Abstract:
BACKGROUND:Diagnosis of Periodic Fever, Aphthous stomatitis, Pharyngitis and Cervical Adenitis (PFAPA) syndrome is currently based on the modified Marshall's criteria, but no validated evidence based classification criteria for PFAPA has been established so far. METHODS:A multistep process, based on the Delphi and Nominal Group Technique was conducted. After 2 rounds of e-mail Delphi survey involving 21 experts in autoinflammation we obtained a list of variables that were discussed in an International Consensus Conference. Variables reaching the 80% of consensus between participants were included in the new classification criteria. In the second phase the new classification criteria and the modified Marshall's criteria were applied on a cohort of 80 pediatric PFAPA patients to compare their performance. RESULTS:The Delphi Survey was sent to 22 participants, 21 accepted to participate. Thirty variables were obtained from the survey and have been discussed at the Consensus Conference. Through the Nominal Group Technique we obtained a new set of classification criteria. These criteria were more restrictive in respect to the modified Marshall's criteria when applied on our cohort of patients. CONCLUSION:Our work led us to identify a new set of classification criteria for PFAPA syndrome, but they resulted to be too restrictive to be applied in daily clinical practice for the diagnosis of PFAPA.
journal_name
Pediatr Rheumatol Online Jjournal_title
Pediatric rheumatology online journalauthors
Vanoni F,Caorsi R,Aeby S,Cochard M,Antón J,Berg S,Brik R,Dolezalova P,Koné-Paut I,Neven B,Ozen S,Pillet P,Stojanov S,Wouters C,Gattorno M,Hofer Mdoi
10.1186/s12969-018-0277-2subject
Has Abstractpub_date
2018-09-21 00:00:00pages
60issue
1issn
1546-0096pii
10.1186/s12969-018-0277-2journal_volume
16pub_type
杂志文章abstract:BACKGROUND:The pathologic diagnosis of isolated myocarditis without pericardial involvement is uncommonly encountered in systemic onset Juvenile Idiopathic Arthritis (soJIA). CASE:An eleven year-old boy with soJIA died suddenly while being treated with the interleukin 1 (IL-1) receptor inhibitor, anakinra. His autopsy...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/1546-0096-10-8
更新日期:2012-04-10 00:00:00
abstract::Mevalonate kinase deficiency (MKD), a very rare autosomal recessive autoinflammatory disease with multiple organ involvement, presents clinically as hyperimmunoglobulinemia D syndrome (HIDS), a less severe phenotype and more common form, and mevalonic aciduria (MVA), a more severe phenotype and rare form. MKD is chara...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章,评审
doi:10.1186/s12969-016-0091-7
更新日期:2016-05-04 00:00:00
abstract:: Recent recognition of the markedly high prevalence of temporomandibular joint (TMJ) arthritis in children with juvenile idiopathic arthritis (JIA) coupled with the significant morbidity associated with TMJ damage has prompted increased interest in both the clinical and pathological aspects of TMJ arthritis. This revi...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/1546-0096-7-11
更新日期:2009-05-29 00:00:00
abstract:BACKGROUND:Acquired complement deficiency can occur in the setting of autoimmune syndromes, such as systemic lupus erythematosus (SLE), with very low or, occasionally, undetectable C3 levels. Based on inherited complement defects, patients with transiently low complement may be at similar risk for serious bacterial inf...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-020-00467-0
更新日期:2020-09-24 00:00:00
abstract:: Xanthomatous skin lesions and arthritis in children are not a common association. We present the case of a 3 year old girl who presented with xanthomatous lesions in the periungual region of both hands, around the nares and on her forehead, associated with significant arthritis that was clinically compatible with mul...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/1546-0096-7-15
更新日期:2009-10-08 00:00:00
abstract:BACKGROUND: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 possible relationship between MEFV gene mutations in intermittent arthritis of children which has recu...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-019-0329-2
更新日期:2019-06-06 00:00:00
abstract:OBJECTIVE:To follow up the refractory juvenile dermatomyositis (JDM) with autologous hematopoietic stem cell transplantation (AHSCT) in a long time and to investigate whether AHSCT is effective and safe to treat refractory JDM. METHODS:We collected the AHSCT and follow-up data of three patients with refractory JDM who...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-018-0284-3
更新日期:2018-11-20 00:00:00
abstract:BACKGROUND: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, and interest in pediatric treatment protocols among rheumatologists caring for children with granuloma...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章,多中心研究
doi:10.1186/s12969-017-0191-z
更新日期:2017-08-07 00:00:00
abstract:BACKGROUND:To characterize suicidality among youth with juvenile fibromyalgia syndrome (JFMS) receiving treatment from pediatric rheumatologists at a tertiary care center in order to determine the prevalence of suicidality in JFMS and to explore risk factors for persistent suicidal ideation. METHODS:We performed a cro...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-020-00487-w
更新日期:2021-01-06 00:00:00
abstract:PURPOSE:We investigated the etiology of acute hepatitis in three children with systemic Juvenile Idiopathic Arthritis (sJIA) taking Interleukin-1 receptor antagonist (IL1RA). METHODS:Laboratory and clinical data for three children with sJIA diagnosed at ages 13 months to 8 years who developed acute hepatitis during tr...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/1546-0096-7-21
更新日期:2009-12-22 00:00:00
abstract:BACKGROUND: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 transition practices from pediatric to adult rheumatology care in Brazil. METHODS:Practicing pediatri...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-017-0176-y
更新日期:2017-05-30 00:00:00
abstract:BACKGROUND:Although Henoch-Schonlein purpura (HSP) is the most common form of systemic vasculitis in children, the long term effect of HSP on endothelial function is still not clear. The aim of our study was to evaluate the long term effect of HSP on endothelial function in children and adolescents. METHODS:This resea...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-016-0135-z
更新日期:2017-01-14 00:00:00
abstract:BACKGROUND:Currently there is no consensus agreement on the degree of enhancement in normal temporomandibular joints (TMJ) in children, which makes it difficult for clinicians to distinguish between the presence/absence of mild synovitis. Quantitative measurements of synovial and condylar enhancement may be useful addi...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-015-0051-7
更新日期:2015-12-01 00:00:00
abstract:BACKGROUND:Remission is the primary objective of treating juvenile idiopathic arthritis (JIA). It is still debatable whether early intensive treatment is superior in terms of earlier achievement of remission. The aim of this study was to evaluate the effectiveness of early etanercept+methotrexate (ETA+MTX) combination ...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-020-00488-9
更新日期:2021-01-06 00:00:00
abstract::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 defined by autosomal recessive inheritance of MEFV gene variants, yet FMF also not uncommonly manifests in indi...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章,评审
doi:10.1186/s12969-019-0324-7
更新日期:2019-05-14 00:00:00
abstract:BACKGROUND:Due to an increased frequency of vasculitis in FMF patients, many investigators have studied MEFV mutations in patients with HSP. The aim of the study is to investigate the frequency and clinical significance of MEFV mutations in Egyptian children with Henoch-Schonlein purpura (HSP). Investigating MEFV mutat...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/1546-0096-12-41
更新日期:2014-09-09 00:00:00
abstract:BACKGROUND:Henoch-Schonlein Purpura (HSP) is one of the most common vasculitides of childhood, with 10-20 cases per 100,000 children. It frequently occurs following an infectious trigger and involves IgA and C3 deposition in small vessel walls. HSP is characterized by palpable purpura plus IgA deposition on biopsy, art...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-018-0270-9
更新日期:2018-09-04 00:00:00
abstract::In 2018, an international Task Force formulated recommendations for treating Juvenile Idiopathic Arthritis (JIA) to target. The Task Force has not yet resolved three issues. The first issue is the lack of a single "best" target. The Task Force decided not to recommend the use of a specific instrument to assess inactiv...
journal_title:Pediatric rheumatology online journal
pub_type: 信件
doi:10.1186/s12969-020-00428-7
更新日期:2020-04-16 00:00:00
abstract:BACKGROUND:Withholding live-attenuated vaccines in patients using interleukin (IL)-1 or IL-6 blocking agents is recommended by guidelines for both pediatric and adult rheumatic diseases, since there is a risk of infection in an immune suppressed host. However, this has never been studied. This retrospective, multicente...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章,多中心研究
doi:10.1186/s12969-018-0235-z
更新日期:2018-03-21 00:00:00
abstract:BACKGROUND:Juvenile Idiopathic Arthritis (JIA) may cause significant impairment in health-related quality of life (HrQoL), despite effective therapies. The aim of this study was to assess HrQoL during first-year treatment in patients with new-onset polyarticular JIA, and to compare treatment strategies. METHODS:In ACU...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章,随机对照试验
doi:10.1186/s12969-019-0370-1
更新日期:2019-12-16 00:00:00
abstract::On March 11th, 2020 the World Health Organization declared COVID-19 a global pandemic. The infection, transmitted by 2019 novel coronavirus (2019-nCov), was first discovered in December 2019, in Wuhan, Hubei Province, and then rapidly spread worldwide. Italy was early and severely involved, with a critical spread of t...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章,评审
doi:10.1186/s12969-020-00422-z
更新日期:2020-04-22 00:00:00
abstract::Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease of childhood, with JIA-associated uveitis its most common extra-articular manifestation. JIA-associated uveitis is a potentially sight-threatening condition and thus carries a considerable risk of morbidity. The aetiology of the condition is auto...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章,评审
doi:10.1186/s12969-016-0088-2
更新日期:2016-04-27 00:00:00
abstract:BACKGROUND:There is a critical shortage of pediatric rheumatologists in the US. Substantial travel to clinics can impose time and monetary burdens on families. The aim of this study was to evaluate the cost of in-person pediatric rheumatology visits for families and determine if telemedicine clinics resulted in time an...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-016-0116-2
更新日期:2016-09-20 00:00:00
abstract:: Although musculoskeletal ultrasound (MSUS) has emerged as an indispensible tool among physicians involved in musculoskeletal medicine in the last two decades, only recently has it become more attractive to pediatric rheumatologists. Thereafter, the use of MSUS in pediatric rheumatology has started to increase. Yet, a...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/1546-0096-9-25
更新日期:2011-09-12 00:00:00
abstract:BACKGROUND:Kawasaki disease (KD) is the most common pediatric systemic vasculitides of unknown etiology. Recent clinical studies led to reappraisal of the usefulness of initial combination therapy of intravenous immunoglobulin (IVIG) plus a corticosteroid for patients with severe KD. However, the molecular mechanisms u...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-020-00461-6
更新日期:2020-10-06 00:00:00
abstract:: Autoimmunity is often observed among individuals with primary immune deficiencies; however, the frequency and role of autoimmunity in Schimke immuno-osseous dysplasia (SIOD) has not been fully assessed. SIOD, which is caused by mutations of SMARCAL1, is a rare autosomal recessive disease with its prominent features b...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/1546-0096-9-27
更新日期:2011-09-13 00:00:00
abstract:BACKGROUND:Muckle-Wells-syndrome (MWS) is an autoinflammatory disease characterized by systemic and organ-specific inflammation due to excessive interleukin (IL)-1 release. Inner ear inflammation results in irreversible sensorineural hearing loss, if untreated. Early recognition and therapy may prevent deafness. The ai...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-015-0041-9
更新日期:2015-11-04 00:00:00
abstract:BACKGROUND:To assess the predictors for intravenous immunoglobulin (IVIG) resistance and coronary artery lesions (CALs) in Kawasaki disease (KD). METHODS:A total of 560 KD patients were reviewed retrospectively, including 410 complete KD (cKD) and 150 incomplete KD (iKD) patients. The laboratory data were compared bet...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-017-0149-1
更新日期:2017-03-21 00:00:00
abstract:BACKGROUND/PURPOSE:To assess EDI-OCT (enhanced depth imaging optical coherence tomography) of choroid for inflammatory signs in children with polyarteritis nodosa (PAN) and adenosine deaminase-2 deficiency (DADA-2). METHODS:In this cross-sectional study conducted between June 2017 and September 2018, we evaluated chil...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-020-0417-3
更新日期:2020-04-03 00:00:00
abstract:BACKGROUND:Kawasaki disease (KD) is an acute febrile systemic vasculitis that affects small and medium blood vessels. Intensified treatments for the most severely affected patients have been proposed recently, and the early identification of KD patients at high risk for coronary artery aneurysms (CAA) is crucial. Howev...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-018-0264-7
更新日期:2018-07-18 00:00:00