Articles

Page 49 of 69

OR13-002 Recessive mutations in CECR1, encoding adenosine deaminase 2 (ADA2), cause systemic and cutaneous polyarteritis nodosa (PAN)

Authors: E Levy-Lahad, P Elkan-Navon, R Segel, SB Pierce, T Walsh, J Barash, S Padeh, A Zlotogorski, YY Berkun, JJ Press, M Mukamel, PJ Hashkes, LL Harel, M Tekin, F Yalcinkaya, O Kasapcopur…

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A264

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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OR13-001 Loss-of-function mutations in CECR1, encoding adenosine deaminase 2 (ADA2), cause recurrent fevers and early onset strokes

Authors: Q Zhou, A Zavialov, J Chae, M Hershfield, R Sood, S Burgess, A Zavialov, D Chin, M Gadina, R Goldbach-Mansky, A Ombrello, D Stone, I Aksentijevich and D Kastner

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A263

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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PW03-034 – How to classify autoinflammatory diseases?

Authors: G Grateau, V Hentgen, K Stankovic, I Jéru, S Amselem and O Steichen

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A260

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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PW03-030 – Collecting patients data to inform genetic studies

Authors: AK Bybee, F Aslam, E Majdoub, D Rowczenio, A Baginkska, R Al-Nackkash, W Taylor, P Hawkins and H Lachmann

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A256

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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PW03-019 – Survey of off-label ANTI-IL1 treatments in France

Authors: L Rossi-Semerano, B Fautrel, D Wendling, E Hachulla, A Meyer, S Ottaviani, C Galeotti, M Fouillet-Desjonqueres, O Richer, I Touitou and I Koné-Paut

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A245

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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PW03-016 – Blau prospective cohort study: articular outcomes

Authors: CD Rose, R Cimaz, C Thomee, R Khubchandani, G Espada, R Russo, M Harjacek, B Bader-Meunier, P Brissaud, N Wulffraat, S Vastert, R Merino, A Naranjo-Hernandez, S Oliveira-Knupp, F Mackensen, J Arostegui…

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A242

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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PW03-014B - Gene-expression profiling study in FMF families

Authors: B Aygun, M Carrabba, M Fabbri, L Gribaldo, M Zarantonello and G Fabio

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A241

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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PW03-010 - MHC complexity in Behçet's disease

Authors: MJ Ombrello, Y Kirino, P de Bakker, F Cosan, DL Kastner, A Gul and EF Remmers

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A236

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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P03-027 - A brief Case report on specific undiagnosed condition, whose provisional diagnosis on the basis of provisional lab investigation proved as one of the component of autoinflammatory disorder

Authors: S Sathyanandan and LK Md

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A225

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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P03-023 – Autoinflammatory diseases database in Japan

Authors: T Kawai, R Nishikomori, M Awaya, K Nakagawa, K Izawa, T Yasumi, O Ohara and T Heike

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A221

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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P03-010-B - A novel mutation in MEFV gene is not enough

Authors: D Martorana, M Carrabba and G Fabio

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A206

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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OR10-006 - Canakinumab in patients with TRAPS

Authors: HJ Lachmann, L Obici, A Meini, V Tormey, K Abrams, N Davis, C Andrews, SG Bhansali and M Gattorno

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A189

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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OR10-001 - Altered mitochondrial ROS and metabolism in TRAPS

Authors: R Siegel, L Billingham, M pelletier, C Cudrici, A Ombrello, M Murphy and D Kastner

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A185

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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OR9-001 - Exome sequencing in monogenic Behçet-like disease

Authors: Q Zhou, R Laxer, M Pelletier, M Ramaswamy, H-Y Wang, D Chin, A Gül, C Sibley, M Barat-Houari, R Siegel, DL Kastner and I Aksentijevich

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A184

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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PW02-041 - Canakinumab treatment regimens in CAPS-patients

Authors: F Hofer, T Endres, B Kortus-Götze, N Blank, E Weißbarth-Riedel, C Schuetz, T Kallinich, K Krause, C Rietschel, G Horneff and J Kuemmerle-Deschner

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A182

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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PW02-040 - Low-penetrance NLRP3 variants

Authors: T Endres, F Hofer, R Goldbach-Mansky, HM Hoffman, N Blank, K Krause, C Rietschel, G Horneff, P Lohse and J Kuemmerle-Deschner

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A181

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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PW02-037 - The Eurofever cohort of 136 patients with CAPS

Authors: R Levy, L Gerard, J Kuemmerle-Deschner, H Lachmann, I Koné-Paut, L Cantarini, P Woo, A Naselli, B Bader-Meunier, F De Benedetti, SM Al-Mayouf, S Ozen, M Hofer, J Frenkel, C Modesto, I Nikishina…

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A178

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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PW02-027 - CAPS and cost-effectiveness analysis project

Authors: O Della Casa Alberighi, L Accame, J Frenkel, M Gattorno, A Martini, B Neven, P Quartier, F Pierotti and G Turchetti

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A168

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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PW02-022 - Recurrent fever syndromes: multiple gene mutations

Authors: M Bohm, P Dolezalova, H Lachmann, C Modesto, I Touitou, P Woo, M Finetti, V Hentgen, L Cantarini, F De Benedetti, R Gallizzi, L Obici, R Manna, E Gallo, N Ruperto and M Gattorno

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A162

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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PW02-018 - Impact of PSTPIP1 mutaions on clinical phenotype

Authors: D Holzinger, P Lohse, S Faßl, J Austermann, T Vogl, W de Jager, S Holland, M Gattorno, C Rodriguez-Gallego, J Arostegui, S Fessatou, B Isidor, K Ito, H-J Epple, J Bernstein, M Jeng…

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A158

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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PW02-012 - First clinical description of an infant with DITRA

Authors: L Rossi-Semerano, M Piram, C Chiaverini, D De Ricaud, A Smahi and I Koné-Paut

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A152

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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PW02-008 - TRAPS in the real world: an international registry

Authors: HJ Lachmann, R Papa, K Minden, L Obici, L Cantarini, J Frenkel, J Anton, I Koné-Paut, M Cattalini, B Bader-Meunier, N Ruperto, A Martini, I Touitou, P Woo and M Gattorno

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A148

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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P02-015 - A novel MVK mutation in a child with AA amyloid

Authors: A Kolsky, D Rowczenio, H Lachmann, Z Vernerova, F Votava and P Dolezalova

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A122

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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P02-007 - Childhood autoinflammatory disorders in Qatar

Authors: B Aladbe, A Aly, R Taha, H Elshanti, T Moussa, F Al Amry and B Fathalla

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A114

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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P02-006 - A novel PSTPIP1 mutation in PAPA syndrome

Authors: B Fathalla, M Al-Mutawa, F Al-Amri, S Al-Dosari, M Kambouris and H El-Shanti

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A113

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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P02-002 - IL36RN mutations in patients with DITRA

Authors: JI Arostegui, MA Vicente-Villa, A Chaves, E Gonzalez-Roca, E Ruiz-Ortiz, J Rius, S Plaza, MA Gonzalez-Enseñat and J Yague

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A109

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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PW01-038 – Genomewide association study of Still’s disease

Authors: MJ Ombrello, EF Remmers, E Zeggini, W Thomson, DL Kastner and P Woo

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A91

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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PW01-034 – Clinical-genetic investigation of FMF in Armenia

Authors: H Hayrapetyan, G Amaryan, A Yeghiazaryan and T Sarkisian

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A87

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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PW01-028 – Developing a new severity score for FMF

Authors: E Demirkaya, C Acikel, A Gul, M Gattorno, E Ben-Chetrit, H Ozdogan, P Hashkes, A Polat, O Karadag, A Livneh and S Ozen

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A81

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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PW01-026 – Validation of pediatric diagnostic criteria in FMF

Authors: E Demirkaya, S Ozen, C Saglam, T Turker, A Duzova, P Woo, I Konè-Paut, M Doglio, G Amaryan, J Frenkel, Y Uziel, A Insalaco, L Cantarini, M Hofer, S Boiu, C Modesto…

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A79

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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PW01-025 – Definition of colchicine resistance in FMF

Authors: E Demirkaya, C Acikel, A Tufan, A Kucuk, A Berdeli, A Gul, AM Onat, A Delibas, A Duzova, A Dinc, O Yavascan, O Kasapcopur, B Makay, B Goker, B Sozeri, B Kisacik…

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A78

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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PW01-024 – Phenotypic analysis of a MEFV negative FMF cohort

Authors: A Soriano, D Rigante, L Cerrito, C Fonnesu, L Sicignano, A Gallegos and R Manna

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A77

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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P01-047 – PH with right-sided heart failure in FMF

Authors: AV Sargsyan and MZ Narimanyan

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A50

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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P01-043 – Comparative characteristic of FMF and FMF with HSP

Authors: H Sargsyan and P Ghazaryan

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A46

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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The pediatric rheumatology quality of life scale: validation of the English version in a US cohort of juvenile idiopathic arthritis

This study aims to validate the English version of the Pediatric Rheumatology Quality of Life Scale (PRQL), a concise Health Related Quality of Life (HRQoL) measure, in a US cohort of children with juvenile id...

Authors: Pamela F Weiss, Andrew J Klink, Jennifer Faerber and Chris Feudtner

Citation: Pediatric Rheumatology 2013 11:43

Content type: Research Published on: 8 November 2013
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P01-008 – FMF genotype-phenotype correlations in Germany

Authors: M Jeske, P Lohse, T Kallinich, T Berger, C Rietschel, D Holzinger, C Kamlah, P Lankisch, R Berendes, G Dückers, G Horneff, E Lilienthal, JP Haas, A Giese, F Dressler, J Berrang…

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A12

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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P01-003 – Bleeding disorder in FMF

Authors: O Karadag, T Akin Telli, N Sayinalp and I Ertenli

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A7

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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OR3-002 – Blau Syndrome cohort study: ocular outcome

Authors: CD Rose, R Cimaz, C Thomee, R Khubchandani, G Espada, R Russo, M Harjacek, B Bader-Meunier, P Brissaud, N Wulffraat, S Vastert, R Merino, A Naranjo-Hernandez, S Oliveira Knupp, F Mackenson, J Arostegui…

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A4

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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OR3-001 – RIP2 kinase is activated in Blau Syndrome and IBD

Authors: KP Foley, B Desai, A Vossenkämper, MA Reilly, P Biancheri, L Wang, DB Lipshutz, J Connor, M Miller, PA Haile, LN Casillas, BJ Votta, PJ Gough, TT MacDonald, CH Wouters, CD Rosé…

Citation: Pediatric Rheumatology 2013 11(Suppl 1):A3

Content type: Meeting abstract Published on: 8 November 2013

This article is part of a Supplement: Volume 11 Supplement 1
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Hypergammaglobulinemia in the pediatric population as a marker for underlying autoimmune disease: a retrospective cohort study

The significance of hypergammaglobulinemia as a marker of immune activation is unknown, as a differential diagnosis for hypergammaglobulinemia in children has not been adequately established. The goal of this ...

Authors: Mindy S Lo, David Zurakowski, Mary Beth F Son and Robert P Sundel

Citation: Pediatric Rheumatology 2013 11:42

Content type: Research Published on: 1 November 2013
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The identification of a novel splicing mutation in C1qB in a Japanese family with C1q deficiency: a case report

C1q deficiency is a rare disease that is associated with a high probability of developing systemic lupus erythematosus. We report a 4-year-old Japanese girl who presented with fever, facial erythema, joint pai...

Authors: Yousuke Higuchi, Junya Shimizu, Michiyo Hatanaka, Etsuko Kitano, Hajime Kitamura, Hidetoshi Takada, Masataka Ishimura, Toshiro Hara, Osamu Ohara, Kenji Asagoe and Toshihide Kubo

Citation: Pediatric Rheumatology 2013 11:41

Content type: Case Report Published on: 28 October 2013
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Meta-analysis confirms association between TNFA- G238A variant and JIA, and between PTPN22-C1858T variant and oligoarticular, RF-polyarticular and RF-positive polyarticular JIA

Although more than 100 non-HLA variants have been tested for associations with juvenile idiopathic arthritis (JIA) in candidate gene studies, only a few have been replicated. We sought to replicate reported as...

Authors: Merlyn J Kaalla, K Alaine Broadaway, Mina Rohani-Pichavant, Karen N Conneely, April Whiting, Lori Ponder, David T Okou, Sheila Angeles-Han, Kelly Rouster-Stevens, Milton R Brown, Larry B Vogler, Lynn B Jorde, John F Bohnsack, Michael P Epstein and Sampath Prahalad

Citation: Pediatric Rheumatology 2013 11:40

Content type: Research Published on: 25 October 2013
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Moroccan parents caring for children with juvenile idiopathic arthritis: positive and negative aspects of their experiences

Juvenile idiopathic arthritis (JIA) can lead to serious disability in children and adolescents, requiring intensive home care usually provided by parents .These parents must also cope with physical, familial, ...

Authors: Nada Mawani, Bouchra Amine, Samira Rostom, Dalal El Badri, Majda Ezzahri, Fanata Moussa, Siham Shyen, Sanae Gueddari, Moudjibou Wabi, Bouchra Shkirat and Najia Hajjaj Hassouni

Citation: Pediatric Rheumatology 2013 11:39

Content type: Research Published on: 20 October 2013
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Elevated levels of CXCL10 in the Periodic Fever, Aphthous stomatitis, Pharyngitis and cervical Adenitis syndrome (PFAPA) during and between febrile episodes; an indication of a persistent activation of the innate immune system

The Periodic Fever, Aphthous stomatitis, Pharyngitis and cervical Adenitis syndrome (PFAPA) is the most common periodic fever syndrome in childhood. Clinically, PFAPA may resemble autoinflammatory diseases, bu...

Authors: Jostein Førsvoll, Einar Klæboe Kristoffersen and Knut Øymar

Citation: Pediatric Rheumatology 2013 11:38

Content type: Research Published on: 17 October 2013
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Temporomandibular signs, symptoms, joint alterations and disease activity in juvenile idiopathic arthritis – an observational study

Juvenile idiopathic arthritis (JIA) is a heterogeneous disease that frequently affects also the temporomandibular joint (TMJ) and associated structures. The main aim of this observational study was to describe...

Authors: Anna-Lena Cedströmer, Anna Andlin-Sobocki, Lillemor Berntson, Britt Hedenberg-Magnusson and Lars Dahlström

Citation: Pediatric Rheumatology 2013 11:37

Content type: Research Published on: 17 October 2013
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Chorea, a little-known manifestation in systemic lupus erythematosus: short literature review and four case reports

Chorea is a movement disorder that may be found in children due to several causes. Here we focus especially on Systemic Lupus Erythematosus associated chorea. First we outline its epidemiology, hypothesized pa...

Authors: Sofia Torreggiani, Marta Torcoletti, Federica Cuoco, Giancarla Di Landro, Antonella Petaccia and Fabrizia Corona

Citation: Pediatric Rheumatology 2013 11:36

Content type: Case Report Published on: 16 October 2013
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Malignancies in children and young adults on etanercept: summary of cases from clinical trials and post marketing reports

Malignancy risk may be increased in chronic inflammatory conditions that are mediated by tumor necrosis factor (TNF), such as juvenile idiopathic arthritis (JIA), but the role of TNF in human cancer biology is...

Authors: Michele Hooper, Deborah Wenkert, Bojena Bitman, Virgil C Dias and Yessenia Bartley

Citation: Pediatric Rheumatology 2013 11:35

Content type: Research Published on: 2 October 2013
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Understanding treatment decision making in juvenile idiopathic arthritis: a qualitative assessment

The increase in therapeutic options for juvenile idiopathic arthritis (JIA) has added complexity to treatment decisions. Shared decision making has the potential to help providers and families work together to...

Authors: Ellen A Lipstein, William B Brinkman, Jessica Sage, Carole M Lannon and Esi Morgan DeWitt

Citation: Pediatric Rheumatology 2013 11:34

Content type: Research Published on: 30 September 2013
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Clinical patterns of juvenile idiopathic arthritis in Zambia

Juvenile idiopathic arthritis (JIA) is a heterogeneous group of disorders with different disease manifestations among various populations. There are few reports of JIA among indigenous Africans especially sub-...

Authors: James Chipeta, Panganani Njobvu, Somwe Wa-Somwe, Chifumbe Chintu, Paul E McGill and Richard Bucala

Citation: Pediatric Rheumatology 2013 11:33

Content type: Research Published on: 14 September 2013
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DC-SIGN gene promoter variants and IVIG treatment response in Kawasaki disease

Genetic variants in the inhibiting Fc γRIIB mediate anti-inflammatory responses and influence IVIG refractoriness (IVIG-R). However, these variants are rare in Asian and Hispanic populations so other genes in the...

Authors: Michael A Portman, Howard W Wiener, Miriam Silva, Aditi Shendre and Sadeep Shrestha

Citation: Pediatric Rheumatology 2013 11:32

Content type: Short Report Published on: 5 September 2013
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