Objectives
This paper aims to assess in a retrospective fashion the clinical and laboratory features, severity and outcome of juvenile systemic lupus erythematosus (jSLE) from a referral center in ...Turkey.
Methods
We have included all jSLE patients (n = 92) diagnosed according to the revised American College of Rheumatology 1997 criteria between January 2004 and January 2017.
Results
The most prevalent clinical feature in our cohort was mucocutaneous manifestations (97.8%), followed by constitutional (81.5%), hematological (59.8%) and musculoskeletal manifestations (56.5%). Renal involvement was observed in 38% (n = 35) of the patients, whereas biopsy-proven lupus nephritis was detected in 29.3% (n = 27) of the cohort. Neurologic involvement was seen in 15 (16.3%) individuals. Among the patients positive for anticardiolipin IgM and/or IgG (n = 11, 12%), only three developed antiphospholipid antibody syndrome. The mean SLEDAI-2K scores at disease onset (10.5 ± 4.8) showed a substantial decrease at last visit (4.3 ± 4.6). One-quarter of the patients (26.1%, n = 24) had damage according to the PedSDI criteria with a mean score of 0.45 ± 1.0 (range 0–7). When the PedSDI damage items were evaluated individually, growth failure was the most frequent damage criterion (n = 6), followed by seizure (n = 5). Two patients died during the designated study period of end-stage renal disease. The five-year and 10-year survival rate of our cohort was 100% and 94.4%, respectively.
Conclusions
Given the lower frequency of nephritis and central nervous system disease and lower basal disease activity and damage scores, we could conclude that children with jSLE in Turkey have a more favorable course compared to Asian and African American children, as expected from Caucasian ethnicity.
Systemic sclerosis (SSc) represents extremely rare disease with majority of data coming from adults. Studies comparing juvenile- (jSSc) and adult-onset (aSSc) patients are limited. We aimed to ...compare clinical features, treatment modalities and survival rates of jSSc and aSSc patients.
A retrospective study among pediatric and adult Scl patients has been performed. Demographic characteristics, clinical features, autoantibody profiles, and treatment data were retrieved from the databases. Survival analysis was done using Kaplan-Meier plot and factors associated with mortality were identified with multiple regression analysis.
A total of 158 adults and 58 juvenile Scl patients were identified. The mean age at the disease onset was 37±14.7 vs. 8.8 ± 4.1 years, mean age at diagnosis 42±15.2 vs. 10.4 ± 3.8 years and mean follow-up duration was 6.3 ± 4.9 years vs. 6.6 ± 4.9 years for aSSc and jSSc patients, respectively. The frequency of interstitial lung disease (ILD) (50.9% vs 30%, p<0.001) and systemic hypertension (17.9% vs 0, p = 0.009) was significantly higher among aSSc. While aSSc patients had presented mostly with limited cutaneous subset (74.1%), diffuse cutaneous subset was the dominant subset among jSSc (76.7%), (p<0.001). The mortality rate was significantly higher among adults (p = 0.005). The ILD (p = 0.03) and cardiac insufficiency (p = 0.05) were independent risk factors of mortality in both aSSc and jSSc patients.
Juvenile and adult-onset Scl represent rarely seen conditions with different clinical phenotypes. Pediatric patients with LS are more commonly seen by pediatric rheumatologists, in contrary to adults. Diffuse disease subset is the dominant form among juvenile patients, whereas limited form is the main disease subset among adults. On the other hand, juvenile-onset patients have a better survival than those with adult-onset.
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Objectives
Childhood-onset systemic lupus erythematosus (cSLE) is a multisystemic autoimmune disease characterized by inflammatory organ damage by means of vasculitis. Pentraxin-3 (PTX3) is expressed ...locally at the sites of inflammatory processes, predominantly from endothelial cells. In adult studies, PTX3 has shown to be an indicator of active vasculitis both in large-vessel and small-vessel vasculitides, as well as in SLE. Moreover, in SLE it has found to be correlated with disease activity, and with some of the clinical manifestations and laboratory parameters. We aimed to ascertain if PTX3 might be a significant mediator in cSLE and if it might indicate active vasculitis during the course of the disease.
Methods
Serum PTX3 levels were measured in 76 patients with cSLE and 41 healthy subjects. We have investigated its relation with disease activity, damage, clinical features, laboratory parameters and medications.
Results
Serum levels of PTX3 were found to be increased in cSLE compared to healthy controls (mean ± SD; 10.6 ± 8.2 ng/mL vs 2.7 ± 1.3 ng/mL, p < 0.001). PTX3 concentrations were also in correlation with SLEDAI-2K (r = 0.57, p < 0.001). When viewed from the clinical perspective, serum PTX3 levels were significantly higher only in patients with active vasculitis (p < 0.001), Raynaud phenomenon (p = 0.006) and mucocutaneous manifestations (p < 0.001). However, an association between PTX3 and age, age at disease onset, disease duration, complement levels, PedSDI score (pediatric version of the Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index), ESR, CRP, procalcitonin levels, anti-ds DNA antibody, anticardiolipin antibodies was not detected.
Conclusions
Patients with cSLE have increased levels of serum PTX3 compared to healthy controls. Thus, serum PTX-3 level might be a significant mediator in cSLE. Apart from these, the results support that PTX3 reflects active cutaneous vasculitis in cSLE and correlates with disease activity.
Objective: Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent short episodes (1-3 days) of inflammation and fever. FMF is associated with MEFV gene ...mutations but some patients with FMF symptoms do not have a mutation in the coding region of the MEFV gene. Vitamin D binding protein (VDBP) has important functions, including transporting vitamin D and its metabolites to target cells. Circulating levels of vitamin D are decreased in several inflammatory conditions, including FMF. Thus, we hypothesize that VDBP may play a crucial role in FMF pathogenesis, in addition to the MEFV gene.
Method: VDBP genotyping was performed by polymerase chain reaction (PCR)-restriction fragment length polymorphism in 107 FMF patients and 25 healthy individuals without FMF or family history. For this, after amplification of genomic DNA, PCR products were digested with restriction enzymes HaeIII and StyI and evaluated electrophoretically.
Results: We observed a statistically significant difference in the frequency of the 1F-2 genotype. The frequency of allele 2 was significantly higher and allele 1S was significantly lower compared to the MEFV(−) group and healthy controls (p = 0.034, 0.001, and 0.012, respectively). We observed a significant association between the presence of allele 2 and amyloidosis (p = 0.026) and arthritis (p = 0.044) in the MEFV(−) group.
Conclusion: Our results suggest that FMF symptoms in the absence of MEFV gene mutations may be due to the presence of VDBP allele 2. Therefore, VDBP genotype may explain the symptoms in FMF MEFV(−) patients.
BackgroundThe sensitivity and specificity of the ACR-1997 and SLICC-2012 classification criteria in juvenile-onset systemic lupus erythematosus (SLE) are already studied. In previous reports, the ...main limitations of the ACR-1997 and SLICC-2012 were low sensitivity and low specificity, respectively. To avoid misclassifications, a new set of classification criteria have been developed by the collaboration of the European League Against Rheumatism (EULAR) and the American College of Rheumatology (ACR) and the draft was presented at the 2017 ACR/ARHP Annual Meeting in San Diego, California. After application on 500 SLE patients and 500 controls, the sensitivity and specificity were found as 98% and 97%, respectively.ObjectivesTo compare the sensitivity of the new EULAR/ACR criteria with those of the 1997 American College of Rheumatology (ACR) criteria and 2012 Systemic Lupus International Collaborating Clinics criteria in juvenile-onset SLE patients.MethodsPatients initially were evaluated by ACR-1997, SLICC-2012 and EULAR/ACR classification criteria at baseline, when the diagnosis for the first time had been established by an expert paediatric rheumatologist (OK). All data were obtained from patient records. The diagnostic sensitivity of the three sets of classification criteria were further tested within 1 year of diagnosis and at last patient visit, longitudinally.ResultsA total of 104 juvenile-onset SLE patients were enrolled for the sensitivity performance of classification criteria at diagnosis. Since the follow-up period was less than 1 year, 12 subjects excluded after baseline evaluation. Finally, 92 subjects were eligible for sensitivity evaluation within 1 year of diagnosis and at last visit. The median age at diagnosis of clinician was 13.0 years (range 3.1–17.9 years, interquartile range (IQR) 11.1–16.5 years) with a median disease duration of 5.0 years (IQR 3.0–8.0 years). The female-to-male ratio was 4.7:1. The newly developed EULAR/ACR classification criteria were more sensitive than SLICC-2012 and ACR-1997 at diagnosis (93.3% versus 91.3% and 85.6%, respectively), and at first year (95.7% versus 94.6% and 90.2%, respectively (p>0.05). At last visit the sensitivity of the new set of criteria and SLICC-2012 were same (97.8%), but higher compared to ACR-1997 criteria (95.7%).ConclusionsJuvenile-onset systemic lupus erythematosus was classified by the newly proposed EULAR/ACR criteria with higher sensitivity compared with SLICC-2012 and ACR-1997 at disease onset and within one year of diagnosis. However, last visit assessment demonstrated equal sensitivity between new EULAR/ACR criteria and SLICC-2012. Although the difference was not significant, the new set of criteria seem to be capable of recruiting more children with juvenile SLE to clinical trials.Reference1 Johnson S. European League Against Rheumatism and American College of Rheumatology present new SLE classification criteria at the 2017 ACR/ARHP annual meeting. Presentation at: ACR/ARHP 2017 Annual Meeting; San Diego, CA 2017November 3–8.Disclosure of InterestNone declared
Background:Juvenile idiopathic arthritis (JIA) is a chronic autoimmune condition of unknown etiology. JIA combine with joint pain and inflammation that affects children who are less 16 years of age ...and continue more 6 weeks. JIA is a chronic inflammatory disease resulting in joints arthritis, pain and deformities. Disturbances in the posture may occur before deformities in patients with JIA. In some cases, pain can also lead to postural deterioration. Postural control is the ability to maintain equilibrium in a gravitational field by keeping or returning the center of body mass over its base of support.Objectives:The first purposes of this study was to assessed postural problems in patients with JIA and compared with healthy peers. The other objective was to examine the pain relationship with postural problems.Methods:19 patients with JIA aged 5–17 years (13 girls and 6boys) diagnosed according to ILAR classification criteria and 19 healthy controls were enrolled in this cross-sectional study. “PostureScreen Mobile®” was used to evaluate static posture, “11-point Numeric Analogue Scale (NRS)” was used to evaluate the pain (during rest, activity and exercise). The PostureScreen Mobile® an application facilitates the assessment of posture in a variety of settings. Anterior (Head, Shoulders, Ribcage, Hips) and lateral translation (Head, Shoulders, Hips, Knees) were recorded and calculated as a total score for anterior and lateral. For statistical analysis SPSS Version 21.0 program was used.Results:The mean age and body mass index of patients and healthy control were 10.79±3.59 and 10.68±2.86 years, 17.05±3.88, and 18.50±2.49 kg/m2, respectively. The mean of NRS-rest, activity and exercise scores were 1.18±1.42, 3±2.64 and 1.91±2.02, respectively. As a result of postural assessment for patients and healthy control, the mean of anterior translation scores was significantly higher in patients with JIA than healthy control (p=0.014) (table 1). Two significant correlations with NRS-rest between hip anterior translation (r=0.375, p=0.029) and ribcage anterior translation (r=-0.534, p=0.027) were found.Table 1Anterior and lateral translation in patients with JIA and healthy controlsJIA mean±SDHealthy controls mean±SDtp Anterior translation4.16±1.912.82±1.162.6020.014Lateral translation9.03±4.358.41±3.350.4900.627Conclusions:We found that children with JIA have minimal postural problems according to their healthy peers. At the same time, pain during rest is associated with anterior postural deterioration. Therefore in future researches, translations in the posture should be evaluated comprehensively in children with JIA for larger sample size. If it is not intervened in the early period, it may lead to overloading of joints and increased pain in later periods.Disclosure of Interest:None declared
BackgroundSystemic lupus erythematosus (SLE) is an autoimmune disease characterised by high-levels of autoantibodies mainly targeting nuclear antigens and loss of self-tolerance. ...Peroxisome-proliferator activated receptor gamma (PPARγ) and nuclear factor-kappa beta (NF-κB) are transcription factors, which, within normal levels, have shown to be crucial in immunomodulation namely, activation and development of normal lymphocytes, negative and positive selection of T and B cells. High-levels of NF-κB has inflammatory properties such as release of autoreactive T cells. On the contrary, PPARγ has anti-inflammatory effects, which has been demonstrated to be effective when used early in prevention of disease in murine models of systemic lupus erythematosus.ObjectivesHerein, we investigated whether NF-κB and PPARγ could exert opposite effects in the immune response and the possible implications in immunomodulation of juvenile systemic lupus erythematosus.MethodsSerum NF-κB and PPARγ levels were measured in 42 juvenile systemic lupus erythematosus. In addition,19 juvenile systemic sclerosis and 25 age-matched healthy children were selected for patient control and healthy control, respectively. We have also assessed the relation of these transcription factors with disease activity and anti-ds DNA.ResultsThe control group did not differ from the juvenile SLE and juvenile systemic sclerosis patients for age (p>0.05). According to our study, serum NF-κB levels of juvenile SLE and juvenile systemic sclerosis patients were significantly higher (1.87±1.0 and 2.17±1.0 versus 1.25±0.7), while serum PPARγ levels were significantly lower than that of healthy controls (1.58±0.6 and 1.52±0.5 versus 2.03±0.9). The difference was not significant between juvenile systemic lupus erythematosus and juvenile systemic sclerosis. In patients with juvenile systemic sclerosis serum NF-κB levels negatively correlated with serum PPARγ levels (R=−0.49; p=0.032); however, this relationship was not observed in juvenile SLE patients and healthy controls.ConclusionsIncreased serum NF-κB levels represent upregulated signalling cascades, so it is associated with increased levels of pro-inflammatory cytokines. Since juvenile systemic sclerosis and juvenile systemic lupus erythematosus are autoimmune diseases, patients had high levels of NF-κB and low levels of PPAR than controls, as expected. Previous studies revealed that PPARγ activation inhibits NF-κB transcriptional activity. Correlation results in juvenile systemic sclerosis cohort are compatible with this finding, however not in juvenile systemic lupus erythematosus patients. This could be due to the limited number of patients. Further studies with large number of patients are needed to better elucidate the implication of these transcription factors in therapeutic pathways.References1 Zubair A, Frieri M. NF-κB and systemic lupus erythematosus: examining the link. J Nephrol2013;26(6):953–9.2 Hayden MS, Ghosh S. NF-κB, the first quarter-century: Remarkable progress and outstanding questions. Genes Dev2012;26(3):203–234.3 Aprahamian TR, Bonegio RG, Weitzner Z, et al. Peroxisome proliferator-activated receptor gamma agonists in the prevention and treatment of murine systemic lupus erythematosus. Immunology2014;142(3):363–73.Disclosure of InterestNone declared
BackgroundJuvenile idiopathic arthritis (JIA) is one of the most common rheumatic diseases in childhood, affecting at least 1 in 1000 children. Children with JIA experience joint inflammation and ...swelling, pain and tenderness, morning stiffness, limited mobility. Children with JIA complain pain and have lower functional ability and decreased quality of life compared with their peers. Many studies have reported that patients with JIA have low physical activity levels and also exercise therapy is considered an important component of the treatment of JIA. Nowadays, studies for evaluating exercise behaviours in order to cope with physical inactivity for many chronic diseases are becoming increasingly important.ObjectivesThe objective of this study was to determine exercise behaviour in patients with JIA.Methods34 patients with JIA (23 female and 11 male), age range 5–18 years, home exercise program being recommended, participated in this study. The survey that was created with Google Forms was sent via WhatsApp to patients after 1 week-10 days than setting home based exercise program for each patient. In the survey, disease duration, involvement joint(s), Childhood Health Assessment Questionnaire (CHAQ) for functional ability, 11-point Numeric Analogue Scale (NRS) for satisfaction of exercising, Exercise Stages of Change Scale-Short Form (ESCS), Exercise Self-Efficacy Scale (ESES), and Decisional Balance Scale (DBS) for exercise behaviour were inquired for the patients with JIA.ResultsThe mean age and disease duration were 11.38±4.68 and 5.36±4.16 years, respectively. The mean of the number of affected joints was 5±4.41. According to the five behavioural processes by ESCS, the patients were enrolled 38.2% of them in the stage of maintenance, 26.5% of them in the stage of action, 14.7% of them in the stage of preparation, 14.7% of them in stage of contemplation, 5.9% of them in stage of pre-contemplation. 67.5% of them was satisfaction for exercising (≥5 for NRS). When comparison of the patients’ CHAQ scores due to satisfaction level with NRS, the mean of CHAQ scores was significantly lower in patients with high satisfaction than patients with low satisfaction (p=0.014). The mean of scores ESES and DBS were 17.06±6.13 and 12±4.61, respectively. All of the patients represented “positive perception of exercise” due to DBS. Only a significant correlation with age of patient and DBS was found (r=0.375, p=0.029).ConclusionsThis study demonstrated that patients with JIA were in high stages participated in exercising and have high self-efficacy of exercise, decreasing of functional ability may affect the satisfaction level of exercising and as age increases, decisional balance for exercising also increases. Therefore, future researchers should investigate potential facilitators of and barriers to exercise for larger population in patients with JIA by following up long term.Disclosure of InterestNone declared
BackgroundJuvenile idiopathic arthritis (JIA) is the most common chronic rheumatic disease in childhood, divided into several subgroups. The sJIA could be presented by monocyclic, polycyclic or ...persistent polyarticular clinical course. Macrophage activation syndrome (MAS) represents the most devastating complication that could appear during the disease course. Studies on follow up, treatment response and disease complications of the sJIA patients are spare and rare.ObjectivesTo evaluate demographic and clinical characteristics and to explore the long-term treatment response and disease complications in a large cohort of sJIA patients from the single centre.MethodsDemographic and clinical features of the sJIA patients were reached from the patients’s archives. The frequency of disease flares, treatment response and side effects were recorded for each patient.ResultsA total of 168 sJIA patients were included in the study: 87 (51.8) female, 81 (48.2) male. The clinical features are shown in table 1. Fifty-three (31.5) patients had monocyclic while 23 (13.7) patients had polycyclic clinical course (mean recurrency of attacks 2.5±2 (IQR:1–4)): in 38(.42 Poliarticular course was present in 92 (54.8) patients. Initially diagnosis of patients were: infection in 86 (51.1), sJIA in 34 (20.4), acute rheumatic fever in 19 (11.3), urticaria in 10 (5.9), Kawasaki disease in 4 (2.4) and juvenile systemic lupus erythematosus in 2 patients.The most common disease complications were: MAS in 20 (11.9), growth retardation in 19 (11.3) and vertebral fracture due to osteoporosis in 3 (1.9) patients. Gastrointestinal symptoms secondary to methotrexate intolerance that led to cessation of treatment were present in 9 (7.1) patients. Among 5 (2.9) patients that developed tuberculosis, 4 (2.3) were under etanercept treatment.All of the patients were treated with corticosteroids: a doses of 2 mg/kg/day in 118 (70.2) patients and pulse steroids in 50 (29.8) patients with severe clinical presentation. The methotrexate was used in 126 (75), leflunomide in 5 (3), cyclosporine A in 29 (17.3), intravenous immunoglobulin in 19 (11.3), anakinra in 27 (16.1), canakinumab in 27 (16.1), tocilizumab in 18 (10.7), etanercept in 50 (29.8) and adalimumab in 7 (4.2) patients. The median time to remission after the initial treatment with corticosteroids was 4 (IQR:2–4) months. The remission off medications was achieved in 82 (48.8) while remission on medications was achieved in 83 (49.4) of patients.Table: Demographic, clinical features of sJIAFemale/male87 (51.8)/81 (48.2) Mean age at disease onset76.7±54.5 months (IQR: 28–118)Mean age at diagnosis79,7±54.5 months (IQR: 33–121)Clinical features, n(%) – · Typical fever160 (95.2) – · Typical rash99(59) – · Lymphadenopathy 45 (26.8) – · Hepatosplenomegaly 70 (41.7) – · Arthritis/arthralgia 143 (85.1), 25 (14.9)ConclusionsSystemic JIA is a subtype of JIA characterised by significant morbidity and mortality rate with macrophage activation syndrome being the most severe disease complication. Corticosteroids represent the main treatment modality. Biological agents should be considered in the steroid-resistant patients. The clinical remission could be achieved and chronic arthritis sequelae could be prevented in a majority of patients with biological agents.Reference1 Barut K, Adrovic A, Sahin S, Kasapcopur O. Juvenile Idiopathic Arthritis. Balkan medical journal. 2017;34:90–101Disclosure of InterestNone declared
BackgroundThe cryopyrin-associated periodic syndrome (CAPS) is a treatable autoinflammatory disease that encompasses familial cold autoinflammatory syndrome(FCAS), Muckle–Wells syndrome(MWS), and ...chronic infantile, neurologic, cutaneous, and articular syndrome (CINCA), which are quite different in severity. Early diagnosis of CAPS and prompt initiation of IL-1 blockers have significant effect on the neurologic prognosis of CAPS. Although neurologic complications of CINCA are well-known, there are scarce date regarding neurologic features of milder phenotypes.ObjectivesWe aimed to review the neurologic features in detail and summarise the other CAPS-related manifestations in 9 children.MethodsAll children with CAPS that have been followed-up from paediatric rheumatology outpatient clinic, were enrolled to the study. In addition to the neurologic examination, magnetic resonance imaging (MRI) of brain, electroencephalography, eye examination, hearing test and neuropsychiatric tests were done. Demographic, clinical features, genetic analysis and laboratory tests were noted from patient records and hospital database.ResultsThe median age of the subjects was 6 years (range 2–14 years), with a female-to-male ratio 4/5. Most frequently noted neurologic clinical manifestations during the disease course were papilledema (3/9) and epilepsy (3/9), followed by neurodevelopmental delay (2/9), aseptic meningitis (2/9), upper motor neuron findings (2/9), ocular symptoms/signs (2/9), sensorineural hearing loss (1/9), optic atrophy (1/9) (table 1). MRI of the brain was abnormal in two patients.ConclusionsIncreased understanding and awareness of this rare but treatable syndrome among neurologists is essential, since the disease could manifest with neurologic manifestations such as seizure, papilledema, sensorineural deafness and aseptic meningitis. If remains untreated and recognised, this autoinflammatory syndrome could lead to significant morbidity and mortality. Hence, early treatment with anti-interleukin-1 therapy provides complete resolution of symptoms and, also prevent progression of neurologic findings when initiated in the late stage of the disease.Reference1 Eroglu FK, Kasapcopur O, Beşbaş N, et al. Genetic and clinical features of cryopyrin-associated periodic syndromes in Turkish children. Clin Exp Rheumatol;34: 115–120.Disclosure of InterestNone declaredAbstract AB1080 – Table 1Demographic, clinical, electroencephalography and neuroimaging features of CAPS patientsPatient 1Patient 2Patient 3Patient 4Patient 5Patient 6Patient 7Patient 8Patient 9 Age (years)1026431361214NLRP3 gene analysis resultQ703KNegativeG569RQ705KNegativeT433INegativeT436AA242ASensorineural hearing lossNoNoYes (Bilateral)NoNoNoNoNoNoUveitis or conjunctivitisNoNoNoNoNoNoNoYesYesPapilledemaYesNoNoNoYesNoNoNoYesOptic atrophyNoNoNoNoYesNoNoNoNoHeadacheYesNoNoNoNoYesNoNoYesSeizureYesNoYesNoYesNoNoNoYesMental retardationNoNoYesNoYesNoNoNoNoAseptic meningitisNoNoYesNoYesNoNoNoNoEEGNormalNormalFocal epileptiform activityNormalGeneralised fast rhythm and sharp-wave activityNormalNormalNormalNeuronal hyperexcitability in left temporal lobeCranial MRInormalnormalDiffuse parenchymal atrophy, hydrocephalusnormalGlobal cortical atrophy, sequela lesionsnormalnormalnormalNormal
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