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    Neonatal Hemorrhagic Disease and Malpractice
    (Galenos Publ House, 2022) Silahli, Nicel Yildiz; Gurpinar, Kagan; Asliyuksek, Hizir; Celkan, Tulin Tiraje
    Introduction: Early, classical and late type hemorrhagic disease may develop as a result of the decrease in the synthesis of Factors II, VII, IX, and X in the newborn due to the low rate of transfer of vitamin K from the placenta in the prenatal period. Neonatal hemorrhagic disease can be significantly prevented with postnatal vitamin K prophylaxis. Although the clinical presentation varies, intracranial hemorrhage and multiple system hemorrhages can be seen. In the study, it was aimed to discuss the sociodemographic, clinical, radiological and laboratory characteristics of the cases that did not receive vitamin K prophylaxis and were reflected in the medicolegal process. Materials and Methods: The study was planned as a descriptive retrospective study. Between January 2017 and June 2021, 7 cases who underwent medicolegal evaluation with the diagnosis of Neonatal Hemorrhagic Disease in the 7th Specialization Board of Forensic Medicine were included in the study. Sociodemographic, clinical, radiological and laboratory features of the cases were retrospectively analyzed and recorded. Results: The age range of 5 (71%) male and 2 (28.5%) female cases was 15-49 days (median: 29 days). Allegations of medical malpractice in all cases; It was related to the fact that vitamin K prophylaxis was not applied and the diagnosis was insufficient in the follow-up. It was recorded that all of the cases did not receive vitamin K prophylaxis in the neonatal period. All of our cases presented with intracranial hemorrhage and recovered with neurological sequelae. In the evaluation of the committee, malpractice was detected in two cases, and no medical malpractice was found in 5 cases. Conclusion: Since neonatal hemorrhagic disease is a preventable condition with high morbidity and mortality, the application of vitamin K prophylaxis should be standardized by expanding it.
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    Prognostic gene alterations and clonal changes in childhood B-ALL
    (Pergamon-Elsevier Science Ltd, 2019) Erbilgin, Yücel; Fırtına, Sinem; Mercan, Sevcan; Ng, Özden Hatırnaz; Karaman, Serap; Taşar, Orçun; Karakaş Zeybek, Didem; Celkan, Tulin Tiraje; Zengin, Emine; Sarper, Nazan; Yildirmak, Zeynep Yildiz; Şişko, Sinem; Özbek, Uğur; Sayitoğlu, Müge
    Genomic profiles of leukemia patients lead to characterization of variations that provide the molecular classification of risk groups, prediction of clinical outcome and therapeutic decisions. In this study, we examined the diagnostic (n = 77) and relapsed (n = 31) pediatric B-cell acute lymphoblastic leukemia (B-ALL) samples for the most common leukemia-associated gene variations CRLF2, JAK2, PAX5 and IL7R using deep sequencing and copy number alterations (CNAs) (CDKN2A/2B, PAX5, RB1, BTG1, ETV6, CSF2RA, IL3RA and CRLF2) by multiplex ligation proximity assay (MLPA), and evaluated for the clonal changes through relapse. Single nucleotide variations SNVs were detected in 19% of diagnostic 15.3% of relapse samples. The CNAs were detected in 55% of diagnosed patients; most common affected genes were CDKN2A/2B, PAX5, and CRLF2. Relapse samples did not accumulate a greater number of CNAs or SNVs than the cohort of diagnostic samples, but the clonal dynamics showed the accumulation/disappearance of specific gene variations explained the course of relapse. The CDKN2A/2B were most frequently altered in relapse samples and 32% of relapse samples carried at least one CNA. Moreover, CDKN2A/2B alterations and/or JAK2 variations were associated with decreased relapse-free survival. On the other hand, CRLF2 copy number alterations predicted a better survival rate in B-ALL. These findings contribute to the knowledge of CDKN2A/2B and CRLF2 alterations and their prognostic value in B-ALL. The integration of genomic data in clinical practice will enable better stratification of ALL patients and allow deeper understanding of the nature of relapse.