Scopus İndeksli Yayınlar Koleksiyonu

Permanent URI for this collectionhttps://hdl.handle.net/11727/4809

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    Consistency Of Variant Interpretations Among Bioinformaticians And Clinical Geneticists In Hereditary Cancer Panels
    (2022) Agaoglu, Nihat Bugra; Unal, Busra; Dogan, Ozlem Akgun; Kanev, Martin Orlinov; Zolfagharian, Payam; Sag, Sebnem Ozemri; Temel, Sehime Gulsun; Doganay, Levent; https://orcid.org/0000-0002-9802-0880; 35132179
    Next-generation sequencing (NGS) is used increasingly in hereditary cancer patients' (HCP) management. While enabling evaluation of multiple genes simultaneously, the technology brings to light the dilemma of variant interpretation. Here, we aimed to reveal the underlying reasons for the discrepancy in the evidence titles used during variant classification according to ACMG guidelines by two different bioinformatic specialists (BIs) and two different clinical geneticists (CGs). We evaluated final reports of 1920 cancer patients and 189 different variants from 285 HCP were enrolled to the study. A total of 173 of these variants were classified as pathogenic (n = 132) and likely pathogenic (n = 41) by the BI and an additional 16 variants, that were classified as VUS by at least one interpreter and their classification would change the clinical management, were compared for their evidence titles between different specialists. The attributed evidence titles and the final classification of the variants among BIs and CGs were compared. The discrepancy between P/LP final reports was 22.5%. The discordance between CGs was 30% whereas the discordance between two BIs was almost 75%. The use of PVS1, PS3, PP3, PP5, PM1, PM2, BP1, BP4 criteria markedly varied from one expert to another. This difference was particularly noticeable in PP3, PP5, and PM1 evidence and mostly in the variants affecting splice sites like BRCA1(NM_007294.4) c.4096 + 1 G > A and CHEK2(NM_007194.4) c.592 + 3 A > T. With recent advancements in precision medicine, the importance of variant interpretations is emerging. Our study shows that variant interpretation is subjective process that is in need of concrete definitions for accurate and standard interpretation.
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    The atrium: central part of a building-a definition, cardiologists should not forget
    (2020) Donal, Erwan; Cameli, Matteo; Sade, Leyla Elif; 32380542
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    Bilateral renal leiomyoma with 5 year follow-up: Case report
    (2015) Goren, Mehmet Resit; Erbay, Gurcan; Ozer, Cevahir; Goren, Vinil; Bal, Nebil; 26664510
    Renal leiomyomas are exceptionally rare benign tumours of the kidney. Although the renal leiomyomas usually do not metastasize, the differential diagnosis between renal leiomyomas and malign lesions (leiomyosarcoma or renal cell carcinoma) cannot be done by radiological examinations, but is possible by histological examination. Surgery is the preferred treatment. After surgery, the prognosis is excellent without recurrence. Although uterine leiomyomas can be multicentric, renal leiomyomas have been single lesions. We report an incidentally detected case of bilateral renal leiomyoma in a 50-year-old woman with a 5-year follow-up. We also review the literature and discuss clinical, radiological and histological features of renal leiomyomas.
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    Demographics, Management Strategies, and Problems in ST-Elevation Myocardial Infarction from the Standpoint of Emergency Medicine Specialists: A Survey-Based Study from Seven Geographical Regions of Turkey
    (2016) Kayipmaz, Afsin Emre; Ciftci, Orcun; Kavalci, Cemil; Karacaglar, Emir; Muderrisoglu, Haldun; 0000-0001-8926-9142; 0000-0002-9635-6313; 0000-0002-2538-1642; 27760229; W-5233-2018; AAG-8233-2020; AAC-2597-2020; ABI-6723-2020
    Background This study aimed to explore the ST segment elevation myocardial infarction (STEMI) management practices of emergency medicine specialists working in various healthcare institutions of seven different geographical regions of Turkey, and to examine the characteristics of STEMI presentation and patient admissions in these regions. Methods We included 225 emergency medicine specialists working in all geographical regions of Turkey. We e-mailed them a 20-item questionnaire comprising questions related to their STEMI management practices and characteristics of STEMI presentation and patient admissions. Results The regions were not significantly different with respect to primary percutaneous coronary intervention (PCI) resources (p = 0.286). Sixty six point two percent (66.2%) of emergency specialists stated that patients presented to emergency within 2 hours of symptom onset. Forty three point six percent (43.6%) of them contacted cardiology department within 10 minutes and 47.1% within 30 minutes. In addition, 68.3% of the participants improved themselves through various educational activities. The Southeastern Anatolian region had the longest time from symptom onset to emergency department admission and the least favorable hospital admission properties, not originating from physicians or 112 emergency healthcare services. Conclusion Seventy point seven percent (70.7%) of the emergency specialists working in all geographical regions of Turkey comply with the latest guidelines and current knowledge about STEMI care; they also try to improve themselves, and receive adequate support from 112 emergency healthcare services and cardiologists. While inter-regional gaps between the number of primary PCI capable centers and quality of STEMI care progressively narrow, there are still issues to address, such as delayed patient presentation after symptoms onset and difficulties in patient admission.