Abstract:
BACKGROUND:Juvenile idiopathic arthritis (JIA) is an autoimmune disease characterized by persistent chronic arthritis. Disease risk is believed to be influenced by both genetic and environmental factors. It is well established that the PTPN22 single nucleotide polymorphism (SNP) rs2476601 is associated with JIA susceptibility. It was recently reported in an Australian study that this association is restricted to females and is not observed in males. A significant source of inconsistency amongst the literature on autoimmune disease susceptibility genes stems from an inability to replicate genetic findings across different racial or ethnic groups. We therefore attempted to generate further evidence of the female-specific association of rs2476601 in a homogeneous Greek population. FINDINGS:We genotyped rs2476601 in 128 Caucasian JIA patients (70.3 % female) and 221 healthy controls (28.1 % female) from Northern Greece. Overall, PTPN22 was associated with increased risk of JIA in this Greek sample (OR = 2.3, 95 % CI 1.1 - 5.1, p = 0.038). Sex-stratified analyses showed that, once again, the risk association was restricted to females (Female: OR = 19.9, 95 % CI 1.2 - 342, p = 0.0016; Male: OR = 1.1, 95 % CI 0.3 - 3.1, p = 0.94) supporting the prior findings. CONCLUSIONS:Our data demonstrates that this sex-specific pattern of association is broadly applicable to different populations, and provides further impetus to undertake mechanistic studies to understand the impact of sex on PTPN22 in JIA.
journal_name
Pediatr Rheumatol Online Jjournal_title
Pediatric rheumatology online journalauthors
Goulielmos GN,Chiaroni-Clarke RC,Dimopoulou DG,Zervou MI,Trachana M,Pratsidou-Gertsi P,Garyfallos A,Ellis JAdoi
10.1186/s12969-016-0087-3subject
Has Abstractpub_date
2016-04-23 00:00:00pages
25issue
1issn
1546-0096pii
10.1186/s12969-016-0087-3journal_volume
14pub_type
杂志文章,多中心研究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: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 Nom...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-018-0277-2
更新日期:2018-09-21 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::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: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:BACKGROUND:Bisphosphonates are recommended for use as first-line therapy for the prevention and treatment of glucocorticoid-induced osteoporosis in adults. However, the appropriate usage of bisphosphonates for the prevention or treatment of glucocorticoid-induced osteoporosis in children remains unclear. METHODS:We pe...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-018-0258-5
更新日期:2018-06-18 00:00:00
abstract:BACKGROUND:There are controversies regarding the accuracy of the tuberculin skin test (TST) and methods based on the production of interferon gamma by sensitized T cells for the diagnosis of latent tuberculosis infection (LTBI) in pediatrics and immunosuppressed patients. Our objectives are to study TST and ELISPOT/T. ...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/1546-0096-12-17
更新日期:2014-05-22 00:00:00
abstract::Sports participation can be an integral part of adolescent development with numerous positive short and long-term effects. Despite these potential benefits very high levels of physical activity, during skeletal maturation, have been proposed as a possible cause of cam-type femoroacetabular impingement (FAI). The influ...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章,评审
doi:10.1186/s12969-016-0077-5
更新日期:2016-03-11 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:Early diagnosis and treatment of Juvenile Idiopathic Arthritis (JIA) is essential to optimize outcomes. Wait times (WTs) to consultation with a pediatric rheumatologist consultation is a Canadian quality measure, with benchmarks set at 7 days for systemic JIA (sJIA) and 4 weeks for other JIA categories. In t...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-020-0413-7
更新日期:2020-03-06 00:00:00
abstract:: Juvenile arthritis comprises a variety of chronic inflammatory diseases causing erosive arthritis in children, often progressing to disability. These children experience functional impairment due to joint and back pain, heel pain, swelling of joints and morning stiffness, contractures, pain, and anterior uveitis lead...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/1546-0096-8-20
更新日期:2010-07-08 00:00:00
abstract:BACKGROUND:Intraarticular corticosteroids (IACs) have been used to treat temporomandibular joint (TMJ) arthritis. However, prospective clinical studies with magnetic resonance imaging (MRI) scoring are lacking. The aim of this study was to examine efficacy and safety of a single IAC in the TMJ in adolescents with juven...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-020-00464-3
更新日期:2020-10-01 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: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:OBJECTIVE:To investigate concordance between physicians and parents in rating the degree of functional ability of children with juvenile idiopathic arthritis (JIA). METHODS:The attending physician and a parent were asked to rate independently the level of physical functioning of 155 patients with disease duration >/= ...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/1546-0096-5-23
更新日期:2007-12-11 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
abstract:BACKGROUND:Idiopathic juvenile osteoporosis (IJO) is a rare condition of poorly understood etiology and pathophysiology that affects otherwise healthy children. This condition is characterized clinically by bone pain and vertebral fractures; spontaneous recovery is observed after puberty in the majority of cases. Altho...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/1546-0096-11-6
更新日期:2013-02-19 00:00:00
abstract:: Takayasu arteritis (TA) is a rare chronic inflammatory disease of the aorta and its major branches. It is seen predominantly in females during the second and third decades of life, although it can occur in childhood. The aetiology of TA remains unknown. To date, familial cases of TA have been considered rare; however...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/1546-0096-9-6
更新日期:2011-02-02 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:Temporomandibular joint (TMJ) arthritis and involvement is commonly seen in Juvenile Idiopathic Arthritis (JIA). Therapy includes conservative measures, but also includes intraarticular corticosteroid injections (IASI) and systemic immunosuppressive therapy. Despite aggressive medical therapy, some patients ...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-020-00453-6
更新日期:2020-09-04 00:00:00
abstract:BACKGROUND: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 acceptability of tofacitinib in patients with JIA. METHODS:This Phase 1, open-label, multiple-dose (twice ...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章,多中心研究
doi:10.1186/s12969-017-0212-y
更新日期:2017-12-28 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: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:BACKGROUND:Anti-TNF (Tumor necrosis factor) therapy is effective in treating pediatric patients with refractory rheumatic disease. There is however a concern that anti-TNF usage may increase the risk of malignancy. Reports on specific types of malignancy in this patient population have been emerging over the past decad...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-018-0233-1
更新日期:2018-03-14 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:BACKGROUND: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, telemedicine has been proposed as one way to meet this mission, yet the adoption of this modality has ...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-017-0184-y
更新日期:2017-07-11 00:00:00
abstract:BACKGROUND:There are few studies on radiographic outcome after long-term disease duration in juvenile idiopathic arthritis (JIA). We wanted to evaluate 29-year radiographic outcome in hands/wrists and predictors of damage in patients with long-term active JIA. METHODS:Patients diagnosed from 1980 to 1985, who had acti...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-017-0151-7
更新日期:2017-04-11 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:To test clinical findings associated with early temporomandibular joint (TMJ) arthritis in comparison to the current gold standard contrast enhanced magnetic resonance imaging (MRI) in children with juvenile idiopathic arthritis (JIA). METHODS:Seventy-six consecutive JIA patients were included in this study...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-015-0056-2
更新日期:2015-12-09 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