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1.
Am J Hum Genet ; 108(1): 84-99, 2021 01 07.
Artigo em Inglês | MEDLINE | ID: mdl-33308445

RESUMO

Takayasu arteritis is a rare inflammatory disease of large arteries. We performed a genetic study in Takayasu arteritis comprising 6,670 individuals (1,226 affected individuals) from five different populations. We discovered HLA risk factors and four non-HLA susceptibility loci in VPS8, SVEP1, CFL2, and chr13q21 and reinforced IL12B, PTK2B, and chr21q22 as robust susceptibility loci shared across ancestries. Functional analysis proposed plausible underlying disease mechanisms and pinpointed ETS2 as a potential causal gene for chr21q22 association. We also identified >60 candidate loci with suggestive association (p < 5 × 10-5) and devised a genetic risk score for Takayasu arteritis. Takayasu arteritis was compared to hundreds of other traits, revealing the closest genetic relatedness to inflammatory bowel disease. Epigenetic patterns within risk loci suggest roles for monocytes and B cells in Takayasu arteritis. This work enhances understanding of the genetic basis and pathophysiology of Takayasu arteritis and provides clues for potential new therapeutic targets.


Assuntos
Predisposição Genética para Doença/genética , Arterite de Takayasu/genética , Estudos de Casos e Controles , Feminino , Estudo de Associação Genômica Ampla/métodos , Humanos , Doenças Inflamatórias Intestinais/genética , Masculino , Polimorfismo de Nucleotídeo Único/genética
2.
Semin Arthritis Rheum ; 50(6): e2, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33023752
4.
Arch Rheumatol ; 35(2): 254-258, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32851375

RESUMO

Objectives: This study aims to investigate the prevalence of inflammatory back pain (IBP) and sacroiliitis in a systemic lupus erythematosus (SLE) population as well as the association between IBP and the frequency of human leukocyte antigen B27 (HLA-B27). Patients and methods: The study included 281 SLE patients (16 males, 265 females; mean age 39.9±11.9 years; range, 20 to 69 years) and 100 healthy controls (HCs) (2 males, 98 females; mean age 41.2±10.1 years; range, 19 to 64 years). Participants were administered a five-item Assessment of SpondyloArthritis international Society-IBP questionnaire. Patients and controls with IBP underwent detailed clinical and laboratory examinations to detect sacroiliitis. Radiographic evaluations were performed by a blinded rheumatologist and radiologist. Interobserver reliability was assessed with Cohen's kappa test. Results: According to the questionnaire, IBP was present in 46 SLE patients (46/281; 16.3%) whereas none of the HC had IBP (p<0.001). In radiological assessment, 22 SLE patients (7.8%) had sacroiliitis detected by conventional X-ray and/or magnetic resonance imaging. Only one SLE patient with sacroiliitis had HLA-B27. Conclusion: Our study showed that IBP is increased in SLE patients and IBP in SLE is not associated with HLA-B27.

5.
Clin Exp Rheumatol ; 2020 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-32662407

RESUMO

OBJECTIVES: To explore the impact of early versus late-onset psoriasis (PsO) on the disease characteristics of psoriatic arthritis (PsA) in a large-multicentre cohort. METHODS: The data from a multicentre psoriatic arthritis database was analysed. Patients were grouped according to age at psoriasis onset (early onset; <40 years of age, late-onset; >40 years of age) and disease characteristics of the groups were compared by adjusting for BMI and PsA duration, where necessary. RESULTS: At the time of analyses, 1634 patients were recruited [62.8% females; early onset 1108 (67.8%); late-onset, 526 (32.2%)]. The late-onset group was more over-weight [66.8% vs. 86.8%, p<0.001; adjusted for age - aOR 1.55 (1.11-2.20; 95% CI)]. The early onset group had more scalp psoriasis at onset (56.7% vs. 43.0%, p<0.001), whereas extremity lesions were more common in the late-onset group (63.8% vs. 74.2%, p<0.001). Axial disease in males and psoriatic disease family history in females were significantly higher in the early onset group [38.0% vs. 25.4%; p=0.005; adjusted for PsA duration - aOR 1.76 (1.19-2.62; 95% CI) / 39.5% vs. 30.1%; p=0.003; OR 1.51 (1.15-1.99; 95% CI), respectively]. Psoriatic disease activity parameters, patient-physician reported outcomes and HAQ-DI scores were similar in both groups. CONCLUSIONS: Clinical features of PsA may be affected by the age at onset of PsO. Different genetic backgrounds in early and late-onset PsO may be driving the differences in psoriasis and PsA phenotypes.

6.
Int J Rheum Dis ; 23(8): 1094-1099, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32567814

RESUMO

OBJECTIVE: Joints with different sizes and anatomical locations can be affected in psoriatic arthritis (PsA). Our aim was to explore the effect of different joint patterns on patient-reported outcomes (PROs) in patients with mono-oligoarthritis. METHODS: Within PsArt-ID (Psoriatic Arthritis- International Database), 387/1670 patients who had mono-oligoarthritis (1-4 tender and swollen joints) were enrolled in cross-sectional assessment. The joints were categorized according to their size (small/large) and location (upper/lower extremity) and PROs, physician global assessment and C-reactive protein (CRP) were compared. Analysis was made by categorizing according to joint counts (1-2 joints/ 3-4 joints). RESULTS: The mean age (SD) was 46.9 (14.24) with a mean (SD) PsA duration of 3.93 (6.03) years. Within patients with 1-2 involved joints (n = 302), size of the joints only had an impact on CRP values with large joints having higher CRP (P = .005), similar to lower extremity involvement (P = .004). PROs were similar regardless of size or location if 1-2 joints were inflamed. Within patients with 3-4 involved joints (n = 85), patient global assessment (PGA), pain, fatigue and physician global assessment were higher in the group with large joints. Similarly, PGA, pain, and physician global assessment were higher in patients with lower extremity involvement as well as higher CRP values. CONCLUSION: For PsA patients with 3-4 joints involved, lower extremity and large joints are associated with poorer outcomes with worse PROs, physician global assessment, and higher CRP. The size and anatomical location of the joints are less important for patients with 1-2 joints in terms of the PROs.

7.
Semin Arthritis Rheum ; 50(6): 1387-1393, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32229040

RESUMO

OBJECTIVE: Detailed analysis of hematological manifestations (HM) in systemic lupus erythematosus (SLE) are limited and their clinical impact on disease remain obscure. Here, we aimed to decipher factors associated with different hematological abnormalities in SLE patients and to assess their impact on disease related outcomes. METHODS: A dataset (GIPT) originating from SLE patients of six European tertiary centers was assessed. Six-monthly visits of each patient for at least 2 years were registered. The association between hematologic manifestations (HM; per ACR-1997criteria) and clinical/serologic variables, as well as the impact of HM on disease related outcomes (damage, infection and hemorrhage) were explored. Scores on the Systemic Lupus Erythematosus Disease Activity Index 2000(SLEDAI2K), the Systemic Lupus International Collaborating Clinics (SLICC)/American College of Rheumatology (ACR) Damage Index (SDI) and events for any infection and hemorrhage were recorded. Results were compared with a cross-sectional, well-characterized SLE dataset from Sweden. Descriptive statistics, the generalized estimating equations (GEE), general linear models (GLM), Cox regression models were applied. RESULTS: We monitored 1425 longitudinal visits in 286 SLE patients with HM (GIPT dataset: 88% female, 95% Caucasian, 68% dsDNA positive). Thrombocytopenia (regression coefficient [95% confidence interval] 1.86[1.1-3.13]) and neurologic involvement (ACR-8) (2.1[1.10-3.89]) were associated with lymphopenia (<1000/mm3); the latter was an independent predictor of organ damage accrual (1.68[1.2-2.62]). These associations were confirmed in an independent dataset of 1348 SLE patients (86% female, 93% Caucasian, 61% dsDNA positive) in Sweden.Severe lymphopenia (<500/mm3) and severe thrombocytopenia (<20 K/mm3) were associated with increased risk for infection (hazard ratio [95% confidence interval] 2.56[1.23-5.31]) and hemorrhage (4.38[2.10-11.1]), respectively, independent of the effect of other predictors. CONCLUSION: Lymphopenia in SLE is independently associated with neurologic involvement and organ damage accrual, and thus, may be considered as a marker of severe/progressive disease.

8.
Eur J Rheumatol ; 7(2): 64-67, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31922480

RESUMO

OBJECTIVE: Our aim is to test the validity of the Psoriasis Symptom Inventory (PSI), a patient-reported outcome, to assess the psoriasis severity within the scope of rheumatology. METHODS: Within the PsA international database (PSART-ID), 571 patients had PSI, while 322 of these also showed body surface area (BSA). Correlations between PSI, BSA, and other patient- and physician-reported outcomes were investigated. RESULTS: There was a good correlation between PSI and BSA (r=0.546, p<0.001), which was even higher for mild psoriasis (BSA<3 (n=164): r=0.608, p<0.001). PSI significantly correlated with fatigue, pain, and patient and physician global parameters (p<0.001). CONCLUSION: PSI has a good correlation with other patient- and physician-reported outcomes, and our findings support its use in rheumatology practice.

10.
Arthritis Care Res (Hoboken) ; 72(1): 63-68, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-30680951

RESUMO

OBJECTIVE: Psoriatic arthritis (PsA) has a genetic background. Approximately 40% of patients with psoriasis or PsA have a family history of psoriasis or PsA, which may affect disease features. The aim of this study was to assess the effects of family history of psoriasis and PsA on disease phenotypes. METHODS: Data from 1,393 patients recruited in the longitudinal, multicenter Psoriatic Arthritis International Database were analyzed. The effects of family history of psoriasis and/or PsA on characteristics of psoriasis and PsA were investigated using logistic regression. RESULTS: A total of 444 patients (31.9%) had a family history of psoriasis and/or PsA. These patients were more frequently women, had earlier onset of psoriasis, more frequent nail disease, enthesitis, and deformities, and less frequently achieved minimal disease activity. Among 444 patients, 335 only had psoriasis in their family, 74 had PsA, and 35 patients were not certain about having PsA and psoriasis in their family, so they were excluded from further analysis. In the multivariate analysis, family history of psoriasis was associated with younger age at onset of psoriasis (odds ratio [OR] 0.976) and presence of enthesitis (OR 1.931), whereas family history of PsA was associated with lower risk of plaque psoriasis (OR 0.417) and higher risk of deformities (OR 2.557). Family history of PsA versus psoriasis showed increased risk of deformities (OR 2.143) and lower risk of plaque psoriasis (OR 0.324). CONCLUSION: Family history of psoriasis and PsA impacts skin phenotypes, musculoskeletal features, and disease severity. The link between family history of psoriasis/PsA and pustular/plaque phenotypes may point to a different genetic background and pathogenic mechanisms in these subsets.


Assuntos
Artrite Psoriásica/genética , Predisposição Genética para Doença , Anamnese/métodos , Psoríase/genética , Sistema de Registros , Adulto , Artrite Psoriásica/diagnóstico , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Estudos Prospectivos , Psoríase/diagnóstico , Fatores de Risco , Pele/patologia
11.
Eur J Rheumatol ; 6(2): 89-93, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-31365343

RESUMO

OBJECTIVE: Silent myocardial involvement is associated with poor prognosis in patients with systemic sclerosis (SSc). Here we aimed to evaluate the subclinical left ventricular (LV) and right ventricular (RV) systolic dysfunction in patients with SSc without any cardiovascular diseases, by using both strain imaging methods, speckle tracking echocardiography (STE) and real-time 3D echocardiography (RT3DE). METHODS: A total of 47 patients with SSc and 20 age- and gender-matched healthy controls (HC) were studied. Conventional echocardiography, STE-based strain imaging, and real-time 3D echocardiography (Bothell, WA, USA) were performed to assess the biventricular deformation. Clinical and serological findings were sought. RESULTS: Conventional echocardiographic LV measurements were similar between SSc and HC. Both the LV and RV longitudinal peak systolic strain/strain rates were significantly impaired in SSc, demonstrating subclinical LV and RV systolic dysfunction (p≤0.001). Systolic pulmonary artery pressure (SPAP) was negatively correlated with both the LV and RV longitudinal peak systolic strain/strain rates (LV, r=-0.554 and r=-0.642, respectively, p<0.001; and RV, r=-0.554 and r=-0.642, respectively, p=0.001). There was a trend for decreasing LV strain and increasing LEVSV in a 1-year analysis of patients with SSc. CONCLUSION: SSc is associated with myocardial systolic dysfunction. A deformation scrutiny conducted by both the STE-based strain imaging and end-systolic LV volume analysis by real-time 3D echocardiography are promising modalities that allow us for non-invasive, comprehensive investigation of subtle deterioration in the biventricular systolic function of patients with SSc.

12.
Ann Rheum Dis ; 78(7): 979-987, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-30967395

RESUMO

OBJECTIVE: To assess the safety and efficacy of rituximab in systemic sclerosis (SSc) in clinical practice. METHODS: We performed a prospective study including patients with SSc from the European Scleroderma Trials and Research (EUSTAR) network treated with rituximab and matched with untreated patients with SSc. The main outcomes measures were adverse events, skin fibrosis improvement, lung fibrosis worsening and steroids use among propensity score-matched patients treated or not with rituximab. RESULTS: 254 patients were treated with rituximab, in 58% for lung and in 32% for skin involvement. After a median follow-up of 2 years, about 70% of the patients had no side effect. Comparison of treated patients with 9575 propensity-score matched patients showed that patients treated with rituximab were more likely to have skin fibrosis improvement (22.7 vs 14.03 events per 100 person-years; OR: 2.79 [1.47-5.32]; p=0.002). Treated patients did not have significantly different rates of decrease in forced vital capacity (FVC)>10% (OR: 1.03 [0.55-1.94]; p=0.93) nor in carbon monoxide diffusing capacity (DLCO) decrease. Patients having received rituximab were more prone to stop or decrease steroids (OR: 2.34 [1.56-3.53], p<0.0001). Patients treated concomitantly with mycophenolate mofetil had a trend for better outcomes as compared with patients receiving rituximab alone (delta FVC: 5.22 [0.83-9.62]; p=0.019 as compared with controls vs 3 [0.66-5.35]; p=0.012). CONCLUSION: Rituximab use was associated with a good safety profile in this large SSc-cohort. Significant change was observed on skin fibrosis, but not on lung. However, the limitation is the observational design. The potential stabilisation of lung fibrosis by rituximab has to be addressed by a randomised trial.


Assuntos
Antirreumáticos/uso terapêutico , Rituximab/uso terapêutico , Escleroderma Sistêmico/tratamento farmacológico , Adulto , Idoso , Feminino , Fibrose , Humanos , Pulmão/patologia , Masculino , Pessoa de Meia-Idade , Pontuação de Propensão , Estudos Prospectivos , Fibrose Pulmonar/tratamento farmacológico , Fibrose Pulmonar/etiologia , Sistema de Registros , Testes de Função Respiratória , Escleroderma Sistêmico/complicações , Escleroderma Sistêmico/patologia , Pele/patologia , Resultado do Tratamento , Capacidade Vital
13.
Rheumatology (Oxford) ; 58(2): 289-298, 2019 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-30247649

RESUMO

Objectives: SSc is an autoimmune disease characterized by alteration of the immune response, vasculopathy and fibrosis. Most genetic studies on SSc have been performed in European-ancestry populations. The aim of this study was to analyse the genetic component of SSc in Middle Eastern patients from Iran and Turkey through a genome-wide association study. Methods: This study analysed data from a total of 834 patients diagnosed with SSc and 1455 healthy controls from Iran and Turkey. DNA was genotyped using high-throughput genotyping platforms. The data generated were imputed using the Michigan Imputation Server, and the Haplotype Reference Consortium as a reference panel. A meta-analysis combining both case-control sets was conducted by the inverse variance method. Results: The highest peak of association belonged to the HLA region in both the Iranian and Turkish populations. Strong and independent associations between the classical alleles HLA-DRB1*11: 04 [P = 2.10 × 10-24, odds ratio (OR) = 3.14] and DPB1*13: 01 (P = 5.37 × 10-14, OR = 5.75) and SSc were observed in the Iranian population. HLA-DRB1*11: 04 (P = 4.90 × 10-11, OR = 2.93) was the only independent signal associated in the Turkish cohort. An omnibus test yielded HLA-DRB1 58 and HLA-DPB1 76 as relevant amino acid positions for this disease. Concerning the meta-analysis, we also identified two associations close to the genome-wide significance level outside the HLA region, corresponding to IRF5-TNPO3 rs17424921-C (P = 1.34 × 10-7, OR = 1.68) and NFKB1 rs4648133-C (P = 3.11 × 10-7, OR = 1.47). Conclusion: We identified significant associations in the HLA region and suggestive associations in IRF5-TNPO3 and NFKB1 loci in Iranian and Turkish patients affected by SSc through a genome-wide association study and an extensive HLA analysis.


Assuntos
Escleroderma Sistêmico/genética , Alelos , Estudos de Casos e Controles , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Genótipo , Cadeias beta de HLA-DP/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Teste de Histocompatibilidade/métodos , Humanos , Fatores Reguladores de Interferon/genética , Irã (Geográfico)/epidemiologia , Polimorfismo Genético , Escleroderma Sistêmico/etnologia , Turquia/epidemiologia
14.
Clin Rheumatol ; 37(12): 3443-3448, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29948352

RESUMO

Psoriatic arthritis (PsA) may affect different joints, including the spine. The prevalence of spinal involvement is variable depending on the definition and a subset of patients have been identified in cohorts that do not have clinical features of axial disease and yet have imaging findings. Still, there is not a consensus on how and when to screen axial disease. In this study, we aimed to investigate factors associated with being underdiagnosed for axial psoriatic arthritis (axPsA) and its impacts on outcomes. Disease features and outcomes of axPsA according to the physician (n = 415) were compared with patients with imaging findings only (sacroiliitis fulfilling the modified New York criteria, n = 112), using data from a real-life PsA registry. Patients with imaging findings only were more frequently women (83/220 (37.7%) vs 29/122 (23.8%); p = 0.008). This group also had higher peripheral disease activity (imaging only vs clinical AxPsA: mean (SD) tender joint count 5.3 (6.1) vs 3.3 (4.7), swollen joint count 1.9 (2.9) vs 1.2 (2.4); p < 0.001 for both comparisons) and was less often treated using TNF inhibitors (16.1 vs 38.2%; p < 0.001) than patients who were classified as axPsA. Patient-reported outcomes were similar in both groups. PsA patients, especially women with more severe peripheral disease, have a higher risk of being underdiagnosed for axPsA. The severity of peripheral symptoms may be a risk factor to mask the spinal features of PsA.


Assuntos
Artrite Psoriásica/diagnóstico por imagem , Sacroileíte/diagnóstico por imagem , Adulto , Artrite Psoriásica/complicações , Artrografia , Feminino , Humanos , Inflamação , Masculino , Pessoa de Meia-Idade , Medidas de Resultados Relatados pelo Paciente , Prevalência , Radiografia , Sistema de Registros , Reprodutibilidade dos Testes , Reumatologia/normas , Fatores de Risco , Sacroileíte/complicações , Índice de Gravidade de Doença , Coluna Vertebral/diagnóstico por imagem , Resultado do Tratamento , Turquia/epidemiologia
15.
Rheumatology (Oxford) ; 57(3): 441-450, 2018 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-28499034

RESUMO

Objectives: The multisystem manifestations of SSc can greatly impact patients' quality of life. The aim of this study was to identify factors associated with disability in SSc. Methods: SSc patients from the prospective DeSScipher cohort who had completed the scleroderma health assessment questionnaire (SHAQ), a disability score that combines the health assessment questionnaire and five visual analogue scales, were included in this analysis. The effect of factors possibly associated with disability was analysed with multiple linear regressions. Results: The mean SHAQ and HAQ scores of the 944 patients included were 0.87 (s.d. = 0.66) and 0.92 (s.d. = 0.78); 59% of the patients were in the mild to moderate difficulty SHAQ category (0 ⩽ SHAQ < 1), 34% in the moderate to severe disability category (1 ⩽ SHAQ < 2) and 7% in the severe to very severe disability category (2 ⩽ SHAQ ⩽ 3). The means of the visual analogue scales scores were in order of magnitude: overall disease severity (37 mm), RP (31 mm), pulmonary symptoms (24 mm), gastrointestinal symptoms (20 mm) and digital ulcers (19 mm). In multiple regression, the main factors associated with high SHAQ scores were the presence of dyspnoea [modified New York Heart Association (NYHA) class IV (regression coefficient B = 0.62), modified NYHA class III (B = 0.53) and modified NYHA class II (B = 0.21; all vs modified NYHA class I)], FM (B = 0.37), muscle weakness (B = 0.27), digital ulcers (B = 0.20) and gastrointestinal symptoms (oesophageal symptoms, B = 0.16; stomach symptoms, B = 0.15; intestinal symptoms, B = 0.15). Conclusion: SSc patients perceive dyspnoea, pain, digital ulcers, muscle weakness and gastrointestinal symptoms as the main factors driving their level of disability, unlike physicians who emphasize objective measures of disability.


Assuntos
Atividades Cotidianas , Avaliação da Deficiência , Qualidade de Vida , Escleroderma Sistêmico/fisiopatologia , Perfil de Impacto da Doença , Europa (Continente) , Gastroenteropatias/etiologia , Gastroenteropatias/fisiopatologia , Humanos , Hipertensão Pulmonar/etiologia , Hipertensão Pulmonar/fisiopatologia , Estudos Longitudinais , Debilidade Muscular/etiologia , Debilidade Muscular/fisiopatologia , Medição da Dor , Estudos Prospectivos , Análise de Regressão , Fatores de Risco , Escleroderma Sistêmico/complicações , Escleroderma Sistêmico/psicologia , Índice de Gravidade de Doença , Úlcera Cutânea/etiologia , Úlcera Cutânea/fisiopatologia
16.
Arthritis Care Res (Hoboken) ; 70(7): 1090-1094, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-28992387

RESUMO

OBJECTIVE: Approximately 30-45% of patients with familial Mediterranean fever (FMF) have been reported to have attacks despite colchicine treatment. Currently, data on the treatment of colchicine-unresponsive or colchicine-intolerant FMF patients are limited; the most promising alternatives seem to be anti-interleukin-1 (anti-IL-1) agents. Here we report our experience with the off-label use of anti-IL-1 agents in a large group of FMF patients. METHODS: In all, 21 centers from different geographical regions of Turkey were included in the current study. The medical records of all FMF patients who had used anti-IL-1 treatment for at least 6 months were reviewed. RESULTS: In total, 172 FMF patients (83 [48%] female, mean age 36.2 years [range 18-68]) were included in the analysis; mean age at symptom onset was 12.6 years (range 1-48), and the mean colchicine dose was 1.7 mg/day (range 0.5-4.0). Of these patients, 151 were treated with anakinra and 21 with canakinumab. Anti-IL-1 treatment was used because of colchicine-resistant disease in 84% and amyloidosis in 12% of subjects. During the mean 19.6 months of treatment (range 6-98), the yearly attack frequency was significantly reduced (from 16.8 to 2.4; P < 0.001), and 42.1% of colchicine-resistant FMF patients were attack free. Serum levels of C-reactive protein, erythrocyte sedimentation rate, and 24-hour urinary protein excretion (5,458.7 mg/24 hours before and 3,557.3 mg/24 hours after) were significantly reduced. CONCLUSION: Anti-IL-1 treatment is an effective alternative for controlling attacks and decreasing proteinuria in colchicine-resistant FMF patients.


Assuntos
Sistemas de Liberação de Medicamentos/métodos , Febre Familiar do Mediterrâneo/tratamento farmacológico , Febre Familiar do Mediterrâneo/epidemiologia , Interleucina-1/administração & dosagem , Uso Off-Label , Adolescente , Adulto , Idoso , Febre Familiar do Mediterrâneo/diagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do Tratamento , Turquia/epidemiologia , Adulto Jovem
17.
Open Rheumatol J ; 11: 1-9, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28400866

RESUMO

BACKGROUND: Radiographic severity of ankylosing spondylitis (AS) shows such great variance that some patients never develop syndesmophytes throughout the entire disease span, whereas some develop bamboo spine relatively early. OBJECTIVE: To study the association between ERAP1, IL23R and PTGER4 single nucleotide polymorphisms (SNPs) and radiographic severity in AS patients. METHODS: rs27044 and rs30187 (ERAP1), rs11209032 (IL23R) and rs10440635 (PTGER4) SNPs were genotyped in 235 AS patients fulfilling the modified New York criteria. Patients were classified as mild- and severe-AS according to modified Stoke AS spinal score (mSASSS). Mild-AS is defined as having mSASSS of "0" following at least 10 years of disease duration. Severe-AS is defined as having mSASSS of >20 (patients with mild vertebral changes (i.e. squaring or erosions) were omitted for clear stratification) regardless of disease duration. RESULTS: The genotype distributions and allele frequencies of ERAP1 rs27044 and rs30187, IL23R rs11209032 and PTGER4 rs10440635 SNPs were similar in mild- (n=171, mSASSS=0, 55.6% HLA-B27 positive) and severe-AS patients (n=64, mSASSS=48.5±17.8, 73.4% HLA-B27 positive). After adjustment for clinical differences between groups (gender, disease duration, HLA-B27 and smoking status) by logistic regression analysis, none of the alleles in the investigated SNPs were found to be associated with radiographic severity of AS. CONCLUSION: In radiographically well-categorized AS patients, ERAP1 rs27044 and rs30187, IL23R rs11209032 and PTGER4 rs10440635 SNPs are not found to be associated with radiographic severity of AS.

18.
Rheumatol Int ; 37(5): 675-684, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28289872

RESUMO

Patients with primary Sjogren's syndrome (pSS) may go undiagnosed or be misclassified due to the insidious nature and wide spectrum of the disease. The available several classification criteria emphasize glandular findings. We aimed to analyze the efficiency of various classification criteria sets in patients diagnosed on the clinical basis by expert opinion and to compare those pSS patients who fulfilled these criteria with those who did not. This is a multicenter study in which 834 patients from 22 university-based rheumatology clinics are included. Diagnosis of pSS was made on the clinical basis by the expert opinion. In this study, we only interviewed patients once and collected available data from the medical records. The European criteria, American-European Consensus Group (AECG) and American College of Rheumatology (ACR) Sjogren's criteria were applied. Majority of the patients were women (F/M was 20/1). The median duration from the first pSS-related symptom to diagnosis was significantly shorter in men (2.5 ± 2.3 vs 4.3 ± 5.9 years) (p = 0 < 0.016). When the European, AECG and ACR Sjogren's criteria were applied, 666 patients (79.9%) satisfied at least one of them. In total, 539 patients (64.4%) satisfied the European, 439 (52.6%) satisfied the AECG, and 359 (43%) satisfied the ACR criteria. Among the entire group, 250 patients (29.9%) satisfied all and 168 (20.1%) met none of the criteria. The rates of extraglandular organ involvements were not different between patients who met at least one of the criteria sets and those who met none. There is an urgent need for the modification of the pSS criteria sets to prevent exclusion of patients with extraglandular involvements as the dominant clinical features.


Assuntos
Síndrome de Sjogren/diagnóstico , Avaliação de Sintomas , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reumatologia , Adulto Jovem
19.
Rheumatology (Oxford) ; 56(2): 279-286, 2017 02.
Artigo em Inglês | MEDLINE | ID: mdl-27794533

RESUMO

OBJECTIVE: The aim was to assess the characteristics of PsA, find out how well the disease is controlled in real life, demonstrate the treatments and identify the unmet needs. METHODS: The PsA registry of Turkey is a multicentre Web-based registry established in 2014 and including 32 rheumatology centres. Detailed data regarding demographics for skin and joint disease, disease activity assessments and treatment choices were collected. RESULTS: One thousand and eighty-one patients (64.7% women) with a mean (sd) PsA duration of 5.8 (6.7) years were enrolled. The most frequent type of PsA was polyarticular [437 (40.5%)], followed by oligoarticular [407 (37.7%)] and axial disease [372 (34.4%)]. The mean (sd) swollen and tender joint counts were 1.7 (3) and 3.6 (4.8), respectively. Of these patients, 38.6% were on conventional synthetic DMARD monotherapy, 7.1% were on anti-TNF monotherapy, and 22.5% were using anti-TNF plus conventional synthetic DMARD combinations. According to DAS28, 86 (12.4%) patients had high and 105 (15.2%) had moderate disease activity. Low disease activity was achieved in 317 (45.7%) patients, and 185 (26.7%) were in remission. Minimal disease activity data could be calculated in 247 patients, 105 of whom (42.5%) had minimal disease activity. The major differences among sexes were that women were older and had less frequent axial disease, more fatigue, higher HAQ scores and less remission. CONCLUSION: The PsA registry of Turkey had similarities with previously published registries, supporting its external validity. The finding that women had more fatigue and worse functioning as well as the high percentage of active disease state highlight the unmet need in treatment of PsA.


Assuntos
Antirreumáticos/uso terapêutico , Artrite Psoriásica/tratamento farmacológico , Necessidades e Demandas de Serviços de Saúde , Sistema de Registros , Atividades Cotidianas , Adulto , Distribuição por Idade , Artrite Psoriásica/complicações , Artrite Psoriásica/epidemiologia , Artrite Psoriásica/fisiopatologia , Fadiga/etiologia , Fadiga/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Medidas de Resultados Relatados pelo Paciente , Indução de Remissão , Índice de Gravidade de Doença , Distribuição por Sexo , Fator de Necrose Tumoral alfa/antagonistas & inibidores , Turquia/epidemiologia
20.
J Rheumatol ; 43(7): 1376-9, 2016 07.
Artigo em Inglês | MEDLINE | ID: mdl-27134258

RESUMO

OBJECTIVE: To evaluate the genetic background of systemic sclerosis (SSc) in the Turkish population. METHODS: There were 354 cases and 718 unaffected controls from Turkey genotyped for the most relevant SSc genetic markers (IRF5-rs10488631, STAT4-rs3821236, CD247-rs2056626, DNASE1L3-rs35677470, IL12A-rs77583790, and ATG5-rs9373839). Association tests were conducted to identify possible associations. RESULTS: Except for ATG5, all the analyzed genes showed either significant associations (IRF5: p = 1.32E-05, OR 1.76; CD247: p = 2.20E-03, OR 0.75) or trends of association (STAT4: p = 0.066, OR 1.21; IL12A: p = 0.079, OR 4.07; DNASE1L3: p = 0.097, OR 1.41) with the overall disease or with specific phenotypes. CONCLUSION: The genetic component of SSc seems to be similar between Turks and Europeans.


Assuntos
Alelos , Predisposição Genética para Doença , Genótipo , Fenótipo , Escleroderma Sistêmico/genética , Adulto , Proteína 5 Relacionada à Autofagia/genética , Complexo CD3/genética , Estudos de Casos e Controles , Endodesoxirribonucleases/genética , Feminino , Frequência do Gene , Estudos de Associação Genética , Humanos , Fatores Reguladores de Interferon/genética , Subunidade p35 da Interleucina-12/genética , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Fator de Transcrição STAT4/genética , Turquia
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