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Öğe Association between single nucleotide polymorphisms in prospective genes and susceptibility to ankylosing spondylitis and inflammatory bowel disease in a single centre in Turkey(2016) Küçükşahin, Orhan; Ateş, Aşkın; Türkçapar, Nuran; Törüner, Murat; Turgay, Murat; Duman, Türker; Ali Şahin; Yıldızgören, Mustafa Turgut; Okoh, Alexis Kofi; Külahçıoğlu, Emre; Erten, Şükran; Kınıklı, Gülay; Düzgün, NurşenTo establish the prevalence of the single nucleotide polymorphisms (SNPs) of endoplasmic reticulum aminopeptidase 1 (ERAP1), IL-23 receptor (IL-23R), signal transducer and activator of transcription 3 (STAT-3) and Janus kinase 2 (JAK-2) in ankylosing spondylitis (AS) and inflammatory bowel disease (IBD) in a Turkish population.Materials and Methods: A total of 562 subjects who presented at the Ankara University internal medicine departments of rheumatology and gastroenterology outpatient clinics were recruited in this study, including 365 patients with AS, 197 patients with IBD and 230 healthy controls. ERAP1, IL-23R, STAT-3 and JAK-2) were genotyped in competitive allele-specific polymerase chain reactions. Results: The ERAP1 (rs26653) polymorphism was found to increase the disease risk in patients with AS and IBD compared with the control group (p=0.02 and p=0.01, respectively). In addition, this polymorphism revealed a significant relationship with the Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) and the Bath AS Functional Index (BASFI) in patients with AS (r=0.829, p<0.001 and r=0.731, p<0.001, respectively). Conclusion: The ERAP1 gene polymorphism might be a risk factor in the pathogenesis of AS and IBD. In contrast, IL-23R gene polymorphisms may serve a protective role in AS and IBDÖğe Bosentan for digital ulcers in patients with systemic sclerosis : single center experience(2016) Küçükşahin, Orhan; Yıldızgören, Mustafa Turgut; Gerede, Demet Menekşe; Maraş, Yüksel; Erten, ŞükranObjectives: This study aims to investigate the effects of bosentan on the prevention and treatment of digital ulcers in systemic sclerosis (SSc) patients.Patients and methods: The study included 30 patients (4 males, 26 females; mean age 49.6±15.4 years; range 23 to 71 years) diagnosed with SSc and treated with bosentan for digital ulcers. Bosentan was administered to all patients for a mean of 14±10.3 months. All SSc cases were refractory to calcium channel antagonists or angiotensin II inhibitors. The diagnosis of SSc was based on the American College of Rheumatology criteria and patients were classified as limited or diffuse cutaneous SSc according to the LeRoy classification.Results: Mean disease duration was 8.8±8.0 years and mean duration of digital ulcers was 29.4±6.6 months. Under the bosentan treatment, eight patients (26.7%) developed new digital ulcers; all of these patients had diffuse cutaneous SSc. Health Assessment Questionnaire scores improved after 12 months and 24 months of treatment (p<0.001). Three patients (10%) developed pulmonary arterial hypertension under bosentan treatment [two patients (6.6%) had SSc-associated pulmonary arterial hypertension and one patient (3.3%) had interstitial fibrosis-associated pulmonary arterial hypertension]. The anti-centromere antibody positive patients were predominantly classified as limited cutaneous SSc. Of the patients positive for anti-topoisomerase-1 antibodies, a high proportion was classified as diffuse cutaneous SSc. Pulmonary fibrosis was most frequent in the anti-topoisomerase-1 antibody subset. New digital ulcers developed mainly in the anti-topoisomerase-1 antibody positive patients.Conclusion: Bosentan may be used either alone or in combination with other treatments when digital ulcers worsen and may be expected to suppress the development of new ulcers and severe pain. Further preclinical studies are required shedding light on the etiopathogenesis of SSc and larger clinical trials are needed for more definitive treatment strategies