PubMed İndeksli Açık & Kapalı Erişimli Yayınlar
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Item 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; 35132179Next-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.Item The effect of meteorological variables on suicide(2020) Kayipmaz, Selvi; San, Ishak; Usul, Eren; Korkut, Semih; 0000-0002-7984-2440; 32440830; AAK-3227-2021We aimed to reveal the relationship between the meteorological variables and suicide rates (completed suicides and suicide attempts) independently of the seasonal cycle and holiday effects. This is an observational retrospective study. We collected the data on age, gender, and suicide method of all suicide cases transferred to hospitals from the scene by emergency medical services as well as those cases in which the victim died on the scene between January 1, 2017 and June 30, 2019. We also collected data on maximum, minimum, and average temperatures (degrees C), average humidity (%), and average actual pressure (hPa) measured daily in Ankara. The total number of cases due to suicide between the given dates was 6777. The suicide method in 60.1% of the cases was drug poisoning, which was the most common suicide method. Investigating the effect of meteorological variables on suicide cases (suicide attempts and completed suicides), the present study found that after smoothing the effect of the day of the week and seasonality, an increase in the minimum temperature on the day of the application by 1 unit (1 degrees C degree) leads to an increase in the number of suicides by 0.01 point (0.01 +/- 0.005, p = 0.046). There was no significant change in the variables other than the minimum temperature. We believe that the results of the present study will contribute to growing body literature about the epidemiology of suicide. We also believe that there is a need for large-scale studies that include individual data to reveal causality.Item Prevalence and predictors of gestational diabetes mellitus: a nationwide multicentre prospective study(2019) Bakiner, Okan; 30402933Aim Prevalence rates of gestational diabetes mellitus (GDM) show considerable variation among different countries and regions of the world. The primary aim of this study was to determine the nationwide prevalence and predictors of GDM in Turkey. Methods We conducted prospective nationwide screening among pregnant women. Between August 2016 and November 2017, a total of 2643 pregnant women from 51 centres in 12 different regions were enrolled. A two-step screening method and Carpenter and Coustan criteria were used in the diagnosis of GDM. Clinical and biochemical data were obtained using electronic database software. Results The national prevalence of GDM was found to be 16.2% [95% confidence intervals (CI) 15.0% to 17.4%] without a significant difference between urban and rural regions. Women with GDM were older (mean age: 32 +/- 5 vs. 28 +/- 5 years, P < 0.001) and heavier (mean BMI: 27.2 +/- 5.1 vs. 24.7 +/- 4.7 kg/m(2), P < 0.001) than their counterparts without GDM. The prevalence of GDM tended to increase with age (< 25 years, 6.9%; 26-35 years, 15.6%; and 36-45 years, 32.7%; P < 0.001). Maternal age, maternal BMI, history of previous GDM and family history of diabetes mellitus were independent predictors of developing GDM (P < 0.05 for all). Low-risk women (age < 25 years, BMI < 25 kg/m(2), no family history of diabetes) comprised 10.7% of the total population and the prevalence of GDM in these women was 4.5% (95% CI 2.4% to 7.8%). Conclusion The results of this nationwide study indicate that GDM is very common, affecting one in seven pregnancies in Turkey. Implementation of international guidelines on screening and management of this public health problem is required.