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Öğe Analysis of beta globin gene mutations in Diyarbakir(Walter de Gruyter GMBH, 2022) Tekeş, Selahaddin; Oral, Diclehan; Söker, Murat; Şimşek, Selda; Uzel, Veysiye Hülya; Çürük, Mehmet AkifObjectives Hemoglobin disorders are quite heterogeneous in the Turkish population. Up to now, more than forty different beta thalassemia mutations and 60 hemoglobin variants have been characterized in the country. The aim of this study was to investigate genetic heterogeneity of HBB gene mutations in patients and their parents at Southeastern Anatolia in Turkey. Methods Genomic DNA was isolated from 145 thalassemic patients' blood samples and their parents in this study. Ten different HBB gene mutations HBB:c.-80T>A, HBB:c.17_18delCT, HBB:c.25_26delAA, HBB:c.92+1G>A, HBB:c.92+5G>C, HBB:c.92+6T>C, HBB:c.93-21G>A, HBB:c.135delC, HBB:c.315+1G>A, HBB:c.316-106C>G were screened by amplification refractory mutation system. Four Hb variants and some rare beta thalassemia mutation were characterized by DNA sequencing. Results In this study, 97 homozygous and 48 compound heterozygous thalassemic patients were diagnosed by molecular genetic analyses. As a results, 18 beta-thalassemia mutations and four abnormal hemoglobins; HBB:c.20A>T, HBB:c.364G>C, HBB:c.34G>A and HBB:c.208G>A were detected at Dicle University Hospital. Conclusions In the results, HBB:c.93-21G>A is the most common mutation in the region. Three mutations [(HBB:c.93-21G>A), (HBB:c.25_26delAA) and (HBB:c.135delC)] account for about 58 per cent of all the point mutations. Except HBB:c.20A>T and HBB:c.364G>C, two silent Hb variants (HBB:c.34G>A and HBB:c.208G>A) were detected in this study. Hb Hamilton [beta 11 (GTT>ATT) Val>Ile] was seen first time in Turkey.Öğe COVID-19 infection in children with cancer and stem cell transplant recipients in Turkey: A nationwide study(Wiley, 2021) Kebudi, Rejin; Kurucu, Nilgün; Tuğcu, Deniz; Hacısalihoğlu, Şadan; Fışgın, Tunç; Ocak, Süheyla; Tokuç, Gülnur; Özdemir, Gül Nihal; Bozkurt, Ceyhun; İnce, Dilek; Aras, Seda; Ayçiçek, Ali; Aksoy, Başak Adaklı; Karadaş, Nihal; Öztürk, Gülyüz; Orhan, Mehmet Fatih; Ataseven, Eda; Akbayram, Sinan; Yılmaz, Ebru; Tüfekçi, Özlem; Vural, Sema; Akyay, Arzu; Ayhan, Aylin Canbolat; Kılıç, Suar; Uzel, Veysiye Hülya; Düzenli, Yeter; Kazanci, Elif Güler; Acıpayam, Can; Elli, Murat; Tanyeli, Atilla; Karakaş, Zeynep; Somer, Ayper; Kara, AteşAdults with cancer are reported to have a higher risk for coronavirus disease (COVID-19) infection and more severe disease and mortality than the general population.1,2 Although children seem to be at a lower risk for COVID-19 than adults,3–5 data specifically addressing children with cancer are limitedÖğe Evaluation of the novel coronavirus disease in Turkish children: Preliminary outcomes(Wiley, 2020) Yılmaz, Kamil; Gözüpirinççioğlu, Ayfer; Aktar, Fesih; Akın, Alper; Karabel, Müsemma; Yolbaş, İlyas; Uzel, Veysiye Hülya; Şen, VelatBackground The novel coronavirus disease (Covid-19) can progress with mild to moderate or self-limiting clinical findings in children. The aim of this study was to investigate the disease features of Covid-19 in Turkish children. Methods Children diagnosed by the method of real-time reverse transcription-polymerase chain reaction for Covid-19 at the Dicle University Department of Pediatric, between April and June 2020, were evaluated. Hospital records were investigated retrospectively. Results One hundred and five patients children with the mean age of 108.64 +/- 65.61 months were enrolled in this study. The most common cause of transmission in pediatric patients was in contact with a family member diagnosed with COVID-19 (n = 91, 86.7%). The most common admission complaints were dry cough (n = 17, 16.2%), fever (n = 16, 15.2%), lassitude and fatigue (n = 14, 13.3%) respectively. More than 95% of all children with Covid-19 were asymptomatic, mild, or moderate cases. CRP was identified only independent factor associated with long duration of hospitalization. Conclusion The results of this study show the effect of Covid-19 on Turkish children. A clear understanding of the local epidemiology of corona virus infections and identification of risk factors are critical for the successful implementation of the prevention and control program.