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Öğe Amyloidosis and Its Related Factors In Patients With Familial Mediterranean Fever: A Nationwide Multicenter Study.(WILEY-BLACKWELL, 2013) Kasifoglu, Timucin; Yasar, Sule; Sari, Ismail; Solmaz, Dilek; Senel, Soner; Emmungil, Hakan; Kilic, Levent[Abstract not Available]Öğe The distribution of MEFV mutations in Turkish FMF patients: multicenter study representing results of Anatolia(TUBITAK SCIENTIFIC & TECHNICAL RESEARCH COUNCIL TURKEY, 2019) Bilge, N. Şule Yaşar; Sarı, İsmail; Solmaz, Dilek; Şenel, Soner; Emmungil, Hakan; Kılıç, Levent; Oner, Sibel Yılmaz; Yıldız, Fatih; Yılmaz, Sedat; Bozkırlı, Duygu Ersözlü; Tufan, Müge Aydın; Yılmaz, Sema; Yazısız, Veli; Pehlivan, Yavuz; Bes, Cemal; Çetin, Gözde Yıldırım; Erten, Şükran; Gönüllü, Emel; Şahin, Fezan; Akar, Servet; Aksu, Kenan; Kalyoncu, Umut; Direskeneli, Haner; Erken, Eren; Kısacık, Bünyamin; Sayarlıoğlu, Mehmet; Çınar, Muhammed; Kaşifoğlu, TimuçinBackground/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 IMF patients. Nearly half of the patients were carrying at least one M694V mutations in their alleles.Öğe Exon 2: Is it the good police in familial mediterranean fever?(AVES, 2019) Yaşar Bilge, Şule; Solmaz, Dilek; Şenel, Soner; Emmungil, Hakan; Kılıç, Levent; Öner, Sibel Yılmaz; Yıldız, Fatih; Yılmaz, Sedat; Ersözlü Bozkırlı, Duygu; Aydın Tufan, Müge; Yılmaz, Sema; Yazısız, Veli; Pehlivan, Yavuz; Beş, Cemal; Yıldırım Çetin, Gözde; Erten, Şükran; Gönüllü, Emel; Şahin, Fezan; Akar, Servet; Aksu, Kenan; Kalyoncu, Umut; Direskeneli, Haner; Erken, Eren; Kısacık, Bünyamın; Sayarlıoğlu, Mehmet; Çınar, Muhammed; Kaşifoğlu, Timuçin; Sarı, İsmailObjective: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. Most of the identified disease-causing mutations are located on exon 10. As the number of studies about the effect of the exonal location of the mutation and its phenotypic expression is limited, we aimed to investigate whether the exonic location of the Mediterranean fever (MEFV) mutation has an effect on the clinical manifestation in patients with FMF. Methods: Study population was derived from the main FMF registry that included 2246 patients from 15 different rheumatology clinics. We categorized the mutations according to their exon locations and retrieved the clinical and demographic information from the database. Results: Patients having the MEFV mutations on exon 2 or 10 (n: 1526) were divided into three subgroups according to the location of the MEFV mutations: Group 1 (exon 2 mutations), Group 2 (exon 10 mutations), and Group 3 (both exon 2 and exon 10 mutations). Group 2 patients were of a significantly younger age at onset, and erysipel-like erythema, arthritis, amyloidosis, and a family history of FMF were more common in this group. Conclusion: Patients with FMF and exon 10 mutations show more severe clinical symptoms and outcome. Exon 2 mutations tend to have a better outcome.Öğe Incidence of Cyclophosphamide-induced Urotoxicity and Protective Effect of Mesna in Rheumatic Diseasesle(J RHEUMATOL PUBL CO, 2015) Yilmaz, Neslihan; Emmungil, Hakan; Gucenmez, Sercan; Ozen, Gulsen; Yildiz, Fatih; Balkarli, Ayse; Kimyon, GezmisObjective. To assess bladder toxicity of cyclophosphamide (CYC) and uroprotective effect of mesna in rheumatic diseases. Methods. Data of 1018 patients (725 women/293 men) treated with CYC were evaluated in this retrospective study. All of the following information was obtained: the cumulative CYC dose, route of CYC administration, duration of therapy, concomitant mesna usage, and hemorrhagic cystitis. Cox proportional hazard model was used for statistics. Results. We identified 17 patients (1.67%) with hemorrhagic cystitis and 2 patients (0.19%) with bladder cancer in 4224 patient-years. The median time for diagnosis to hemorrhagic cystitis was 10 months (4-48) and bladder cancer was 8 years (6-10.9). There were 583 patients (57.2%) who received mesna with intravenous CYC therapy. We observed similar incidence rate for hemorrhagic cystitis in both patient groups concomitantly treated with or without mesna [9/583 (1.5%) vs 8/425 (1.8%) respectively, p = 0.08]. Cumulative CYC dose (HR for 10-g increments 1.24, p < 0.001) was associated with hemorrhagic cystitis. Conclusion. Cumulative dose was the only risk factor for hemorrhagic cystitis in patients treated with CYC. No proof was obtained for the uroprotective effect of mesna in our cohort.
