Association ofSLC11A1(NRAMP1) with persistent oligoarticular and polyarticular rheumatoid factor-negative juvenile idiopathic arthritis in Finnish patients: Haplotype analysis in Finnish families

2005 ◽  
Vol 52 (1) ◽  
pp. 247-256 ◽  
Author(s):  
Jonathan A. Runstadler ◽  
Hanna Säilä ◽  
Anneli Savolainen ◽  
Marjatta Leirisalo-Repo ◽  
Kimmo Aho ◽  
...  
2017 ◽  
Vol 23 (1) ◽  
Author(s):  
Marta Dzhus

The assessment of long-term outcome of functional disability and disease activeness in adult patients with juvenile idiopathic arthritis appears to be complicated due to the absence of a unified approach to the classification and estimation of disease activeness, as well as the loss of supervision over a patient because of remission or his/her transition from pediatric to adult rheumatic service. The objective of the research was to determine how adults with the history of juvenile idiopathic arthritis fulfill the classification criteria for adult rheumatic diseases, as well as to assess activeness of these diseases, the degree of functional disorders, and social activeness of patients in Ukraine. Materials and methods. Patients with juvenile idiopathic arthritis older than 18 years and with more than 3 years of disease duration living in different parts of Ukraine were included into the study. Data regarding sociodemographic features, fulfillment of adult classification criteria, Health Assessment Questionnaire, articular and extra-articular Juvenile Arthritis Damage Index and disease activity were analyzed.Results. We observed 122 adult patients with the history of juvenile idiopathic arthritis irrespective of the presence of active inflammation at the moment of the examination. This group included patients from different regions of Ukraine diagnosed with juvenile idiopathic arthritis during 1984-2013. An adult rheumatologist examined all patients and the diagnosis was revised according to the adult classification of rheumatic diseases. Typical diagnostic criteria for rheumatoid arthritis were estimated in 32.8% of patients, ankylosing spondylitis – in 31.1% of patients, undifferentiated arthritis – in 13.9% of patients, Still’s disease – in 4.9% of patients, psoriatic arthritis – in 0.8% of patients, steady clinical laboratory remission – in 16.5% of patients. Most patients (81.8%) with rheumatoid factor positive polyarticular juvenile idiopathic arthritis fell under rheumatoid arthritis criteria in adulthood, and in 85% of patients with enthesitis-related arthritis as well as 53.8% of patients with extended oligoarthritis ankylosing spondylitis developed in adulthood. 68.8% of patients with systemic juvenile idiopathic arthritis, 68% of patients with rheumatoid factor negative polyarthritic subtype and 55% of patients with enthesitis-related arthritis had disability and incapacitation. Minimal disorders of the patients’ general condition according to the Health Assessment Questionnaire in adult age were found in most subtypes of juvenile idiopathic arthritis classified according to the International League of Associations for Rheumatology (extended and persistent oligoarthritis, rheumatoid factor positive polyarthritis, systemic subtype); moderate disorders of the general condition were found in enthesitis-related arthritis and rheumatoid factor negative polyarthritis. Side effects of juvenile idiopathic arthritis according to the articular Juvenile Arthritis Damage Index included severe articular damage being most frequently found in systemic and rheumatoid factor positive polyarthritis subtypes of juvenile idiopathic arthritis, while side effects of juvenile idiopathic arthritis according to the extra-articular Juvenile Arthritis Damage Index included extra-articular damage being found in systemic and rheumatoid factor negative polyarthritis subtypes of juvenile idiopathic arthritis, that was confirmed by the assessment of physical health according to the Short Form Health Survey-36, which was the worst in patients with systemic (40.3±12.6) and rheumatoid factor negative polyarthritis (38.9±9.4) subtypes of juvenile idiopathic arthritis.Conclusions. Further research of remote consequences of juvenile idiopathic arthritis in adult age and long-term observation of such patients require a detailed study to improve diagnostics and provide adequate treatment of rheumatic diseases with juvenile onset in adult age.


2018 ◽  
Vol 77 (10) ◽  
pp. 1426-1431 ◽  
Author(s):  
Orazio De Lucia ◽  
Viviana Ravagnani ◽  
Francesca Pregnolato ◽  
Arvena Hila ◽  
Irene Pontikaki ◽  
...  

ObjectivesTo define the correlation between joint ultrasonography and clinical examination in patients with juvenile idiopathic arthritis (JIA) and to assess whether synovitis detected by ultrasonography in clinically inactive patients predicts arthritis flares.Methods88 consecutive patients with JIA—46 (52%) with persistent oligoarthritis, 15 (17%) with extended oligoarthritis, 15 (17%) with rheumatoid factor-negative polyarthritis and 12 (14%) with other forms of JIA, all clinically inactive for a minimum of 3 months—underwent ultrasound (US) assessment of 44 joints. Joints were scanned at study entry for synovial hyperplasia, joint effusion and power Doppler (PD) signal. Patients were followed clinically for 4 years.ResultsUS was abnormal in 20/88 (22.7%) patients and in 38/3872 (0.98%) joints. Extended oligoarthritis and rheumatoid factor-negative polyarthritis were more frequent in US-positive than in US-negative patients (35.0% vs 11.8% and 30.0% vs 13.2%, respectively; P=0.005). During 4 years of follow-up, 41/88 (46.6%) patients displayed a flare; 26/68 (38.2%) were US-negative and 15/20 (75%) were US-positive at baseline. Abnormality on US examination, after correction for therapy modification, significantly increased the risk of flare (OR=3.8, 95% CI 1.2 to 11.5). The combination of grey scale and PD abnormalities displayed a much higher predictive value of relapse (65%, 13/20) than grey scale alone (33%, 6/18).ConclusionsUS abnormalities are a strong predictor of relapse at individual patient level. Irrespective of treatment, the risk of flare in US-positive versus US-negative patients was almost four times higher. In case of US abnormalities, patients should be carefully followed regardless of both the International League of Associations for Rheumatology and Wallace categories.


2008 ◽  
Vol 68 (5) ◽  
pp. 635-641 ◽  
Author(s):  
F H M Prince ◽  
M Twilt ◽  
R ten Cate ◽  
M A J van Rossum ◽  
W Armbrust ◽  
...  

Objective:We undertook an observational study to obtain a complete overview of the long-term effectiveness and safety of etanercept in patients with different juvenile idiopathic arthritis (JIA) subtypes.Methods:At baseline we collected patient and disease characteristics of all Dutch patients with JIA who started treatment with etanercept. Disease activity was evaluated (at start of the study, after 3 months and then yearly) according to the JIA core set of the American College of Rheumatology paediatric definition for 30, 50 and 70% improvement (ACR Pedi 30, 50 and 70). Use of etanercept and concomitant drugs was monitored. Adverse events were recorded.Results:We included 146 patients with JIA with a median follow-up of 2.5 years per patient (range 0.3–7.3). JIA subtypes represented: 27% systemic, 8% polyarticular rheumatoid factor positive, 38% polyarticular rheumatoid factor negative, 19% oligoarticular extended, 3% enthesitis-related and 5% psoriatica. Most patients (77%) met the criteria of the ACR Pedi 30 in the first 3 months of treatment. For the majority of patients this improvement was sustained; 53 (36%) of all patients met the remission criteria. No other second-line agents were needed in 43 patients. Although patients with systemic JIA responded initially less to etanercept therapy than patients from other subtypes, those who did respond showed equal effectiveness in the long term. Serious adverse events rate was low (0.029 per patient year).Conclusions:Etanercept is effective and safe in JIA, even for a large proportion of the patients with systemic JIA. The greatest improvement occurred in the first 3 months of treatment, and was sustained for a long time in most patients (up to 75 months).


Rheumatology ◽  
2021 ◽  
Vol 60 (Supplement_5) ◽  
Author(s):  
A Fazaa ◽  
F Ben Messaoud ◽  
S Miladi ◽  
L Souabni ◽  
K Ouenniche ◽  
...  

Abstract Background Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic disease in children and is one of the major causes of morbidity and physical disability. Due to frequent absences, children with chronic health impairments are also often confronted with educational difficulties. The aims of this study were to assess the impact of JIA on children’s schooling and to determine the factors that influence their school level. Methods This is a cross-sectional study including patients with JIA (ILAR criteria). A detailed questionnaire was completed for each participant by interviewing them or their parents as well as by information obtained from their medical records. Collected data included age, sex, subtype of JIA, disease duration, level of disability according to the Childhood Heath Assessment Questionnaire (CHAQ), visual analogue scale for patient’s overall assessment of disease activity (VASOA), duration of morning stiffness, tender joint counts (TJCs), swollen joint counts (SJCs), erythrocyte sedimentation rate (ESR), C-Reactive Protein (CRP), Disease Activity Score (DAS28) for polyarticular and oligoarticular JIA, Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) for Enthesitis-related arthritis. Medications used for JIA treatment were also documented. Data on the school performance of patients and their siblings were obtained using telephone interviews (educational level, absenteeism, school delay by repetition, drop-out). Results A total of 43 patients with JIA were included, 25 female and 18 male, with a mean age of 26 years [12–51] and a mean disease duration of 237 months (5–496). The average age of the onset of the disease was 7.4 years [1.5–16]. The most common subtype was rheumatoid factor-positive polyarthritis (n = 18) followed by systematic (n = 8), oligoarticular (n = 8), rheumatoid factor-negative polyarthritis (n = 5) and Enthesitis-related arthritis (n = 4). The mean DAS28 was 3.02 [0.76 – 5.55] and the median CHAQ was 0.66 [0–3]. Twenty-nine of the children were receiving corticosteroid. Disease-modifying anti-rheumatic drugs were used by 38 of the 43 patients: methotrexate (n = 27), sulfasalazine (n = 8), leflunomide (n = 7), biotherapies (n = 16). Twenty patients had complications: Hip arthritis (n = 18), growth stunting (n = 14), uveitis (n = 5). Joint replacement was required in 11 cases. Four patients were illiterate, 14 had dropped out of school, 24 reported repeated absences due to illness. A year of schooling was repeated by 50.85% of patients. Eleven out of 32 patients over the age of 20 had an university level. Almost 80% of patients were exempted of physical education. There were no significant associations between the school-related problems, the socio-demographic characteristics and the various parameters of clinical and biological activity studied. Conclusion Our study suggested that JIA negatively affects schooling of children. More studies, with a larger sample of children, are needed to identify the variables associated with school failure in order to ensure the proper management of these patients and to increase their academic performance.


Rheumatology ◽  
2021 ◽  
Vol 60 (Supplement_5) ◽  
Author(s):  
Makhlouf Yasmine ◽  
Wafa Triki ◽  
Kaouther Maatallah ◽  
Hanene Ferjani ◽  
Dorra Ben Nessib ◽  
...  

Abstract Background Juvenile idiopathic arthritis (JIA) is characterized by a widely variable clinical course and outcome. If uncontrolled, joint damage may occur. In this context, coxitis is a feared complication. The aim of our study was to determine the prevalence and patterns of hip involvement in Tunisian JIA patients. Methods A retrospective study including children with JIA according to the International League of Associations for Rheumatology (ILAR)) was conducted between 2012and 2021. Sociodemographic data as well as disease characteristics were collected. Laboratory markers including erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were recorded. Hip involvement was assessed clinical exam and imaging (standard radiograph, ultrasound or magnetic resonance imaging (MRI)). We compared these parameters between the two groups: G1: presence of coxitis and G2: absence of coxitis. Results The study included 40 patients with a male predominance: sex ratio was 1.6. The mean age was 11.1 years-old [3–16]. The mean age at onset of the disease was 18.1 years old [8–30]. The distribution of the different subsets was as follows: polyarticular with rheumatoid factor (n = 1), polyarticular without rheumatoid factor (n = 2), enthesitis-related arthritis (n = 29), oligoarthritis (n = 7), psoriatic arthritis (n = 1). Extra-articular manifestations were found in 21.2% of cases: ocular (n = 4), pulmonary (n = 2) and cardiovascular (n = 1). The mean ESR and CRP was 30.9 mm/h [2–90] and 15.8 mg/l [1–70] respectively. A high ESR or CRP were found in 67% of cases. Hip involvement concerned 70% of the patients and was bilateral in 67.9% of them. Hip radiographs were normal in 50% of cases. Ultrasound was performed in 9 patients and revealed a positive Doppler synovitis (n = 2), a negative Doppler synovitis (n = 7) and joint effusion (n = 2). MRI was performed in 20% of cases and revealed synovitis (67%) and joint effusion (33%). Overall, 79.3% of patients had medical treatment combining NSAIDs and rehabilitation, 39% of the patients had had local infiltration with Hexatrione and only two patients had hip replacement. Hip involvement was not correlated with age at onset (P = 0.2), subtype (P = 0.8), sex (P = 0.7), extraarticular manifestations (P = 0.4). Similarly, there was no correlation between the presence of coxitis and ESR (P = 0.07) as well as CRP (P = 0.5). Conclusion Our study showed that hip involvement is frequent among Tunisian patients with JIA. Although not correlated with disease characteristics, hip involvement should be assessed frequently and carefully.


2015 ◽  
Vol 2015 ◽  
pp. 1-3
Author(s):  
Andrew D. Nelson ◽  
Philip R. Fischer ◽  
Ann M. Reed ◽  
Mark E. Wylam

We describe the development of rheumatoid factor-positive migratory polyarthritis in a 5-year-old male who had been administered bidaily oral mineral oil as a laxative since birth. Minor respiratory symptoms, radiographic and bronchoscopic findings were consistent with chronic lipoid pneumonia. We speculate that immune sensitization to mineral oil promoted the clinical syndrome of juvenile idiopathic arthritis.


2012 ◽  
Vol 10 (S1) ◽  
Author(s):  
Brooke E Gilliam ◽  
Melinda R Reed ◽  
Anil K Chauhan ◽  
Amanda Dehlendorf ◽  
Peri H Pepmueller ◽  
...  

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