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  1. Case Report

    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 ...

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

    Pediatric Rheumatology 2017 15:76

    Published on: 17 October 2017

  2. Research article

    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...

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

    Pediatric Rheumatology 2017 15:75

    Published on: 13 October 2017

  3. Research article

    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...

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

    Pediatric Rheumatology 2017 15:74

    Published on: 13 October 2017

  4. Research article

    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...

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

    Pediatric Rheumatology 2017 15:73

    Published on: 12 October 2017

  5. Research article

    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...

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

    Pediatric Rheumatology 2017 15:72

    Published on: 26 September 2017

  6. Research article

    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 ...

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

    Pediatric Rheumatology 2017 15:71

    Published on: 21 September 2017

  7. Research article

    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...

    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

    Pediatric Rheumatology 2017 15:70

    Published on: 9 September 2017

  8. Research article

    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).

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

    Pediatric Rheumatology 2017 15:69

    Published on: 2 September 2017

  9. Meeting Abstracts

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

    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…

    Pediatric Rheumatology 2017 15(Suppl 2):59

    Published on: 1 September 2017

    This article is part of a Supplement: Volume 15 Supplement 2

  10. Research article

    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...

    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…

    Pediatric Rheumatology 2017 15:68

    Published on: 22 August 2017

  11. Case Report

    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...

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

    Pediatric Rheumatology 2017 15:67

    Published on: 22 August 2017

  12. Research article

    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.

    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

    Pediatric Rheumatology 2017 15:66

    Published on: 18 August 2017

  13. Research article

    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...

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

    Pediatric Rheumatology 2017 15:63

    Published on: 10 August 2017

  14. Research article

    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...

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

    Pediatric Rheumatology 2017 15:62

    Published on: 7 August 2017

  15. Research article

    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...

    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

    Pediatric Rheumatology 2017 15:61

    Published on: 7 August 2017

  16. Research article

    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...

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

    Pediatric Rheumatology 2017 15:58

    Published on: 4 August 2017

  17. Case Report

    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...

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

    Pediatric Rheumatology 2017 15:57

    Published on: 27 July 2017

  18. Research article

    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 ...

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

    Pediatric Rheumatology 2017 15:56

    Published on: 11 July 2017

  19. Research article

    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...

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

    Pediatric Rheumatology 2017 15:55

    Published on: 11 July 2017

  20. Research article

    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...

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

    Pediatric Rheumatology 2017 15:53

    Published on: 3 July 2017

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