Articles

“Next generation sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease”

Authors: Afolake T. Arowolo, Henry A. Adeola and Nonhlanhla P. Khumalo

Dealing with Chronic Non-Bacterial Osteomyelitis: a practical approach

Chronic Non-Bacterial Osteomyelitis (CNO) is an inflammatory disorder that primarily affects children. Although underestimated, its incidence is rare. For these reasons, no diagnostic and no therapeutic guidel...

Authors: Andrea Taddio, Giovanna Ferrara, Antonella Insalaco, Manuela Pardeo, Massimo Gregori, Martina Finetti, Serena Pastore, Alberto Tommasini, Alessandro Ventura and Marco Gattorno

Pharmacokinetic and safety profile of tofacitinib in children with polyarticular course juvenile idiopathic arthritis: results of a phase 1, open-label, multicenter study

Juvenile idiopathic arthritis (JIA) is the most common pediatric rheumatic disease and a leading cause of childhood disability. The objective of this study was to characterize the PK, safety, and taste accepta...

Authors: Nicolino Ruperto, Hermine I. Brunner, Zbigniew Zuber, Nikolay Tzaribachev, Daniel J. Kingsbury, Ivan Foeldvari, Gerd Horneff, Elzbieta Smolewska, Richard K. Vehe, Anasuya Hazra, Rong Wang, Charles A. Mebus, Christine Alvey, Manisha Lamba, Sriram Krishnaswami, Thomas C. Stock…

Mental health care for youth with rheumatologic diseases – bridging the gap

Youth with rheumatologic diseases have a high prevalence of comorbid mental health disorders. Individuals with comorbid mental health disorders are at increased risk for adverse outcomes related to mental heal...

Authors: Alaina M. Davis, Tamar B. Rubinstein, Martha Rodriguez and Andrea M. Knight

A national cohort study on pediatric Behçet’s disease: cross-sectional data from an Italian registry

Behçet’s disease is a rare multi-systemic inflammatory disease with unknown etiology which involves principally oral and genital mucosa, skin and eyes. Average age at onset of the disease is about 25-30 years,...

Authors: Romina Gallizzi, Caterina Pidone, Luca Cantarini, Martina Finetti, Marco Cattalini, Giovanni Filocamo, Antonella Insalaco, Donato Rigante, Rita Consolini, Maria Cristina Maggio, Adele Civino, Silvana Martino, Alma Nunzia Olivieri, Giovanna Fabio, Serena Pastore, Angela Mauro…

Correction to: P92 chronic arthritis as the only manifestation of FMF in Armenian children

Familial Mediterranean Fever (FMF) is the most common inherited auto inflammatory disease, characterized by recurrent, self–limited attacks of fever and aseptic polyserositis.FMF is widespread in Armenia and t...

Authors: Gayane Khloyan, Gayane Amaryan and Rotraud Saurenmann

Anatomy of the sacroiliac joints in children and adolescents by computed tomography

Diagnosing sacroiliitis by magnetic resonance imaging (MRI) in children/adolescents can be difficult due to the growth-related changes. This study analyzed the normal osseous anatomy of the sacroiliac joints (...

Authors: Anna Zejden and Anne Grethe Jurik

Functional resonance magnetic imaging (fMRI) in adolescents with idiopathic musculoskeletal pain: a paradigm of experimental pain

Studies on functional magnetic resonance imaging (fMRI) have shown that adults with musculoskeletal pain syndromes tolerate smaller amount of pressure (pain) as well as differences in brain activation patterns...

Authors: Juliana Molina, Edson Amaro Jr, Liana Guerra Sanches da Rocha, Liliana Jorge, Flavia Heloisa Santos and Claudio A. Len

Patients with juvenile idiopathic arthritis in clinical remission with positive power Doppler signal in joint ultrasonography have an increased rate of clinical flare: a prospective study

Ultrasonography (US) studies carried out on joints of juvenile idiopathic arthritis (JIA) patients in clinical remission demonstrate the presence of subclinical synovitis. The significance of subclinical synov...

Authors: Vanessa Bugni Miotto e Silva, Sônia de Aguiar Vilela Mitraud, Rita Nely Vilar Furtado, Jamil Natour, Claudio Arnaldo Len and Maria Teresa de Sande e Lemos Ramos Ascensão Terreri

Risk of tuberculosis among Alabama children and adolescents treated with tumor necrosis factor inhibitors: a retrospective study

Tumor Necrosis Factor inhibitors (TNFi) have dramatically improved the outlook for patients with inflammatory arthritides and bowel disease (IBD), but are associated with increased infection risks, including t...

Authors: Matthew L. Stoll, James Aaron Grubbs, Timothy Beukelman, Melissa L. Mannion, Traci W. Jester, Randy Q. Cron and Marilyn J. Crain

Protocols on classification, monitoring and therapy in children’s rheumatology (PRO-KIND): results of the working group Polyarticular juvenile idiopathic arthritis

Several effective pharmacologic treatment options for polyarticual juvenile idiopathic arthritis (JIA) have emerged but initial treatment is heterogeneous in Germany. Therefore, the German Society of Pediatric...

Authors: Gerd Horneff, Ariane Klein, Gerd Ganser, Michaela Sailer-Höck, Annette Günther, Ivan Foeldvari and Frank Weller-Heinemann

Effective induction therapy for anti-SRP associated myositis in childhood: A small case series and review of the literature

Anti-Signal Recognition Particle associated myopathy is a clinically and histopathologically distinct subgroup of Juvenile Idiopathic Inflammatory Myositis, which is under-recognised in children and fails to r...

Authors: E. L. Binns, E. Moraitis, S. Maillard, S. Tansley, N. McHugh, T. S. Jacques, L. R. Wedderburn, C. Pilkington, S. A. Yasin and K. Nistala

H syndrome: 5 new cases from the United States with novel features and responses to therapy

H Syndrome is an autosomal recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, and induration with numerous systemic manifestations. The syndrome is caused by mutations in SLC29A3, a ...

Authors: Jessica L. Bloom, Clara Lin, Lisa Imundo, Stephen Guthery, Shelly Stepenaskie, Csaba Galambos, Amy Lowichik and John F. Bohnsack

Short term effectiveness and experiences of a peer guided web-based self-management intervention for young adults with juvenile idiopathic arthritis

A web-based self-management intervention guided by peer-trainers was developed to support young adults’ self-management in coping with Juvenile Idiopathic Arthritis (JIA). To investigate its effectiveness, a r...

Authors: Judy Ammerlaan, Harmieke van Os-Medendorp, Nienke de Boer-Nijhof, Lieske Scholtus, Aike A. Kruize, Philomine van Pelt, Berent Prakken and Hans Bijlsma

Effects of age and gender on reference levels of biomarkers comprising the pediatric Renal Activity Index for Lupus Nephritis (p-RAIL)

Systemic Lupus Erythematosus (SLE) is a multisystem autoimmune disease that disproportionately effects women and children of minorities. Renal involvement (lupus nephritis, or LN) occurs in up to 80% of childr...

Authors: Michael R. Bennett, Qing Ma, Jun Ying, Prasad Devarajan and Hermine Brunner

Readout-segmented multi-shot diffusion-weighted MRI of the knee joint in patients with juvenile idiopathic arthritis

Diffusion-weighted MRI has been proposed as a new technique for imaging synovitis without intravenous contrast application. We investigated diagnostic utility of multi-shot readout-segmented diffusion-weighted...

Authors: Alexander Sauer, Mengxia Li, Annette Holl-Wieden, Thomas Pabst and Henning Neubauer

Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease

Scleroderma is a multisystem disease, characterized by fibrosis of skin and internal organs, immune dysregulation, and vasculopathy. The etiology of the disease remains unknown, but it is likely multifactorial...

Authors: Abdelali Zrhidri, Saadia Amasdl, Jaber Lyahyai, Hanane Elouardi, Bouchra Chkirate, Laure Raymond, Grégory Egéa, Mohamed Taoudi, Said El Mouatassim and Abdelaziz Sefiani

Assessment, classification and treatment of calcinosis as a complication of juvenile dermatomyositis: a survey of pediatric rheumatologists by the childhood arthritis and rheumatology research alliance (CARRA)

There is no standardized approach to the management of JDM-associated calcinosis and its phenotypes. Current knowledge of treatment outcomes is confined to small series and case reports. We describe physician ...

Authors: A. B. Orandi, K. W. Baszis, V. R. Dharnidharka, A. M. Huber and M. F. Hoeltzel

Assessment of transition readiness in adolescents and young adults with chronic health conditions

Transition from pediatric to adult health care is a vulnerable period for adolescents and young adults. Challenges include paucity of validated measures to assess patients’ transition readiness. We evaluated t...

Authors: Paul T. Jensen, Gabrielle V. Paul, Stephanie LaCount, Juan Peng, Charles H. Spencer, Gloria C. Higgins, Brendan Boyle, Manmohan Kamboj, Christopher Smallwood and Stacy P. Ardoin

Comics as an educational tool for children with juvenile idiopathic arthritis

This study examined whether the comic book Neta and the Medikidz Explain JIA would improve disease-related knowledge and treatment adherence among patients with juvenile idiopathic arthritis (JIA).

Authors: Amir Mendelson, Noa Rabinowicz, Yonit Reis, Gil Amarilyo, Liora Harel, Philip J Hashkes and Yosef Uziel

Proceedings of the 24^th Paediatric Rheumatology European Society Congress: Part two

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Proceedings of the 24^th Paediatric Rheumatology European Society Congress: Part one

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Proceedings of the 24^th Paediatric Rheumatology European Society Congress: Part three

Authors: Erato Atsali, Dimitra Kassara, Pelagia Katsimbri, Sorina Boiu, Dimitrios T. Boumpas, Vana Papaevangelou, Olena A. Oshlyanska, Ludmila I. Omelchenko, Tatiana A. Ljudvik, Katerina Bouchalova, Marcel Schüller, Jana Franova, Jarmila Skotakova, Marie Macku, Antoni Fellas, Fiona Hawke…

Growth and weight gain in children with juvenile idiopathic arthritis: results from the ReACCh-Out cohort

With modern treatments, the effect of juvenile idiopathic arthritis (JIA) on growth may be less than previously reported. Our objective was to describe height, weight and body mass index (BMI) development in a...

Authors: Jaime Guzman, Tristan Kerr, Leanne M. Ward, Jinhui Ma, Kiem Oen, Alan M. Rosenberg, Brian M. Feldman, Gilles Boire, Kristin Houghton, Paul Dancey, Rosie Scuccimarri, Alessandra Bruns, Adam M. Huber, Karen Watanabe Duffy, Natalie J. Shiff, Roberta A. Berard…

Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation

Loss-of-function CECR1 mutations cause polyarteritis nodosa (PAN) with childhood onset, an autoinflammatory disorder without significant signs of autoimmunity. Herein we describe the unusual presentation of an au...

Authors: Andrea Skrabl-Baumgartner, Barbara Plecko, Wolfgang M. Schmidt, Nadja König, Michael Hershfield, Ursula Gruber-Sedlmayr and Min Ae Lee-Kirsch

Incidence and predictors of Uveitis in juvenile idiopathic arthritis in a Nordic long-term cohort study

The incidence of uveitis associated with juvenile idiopathic arthritis (JIA) varies around the world. Our aim was to investigate the incidence and predictors of uveitis in a Nordic population-based cohort.

Authors: Ellen Nordal, Veronika Rypdal, Terje Christoffersen, Kristiina Aalto, Lillemor Berntson, Anders Fasth, Troels Herlin, Susan Nielsen, Suvi Peltoniemi, Bjørn Straume, Marek Zak and Marite Rygg

Joint cartilage thickness and automated determination of bone age and bone health in juvenile idiopathic arthritis

BoneXpert is an automated method to calculate bone maturation and bone health index (BHI) in children with juvenile idiopathic arthritis (JIA). Cartilage thickness can also be seen as an indicator for bone hea...

Authors: Marinka Twilt, Dan Pradsgaard, Anne Helene Spannow, Arne Horlyck, Carsten Heuck and Troels Herlin

Immunogenicity and safety of influenza vaccination in patients with juvenile idiopathic arthritis on biological therapy using the microneutralization assay

Seasonal influenza virus vaccination should be considered in all pediatric patients with rheumatic diseases. Few studies have addressed influenza vaccination safety and efficacy in this group. We aim to prospe...

Authors: M. S. Camacho-Lovillo, A. Bulnes-Ramos, W. Goycochea-Valdivia, L. Fernández-Silveira, E. Núñez-Cuadros, O. Neth and P. Pérez-Romero

Clinical practice variation and need for pediatric-specific treatment guidelines among rheumatologists caring for children with ANCA-associated vasculitis: an international clinician survey

Because pediatric antineutrophil cytoplasmic antibody-associated vasculitis is rare, management generally relies on adult data. We assessed treatment practices, uptake of existing clinical assessment tools, an...

Authors: Clara Westwell-Roper, Joanna M. Lubieniecka, Kelly L. Brown, Kimberly A. Morishita, Cherry Mammen, Linda Wagner-Weiner, Eric Yen, Suzanne C. Li, Kathleen M. O’Neil, Sivia K. Lapidus, Paul Brogan, Rolando Cimaz and David A. Cabral

Changes in clinical and laboratory features of Kawasaki disease noted over time in Daejeon, Korea

Kawasaki disease (KD) becomes one of the common diseases in Korea. Changes in clinical features and laboratory findings of KD were evaluated over a period of 10 years.

Authors: Hong-Ryang Kil, Jae-Won Yu, Sung-Churl Lee, Jung-Woo Rhim and Kyung-Yil Lee

Cross sectional, qualitative thematic analysis of patient perspectives of disease impact in juvenile idiopathic arthritis-associated uveitis

Chronic health conditions in children can have a significant impact on their quality of life. The aim of this study was to explore the subjective experience of children and young people being treated for chron...

Authors: Ethan S. Sen, Michelle J. Morgan, Rachael MacLeod, Helen Strike, Ann Hinchcliffe, Andrew D. Dick, Brinda Muthusamy and Athimalaipet V. Ramanan

Co-existence of Blau syndrome and NAID? Diagnostic challenges associated with presence of multiple pathogenic variants in NOD2 gene: a case report

Pediatric autoinflammatory diseases are rare and still poorly understood conditions resulting from defective genetic control of innate immune system, inter alia from anomalies of NOD2 gene. The product of this...

Authors: Magdalena Dziedzic, Agata Marjańska, Katarzyna Bąbol-Pokora, Anna Urbańczyk, Elżbieta Grześk, Wojciech Młynarski and Sylwia Kołtan

Bone metabolism and inflammatory characteristics in 14 cases of chronic nonbacterial osteomyelitis

Chronic nonbacterial osteomyelitis (CNO) is a multifocal autoinflammatory disease that often impairs daily life in children. This study aimed to investigate the bone metabolic and inflammatory characteristics ...

Authors: Yurika Ata, Yutaka Inaba, Hyonmin Choe, Naomi Kobayashi, Jiro Machida, Naoyuki Nakamura and Tomoyuki Saito

Telemedicine and other care models in pediatric rheumatology: an exploratory study of parents’ perceptions of barriers to care and care preferences

The United States pediatric rheumatology workforce is committed to a mission of providing children access to pediatric rheumatology care. With a limited number and distribution of pediatric rheumatologists, te...

Authors: Danielle R. Bullock, Richard K. Vehe, Lei Zhang and Colleen K. Correll

Cardiac findings in children with juvenile Dermatomyositis at disease presentation

Juvenile Dermatomyositis (JDM) is a pediatric vasculopathy characterized primarily by skin and muscle involvement. Cardiac findings have been reported in children with JDM but have rarely been investigated in ...

Authors: Serdar Cantez, Gil J. Gross, Ian MacLusky and Brian M. Feldman

What do young people with rheumatic disease believe to be important to research about their condition? A UK-wide study

The involvement of people of all ages including young people in research is now widely advocated but prioritisation of research topics is still driven largely by professional agendas. Evidence from adult liter...

Authors: Suzanne Parsons, Wendy Thomson, Katharine Cresswell, Bella Starling and Janet E McDonagh

Methotrexate-induced nausea in the treatment of juvenile idiopathic arthritis

Methotrexate is the most commonly used disease modifying antirheumatic drug in the treatment of juvenile idiopathic arthritis and can be effective in controlling disease in many patients.

Authors: Sonja Falvey, Lauren Shipman, Norman Ilowite and Timothy Beukelman

Predictors of the response to etanercept in patients with juvenile idiopathic arthritis without systemic manifestations within 12 months: results of an open-label, prospective study conducted at the National Scientific and Practical Center of Children's Health, Russia

The aim of this study was to investigate the efficacy of etanercept treatment and to identify predictors of response to therapy within 12 months in patients with juvenile idiopathic arthritis (JIA) without sys...

Authors: Ekaterina I. Alexeeva, Leyla S. Namazova-Baranova, Tatyana M. Bzarova, Saniya I. Valieva, Rina V. Denisova, Tatyana V. Sleptsova, Kseniya B. Isaeva, Alexandra M. Chomahidze, Nikolay I. Taibulatov, Anna N. Fetisova, Anna V. Karaseva and Alexandr A. Baranov

Biologic therapies for refractory juvenile dermatomyositis: five years of experience of the Childhood Arthritis and Rheumatology Research Alliance in North America

The prognosis of children with juvenile dermatomyositis (JDM) has improved remarkably since the 1960’s with the use of corticosteroid and immunosuppressive therapy. Yet there remain a minority of children who ...

Authors: CH Spencer, K Rouster-Stevens, H Gewanter, G Syverson, R Modica, K Schmidt, H Emery, C Wallace, S Grevich, K Nanda, YD Zhao, S Shenoi, S Tarvin, S Hong, C Lindsley, JE Weiss…

Transitional care for rheumatic conditions in Europe: current clinical practice and available resources

To assess European pediatric rheumatology providers’ current clinical practices and resources used in the transition from child-centered to adult-oriented care.

Authors: Daniel Clemente, Leticia Leon, Helen Foster, Loreto Carmona and Kirsten Minden

Design and implementation of a decision aid for juvenile idiopathic arthritis medication choices

Randomized trials have demonstrated the efficacy of patient decision aids to facilitate shared decision making in clinical situations with multiple medically reasonable options for treatment. However, little i...

Authors: William B. Brinkman, Ellen A. Lipstein, Janalee Taylor, Pamela J. Schoettker, Katherine Naylor, Karla Jones, Sheetal S. Vora, Catherine C. Mims, Elizabeth Roth-Wojcicki, Beth Gottlieb, Nancy Griffin, Carole Lannon and Esi Morgan

Challenges in transitioning adolescents and young adults with rheumatologic diseases to adult Care in a Developing Country - the Brazilian experience

Transition guidelines and recommendations for developing countries are limited and best transition practices in young patients with chronic medical conditions have been poorly examined. This study evaluates tr...

Authors: Catherine Gusman Anelli, Ana Luiza Mendes Amorim, Fabiane Mitie Osaku, Maria Teresa Terreri, Claudio Arnaldo Len and Andreas Reiff

Proceedings of the 23^rd Paediatric Rheumatology European Society Congress: part two

Authors: Olga Lomakina, Ekaterina Alekseeva, Sania Valieva, Tatiana Bzarova, Irina Nikishina, Elena Zholobova, Svetlana Rodionovskaya, Maria Kaleda, Yasuo Nakagishi, Masaki Shimizu, Mao Mizuta, Akihiro Yachie, Yuko Sugita, Nami Okamoto, Kousuke Shabana, Takuji Murata…

Proceedings of the 23^rd Paediatric Rheumatology European Society Congress: part three

Authors: Riccardo Papa, Alessandro Consolaro, Francesca Minoia, Roberta Caorsi, Gianmichele Magnano, Marco Gattorno, Angelo Ravelli, Paolo Picco, Roberto Pillon, Denise Pires Marafon, Lidia Meli, Claudia Bracaglia, Andrea Taddio, Fabrizio De Benedetti, Enes Turan, Sara Sebnem Kilic…

Proceedings of the 23^rd Paediatric Rheumatology European Society Congress: part one

Authors: F. De Benedetti, J. Anton, M. Gattorno, H. Lachmann, I. Kone-Paut, S. Ozen, J. Frenkel, A. Simon, A. Zeft, E. Ben-Chetrit, H. M. Hoffman, Y. Joubert, K. Lheritier, A. Speziale, J. Guido, Roberta Caorsi…

Early feeding and risk of Juvenile idiopathic arthritis: a case control study in a prospective birth cohort

Juvenile idiopathic arthritis (JIA) is considered to be an autoimmune disease, but the etiology is unknown. We decided to study the influence of early nutrition on later development of JIA.

Authors: Erik Kindgren, Mats Fredrikson and Johnny Ludvigsson

Education and employment in patients with juvenile idiopathic arthritis – a standardized comparison to the German general population

Although several studies show that JIA-patients have significantly lower employment rates than the general population, the research on educational and occupational attainments in patients with juvenile idiopat...

Authors: Jenny Schlichtiger, Johannes-Peter Haas, Swaantje Barth, Betty Bisdorff, Lisa Hager, Hartmut Michels, Boris Hügle and Katja Radon

Endothelial progenitor cell number is not decreased in 34 children with Juvenile Dermatomyositis: a pilot study

A pilot study to determine endothelial progenitor cells (EPC) number in children with Juvenile Dermatomyositis (JDM).

Authors: Dong Xu, Akadia Kacha-Ochana, Gabrielle A. Morgan, Chiang-Ching Huang and Lauren M. Pachman

Access to pediatric rheumatology care for Juvenile Idiopathic Arthritis in the United Arab Emirates

This study looks at access to care for Juvenile Idiopathic Arthritis through pediatric rheumatology in the UAE, as an example of multi-ethnic society.

Authors: Khulood Khawaja and Mustafa Al-Maini

Harnessing interactive technologies to improve health outcomes in juvenile idiopathic arthritis

Children and adolescents with Juvenile Idiopathic Arthritis (JIA) typically have reduced physical activity level and impaired aerobic and anaerobic exercise capacity when compared to their non-JIA counterparts...

Authors: Andrea Coda, Dean Sculley, Derek Santos, Xavier Girones, Lucie Brosseau, Derek R. Smith, Joshua Burns, Keith Rome, Jane Munro and Davinder Singh-Grewal