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    The distribution of MEFV mutations in Turkish FMF patienmulticenter study representing results of anatolia
    (Turkiye Klinikleri, 2019) Yaşar Bilge N.Ş.; Sari İ.; Solmaz D.; Şenel S.; Emmungil H.; Kiliç L.; Yilmaz Öner S.; Yildiz F.; Yilmaz S.; Ersözlu Bozkirli D.; Aydin Tufan M.; Yilmaz S.; Yazisiz V.; Pehlivan Y.; Bes C.; Yildirim Çetin G.; Erten Ş.; Gönüllü E.; Şahin F.; Akar S.; Aksu K.; Kalyoncu U.; Direskeneli H.; Erken E.; Kisacik B.; Sayarlioglu M.; Çinar M.; Kaşifoğlu T.
    Background/aim: The distribution of Mediterranean fever (MEFV) gene mutations in Turkish familial Mediterranean fever (FMF) patients varies according to geographic area of Turkey. There is a need for highly representative data for Turkish FMF patients. The aim of our study was to investigate the distribution of the common MEFV mutations in Turkish FMF patients in a nationwide, multicenter study. Materials and methods: Data of the 2246 FMF patients, from 15 adult rheumatology clinics located in different parts of the country, were evaluated retrospectively. The following mutations have been tested in all patients: M694V, M680I, M694I, V726A, and E148Q. Results: There were 1719 FMF patients with available genetic testing. According to the genotyping, homozygous M694V, present in 413 patients (24%), was the most common mutation. One hundred and fifty-four (9%) of patients had no detectable mutations. Allele frequencies of common mutations were: M694V (n = 1529, 44.5%), M680I (n = 423, 12.3%), V726A (n = 315, 9.2%), E148Q (n = 214, 1%), and M694I (n = 12, <1%). Conclusion: In this large-scale multicenter study, we provided information about the frequencies of common MEFV gene mutations obtained from adult Turkish FMF patients. Nearly half of the patients were carrying at least one M694V mutations in their alleles. © TÜBİTAK.
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    PsART-ID inception cohort: clinical characteristics, treatment choices and outcomes of patients with psoriatic arthritis
    (NLM (Medline), 2021) Ayan G.; Aydin S.Z.; Kimyon G.; Ozisler C.; Tinazzi I.; Dogru A.; Gönüllü E.
    OBJECTIVES: Our aim is to understand clinical characteristics, real-life treatment strategies, outcomes of early PsA patients and determine the differences between the inception and established PsA cohorts. METHODS: PsArt-ID (Psoriatic Arthritis- International Database) is a multicentre registry. From that registry, patients with a diagnosis of PsA up to 6?months were classified as the inception cohort (n==388). Two periods were identified for the established cohort: Patients with PsA diagnosis within 5-10?years (n?=?328), ?10?years (n?=?326). Demographic, clinical characteristics, treatment strategies, outcomes were determined for the inception cohort and compared with the established cohorts. RESULTS: The mean (s.d.) age of the inception cohort was 44.7 (13.3) and 167/388 (43.0%) of the patients were male. Polyarticular and mono-oligoarticular presentations were comparable in the inception and established cohorts. Axial involvement rate was higher in the cohort of patients with PsA ?10?years compared with the inception cohort (34.8% vs 27.7%). As well as dactylitis and nail involvement (P = 0.004, P = 0.001 respectively). Both enthesitis, deformity rates were lower in the inception cohort. Overall, 13% of patients in the inception group had a deformity. MTX was the most commonly prescribed treatment for all cohorts with 10.7% of the early PsA patients were given anti-TNF agents after 16?months. CONCLUSION: The real-life experience in PsA patients showed no significant differences in the disease pattern rates except for the axial involvement. The dactylitis, nail involvement rates had increased significantly after 10?years from the diagnosis and the enthesitis, deformity had an increasing trend over time. © The Author(s) 2020. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For permissions, please email: journals.permissions@oup.com.