Browsing by Author "Yorulmaz A."
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Item Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients(Elsevier Ltd, 2021) Kaya Z.; Sal E.; Yorulmaz A.; Hsieh Y.-P.; Gülen H.; Yıldırım A.T.; Niu D.-M.; Tekin A.BACKGROUND: Sitosterolemia is a rare lipid disorder caused by mutations in adenosine triphosphate-binding cassette genes (ABCG) 5 and 8. OBJECTIVE: To evaluate the phenotypic/genotypic features of sitosterolemia in a group of Turkish patients. METHODS: Seven probands with unexplained hematologic abnormalities and their 13 relatives were enrolled. Sterol levels were measured by gas chromatography and genetic studies were performed using Sanger sequencing. Individuals were diagnosed with sitosterolemia if they were found to have frankly elevated sitosterol level >15 μg/mL and/or pathogenic variants of the ABCG5/ABCG8. RESULTS: The seven probands and their six relatives were diagnosed with frank sitosterolemia, and all these patients had hematologic abnormalities. The remaining seven relatives were asymptomatic heterozygous carriers. Three novel variants in the ABCG5 gene (c.161G>A, c.1375C>T, IVS10–1G>T), one novel variant in the ABCG8 gene (c.1762G>C) and one known variant in the ABCG5 gene (c.1336 C>T) were identified. No variant was identified in one case. The mean sitosterol level was significantly higher and mean platelet count was significantly lower in patients with homozygous variants compared to heterozygous variants (p<0.05, for all). Diets low in plant sterols were recommended for 13 symptomatic cases. Four homozygotes received ezetimibe, and their splenomegaly, anemia, and thrombocytopenia completely resolved except one. CONCLUSION: The five pathogenic variants identified in this study indicate the genetic heterogeneity of sitosterolemia in Turkish population. Patients with unexplained hematologic abnormalities (specifically macrothrombocytopenia) should have their sterol level measured as initial testing. Ezetimibe can be a good choice for sitosterolemia. © 2021Item The skills of defibrillation practice and certified life-support training in the healthcare providers in Turkey(Wiley-Hindawi, 2021) Derinoz-Guleryuz O.; Uysal-Yazici M.; Udurgucu M.; Karacan C.; Akça H.; Ongun E.A.; Ekinci F.; Duman M.; Akça-Çaglar A.; Vatansever G.; Bilen S.; Uysalol M.; Akcan-Yıldız L.; Saz E.U.; Bal A.; Piskin E.; Sahin S.; Kurt F.; Anil M.; Besli E.; Alakaya M.; Gültekingil A.; Yılmaz R.; Temel-Koksoy O.; Kesici S.; Akcay N.; Cebisli E.; Emeksiz S.; Kılınc M.A.; Köker A.; Çoban Y.; Erkek N.; Gurlu R.; Eksi-Alp E.; Apa H.; Kalkan G.; Azapagası E.; Yener N.; Sarac-Sandal O.; Horoz O.O.; Öztürk A.; Tuygun N.; Özdemir İ.; Göktuğ A.; Gökulu G.; Gümüs S.; Teksam O.; Turan C.; Zengin N.; Kardeş H.; Bozan G.; Ünal B.; Bardak S.; Arslanköylü A.E.; Yorulmaz A.; Celegen M.; Sevketoglu E.; Dursun O.; Perk O.; Başpınar O.; Akgul F.Aim of the study: Successful cardiopulmonary resuscitation and early defibrillation are critical in survival after in- or out-of-hospital cardiopulmonary arrest. The scope of this multi-centre study is to (a) assess skills of paediatric healthcare providers (HCPs) concerning two domains: (1) recognising rhythm abnormalities and (2) the use of defibrillator devices, and (b) to evaluate the impact of certified basic-life-support (BLS) and advanced-life-support (ALS) training to offer solutions for quality of improvement in several paediatric emergency cares and intensive care settings of Turkey. Methods: This cross-sectional and multi-centre survey study included several paediatric emergency care and intensive care settings from different regions of Turkey. Results: A total of 716 HCPs participated in the study (physicians: 69.4%, healthcare staff: 30.6%). The median age was 29 (27-33) years. Certified BLS-ALS training was received in 61% (n = 303/497) of the physicians and 45.2% (n = 99/219) of the non-physician healthcare staff (P <.001). The length of professional experience had favourable outcome towards an increased self-confidence in the physicians (P <.01, P <.001). Both physicians and non-physician healthcare staff improved their theoretical knowledge in the practice of synchronised cardioversion defibrillation (P <.001, P <.001). Non-certified healthcare providers were less likely to manage the initial doses of synchronised cardioversion and defibrillation: the correct responses remained at 32.5% and 9.2% for synchronised cardioversion and 44.8% and 16.7% for defibrillation in the physicians and healthcare staff, respectively. The indications for defibrillation were correctly answered in the physicians who had acquired a certificate of BLS-ALS training (P =.047, P =.003). Conclusions: The professional experience is significant in the correct use of a defibrillator and related procedures. Given the importance of early defibrillation in survival, the importance and proper use of defibrillators should be emphasised in Certified BLS-ALS programmes. Certified BLS-ALS programmes increase the level of knowledge and self-confidence towards synchronised cardioversion-defibrillation procedures. © 2021 John Wiley & Sons LtdItem Typical hematological findings facilitating the diagnosis of sitosterolemia(John Wiley and Sons Inc, 2021) Gülen H.; Yıldırım A.T.; Yiğit Y.; Yorulmaz A.[No abstract available]