Dequattro, Yaniv Lakovsky, Amir Moshe Hendel, Nadav Rappoport, Yonatan Butbul Aviel, Irit Tirosh, Liora Harel, Pamela F. Weiss, Lianne Gensler, John Mackenzie and Gil Amarilyo

Suicidal risk and resilience in juvenile fibromyalgia syndrome: a cross-sectional cohort study

To characterize suicidality among youth with juvenile fibromyalgia syndrome (JFMS) receiving treatment from pediatric rheumatologists at a tertiary care center in order to determine the prevalence of suicidali...

Authors: Sabrina Gmuca, Maitry Sonagra, Rui Xiao, Kimberly S. Miller, Nina H. Thomas, Jami F. Young, Pamela F. Weiss, David D. Sherry and Jeffrey S. Gerber

Gastrointestinal perforation in anti-NXP2 antibody-associated juvenile dermatomyositis: case reports and a review of the literature

To summarize the characteristics of gastrointestinal (GI) perforation in anti-nuclear matrix protein 2 (NXP2) antibody-associated juvenile dermatomyositis (JDM).

Authors: Yingjie Xu, Xiaolin Ma, Zhixuan Zhou, Jianguo Li, Jun Hou, Jia Zhu, Min Kang, Jianming Lai and Xiaohui Li

Type I interferonopathies with novel compound heterozygous TREX1 mutations in two siblings with different symptoms responded to tofacitinib

Type I interferonopathies are a group of rare autoimmune diseases characterised by excessive activation of type I interferon that leads to disturbances in immune function. Three prime repair exonuclease 1 (TRE...

Authors: Shiyu Zhang, Jiaxing Song, Yuyan Yang, Huilei Miao, Lu Yang, Yuehua Liu, Xue Zhang, Yaping Liu and Tao Wang

Proceedings of the 26th European Paediatric Rheumatology Congress (PReS 2020) - Late Breaking Abstracts

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Use of PROMIS® to screen for depression in children with arthritis

Children with JIA may experience difficulty with health related quality of life (HRQOL). The Patient Reported Outcomes Measurement Information System (PROMIS) a patient related outcome (PRO) measure, covers HR...

Authors: Yufan Yan, Karen L. Rychlik, Marc B. Rosenman and Michael L. Miller

Validation of novel patient-centred juvenile idiopathic arthritis-specific patient-reported outcome and experience measures (PROMs/PREMs)

Measuring the outcomes that matter to children and young people (CYP) with juvenile idiopathic arthritis (JIA), is a necessary precursor to patient-centred improvements in quality of clinical care. We present ...

Authors: Laura E. Lunt, Stephanie Shoop-Worrall, Nicola Smith, Gavin Cleary, Janet McDonagh, Andrew D. Smith, Wendy Thomson and Flora McErlane

Atrial thrombus as a complication of SLE and APS in an 8-year-old child

Systemic lupus erythematosus (SLE) is an autoimmune disease involving multiple systems with various clinical manifestations. Renal involvement is common, but intracardiac thrombus is rarely reported as a compl...

Authors: Hai-bo Yan and Yu-mei Li

Juvenile idiopathic arthritis fibroblast-like synoviocytes influence chondrocytes to alter BMP antagonist expression demonstrating an interaction between the two prominent cell types involved in endochondral bone formation

To examine critical interactions between juvenile idiopathic arthritis synovial fibroblasts (JFLS) and chondrocytes (Ch), and their role in bony overgrowth seen in patients with juvenile idiopathic arthritis (...

Authors: Megan M. Simonds, Amanda R. Schlefman, Suzanne M. McCahan, Kathleen E. Sullivan, Carlos D. Rose and AnneMarie C. Brescia

Longitudinal assessment of racial disparities in juvenile idiopathic arthritis disease activity in a treat-to-target intervention

We sought to evaluate racial disparities in disease outcomes among children with polyarticular juvenile idiopathic arthritis (JIA) during a treat-to-target (TTT) intervention with clinical decision support (CDS).

Authors: Joyce C. Chang, Rui Xiao, Jon M. Burnham and Pamela F. Weiss

Safety and immunogenicity of the quadrivalent human papillomavirus vaccine in patients with juvenile dermatomyositis: a real-world multicentre study

Concerns about the safety and efficacy of vaccines in patients with autoimmune diseases (AID) have led to contradictions and low vaccination coverage in this population, who are at a higher risk of infections,...

Authors: Ingrid Herta Rotstein Grein, Natalia Balera Ferreira Pinto, Noortje Groot, Camila Bertini Martins, Aline Lobo, Nadia Emi Aikawa, Cassia Barbosa, Maria Teresa Terreri, Aline Coelho Moreira da Fraga, Sheila Knupp Feitosa de Oliveira, Flavio Sztajnbok, Luciana B. Paim Marques, Aline Garcia Islabão, Simone Appenzeller, Blanca Bica, Juliana de Oliveira Sato…

Onset age is a risk factor for refractory pediatric IgA vasculitis: a retrospective cohort study

Though outcome differences between children and adults with immunoglobulin A vasculitis (IgAV) has been well documented, it remains unclear if disease features in pediatric IgAV patients vary with onset age. W...

Authors: Chun-Hua Liao, Melody Tsai, Yao-Hsu Yang, Bor-Luen Chiang and Li-Chieh Wang

Telemedicine in pediatric rheumatology: this is the time for the community to embrace a new way of clinical practice

The use of telemedicine in pediatric rheumatology has been historically low. The current COVID 19 global pandemic has forced a paradigm shift with many centers rapidly adopting virtual visits to conduct care r...

Authors: Susan Shenoi, Kristen Hayward, Megan L. Curran, Elizabeth Kessler, Jay J. Mehta, Meredith P. Riebschleger and Helen E. Foster

The characteristics of video capsule endoscopy in pediatric Henoch–Schönlein purpura with gastrointestinal symptoms

Henoch–Schönlein purpura (HSP) is a systemic small-vessel vasculitis also named IgA vasculitis that commonly affects the gastrointestinal tract. The video capsule endoscopy (VCE) characteristics of pediatric H...

Authors: Youhong Fang, Kerong Peng, Hong Zhao and Jie Chen

Proceedings of the 26th European Paediatric Rheumatology Congress: part 1

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Proceedings of the 26th European Paediatric Rheumatology Congress: part 2

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Joint injection practice variations in pediatric rheumatology – a global survey and call for action

Intraarticular injections (IAI) were first reported in adult rheumatology in the 1950s and subsequently gained acceptance as a safe and efficacious treatment in Juvenile idiopathic arthritis (JIA). IAIs are no...

Authors: Anita Dhanrajani and Raju P. Khubchandani

Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares

Heme oxygenase-1 (HMOX1) catalyzes the metabolism of heme into carbon monoxide, ferrous iron, and biliverdin. Through biliverdin reductase, biliverdin becomes bilirubin. HMOX1-deficiency is a rare autosomal reces...

Authors: Alice S. Chau, Bonnie L. Cole, Jason S. Debley, Kabita Nanda, Aaron B. I. Rosen, Michael J. Bamshad, Deborah A. Nickerson, Troy R. Torgerson and Eric J. Allenspach

Determinants of disease activity change over time in Enthesitis related arthritis: effect of structured outcome monitoring and clinical decision support

We aimed to test if standardized point-of-care outcome monitoring and clinical decision support (CDS), as compared to standard care, improves disease activity and patient-reported pain in children with enthesi...

Authors: Francesca Tirelli, Rui Xiao, Timothy G. Brandon, Jon M. Burnham, Joyce C. Chang and Pamela F. Weiss

Glitches in the utilization of telehealth in pediatric rheumatology patients during the COVID-19 pandemic

Telehealth is an extraordinary advancement of modern medicine. It has increased access to care for underserved populations and, in the case of pediatric rheumatology, has expanded the reach of a limited work f...

Authors: Nayimisha Balmuri and Karen B. Onel

The spectrum of pediatric amplified musculoskeletal pain syndrome

Children presenting with musculoskeletal pain to pediatric rheumatology clinics are very heterogeneous and on a continuum from those with localized pain to total body pain. Many report intermittent, rather tha...

Authors: David D. Sherry, Maitry Sonagra and Sabrina Gmuca

Functional benefits of corticosteroid and IVIG combination therapy in a coronary artery endothelial cell model of Kawasaki disease

Kawasaki disease (KD) is the most common pediatric systemic vasculitides of unknown etiology. Recent clinical studies led to reappraisal of the usefulness of initial combination therapy of intravenous immunogl...

Authors: Takashi Inoue, Shokei Murakami, Kenji Matsumoto and Akio Matsuda

Efficacy and safety of intraarticular corticosteroid injections in adolescents with juvenile idiopathic arthritis in the temporomandibular joint: a Norwegian 2-year prospective multicenter pilot study

Intraarticular corticosteroids (IACs) have been used to treat temporomandibular joint (TMJ) arthritis. However, prospective clinical studies with magnetic resonance imaging (MRI) scoring are lacking. The aim o...

Authors: Paula Frid, Thomas A. Augdal, Tore A. Larheim, Josefine Halbig, Veronika Rypdal, Nils Thomas Songstad, Annika Rosén, Karin B. Tylleskär, Johanna Rykke Berstad, Berit Flatø, Peter Stoustrup, Karen Rosendahl, Eva Kirkhus and Ellen Nordal

Bacterial infections in a pediatric cohort of primary and acquired complement deficiencies

Acquired complement deficiency can occur in the setting of autoimmune syndromes, such as systemic lupus erythematosus (SLE), with very low or, occasionally, undetectable C3 levels. Based on inherited complemen...

Authors: Taha Al-Shaikhly, Kristen Hayward, Matthew L. Basiaga and Eric J. Allenspach

Utility of the EULAR Sjögren syndrome disease activity index in Japanese children: a retrospective multicenter cohort study

The European League Against Rheumatism (EULAR) Sjögren Syndrome Disease Activity Index (ESSDAI) has been utilized to assess Sjögren syndrome-related systemic involvement in adult patients. To date, however, th...

Authors: Naomi Iwata, Minako Tomiita, Ichiro Kobayashi, Yusaburo Inoue, Yukiko Nonaka, Nami Okamoto, Hiroaki Umebayashi, Ryoki Hara, Yasuhiko Ito, Yasunori Sato and Masaaki Mori

A case of Myhre syndrome mimicking juvenile scleroderma

Myhre syndrome is a genetic disorder caused by gain of function mutations in the SMAD Family Member 4 (SMAD4) gene, resulting in progressive, proliferative skin and organ fibrosis. Skin thickening and joint contr...

Authors: Barbara Jensen, Rebecca James, Ying Hong, Ebun Omoyinmi, Clarissa Pilkington, Neil J. Sebire, Kevin J. Howell, Paul A. Brogan and Despina Eleftheriou

Establishing an international awareness day for paediatric rheumatic diseases: reflections from the inaugural World Young Rheumatic Diseases (WORD) Day 2019

There is a lack of awareness of paediatric rheumatic diseases (PRDs), among the public, and certain groups of healthcare professionals (HCPs), including general practitioners. To help improve international awa...

Authors: Eve M. D. Smith, Sammy Ainsworth, Michael W. Beresford, Veerle Buys, Wendy Costello, Yona Egert, Helen E. Foster, Lovro Lamot, Berent J. Prakken, Christiaan Scott and Simon R. Stones

Juvenile Spondyloarthritis: focus on uveitis

Juvenile spondyloarthritis (JSpA) represents a group of inflammatory arthritides with several distinctive features (enthesitis, involvement of spine and sacroiliac joint, HLA-B27 association and development of...

Authors: Achille Marino, Pamela F. Weiss, Timothy G. Brandon and Melissa A. Lerman

Coexistence of a novel WISP3 pathogenic variant and an MEFV mutation in an Arabic family with progressive pseudorheumatoid dysplasia mimicking polyarticular juvenile idiopathic arthritis

A spectrum of rare noninflammatory disorders may present with arthropathy that arises from bony dysplasia, a thickened synovium, and noninflammatory effusion, leading to a constellation of clinical features th...

Authors: Basil M. Fathalla, Elham Ahmed Elgabaly and Ahmad Abou Tayoun

Prosthetic temporomandibular joint reconstruction in a cohort of adolescent females with juvenile idiopathic arthritis

Temporomandibular joint (TMJ) arthritis and involvement is commonly seen in Juvenile Idiopathic Arthritis (JIA). Therapy includes conservative measures, but also includes intraarticular corticosteroid injectio...

Authors: Michael Lypka, Karina Shah and Jordan Jones

A case report of a novel compound heterozygous mutation in a Brazilian patient with deficiency of Interleukin-1 receptor antagonist (DIRA)

Deficiency of the natural antagonist of interleukin-1 was first described in 2009 and so far 20 patients has been reported. In Brazil just two cases have been reported both carrying the same homozygous 15 bp d...

Authors: Leonardo Oliveira Mendonça, Alice Grossi, Francesco Caroli, Robson Aguiar de Oliveira, Jorge Kalil, Fabio Fernandes Morato Castro, Alessandra Pontillo, Isabella Ceccherini, Myrthes Anna Maragna Toledo Barros and Marco Gattorno

Reproductive health needs of adolescent and young adult women with pediatric rheumatic diseases

The purpose of this study was to identify reproductive health knowledge gaps and topics that concern adolescent and young adult (AYA) women with pediatric rheumatic diseases and their parents.

Authors: Kristine Carandang, Veronica Mruk, Stacy P. Ardoin, Brittany Huynh, Megan E. B. Clowse, Elise D. Berlan and Cuoghi Edens

Kawasaki disease with a concomitant primary Epstein - Barr virus infection

Kwasaki disease (KD) is the leading cause of acquired heart disease in children in most developed countries. The cause of KD remains unknown. The presumed theory is that KD occurs due to one or more infectious...

Authors: Nataly Rosenfeld, Diana Tasher, Adi Ovadia, Shirly Abiri and Ilan Dalal

Prefilled pen versus prefilled syringe: a pilot study evaluating two different methods of methotrexate subcutaneous injection in patients with JIA

Methotrexate is the most commonly used disease-modifying antirheumatic drug recommended in the treatment of juvenile idiopathic arthritis. It can be administered orally or subcutaneously, the latter method is ...

Authors: Justyna Roszkiewicz, Zbigniew Swacha and Elżbieta Smolewska

Recurrent synovitis of hip and MEFV gene related arthritis in children

Recurrent and relapsing arthritis has been proposed to describe a group of arthritis with recurring and periodic nature, in which the joints are intermittently involved.

Authors: Farhad Salehzadeh and Mehrdad Mirzarahimi

A familial case of Kikuchi-Fujimoto disease in dizygotic twins

Kikuchi-Fujimoto disease (KFD) or necrotizing histiocytic lymphadenitis, was described separately by both Kikuchi and Fujimoto in Japan in the early 1970’s. Despite its rarity in the pediatric population, it i...

Authors: Ashfaque Quadir, Ken Peacock, Peter Hsu, Davinder Singh-Grewal and Stephen Alexander

Proceedings from the 2^nd Next Gen Therapies for Systemic Juvenile Idiopathic Arthritis and Macrophage Activation Syndrome symposium held on October 3-4, 2019

For reasons poorly understood, and despite the availability of biological medications blocking IL-1 and IL-6 that have markedly improved overall disease control, children with Systemic Juvenile Idiopathic Arth...

Authors: Scott W. Canna, Grant S. Schulert, Adriana de Jesus, Alex Pickering, Hermine Brunner, Massimo Gadina, Stewart Levine, Raphaela Goldbach-Mansky, Jonathan Boutelle, Rashmi Sinha, Fabrizio DeBenedetti and Alexei Grom

Neurological involvement in Kawasaki disease: a retrospective study

Kawasaki disease (KD) is an acute, self-limiting systemic vasculitis that predominately affects children. Neurological involvement is a known complication of KD, however, its association with KD severity remai...

Authors: Xiaoliang Liu, Kaiyu Zhou, Yimin Hua, Mei Wu, Lei Liu, Shuran Shao and Chuan Wang

The paediatric global musculoskeletal task force - ‘towards better MSK health for all’

There is increasing concern about the emerging global non-communicable diseases (NCDs) burden. The focus has mainly been on NCDs in adults but it is important that MSK morbidity in both children and adults is ...

Authors: Helen E. Foster, Christiaan Scott, Carl J. Tiderius and Matthew B. Dobbs

Subclinical cardiovascular risk signs in adults with juvenile idiopathic arthritis in sustained remission

Juvenile Idiopathic Arthritis (JIA) is one of the most common chronic diseases of childhood that often persists into adulthood and can result in significant long-term morbidity. As a long lasting chronic infla...

Authors: Inmaculada Concepción Aranda-Valera, Iván Arias de la Rosa, Rosa Roldán-Molina, María del Carmen Ábalos-Aguilera, Carmen Torres-Granados, Alejandra Patiño-Trives, María Luque-Tevar, Alejandro Ibáñez-Costa, Rocío Guzmán-Ruiz, María del Mar Malagón, Alejandro Escudero-Contreras, Chary López-Pedrera, Eduardo Collantes-Estévez and Nuria Barbarroja

Leukoencephalopathy and cerebral edema as the presenting manifestations of SLE in an ANA-negative adolescent female: a case report and review of literature

Systemic lupus erythematosus (SLE) is an autoimmune disease with various clinical manifestations involving multiple organ systems. Neuropsychiatric manifestations of SLE have been associated with increased mor...

Authors: Alexandra Theisen, Paroma Bose, Christina Knight and Melissa Oliver

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

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 ...

Authors: Anna Nicek, Nasreen Talib, Daniel Lovell, Chelsey Smith, Mara L. Becker and Jordan T. Jones

Successful treatment of refractory hyperferritinemic syndromes with canakinumab: a report of two cases

Hyperferritinemic syndromes are systemic inflammatory disorders characterized by a dysfunctional immune response, which leads to excessive activation of the monocyte-macrophage system with hypercytokinemia and...

Authors: Riccardo Papa, Valentina Natoli, Roberta Caorsi, Francesca Minoia, Marco Gattorno and Angelo Ravelli

High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO)

FBLIM1 gene has been recently demonstrated to be involved in the pathogenesis of bone sterile inflammation. The aim of the study is to evaluate the prevalence of FBLIM1 gene variants in a cohort of 80 Italian pat...

Authors: Adamo Pio d’Adamo, Anna Monica Bianco, Giovanna Ferrara, Martina La Bianca, Antonella Insalaco, Alberto Tommasini, Manuela Pardeo, Marco Cattalini, Francesco La Torre, Martina Finetti, Clotilde Alizzi, Gabriele Simonini, Virginia Messia, Serena Pastore, Rolando Cimaz, Marco Gattorno…

Adenosine deaminase 2 activity negatively correlates with age during childhood

Human adenosine deaminase 2 (ADA2) is an extracellular enzyme that negatively regulates adenosine-mediated cell signaling by converting adenosine to inosine. Altered ADA2 enzyme activity has been associated wi...

Authors: Sarah M. Bowers, Kristen M. Gibson, David A. Cabral and Kelly L. Brown

Image guided sacroiliac joint corticosteroid injections in children: an 18-year single-center retrospective study

Sacroiliitis is commonly seen in enthesitis-related arthritis (ERA), a subtype of juvenile idiopathic arthritis (JIA). Sacroiliitis is characterized by the inflammation of the sacroiliac (SI) joints (+/− adjac...

Authors: Racha Chamlati, Bairbre Connolly, Ronald Laxer, Jennifer Stimec, Jyoti Panwar, Shirley Tse, Prakash Muthusami, Joao Amaral, Michael Temple and Dimitri A. Parra

Failure of anti Interleukin-1 β monoclonal antibody in the treatment of recurrent pericarditis in two children

Recurrent pericarditis (RP) is a complication (15–30%) of acute pericarditis with an unknown etiology. Treatment regimen consists of a combination of non-steroidal anti-inflammatory drugs (NSAIDs) and colchici...

Authors: Sara Signa, Matteo D’Alessandro, Rita Consolini, Angela Miniaci, Marta Bustaffa, Chiara Longo, Maria A. Tosca, Martina Bizzi, Roberta Caorsi, Leonardo Oliveira Mendonça, Andrea Pession, Angelo Ravelli and Marco Gattorno