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1.
PLoS Genet ; 15(4): e1008038, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30946743

RESUMO

Ankylosing spondylitis (AS) is a highly heritable immune-mediated arthritis common in Turkish and Iranian populations. Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disease most common in people of Mediterranean origin. MEFV, an FMF-associated gene, is also a candidate gene for AS. We aimed to identify AS susceptibility loci and also examine the association between MEFV and AS in Turkish and Iranian cohorts. We performed genome-wide association studies in 1001 Turkish AS patients and 1011 Turkish controls, and 479 Iranian AS patients and 830 Iranian controls. Serum IL-1ß, IL-17 and IL-23 cytokine levels were quantified in Turkish samples. An association of major effect was observed with a novel rare coding variant in MEFV in the Turkish cohort (rs61752717, M694V, OR = 5.3, P = 7.63×10(-12)), Iranian cohort (OR = 2.9, P = 0.042), and combined dataset (OR = 5.1, P = 1.65×10(-13)). 99.6% of Turkish AS cases, and 96% of those carrying MEFV rs61752717 variants, did not have FMF. In Turkish subjects, the association of rs61752717 was particularly strong in HLA-B27-negative cases (OR = 7.8, P = 8.93×10(-15)), but also positive in HLA-B27-positive cases (OR = 4.3, P = 7.69×10(-8)). Serum IL-1ß, IL-17 and IL-23 levels were higher in AS cases than controls. Among AS cases, serum IL-1ß and IL-23 levels were increased in MEFV 694V carriers compared with non-carriers. Our data suggest that FMF and AS have overlapping aetiopathogenic mechanisms. Functionally important MEFV mutations, such as M694V, lead to dysregulated inflammasome function and excessive IL-1ß function. As IL-1 inhibition is effective in FMF, AS cases carrying FMF-associated MEFV variants may benefit from such therapy.


Assuntos
Febre Familiar do Mediterrâneo/genética , Pirina/genética , Espondilite Anquilosante/genética , Idoso , Estudos de Casos e Controles , Estudos de Coortes , Febre Familiar do Mediterrâneo/imunologia , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Antígeno HLA-B27/genética , Antígeno HLA-B51/genética , Humanos , Interleucina-1beta/sangue , Interleucina-23/sangue , Irã (Geográfico) , Masculino , Polimorfismo Genético , Polimorfismo de Nucleotídeo Único , Espondilite Anquilosante/imunologia , Turquia
2.
Clin Exp Rheumatol ; 38 Suppl 124(2): 55-60, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31820717

RESUMO

OBJECTIVES: There are no valid follow-up parameters in the assessment of disease activity in Takayasu's arteritis (TAK). We investigated the impact of vascular imaging in the assessment of disease activity. METHODS: Patients with TAK who fulfilled the ACR criteria were included. Physician global assessment (PGA), the criteria defined by Kerr et al. and the Indian Takayasu Clinical Activity Score (ITAS2010) were evaluated. Patients were followed up since 3-6 months B-mode/Doppler ultrasonography (US) and 6-12 monthly magnetic resonance imaging/angiography (MRI/MRA). Active disease according to vascular imaging (Rad-Active) was defined based on the presence of any of the 3 parameters: (1) new vessel involvement by any imaging technique; (2) an increase in vessel wall thickness on US compared to previous one; (3) the presence of mural contrast enhancement/oedema on MRI/ MRA. The agreement of Rad-Active with other disease activity indexes was studied. Furthermore, ITAS-A-Rad index was developed by combining the vascular imaging with ITAS-A. RESULTS: A total of 410 visits in 52 patients were evaluated. The agreement was found to be 76% (κ: 0.52) between Rad-Active and PGA; 83% (κ: 0.57) between Rad-Active and Kerr's criteria. Both the agreements of ITAS2010 and acute phase reactants with PGA (69%, κ:0.38 and 60%, κ:0.22, respectively) and also Kerr's criteria (78%, κ:0.49 and 42%, κ:0.05, respectively) were lower compared to those of Rad-Active. Mean ITAS-A-Rad scores were higher in visits with active disease according to PGA and Kerr's criteria. CONCLUSIONS: The results of this study suggest that the vascular imaging should be included in the assessment of disease activity in TAK.


Assuntos
Arterite de Takayasu/diagnóstico por imagem , Humanos , Angiografia por Ressonância Magnética , Índice de Gravidade de Doença
3.
Rheumatol Int ; 38(11): 2069-2076, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30194455

RESUMO

The aim of the study was to investigate the relationship of CPDAI with other follow-up parameters and to evaluate gender differences in measures in psoriatic arthritis (PsA) patients. This cross-sectional study included patients with PsA followed up at a rheumatology outpatient clinic. Disease activity was assessed using CPDAI, Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), Visual Analog Scale (VASglobal) and Disease Activity Score (DAS28). Erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) levels were measured. The Psoriasis Area and Severity Index (PASI) was used to measure of severity of psoriasis. Bath Ankylosing Spondylitis Functional (BASFI) and Metrology Indexes (BASMI), Health Assessment Questionnaire (HAQ), AS Quality of Life (ASQoL) and Dermatology Life Quality Index (DLQI) were evaluated. There were 117 patients with PsA (78 female) who fulfilled the Classification Criteria for Psoriatic Arthritis. Their mean CPDAI score was 3.67 (± 2.46). The CPDAI was positively correlated with tender/swollen joint counts, dactylitis and enthesitis. There was strong positive correlation between CPDAI and BASDAI, DAS28 and VASglobal, but no correlation found between the CPDAI and ESR, CRP and BASMI. Mean CPDAI scores were similar in females and males. Female patients were found to have worse subjective scores including BASDAI, VASglobal, BASFI, HAQ and ASQoL than males (p < 0.05). However, objective disease parameters such as ESR, CRP, tender/swollen joint counts, DAS28 and BASMI were similar in both gender groups. This study confirmed that CPDAI, a compound scale to assess disease activity in PsA, was well correlated with other disease activity measurements. Although subjective disease scores were higher in female patients, CPDAI was not affected by gender.


Assuntos
Artrite Psoriásica/diagnóstico , Técnicas de Apoio para a Decisão , Disparidades nos Níveis de Saúde , Adulto , Idoso , Artrite Psoriásica/sangue , Artrite Psoriásica/fisiopatologia , Artrite Psoriásica/psicologia , Biomarcadores/sangue , Sedimentação Sanguínea , Proteína C-Reativa/análise , Estudos Transversais , Feminino , Humanos , Mediadores da Inflamação/sangue , Masculino , Pessoa de Meia-Idade , Medição da Dor , Valor Preditivo dos Testes , Qualidade de Vida , Índice de Gravidade de Doença , Fatores Sexuais , Inquéritos e Questionários , Adulto Jovem
4.
Curr Rheumatol Rep ; 19(5): 26, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28386763

RESUMO

PURPOSE OF REVIEW: We review our current knowledge about the clinical features of patients with ankylosing spondylitis (AS) who possess HLA-B*27 versus those who lack this gene. RECENT FINDINGS: ERAP1 association is present only in HLA-B*27+ patients, but other genetic associations are similar between the two groups. A genetic study supports the existence of an HLA-B27-independent common link between gut inflammation and AS. It is unusual to observe familial occurrence of primary AS among families of northern European extraction that show no segregation of HLA-B*27, psoriasis, or IBD. Although there are many similarities among AS patients possessing HLA-B*27 versus those lacking this gene, the former group has a younger age of onset, a shorter delay in diagnosis, a better clinical response to tumor necrosis factor inhibitors, a greater familial occurrence, a greater risk for occurrence of acute anterior uveitis, and a lower risk for occurrence of psoriasis and IBD. ERAP1 association is present only in HLA-B*27+ patients, but other genetic associations are similar between the two groups. It is unusual to observe occurrence of primary AS among families of northern European extraction that show no segregation of HLA-B*27, IBD, or psoriasis. A recent genetic study supports the existence of an HLA-B*27-independent common link between gut inflammation and AS.


Assuntos
Antígeno HLA-B27/genética , Espondilite Anquilosante/genética , Aminopeptidases/genética , Predisposição Genética para Doença , Homozigoto , Humanos , Doenças Inflamatórias Intestinais/complicações , Doenças Inflamatórias Intestinais/genética , Antígenos de Histocompatibilidade Menor/genética , Psoríase/complicações , Psoríase/genética , Espondilite Anquilosante/complicações , Uveíte Anterior/complicações , Uveíte Anterior/genética
5.
Turk J Gastroenterol ; 30(3): 234-241, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30541712

RESUMO

BACKGROUND/AIMS: To translate the University of California, Los Angeles Scleroderma Clinical Trial Consortium Gastrointestinal Tract (UCLA SCTC GIT) 2.0 questionnaire from English to Turkish and to validate it. MATERIALS AND METHODS: UCLA SCTC GIT 2.0 was translated into Turkish using the translation-retranslation method. The available Turkish GIT 2.0 and the Short Form 36 (SF-36) were administered to 97 Turkish-speaking patients with systemic sclerosis (Ssc). Internal consistency reliability and structural validity were assessed by analyzing the correlations between the UCLA SCTC GIT 2.0 and the SF-36 scales. Internal consistency was determined by calculating Cronbach's alpha. For evaluation of reliability, the questionnaire scale was repeatedly applied to a subgroup of patients with a 2-week interval, and the intraclass correlation coefficient (ICC) was calculated. The Spearman's correlation coefficients between the GIT and the SF-36 scores were calculated. RESULTS: A group of 97 patients with Ssc with a mean age of 55.37±11.35 years and a female predominance (87.6%) were included in the study. The Cronbach's alpha value for the UCLA SCTC GIT 2.0 scale was 0.894. ICC was 0.821 (p=0.000). The scale showed acceptable reliability, with the exception of the diarrhea subscale (alpha=0.356). There was a moderate correlation between the total GIT score and the Short Form 36 (SF-36) subscales. All of the items in the scale were included in the validity analysis owing to their reliability. CONCLUSION: The Turkish GIT 2.0 scale showed good internal consistency, high reliability, and an acceptable validity.


Assuntos
Escleroderma Sistêmico/diagnóstico , Índice de Gravidade de Doença , Inquéritos e Questionários/normas , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Estatísticas não Paramétricas , Traduções , Turquia
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