Browsing by Author "Yaman, Yontem"

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    Investigation of beta globin gene mutations in Syrian refugee patients with thalassemia major
    (2019) Cevirici, Hatice; Acipayram, Can; Yenilmez, Ebru Dundar; Belen, Fatma Burcu; Pekpak, Esra; Yaman, Yontem; Tuli, Abdullah
    Objectives: This study, detection of beta globin gene mutations in thalassemia major patients who migrated from Syria to Kahramanmaras region were planned. Materials and methods: The study included 35 Syrian national beta thalassemia major patients. Beta globin gene mutations were detected by ARMS (Amplification Refractory Mutation System) method, RFLP (Restriction Fragment Length Polymorphism) method and DNA sequence analysis. Codon 15, codon 9/10, codon 5 and codon 8 mutations, which we could not detect with other methods in our study, were detected by sequence analysis. Results: In beta thalassemia major patients, 16 types of mutations were detected, the most common being IVS-I-110 (n = 8). Other mutations are according to frequency order IVS-II-745 (n = 3), codon 44 (n = 3), codon 15 (n = 3), IVS-I-110/IVS-I-1 (n = 3), codon 5 (n = 2), IVS-I-1 (n = 2), codon 8/IVS-II-1 (n = 2), codon 44/codon 15 (n = 2), IVS-II-1 (n = 1), codon 39 (n = 1), IVS-I-6/codon 5 (n = 1), codon 9/10 (n = 1), IVS-I-110/codon 39 (n = 1), IVS-I-5/IVS-II-1 (n = 1), codon 39/IVS-II-745 (n = 1). Conclusions: According to the results of our study betathalassemia mutations in Syrian immigrant groups show heterogeneity and mutation types of mutation map is similar to Turkey. The conclusion is to prevent families to have a second patient child by genetic counseling.
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    Pediatric Langerhans Cell Histiocytosis: Single Center Experience Over A 17-Year Period
    (2016) Ince, Dilek; Demirag, Bengu; Ozek, Gulcihan; Erbay, Ayse; Ortac, Ragip; Oymak, Yesim; Kamer, Serra; Yaman, Yontem; Kundak, Selcen; Vergin, Canan; 28276205
    This study aimed to analyze children with the diagnosis of Langerhans cell histiocytosis (LCH) who were diagnosed and treated between 1998-2015. Medical records were evaluated retrospectively for clinical and laboratory features, treatment details, and outcome. There were 20 patients, the median age of diagnosis was 37 months, M/F ratio: 1.5. Nine had single system (SS), 11 had multisystem (MS) LCH. Spontaneous regression occurred in three infants with skin limited LCH. Eight patients had risk organ involvement in MS-LCH group. The curettage alone was performed in only one case. Patients received LCH-II/LCH-III based chemotherapy schema. Radiotherapy was performed to vertebral disease and residual craniofacial bone disease in four cases. The regression and relapse rates were 100% and 33% for SS-LCH. The regression and relapse rates were 73%, and 18% for MS-LCH. Two infants with MS-LCH died despite chemotherapy. Pulmonary and liver involvements affected outcome adversely in MS-LCH. Multidisciplinary treatment approaches are needed.