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    CD11B EXPRESSION IN ACUTE MYELOID LEUKEMIA IS ASSOCIATED WITH HEMOSTATIC COMPLICATIONS AND RESPONSE TO TREATMENT
    (2020) Baysal, Mehmet Kemal; Ümit, Elif G.; Öztürk, Gökhan; Gülsaran, Sedanur Karaman; Baş, Volkan; Kırkızlar, Hakkı Onur; Demir, Ahmet Muzaffer
    Aim: In our study, we aimed to investigate the effects of CD11b expression on myeloblasts on clinical course and prognosis in patients with AML. Materials and Methods: Data of 123 patients diagnosed with AML between 2014-2017 in Trakya University Faculty of Medicine, Department of Hematology, a tertiary referral hospital in the Trakya Region, were evaluated in a retrospective manner. The diagnosis of AML was based on WHO 2016 criteria of Myeloid Neoplasms. Results: Of the 123 patients in our study, 60 were female, and 63 were male. The mean age was 57.93 years. CD11b positivity was observed in 40 patients. Platelet counts were significantly lower in patients with CD11b positivity (p = 0.004). Likewise, D-dimer levels at presentation were higher in the CD11b positive patient group (p = 0.000). Regarding outcomes, patients with CD11b positivity were found to have lower rates of remission with first-line remission induction therapy (p = 0.003). There was no significant relationship between CD11b positivity and overall survival with Kaplan Meier survival analysis (8.5 months in CD 11b positive group, 12.1 months in negative group, p: 0.436). Conclusion: Our study demonstrated that patients with CD11b expression had lower remission rates with remission induction chemotherapy.
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    Genetic Diagnosis of Hereditary Hemorrhagic Telangiectasia: Four Novel Pathogenic Variations in Turkish Patients
    (2020) Baysal, Mehmet; Demir, Selma; Ümit, Elif G.; Gürkan, Hakan; Baş, Volkan; Gülarslan, Sedanur Karaman; Demir, Ahmet Muzaffer
    Aims: Hereditary hemorrhagic telangiectasia is an autosomal dominant disorder characterized by telangiectasia, epistaxis, and vascular malformations. Pathogenic mutations were found in ENG, AVCRL1, SMAD4, and GDF genes. In this study, we present our database of patients with hereditary hemorrhagic telangiectasia regarding the phenotype-genotype relations and discuss two novel ENG gene pathogenic variations in two unrelated families. Methods: Next Generation Sequencing analysis was performed on the peripheral blood of nine patients with hereditary hemorrhagic telangiectasia in four unrelated families. All patients were diagnosed with hereditary hemorrhagic telangiectasia according to the Curaçao criteria. Data on treatment and screenings of visceral involvement were recorded from files. Results: We have found a pathogenic variation in either the ENG or ACVRL1 gene in each family. Two novel pathogenic variations in the ENG gene, including NM_000118.3 (ENG): c.416delC (p.P139fs*24) and NM_000118.3(ENG): c.1139dupT (p.Leu380PhefsTer16), were found in the same family. The NM_000020.2(ACVRL1): c.1298C>T (p.Pro433Leu) pathogenic variation in the ACVRL1 gene in our first family and a novel heterozygous likely pathogenic NM_000020.2(ACVRL1): c.95T>C (p.Val32Ala) variation was found in our second family. Seven of the nine patients were treated with thalidomide for controlling bleeding episodes. All patients responded to thalidomide. In one patient, the response to thalidomide was lost and switched to bevacizumab. Conclusion: In hereditary hemorrhagic telangiectasia, certain types of mutations correlate with disease phenotypes and with next generation sequencing methods. New pathogenic variations can be revealed, which might help manage patients with hereditary hemorrhagic telangiectasia