Articles

Whole exome sequencing approach to childhood onset familial erythrodermic psoriasis unravels a novel mutation of CARD14 requiring unusual high doses of ustekinumab

Autosomal dominant gain of function mutations in caspase recruitment domain family member 14 (CARD14) is a rare condition associated with plaque-type psoriasis, generalized pustular psoriasis, palmoplantar pus...

Authors: S. Signa, E. Campione, M. Rusmini, S. Chiesa, A. Grossi, A. Omenetti, R. Caorsi, G. M. Viglizzo, M. Galluzzo, L. Bianchi, M. Talamonti, A. Orlandi, A. Martini, I. Ceccherini and M. Gattorno

Scoping review of biological treatment of deficiency of interleukin-36 receptor antagonist (DITRA) in children and adolescents

Deficiency of interleukin-36 receptor antagonist (DITRA) is a life threatening monogenic autoinflammatory disease caused by loss of function mutations in the IL36RN gene. Affected patients develop recurrent episo...

Authors: Toni Hospach, Fabian Glowatzki, Friederike Blankenburg, Dennis Conzelmann, Christian Stirnkorb, Chris Sandra Müllerschön, Peter von den Driesch, Lisa Maria Köhler, Meino Rohlfs, Christoph Klein and Fabian Hauck

Retrospective case series describing the efficacy, safety and cost-effectiveness of a vial-sharing programme for canakinumab treatment for paediatric patients with cryopyrin-associated periodic syndrome

Cryopyrin-associated periodic syndrome (CAPS) is a rare autoinflammatory disease, caused by gain of function mutation in NLRP3 resulting in excess production of interleukin-1 (IL-1). Canakinumab is a human monocl...

Authors: Abdulkadir A. Elmi, Karen Wynne, Iek L. Cheng, Despina Eleftheriou, Helen J. Lachmann, Philip N. Hawkins and Paul Brogan

Efficacy of pamidronate in children with chronic non-bacterial osteitis using whole body MRI as a marker of disease activity

To study the response to pamidronate using whole body magnetic resonance imaging (WB-MRI) in children with chronic non-bacterial osteitis (CNO) in a tertiary health centre.

Authors: C. S. Bhat, M. Roderick, E. S. Sen, A. Finn and A. V. Ramanan

A low-frequency IL4R locus variant in Japanese patients with intravenous immunoglobulin therapy-unresponsive Kawasaki disease

Kawasaki disease (KD) is a systemic vasculitis which may be associated with coronary artery aneurysms. A notable risk factor for the development of coronary artery aneurysms is resistance to intravenous immuno...

Authors: Yuji Amano, Yohei Akazawa, Jun Yasuda, Kazuhisa Yoshino, Katsuhiko Kojima, Norimoto Kobayashi, Satoshi Matsuzaki, Masao Nagasaki, Yosuke Kawai, Naoko Minegishi, Noriko Ishida, Noriko Motoki, Akira Hachiya, Yozo Nakazawa, Masayuki Yamamoto, Kenichi Koike…

Heavy metals in fish and its association with autoimmunity in the development of juvenile idiopathic arthritis: a prospective birth cohort study

The etiology of Juvenile Idiopathic Arthritis (JIA) is poorly understood. The purpose of this study was to examine the possible influence of early nutrition on later development of JIA.

Authors: Erik Kindgren, Carlos Guerrero-Bosagna and Johnny Ludvigsson

Research priorities in childhood-onset lupus: results of a multidisciplinary prioritization exercise

Childhood-onset systemic erythematosus lupus (cSLE) is characterized by more severe disease, widespread organ involvement and higher mortality compared to adult-onset SLE. However, cSLE is largely underfunded ...

Authors: Stacy P. Ardoin, R Paola Daly, Lyna Merzoug, Karin Tse, Kaveh Ardalan, Lisa Arkin, Andrea Knight, Tamar Rubinstein, Natasha Ruth, Scott E. Wenderfer and Aimee O. Hersh

Hallmark trials in ANCA-associated vasculitis (AAV) for the pediatric rheumatologist

Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) refers to a complex group of systemic vasculitides that are characterized by primary small-to-medium sized blood vessel inflammation with...

Authors: Jennifer J. Y. Lee, Alhanouf Alsaleem, Grace P. K. Chiang, Elizaveta Limenis, Watchareewan Sontichai, Rae S. M. Yeung, Jonathan Akikusa and Ronald M. Laxer

Being on the juvenile dermatomyositis rollercoaster: a qualitative study

Juvenile Dermatomyositis is a rare, potentially life-threatening condition with no known cure. There is no published literature capturing how children and young people feel about their condition, from their pe...

Authors: Polly Livermore, Suzanne Gray, Kathleen Mulligan, Jennifer N. Stinson, Lucy R. Wedderburn and Faith Gibson

Early administration of adalimumab for paediatric uveitis due to Behçet’s disease

Behçet’s disease is a chronic inflammatory multisystem disorder that is characterised by oral and/or genital ulcerations as well as intraocular inflammation. Recurrent retinal vasoocclusive episodes and macula...

Authors: Tomona Hiyama, Yosuke Harada, Takehiko Doi and Yoshiaki Kiuchi

Relapsing periodic arthritis, palindromic rheumatism and MEFV gene-related variants alleles in children

Relapsing periodic arthritis is a general term used for a group of diseases with recurring and periodic nature, in which the joints are intermittently involved. The aim of this study is to evaluation of the po...

Authors: Farhad Salehzadeh, Manuchehr Barak and Roghayeh Nematdoust Haghi

Efficacy and safety of duloxetine versus placebo in adolescents with juvenile fibromyalgia: results from a randomized controlled trial

Currently, there are no medications approved for the treatment of juvenile fibromyalgia (JFM). We evaluated the safety and efficacy of duloxetine 30/60 mg once daily (QD) versus placebo in adolescents with JFM.

Authors: Himanshu P. Upadhyaya, Lesley M. Arnold, Karla Alaka, Meihua Qiao, David Williams and Renata Mehta

A delayed diagnosis of eosinophilic granulomatosis with polyangiitis complicated with extensive artery occlusion of lower extremities in children: case report and literature review

Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare systemic vasculitis in children. A delayed or missed diagnosis of pediatric EGPA is common, owing to the atypical clinical manifestation and limit...

Authors: Xiaoliang Liu, Lin Wang, Kaiyu Zhou, Yimin Hua, Xiaoqing Shi and Chuan Wang

An unusual presentation of purine nucleoside phosphorylase deficiency mimicking systemic juvenile idiopathic arthritis complicated by macrophage activation syndrome

Systemic juvenile idiopathic arthritis (sJIA) is an inflammatory condition that presents with fever, rash and arthritis. At onset systemic features are predominant and the diagnosis may be a challenge. Seconda...

Authors: Alessia Arduini, Emiliano Marasco, Giulia Marucci, Manuela Pardeo, Antonella Insalaco, Ivan Caiello, Gian Marco Moneta, Giusi Prencipe, Fabrizio De Benedetti and Claudia Bracaglia

The PRINTO evidence-based proposal for glucocorticoids tapering/discontinuation in new onset juvenile dermatomyositis patients

Prednisone (PDN) in juvenile dermatomyositis (JDM), alone or in association with other immunosuppressive drugs, namely methotrexate (MTX) and cyclosporine (CSA), represents the first-line treatment option for ...

Authors: Gabriella Giancane, Claudio Lavarello, Angela Pistorio, Sheila K. Oliveira, Francesco Zulian, Ruben Cuttica, Michel Fischbach, Bo Magnusson, Serena Pastore, Roberto Marini, Silvana Martino, Anne Pagnier, Christine Soler, Valda Staņēvicha, Rebecca Ten Cate, Yosef Uziel…

Development of a benchmarking toolkit for adolescent and young adult rheumatology services (BeTAR)

Young people (YP; 12–24 years old) with rheumatic diseases face many challenges associated with chronic illness in addition to the physiological and psychosocial changes of adolescence. Timely access to develo...

Authors: Ran A. Cai, Hema Chaplin, Polly Livermore, Martin Lee, Debajit Sen, Lucy R. Wedderburn, Nick Wilkinson, Rachel Jeffery, Andrea Kempa, Imogen Norton, Rachel Tattersall, Yiannis Ioannou and Despina Eleftheriou

10th Congress of International Society of Systemic Auto-Inflammatory Diseases (ISSAID)

Authors:

Periodic fever syndromes: beyond the single gene paradigm

Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease in Canada and is characterized by a clinical syndrome of episodic inflammatory symptoms. Traditionally, the disease is d...

Authors: Clara Westwell-Roper, Iwona Niemietz, Lori B. Tucker and Kelly L. Brown

Patient-proxy agreement on health-related quality of life in juvenile fibromyalgia syndrome

Health-related quality of life (HRQoL) measures serve as important indicators of pain-related physical and psychosocial function in youth with juvenile fibromyalgia syndrome (JFMS). While the administration of...

Authors: Sabrina Gmuca, Rui Xiao and David D. Sherry

Seeking the state of the art in standardized measurement of health care resource use and costs in juvenile idiopathic arthritis: a scoping review

This study aims to describe current practice in identifying and measuring health care resource use and unit costs in economic evaluations or costing studies of juvenile idiopathic arthritis (JIA).

Authors: Michelle M. A. Kip, Gillian Currie, Deborah A. Marshall, Luiza Grazziotin Lago, Marinka Twilt, Sebastiaan J. Vastert, Joost F. Swart, Nico Wulffraat, Rae S. M. Yeung, Susanne M. Benseler and Maarten J. IJzerman

Disease course and treatment effects of a JAK inhibitor in a patient with CANDLE syndrome

CANDLE syndrome (an acronym for Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature) is a recently described rare autosomal recessive disorder charaterized by systemic autoinfl...

Authors: M. Boyadzhiev, L. Marinov, V. Boyadzhiev, V. Iotova, I. Aksentijevich and S. Hambleton

Intravenous abatacept in Japanese patients with polyarticular-course juvenile idiopathic arthritis: results from a phase III open-label study

To investigate efficacy and safety of intravenous abatacept in Japanese patients with active polyarticular-course juvenile idiopathic arthritis (pJIA).

Authors: Ryoki Hara, Hiroaki Umebayashi, Syuji Takei, Nami Okamoto, Naomi Iwata, Yuichi Yamasaki, Yasuo Nakagishi, Toshitaka Kizawa, Ichiro Kobayashi, Tomoyuki Imagawa, Noriko Kinjo, Norihito Amano, Yoko Takahashi, Masaaki Mori, Yasuhiko Itoh and Shumpei Yokota

A qualitative study examining the validity and comprehensibility of physical activity items: developed and tested in children with juvenile idiopathic arthritis

Not all physical activity (PA) questionnaires (PAQ) gather information regarding PA intensity, duration, and modes and only a few were developed specifically for children. We assessed children’s comprehensibil...

Authors: August Flodén, Eva W. Broström, Johan von Heideken, Sara Rostlund, Rikard Nilsson, Kristina Löwing and Maura D. Iversen

Clinical features and characteristics of uveitis associated with juvenile idiopathic arthritis in Japan: first report of the pediatric rheumatology association of Japan (PRAJ)

Although there are many reports on Juvenile Idiopathic arthritis-associated uveitis (JIA-U) from various countries, especially from Europe and North America, there are few reports from Asia. Our aim was to inv...

Authors: Junko Yasumura, Masato Yashiro, Nami Okamoto, Kosuke Shabana, Hiroaki Umebayashi, Naomi Iwata, Yuka Okura, Tomohiro Kubota, Masaki Shimizu, Minako Tomiita, Yasuo Nakagishi, Kenichi Nishimura, Ryoki Hara, Mao Mizuta, Takahiro Yasumi, Fumiya Yamaide…

Measurement properties and performance of an eight-minute submaximal treadmill test in patients with juvenile idiopathic arthritis: a controlled study

Poor cardiorespiratory fitness is previously reported in patients with juvenile idiopathic arthritis (JIA) measured both by maximal and submaximal exercise tests, but a submaximal exercise test with acceptable...

Authors: Kristine Risum, Elisabeth Edvardsen, Anne M. Selvaag, Hanne Dagfinrud and Helga Sanner

Increase expression of CD177 in Kawasaki disease

Kawasaki disease (KD) is the most common acute coronary vasculitis disease to occur in children. Its incidence has been attributed to the combined effects of infection, genetics, and immunity. Although the eti...

Authors: Ying-Hsien Huang, Mao-Hung Lo, Xin-Yuan Cai, Shih-Feng Liu and Ho-Chang Kuo

Screening of asymptomatic rheumatic heart disease among refugee/migrant children and youths in Italy

Rheumatic heart disease (RHD) is a chronic condition responsible of congestive heart failure, stroke and arrhythmia. Almost eradicated in high-income countries (HIC), it persists in low- and middle-income coun...

Authors: Fortunata Condemi, Gabriele Rossi, Miguel Lupiz, Antonio Pagano, Federica Zamatto, Stefano Marini, Francesco Romeo and Gianfranco De Maio

Efficacy and cost savings with the use of a minimal sedation / anxiolysis protocol for intra-articular corticosteroid injections in children with juvenile idiopathic arthritis: a retrospective review of prospectively collected data

Intra-articular corticosteroid injections (IACI) are frequently used in the treatment of juvenile idiopathic arthritis. There is a paucity of evidence-based research describing methods of pain and anxiety cont...

Authors: Rotem Elitsur, April Hollenbeck, Laura Tasan, Kathryn S. Torok, Elaine Cassidy, Brian Blasiole, Erika Parsons, Chelsea Acock, Joseph Angelelli and Isabela-Cajiao Angelelli

Different histological classifications for Henoch-Schönlein purpura nephritis: which one should be used?

Nephritis is the most important chronic complication of IgA Vasculitis (IgAV)/Henoch-Schönlein purpura (IGAV/HSP) and thus the main prognostic factor of this most common childhood vasculitis. Since the prognos...

Authors: Marija Jelusic, Mario Sestan, Rolando Cimaz and Seza Ozen

Development and pilot testing of the treatment and education approach for childhood-onset lupus (TEACH): a cognitive behavioral treatment

To develop and test the feasibility and initial effectiveness of the Treatment and Education Approach for Childhood-onset Lupus (TEACH) protocol, a 6-session cognitive behavioral therapy (CBT) intervention for...

Authors: Natoshia R. Cunningham, Lauren M. Fussner, Erin Moorman, Pinar O. Avar Aydin, Hermine I. Brunner and Susmita Kashikar-Zuck

Pediatric anti-NMDA receptor encephalitis with catatonia: treatment with electroconvulsive therapy

Anti-NMDA receptor encephalitis, an autoimmune disease associated with antibodies against N-methyl-D-aspartate (NMDA) receptors, is being diagnosed more frequently, especially in children and young adults. Acu...

Authors: Taha Moussa, Khalid Afzal, Joseph Cooper, Ryan Rosenberger, Karyn Gerstle and Linda Wagner-Weiner

Calm in the midst of cytokine storm: a collaborative approach to the diagnosis and treatment of hemophagocytic lymphohistiocytosis and macrophage activation syndrome

Hemophagocytic lymphohistiocytosis (HLH) and macrophage activation syndrome (MAS) were historically thought to be distinct entities, often managed in isolation. In fact, these conditions are closely related. A...

Authors: Olha Halyabar, Margaret H. Chang, Michelle L. Schoettler, Marc A. Schwartz, Ezgi H. Baris, Leslie A. Benson, Catherine M. Biggs, Mark Gorman, Leslie Lehmann, Mindy S. Lo, Peter A. Nigrovic, Craig D. Platt, Gregory P. Priebe, Jared Rowe, Robert P. Sundel, Neeraj K. Surana…

Participation in school sports among children and adolescents with juvenile idiopathic arthritis in the German National Paediatric Rheumatologic Database, 2000–2015: results from a prospective observational cohort study

Regular school sports can help adolescents achieve the recommended amount of daily physical activity and provide knowledge, attitudes and behavioral skills that are needed in order to adopt and maintain a phys...

Authors: Florian Milatz, Jens Klotsche, Martina Niewerth, Nils Geisemeyer, Ralf Trauzeddel, Elisabeth Weißbarth-Riedel, Tilmann Kallinich, Joachim Peitz, Matthias Hartmann and Kirsten Minden

The pediatric rheumatology objective structured clinical examination: progressing from a homegrown effort toward a reliable and valid national formative assessment

Of 37 pediatric rheumatology fellowship training programs in the United States, many have three or fewer fellows at a given time, making large-scale assessment of fellow performance difficult. An objective str...

Authors: Megan L. Curran, Emma E. Martin, Erin C. Thomas, Rashmi Singh, Saima Armana, Asnia Kauser, Eesha A. Zaheer and David D. Sherry

The effects of TNF-alpha inhibitor therapy on the incidence of infection in JIA children: a meta-analysis

Juvenile Idiopathic arthritis (JIA) is the most common chronic rheumatic disease in childhood. The diagnosis is based on the underlying symptoms of arthritis with an exclusion of other diseases Biologic agents...

Authors: Arnold Nagy, Péter Mátrai, Péter Hegyi, Hussain Alizadeh, Judit Bajor, László Czopf, Zoltán Gyöngyi, Zoltán Kiss, Katalin Márta, Mária Simon, Ágnes Lilla Szilágyi, Gábor Veres and Bernadett Mosdósi

Coronary artery dilation associated with anti-synthetase syndrome in an adolescent

Idiopathic inflammatory myopathies (IIM) are a group of systemic autoimmune disorders primarily affecting skeletal muscle. Pediatric coronary artery dilation is frequently discussed in Kawasaki disease. Howeve...

Authors: Karim Asi, Anand Gourishankar and Ankur Kamdar

The effectiveness of a multidisciplinary intervention strategy for the treatment of symptomatic joint hypermobility in childhood: a randomised, single Centre parallel group trial (The Bendy Study)

Joint hypermobility is common in childhood and can be associated with musculoskeletal pain and dysfunction. Current management is delivered by a multidisciplinary team, but evidence of effectiveness is limited...

Authors: Peter Bale, Vicky Easton, Holly Bacon, Emma Jerman, Laura Watts, Garry Barton, Allan Clark, Kate Armon and Alex J. MacGregor

Kawasaki disease shock syndrome: clinical characteristics and possible use of IL-6, IL-10 and IFN-γ as biomarkers for early recognition

As an acute febrile and inflammatory disease, Kawasaki disease (KD) could develop Kawasaki disease shock syndrome (KDSS) sometimes. However its pathogenesis was still not well known. This study was to learn mo...

Authors: Yandie Li, Qi Zheng, Lixia Zou, Jianqiang Wu, Li Guo, Liping Teng, Rongjun Zheng, Lawrence Kwok Leung Jung and Meiping Lu

Arterial properties in adults with long-lasting active juvenile idiopathic arthritis compared to healthy controls

The data on cardiovascular risk and systemic arterial properties in patients with long-lasting juvenile idiopathic arthritis (JIA) is limited. The objective of this study was to describe systemic arterial prop...

Authors: Hanne Aaserud Aulie, Mette-Elise Estensen, Anne Marit Selvaag, Vibke Lilleby, Berit Flatø and Svend Aakhus

Clinical phenotypes and biologic treatment use in juvenile dermatomyositis-associated calcinosis

Few risk factors have been identified for the development of calcinosis among patients with Juvenile Dermatomyositis, and currently no clinical phenotype has been associated with its development. We analyzed a...

Authors: Amir B. Orandi, Vikas R. Dharnidharka, Noor Al-Hammadi and Kevin W. Baszis

Coronary artery status of patients with transient fever 24–36 h after first IVIG infusion did not differ from that seen in responsive patients

Current management guidelines for patients with Kawasaki disease (KD) differ in their recommendations for fever observation times when determining resistance to initial intravenous immunoglobulin (IVIG). This ...

Authors: Jae Suk Baek, Jeong Jin Yu, Mi Jin Kim, Jihye You, Hyun Ok Jun, Young-Hwue Kim and Jae-Kon Ko

Body composition and phase angle as an indicator of nutritional status in children with juvenile idiopathic arthritis

Juvenile idiopathic arthritis (JIA) is the most common chronic, systemic autoimmune connective tissue disease diagnosed in children and adolescents. An important aspect of monitoring of children with JIA is a ...

Authors: Paweł Więch, Izabela Sałacińska, Dariusz Bazaliński and Mariusz Dąbrowski

Living with autoinflammatory diseases: identifying unmet needs of children, adolescents and adults

Autoinflammatory diseases (AIDs) illnesses of the innate immunity resulting in clinical signs and symptoms of systemic inflammation and loss of organ functions. While pathophysiological mechanisms are heavily ...

Authors: Gabriele Erbis, Kirstin Schmidt, Sandra Hansmann, Tetiana Sergiichuk, Christine Michler, Jasmin B. Kuemmerle-Deschner and Susanne M. Benseler

Multi-centre national audit of juvenile localised scleroderma: describing current UK practice in disease assessment and management

To describe current United Kingdom practice in assessment and management of patients with juvenile localised scleroderma (JLS) compared to Paediatric Rheumatology European Society (PRES) scleroderma working pa...

Authors: Hanna Lythgoe, Beverley Almeida, Joshua Bennett, Chandrika Bhat, Amarpal Bilkhu, Mary Brennan, Samundeeswari Deepak, Pamela Dawson, Despina Eleftheriou, Kathryn Harrison, Daniel Hawley, Eleanor Heaf, Valentina Leone, Ema Long, Sarah Maltby, Flora McErlane…

Off-label use of tocilizumab to treat non-juvenile idiopathic arthritis in pediatric rheumatic patients: a literature review

Tocilizumab, an anti-interleukin-6 (IL-6) agent, is indicated as a treatment for several autoimmune or inflammatory diseases, including rheumatoid arthritis and juvenile idiopathic arthritis (JIA). IL-6 plays ...

Authors: Ju-Yang Jung, Moon-Young Kim, Chang-Hee Suh and Hyoun-Ah Kim

Disease burden and social impact of pediatric chronic nonbacterial osteomyelitis from the patient and family perspective

Chronic nonbacterial osteomyelitis (CNO) is an autoinflammatory bone disorder that if left untreated can result in bone destruction and severe continuing pain due to persistent inflammation. The impact this ch...

Authors: Melissa Oliver, Tzielan C. Lee, Bonnie Halpern-Felsher, Elizabeth Murray, Rebecca Schwartz and Yongdong Zhao

Educational initiatives and training for paediatric rheumatology in Europe

The Paediatric Rheumatology European Society (PReS) has over many years, developed a portfolio of educational activities to address increasing educational needs of workforce and support young clinicians to acq...

Authors: Helen E. Foster, Jelena Vojinovic, Tamas Constantin, Alberto Martini, Pavla Dolezalova, Yosef Uziel, E.M.D Smith, Lovro Lamot, Carine Wouters, Tadej Avcin and Nico Wulffraat

Protective parents and permissive children: what qualitative interviews with parents and children can tell us about the feasibility of juvenile idiopathic arthritis trials

Patient recruitment can be very challenging in paediatric studies, especially in relatively uncommon conditions, such as juvenile idiopathic arthritis (JIA). However, involving children and young people (CYP) ...

Authors: Frances C. Sherratt, Louise Roper, Simon R. Stones, Flora McErlane, Matthew Peak, Michael W. Beresford, Helen Foster, Athimalaipet V. Ramanan, Madeleine Rooney, Eileen Baildam and Bridget Young

Feasibility of a musculoskeletal ultrasound intervention to improve adherence in juvenile idiopathic arthritis: a proof-of concept trial

Non-adherence is a prevalent and modifiable issue in juvenile idiopathic arthritis (JIA) that currently lacks provider-based intervention. Education surrounding disease status is one way in which families rema...

Authors: Leslie A. Favier, Tracy V. Ting and Avani C. Modi

Chronic non bacterial osteitis- a multicentre study

To understand the demographics, clinical features and treatment outcomes of Chronic Non-bacterial Osteitis (CNO) from three tertiary paediatric rheumatology services in the United Kingdom.

Authors: Chandrika S. Bhat, Catriona Anderson, Aoibhinn Harbinson, Liza J. McCann, Marion Roderick, Adam Finn, Joyce E. Davidson and Athimalaipet V. Ramanan