dataesr/scientific-paragraphs-categorization huggingface dataset:
Methods: This was an open-label, non-comparative study of CANnaïve SJIA pts (≥2 to <20 years) receiving subcutaneous CAN 4 mg/ kg every 4 weeks. Efficacy was assessed every 3 months by the aACR 30/50/70/90/100) responses compared to baseline (BL), ID or CR (ID for >6 months) and changes in JADAS10-CRP scores over time. Safety was assessed by adverse events (AEs) and serious AEs (SAEs). The results are based on the observed data with imputations to carry the last observation forward. Results: Of 123 pts with active SJIA, 70 (57%) had fever and 71 (57. 7%) used corticosteroids at BL. Mean CRP was 117. 8 mg/L (normal: 0-10 mg/L), and, on average, pts had 9. 9 active joints and 8. 9 joints with limited motion. A rapid response was observed at Day 15: 59 (51%) and 27 (26%) pts had aACR ≥70 and aACR 100 responses, respectively.
We took into account only variants with a frequency in the global population <1%, as reported in dbSNP and Ensembl databases. 25% of patients showed monogenic variants, both novel or already known, while variants in two or more genes were found in 5% of patients. In details, 33% of total variants was found in NOD2 gene, 19% in MEFV, 16% in NLRP12, 12% in NLRP3, 9% in PSTPIP1 and 5% in both TNFRSF1A and MVK. Several of these variants do not have a clear functional significance yet, while some of them are described as risk factors. We performed 19 familial study to unravel the segregation of some variants. Conclusion: NGS allowed the identification of a large amount of genetic variants in different genes. The major challenge is represented by the interpretation of the clinical relevance of the identified variants, particularly of variants that are found at low, but >1% frequency in various populations.
These may indeed function as susceptibility alleles to inflammation rather than disease associated mutations. Some patients show variants in different genes that may cooperate to cause a clinical phenotype or, on the other hand, may be irrelevant. Therefore large-scale population studies, in vitro functional assays and careful correlation between genetic information and phenotypic data are needed. Cooperations with clinicians as well as collaborations with different laboratories using NGS is crucial in order to generate information that are scientifically rigorous and relevant for patient management. Introduction: Canakinumab (CAN) has been shown not to impair antibody production following vaccination in children in an openlabel phase 3 study (NCT01302860)  [1]. Here we present the results from the extension of this study.
For 19/20 patient-vaccinations, including those without pre-dose antibody titres, protective levels were observed during the study, which were maintained throughout the extension. Conclusion: Canakinumab appeared to have no effect on postvaccination antibody production following the administration of nonlive vaccines in CAPS patients. Introduction: Chronic nonbacterial osteomyelitis (CNO) is one of the most common autoinflammatory bone disorders in childhood. Until now few data are available about the treatment and outcome of these patients. Several studies, all uncontrolled, have suggested the efficacy of non-steroidal anti-inflammatory drugs (NSAIDs), glucocorticoids, methotrexate, bisphosphonates and tumour necrosis factor α (TNF-α) inhibitors. These drugs are differently used with variable degree of response Objectives: To evaluate demographics, clinical features, laboratory and radiological assessment, therapeutic response in a large cohort of Italian CNO patients Methods: Since 2015 CNO patients from 8 Italian centers were included in the new longitudinal section of the Eurofever registry.
Demographic data, clinical manifestations and response to treatment were analysed. Results: baseline data from 116 patients are so far available. 72 (61%) females, 111 (95. 7%) Caucasian with a median age at disease onset of 10 years. Disease duration at diagnosis was 7. 1 months (IQR 3. 1-18. 5). Disease course was continuous in 73 patients (62. 9%), recurrent in 35 (30. 2%) and continuous and recurrent in 8 (7%). All patients presented with musculoskeletal involvement at the onset of disease (bone pain 91. 4%, arthralgia 84. 5%, bone alteration 55. 2%, osteitis 55%, osteolytic lesions 48. 3%, myalgia and arthritis were found in a minority of the patients). Other features include constitutional symptoms in 64 patients (55. 2%), muco-cutaneous manifestations in 17 (14. 7%), gastrointestinal involvement in 10 (8.
Methods: Clinical and genetic data from patients with an undefined AID were retrospectively collected in the Eurofever registry. Clinical classification criteria for FMF, MKD, TRAPS and CAPS as defined by Federici et al. were applied on the dataset  [1]. Results: Out of the 268 patients in the Eurofever database registered with an undefined AID, 21 were excluded from further analyses because of incomplete clinical data (20) or a positive mutation for TRAPS  (1). The median age of disease onset was 4. 2 years (interquartile range 1. 3-12. 8). Patients had a median of 12  (5) (6) (7) (8) (9) (10) (11) (12) (13) (14) (15)  episodes per year with a median duration of 4 (3-7) days. In 47 patients relatives were affected as well. In 204 patients analysis of one or multiple genes was performed. In 31 patients genetic variants, excluding benign polymorphisms, were found in the MEFV (12), TNFRSF1A (8), NOD2 (9), NLRP3  (6) , MVK (3) and NLRP12 gene  (3).
O26 The multifaceted presentation of chronic recurrent multifocal osteomyelitis: a series of 466 cases from the Eurofever international registry Hermann Girschick 1 , Martina Finetti 2 , Francesca Orlando  This abstract is not included here as it has already been published. Objectives: Primary endpoint of the study is safety in JIA patients undergoing immunosuppressive therapy. A preliminary analysis of infections has been performed by an independent Safety Ajudication Committee of 6 experts (3 pediatric rheumatologists and 3 pediatric infectious disease specialists). Methods: The centres were asked to report all infections encountered by the patients followed for JIA. Data were checked by PRINTO and the medical monitor based on MedDRA dictionary. Upon completion of these steps, all eligible cases for adjudication, represented by serious/severe/very severe infections, were submitted to the expert Committee.
Conclusion: This was the first study to evaluate the PK of canakinumab given in the LIVI form. The results observed in crFMF, HIDS/MKD and TRAPS pts were similar to those observed in other indications (CAPS and SJIA) using the lyophilisate form. These data suggested that the new formulation did not affect the PK/PD of canakinumab and similar to CAPS, patients with higher levels of IL-1β require canakinumab uptitration to achieve optimal disease control. Methods: Blood samples were collected from 51 CNO patients of the cohort upon informed consensus. We selected 112 genes involved in autoinflammation and we used an Ion Torrent platform to sequence the coding regions. All the annotations and pathogenic prediction were performed with VEP (http://www. ensembl. org/info/docs/tools/ vep/index. html) and all the potential pathogenic variants will be confirmed using Sanger sequencing.
Laboratory data, diagnostic imaging, histological features and clinical course are also collected and all the data are stored in a relational database. Introduction Results: Clinical data of 116 patients with CNO diagnosis and included in the Italian Cohort were collected. DNA samples from 51 patients were available. They were the only patients included in the present study. The patients were 33 females (65%) and 18 males (35%). Median age of first complaint was 10 years (range 4-16). Median sites number was 5 (range 1-26 sites). The majority of bone lesions was located in the long bones 63%, followed by pelvis (59%), column (43%), thorax (26%), clavicle (24%), extremities (17%), skulls (6%) and mandible (4%). Blood examination revealed increased erythrocyte sedimentation rate and C-reactive protein in 82% and 65% of cases respectively.
The data were collected using both a demographic data form and a semistructured interview form. The interview form was developed by the authors based on the literature search, the theoretical framework, expert opinion, and included open-ended items to gather data regarding the experiences of the participants with respect to their diseases. The study was performed on individual patient face-to face interview. Data were analyzed by grounded theory and the N Vivo 9 software program. Results: Four categories were obtained. These categories were (i) physical effects of the illness, (ii) emotional effects of the illness, (iii) social effects of the illness and (iv) experienced challenges related to treatment process. In the physical effect category there are two themes; symptoms and the limitations about the illness.
Results: Of over 900 publications identified initially, 117 underwent full-text review, and 72 were included. One poster was also considered along with one online national recommendation. In all of the participants Power Doppler vascularization signal of both knee joints was graded from 0-3 by EULAR certificated instructor in MSUS. FLIR ONE smartphone connected device was used to obtain infrared thermal image of every patient's knee joint prior to the MSUS examination, without clothes and with same environment conditions (room temperature was set to 20 °C). Acquired images were analyzed using FLIR Tools software for thermal image analysis with automatically set range of temperatures. On every image, both knee joints were selected using manual ellipse measurement tool and the data on average, minimum and maximum temperature inside the circle was collected.
Subsequent statistical analysis of selected data was performed with Graphpad Prism software. Results: In sixteen knee joints of nine patients a PD signal was above 0,5 (0,5-2,5), which was defined as an active inflammation, while in twenty-four knee joints of thirteen patients PD signal was 0, which was defined as no inflammation. Average value of average temperature in knee joints with inflammation was 33,72 °C (31,3 °C -35,4 °C) and in patients without inflammation 29,81 °C (23,9 °C -31,9 °C), average value of maximal temperature was 34,98 °C (32,7 °C -36,9 °C) and 31,08 °C (25 °C -33,3 °C), while average value of difference between maximal and minimal temperature was 4,73 °C (2,6 °C -7,7 °C) and 2,96 °C (1,2 °C -5,7 °C) respectively. Statistical analysis revealed significant difference in all of the measurements between knee joints with and without active inflammation (p < 0,05).
Objectives: To determine the clinical and laboratory differences between leukemic arthritis and juvenile idiopathic arthritis at onset of symptoms Methods: Patients under 16 years old, both genders, initially presenting to the Pediatric Rheumatology unit, General Hospital, National Medical Center La Raza, with diagnosis of probable JIA, without blast cells in peripheral blood, where the final diagnosis was acute lymphoblastic leukemia or juvenile idiopathic arthritis. The clinical and laboratory manifestations were evaluated. Data were expressed as percentages for each analysis area. Chi square and Relative Risk (qualitative variables) and Mann-Whitney and T test for comparison of means between groups The data were analyzed by software using SPSS version 15. 0. Results: We analyzed data on 34 patients, 9 with leukemic arthritis and 25 with JIA.
Conclusion: The preliminary results do not evidenced a clear correlation between IMT and JADAS or other outcome measures. These results need to be confirmed in a larger cohort of patients. There are no such data for Australasia. Objectives: To describe the treatment and 1-year clinical outcomes of an inception cohort of newly diagnosed Australian children with juvenile idiopathic arthritis (JIA) followed at a tertiary paediatric centre. Methods: Retrospective review of prospectively collected clinical data from a specifically designed electronic rheumatology database on all patients newly diagnosed with JIA at the Royal Children's Hospital, Melbourne, between October 2010 and October 2014. Results: 134 patients were included. Sixty one percent were female. The mean age at diagnosis was 8. 3 years.
The evaluation of capillaries was performed using a stereoscopic microscope, the measurements were done using the program AxioVision. The capillary system was evaluated by assessesmant of number or loss of capillaries, the number of enlarged and giant capillaries, haemorrhages, neoangiogenic capillaries and their disorganization. The evaluation was made using the scoring system of the capillaroscopic parameters 1. The score at the time of diagnosis and during improvemen or remission was compared. Results: At the time of diagnosis microangiopathy with sclerodermalike pattern was detected in all patients. The most characteristic feature were reduced number of capillaries, neoangiogenic and enlarged capillaries. The capillary pattern was dependent on disease activity. Conclusion: Capillaroscopy is simple and noninvasive method for the diagnosis and evaluation of disease activity in children with juvenile dermatomyositis.
P129 Microparticles as a therapeutic target for plasma exchange in antineutrophil cytoplasmic antibody associated vasculitis? Ying Hong 1 , Despina Eleftheriou 1 , Sira Nanthapisal 1 , Alan Salama 2 , David Jayne 3 , Mark Little 4 , Paul Brogan The therapeutic mechanisms of PE in AAV are poorly understood, but it is likely that PE removes autoantibodies and other plasma constituents involved in AAV. We have previously shown that circulating neutrophil microparticles (MP) are key inflammatory mediators underpinning the pathogenesis of AAV. Objectives: The aim of this project was to investigate whether MP are removed from the circulation of patients with AAV by PE, and therefore are potentially an important therapeutic target. This was an ancillary study of a major international clinical trial of therapeutic PE in AAV, the PEXIVAS trial (NCT #NCT00987389).
v. cyclophosphamide did not abate the process which eventually affected abdominal aorta, iliac, renal and pulmonary arteries. Postcontrast gadolinium enhancement was noticed in the wall of these large vessels corresponding to persistent inflammatory activity despite the disappearance of the fibrous/LN retroperitoneal mass. After introduction of rituximab and later also low-dose weekly methotrexate (MTX) disease activity slowly diminished. After 18 months of this therapy she has been able to reduce her CS dose to 0,1 mg/kg/day and is doing well clinically, laboratory and imaging-wise. Literature search of the PubMed database from 2003 revealed 31 cases of RPF in children with typical onset age between 10 and 15 years, but none of them presented with arterioocclusive process. Around half of the patients presented with an associated autoimmune condition, and in two cases the association with malignancy was described.
Results: at the onset in all children with suspected FMD TA in identifying RVG, not amenable to standard anti-hypertensive therapy, the presence of vascular noise in the projection of the large arteries and the data of instrumental examination (Doppler ultrasound -thickening of artery walls and increased linear velocity of blood flow). However, all patients were not inflamatory syndrome at the beginning, typical for the acute phase of TA and laboratory signs of activity throughout the observation period. For differential diagnosis, along with named above instrumental methods of examination, and in 4 children was used positron emission tomography, allowing to estimate objectively the absence of active inflammatory process in the walls of arteries. Surgical treatment was performed 5 of the 7 patients with FMD.
In 2 patients, in marked stenosis of the renal arteries, attempt balloon angioplasty did not lead to the desired effect. Only autovenous bilateral aortorenal prosthesis has allowed everyone to stop RVG. Objectives: Based on our study published in 2009, the analysis of MRP8/14 serum levels has been offered to paediatric rheumatologists in Germany in the last years. Therefore, we aimed to validate the findings from our pilot study in samples from daily clinical practice and to evaluate their relevance in clinical practice. Methods: The study was designed as a retrospective analysis. The study group comprised 984 patients from 44 centers who presented with FUO. Patients were selected from our database between January 2009 and October 2012. Data collected included signs (laboratory parameters CRP, BSG, leucocytes) and symptoms as well as the final diagnosis made by the caring physicians.
Both response criteria have shown a similar discrimination in evaluating different levels of improvement in new onset JDM patients treated with 3 alternative treatment strategies. Trial registration identifying number: ClinicalTrials. gov identifier: NCT00323960 EudraCT number: 2005-003956-37 Disclosure of Interest C. Lavarello: None Declared, G. Giancane: None Declared, A. Pistorio: None Declared, L. Rider: None Declared, R. Aggarwal: None Declared, S. K. Oliveira: None Declared, R. Cuttica: None Declared, M. Fischbach: None Declared, G. Sterba: None Declared, K. Brochard: None Declared, F. Dressler: None Declared, P. Barone: None Declared, R. Burgos-Vargas: None Declared, E. Candell Chalom: None Declared, M. Desjonqueres: None Declared, G. Espada: None Declared, A. Fasth: None Declared, S.
Trial registration identifying number: ClinicalTrials. gov identifier: NCT00323960 EudraCT number: 2005-003956-37 Disclosure of Interest G. Giancane: None Declared, C. Lavarello: None Declared, A. Pistorio: None Declared, F. Zulian: None Declared, B. Magnusson: None Declared, T. Avcin: None Declared, F. Corona: None Declared, V. Gerloni: None Declared, S. Pastore: None Declared, R. Marini: None Declared, S. Martino: None Declared, A. Pagnier: None Declared, M. Rodiere: None Declared, C. Soler: None Declared, V. Stanevicha: None Declared, R. Ten Cate: None Declared, Y. Uziel: None Declared, J. Vojinovic: None Declared, A. Ravelli: None Declared, A. Martini Grant / Research Support from: The G. Gaslini Hospital, which is the public Hospital where I work as full time public employee, has received contributions from the following industries for.
Conclusion: HPV itself may be a possible extrinsic triggering infectious agent causing the development of BD. Trial registration identifying number: This research was supported by the Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education (2014R1A1A2059503). Disclosure of Interest None Declared P146 A case of Churg-Strauss syndrome in a 12-year-old girl Maka Ioseliani, Ivane Chkhaidze, Maia Lekishvili, Nana Tskhakaia, Shorena Tvalabeishvili, Aleksandre Kajrishvili M. Iashvili Children's Central Hospital, Tbilisi, Georgia Presenting author: Maia Lekishvili Pediatric Rheumatology 2017, 15(Suppl 1):P146.
Each patient received a retrospective and cross-sectional assessment. Parent-and child-reported outcomes were recorded through the administration of the Juvenile Arthritis Multidimensional Assessment Report (JAMAR). Participating countries were grouped into 6 geographic areas. Results: Currently, 8,325 patients from 44 countries have been entered in the web database. Comparison of main epidemiology, treatment, and outcome features across the different geographic areas is presented in the table. Conclusion:These results provide further evidence of the wide difference of JIA characteristics across geographic areas in terms of age at disease onset, subtype prevalence, and frequency of anterior uveitis. Overall, patients living in non-Western countries had higher levels of disease activity and cumulative damage than patients followed in North America and Western Europe.
: Both response criteria have shown a similar discrimination in evaluating different levels of improvement in new onset JDM patients treated with 3 alternative treatment strategies. Trial registration identifying number: ClinicalTrials. gov identifier: NCT00323960 EudraCT number: 2005-003956-37 Disclosure of Interest C. Lavarello: None Declared, G. Giancane: None Declared, A. Pistorio: None Declared, L. Rider: None Declared, R. Aggarwal: None Declared, S. K. Oliveira: None Declared, R. Cuttica: None Declared, M. Fischbach: None Declared, G. Sterba: None Declared, K. Brochard: None Declared, F. Dressler: None Declared, P. Barone: None Declared, R. Burgos-Vargas: None Declared, E. Candell Chalom: None Declared, M. Desjonqueres: None Declared, G. Espada: None Declared, A. Fasth: None Declared, S.
0 (2. 0, 5. 0) and 13. 0 (6. 0, 17. 0) years; number of active joints: 7. 0 (2. 0, 27. 0) and 10. 0 (2. 0, 42. 0). The target therapeutic C minss was achieved in both cohorts (mean [SD] C minss at 4 months: 2-5 years: 50. 1 [14. 2] μg/mL; 6-17 years: 42. 1 [14. Trial registration identifying number: ClinicalTrials. gov NCT01844518 Disclosure of Interest.
To date over 300 alterations have been reported in MEFV genes. But, it is not clear whether all these alterations are disease-causing mutations. Objectives:The aim of this study was to evaluate the clinical significance of homozygous R202Q alteration of the MEFV Gene. Methods: Medical records of patients with homozygous R202Q alteration were screened retrospectively. Information including demographic features, clinical and laboratory findings, type of MEFV mutation were collected from the hospital's computerized database. The patients having another MEFV mutations were excluded from the study. Results: A total of 128 patients, 93 child (72. 7%), 38 adult (27. 3%) and 66 female (51. 6%), 62 male (48. 4%) were included in the study. Mean age at the onset of symptoms were 7. 75 ± 4. 10 years (1-17) and 30.
FMF is an autosomal recessive disorder characterized by recurrent febrile attacks accompanied by serosal and synovial membrane inflammation. raneanFever(MEFV) gene mutation among FMF patient in the pediatric population in Tehran -Iran. Methods: This study is a prospective cross sectional study of patients diagnosed with Familial Mediterranean Fever (FMF) who was registered in the autoinflammatory computer database registration through periodic fever clinic, which was established for this reason, in the medical center of children in 23. 09. 2012 in Tehran-Iran and data were collected with standardized forms. P22Observational clinical survey and investigation of autoinflammatory candidate genes role in an Italian cohort of pediatric patients with chronic non-bacterial osteomyelitis Giovanna Ferrara 1 , Serena Pastore 2 , Antonella Insalaco 3 , Manuela Pardeo 3 , Alberto Tommasini 2 , Francesco La Torre 4 , Clotilde Alizzi 5 , Rolando Cimaz 6 , Martina Finetti 7 , Marco Gattorno 7 , Pio D'Adamo 1 , Andrea Taddio 1,2 1 University of Trieste, Trieste, Italy; 2 Institute of Child and Maternal Health -IRCCS "Burlo Garofolo", Trieste, Italy; 3 IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy; 4 Antonio Perrino Hospital, Brindisi, Italy; 5 Ospedale Pediatrico G.
Currently, no data is available on the effect of CAN on Health-Related Quality of Life (HRQoL) in pts with PFS. Objectives: To assess the effect of CAN on HRQoL using Child Health Questionnaire-Parent Form 50 (CHQ-PF50) and Short Form-12 Health Survey (SF-12) in pts with PFS. Methods: In this Phase 3, randomised, placebo-controlled study of CAN in pts with PFS (NCT02059291), SF-12 Physical Component Summary (PCS) and Mental Component Summary (MCS) scores were assessed in adults, whereas CHQ-PF50 Physical Summary (PhS) and Psychosocial Summary (PsS) scores were assessed in children (>5-< 18 years). Results:Of the 181 pts (63 crFMF, 72 MKD/HIDS, 46 TRAPS) randomised to CAN or placebo, 71 were adults (age ≥18 years) and 110 were children (age ≥2-< 18 years). Pts who initially received placebo and did not respond were switched to CAN.