Browsing by Author "Pehlivan, Yavuz"

Now showing 1 - 2 of 2

Association of Trpm Channel Gene Polymorphisms With Systemic Sclerosis
(int inst Anticancer Research, 2015) Oztuzcu, Serdar; Onat, Ahmet M.; Pehlivan, Yavuz; Alibaz-Oner, Fatma; Donmez, Salim; Cetin, Gozde Y.; Demiryurek, Abdullah T.
Background/Aim: Systemic sclerosis (SSc) is an inflammatory disease characterized by vascular abnormalities and fibrosis. The aim of the present study was to investigate the possible role of transient receptor potential melastatin (TRPM) channel genes in the susceptibility and phenotype expression of SSc. Materials and Methods: A total of 339 patients with SSc and 302 healthy controls were studied. Genomic DNA was extracted from leukocytes of the peripheral blood, and 25 single nucleotide polymorphisms in the TRPM channel genes were analyzed by the BioMark HD dynamic array system. Results: There were marked increases in the CC genotype (94.7% vs 81.8%, p<0.0001) and C allele frequencies (97.0% vs. 90.1%, p<0.0001) in the TRPM3 rs1328142, and TT genotype (19.0% vs. 7.8%, p=0.0002) in TRPM5 rs34551253 (Ala456Thr) polymorphism in SSc patients when compared to controls. TRPM3 gene rs1328142 polymorphism was also markedly associated with disease phenotype. However, no associations with the other 23 polymorphisms studied were found. Conclusion: This is the first study to examine the involvement of TRPM channel gene variations on the risk of SSc incidence. Our results suggest roles of TRPM3 and TRPM5 gene variants in the susceptibility to or clinical expression of SSc in the Turkish population.
Patients Diagnosed With Granulomatosis With Polyangiitis: the Journey To Receive Rheumatologist Care
(Mdpi, 2025) Lermi, Nihal; Yagiz, Burcu; Ekin, Ali; Coskun, Belkis Nihan; Dalkilic, Ediz; Pehlivan, Yavuz
Background/Objectives: Granulomatosis with polyangiitis (GPA) is a necrotising vasculitis characterised by granulomatous inflammation involving small vessels. In addition to specific findings for the affected organ, constitutional symptoms and joint and muscle pain can be observed. The prodromal phase, where symptoms last for months before clinical diagnosis, may suggest infection or malignancy. This may cause a delay in GPA diagnosis. The period from the first symptoms to diagnosis may last from one month to three years. In this study, we aimed to demonstrate that, as the time between the onset of symptoms and diagnosis increases, the disease involvement may become more severe, and the possibility of recurrence may increase, indicating the importance of early diagnosis. Methods: For this cross-sectional retrospective study, data from 40 patients with GPA were evaluated. Demographic, clinical, treatment, and follow-up characteristics of the patients were obtained from their medical records. Results: The mean time between the presentation of the first complaints and GPA diagnosis was 7.40 +/- 11.84 (0, 60, 3; mean +/- standard deviation [minimum, maximum, and median]) months. The time between the first complaints and diagnosis was longer for patients with a history of recurrence (11.44 +/- 16.73 [0, 60, 4.5] vs. 4.71 +/- 6.04 [0, 24, 2.5], p value = 0.260). Conclusions: GPA is an inflammatory disease with various clinical presentations. In the management of patients with GPA, awareness of its presentation is important for rheumatologists as well as other clinicians during the initial evaluation, demonstrating the importance of interclinical collaboration.