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Öğe Diagnostic dilemma of paraneoplastic arthritis: case series(WILEY-BLACKWELL, 2014) Kisacik, Bunyamin; Onat, Ahmet M.; Kasifoglu, Timucin; Pehlivan, Yavuz; Pamuk, Omer N.; Dalkilic, Ediz; Donmez, SalimObjectives: Paraneoplastic arthritis (PA) may mimic rheumatic diseases. While presenting the demographic and laboratory features of the patients diagnosed with PA, this study also aims to provide possible appropriate tools to differentiate the PA cases from early rheumatoid arthritis (ERA). Methods: Sixty-five patients with PA (male/female: 43/22) from 15 different rheumatology clinics and 50 consecutive patients with ERA (male/female: 13/37) fulfilling the 2010 American College of Rheumatology (ACR) criteria for the diagnosis if the RA from Gaziantep Rheumatology Early Arthritis Trial (GREAT) as controls who were diagnosed at least 12 months before, were enrolled into study. Results: Mean ages of the patients with PA and ERA were 50.2 +/- 15.3, and 42.7 +/- 12.3, respectively, and the mean ages of the patients with PA were significantly higher than the ERA. Unlike the ERA patients, in our case series PA was predominantly observed among males. Oligoarthritis was significantly higher in solid tumors in contrast to ERA (P = 0.001). Polyarthritis and symmetric arthritis were significantly higher in the ERA group in contrast to all malignancies (P = 0.001). Rheumatoid factor (RF) and anticyclic citrullinated peptide antibody (anti-CCP) positivity were significantly higher in the ERA group (each P = 0.001). Lactic dehydrogenase levels of hematologic malignancies were significantly higher than other groups (each, P = 0.001). Conclusions: ERA patients had more symmetric joint involvement than PA; laboratory markers could be also an alternative where there is high RF and anti-CCP positivity with antibody levels among the ERA patients. Finally, the demographic features can be used as differentiatingÖğe 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.