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Öğe THE ASSOCIATION BETWEEN HLA CLASS I AND II ALLELES AND THE OCCURRENCE OF INHIBITORS IN TURKISH PATIENTS WITH HEMOPHILIA A: A PILOT STUDY(Wiley, 2019) Patiroglu, Turkan; Cansever, Murat; Akbayram, Sinan; Gulen, Huseyin; Oncel, Kahraman; Borst, Ozcan; Oymak, Yesim; Aral, Yusuf Ziya; Ay, Yilmaz; Kilinc, Yurdanur; Oren, Hale; Kavakli, KaanÖğe The Effect of HFE Polymorphisms on Cardiac Iron Overload in Patients with Beta-Thalassemia Major(Informa Healthcare, 2013) Turedi, Aysen; Oymak, Yesim; Mese, Timur; Yaman, Yontem; Bayraktaroglu, Selen; Alpman, Asude; Özkınay, Ferda; Aydinok, Yesim; Vergin, CananObjective: We aimed to investigate the effect of human hemochromatosis protein (HFE) polymorphisms on cardiac iron overload in patients with beta-thalassemia major. Methods: Our study included 33 patients diagnosed with beta-thalassemia major who were treated with regular transfusions and chelation therapy. M-mode, tissue Doppler, and pulsed wave Doppler echocardiography were performed on all patients. T2* magnetic resonance imaging (MRI) scans were also performed. The HFE polymorphisms (H63D, C282Y, S65C, Q283P, E168Q, E168X, W169X, P160delC, Q127H, H63H, V59M, and V53M) were studied using polymerase chain reaction. Results: The H63D polymorphism was detected in six patients with beta-thalassemia major. Five patients were heterozygous for the H63D polymorphism, while one was homozygous. There were no other polymorphisms. There was no relationship between the HFE polymorphisms and either the serum ferritin levels or the T2-weighted MRI values (P>.05). Moreover, conventional echo and tissue Doppler echo findings were not correlated with the HFE polymorphisms. Pulmonary vein atrial reversal flow velocity, which is a manifestation of diastolic dysfunction measured with pulse wave echo, was higher in the patients with HFE polymorphisms (P=.036). Conclusions: The HFE polymorphisms had no effect on cardiac iron overload. However, pulmonary vein atrial reversal flow velocity measurements can provide important information for detecting diastolic dysfunction during cardiac follow-up of patients with HFE polymorphisms. Studies with more patients are needed to provide more information regarding this matter.Öğe The Effect of Self-infusion and Patient Education on Treatment Compliance in Hemophilia Patients(Dr Behcet Uz Cocuk Hastaliklari Ve Cerrahisi, 2019) Kazanci, Elif Guler; Ugur, Mehmet Can; Oymak, Yesim; Kavakli, KaanObjective: Problematic compliance to treatment regimens is a current issue in the treatment of hemophilia. These problems have been widely reported. We aimed to investigate the effect of self-infusion and patient education on treatment compliance in hemophilia patients. Method: A questionnaire developed by Hemophilia Federation was sent to Hemophilia and von Willebrand (vWH) patients who participated in the Workshop of Hemophilia Federation in 2019. Within fifteen days, patients were asked to answer the questionnaires, and survey data were evaluated by appropriate statistical methods. Results: Patients with diagnosis of severe hemophilia A (n=74), severe hemophilia B (n=20) and vWH (n=3) were included in the survey study. Patients were participated from six different regions of Turkey. Eight patients could not complete secondary education. Sixty patients completed or continued their secondary education. 29 of them were graduated from a university. Sixty-four patients were complaint and 33 patients noncomplaint to the treatment. The treatment compliance rate was 66%. No significant relationship was found between the educational status and treatment compliance of the patients (p=0.516). The median ages of treatment-compliant, and noncompliant patients were 21.5, and 20.6 years, respectively (p=0.015). There was no statistically significant relationship between treatment compliance and selfinfusion, self-infusion learning source and longevity of internet usage. Conclusion: The success in the follow-up and treatment of chronic diseases such as hemophilia is enhanced by the training of the physicians and other health personnel, as well as the education level of patients and their relatives.Öğe Evaluation of Bleeding Phenotype of Inherited Factor VII Deficiency in Children With a Bleeding Assessment Tool and Global Assays(Lippincott Williams & Wilkins, 2020) Toret, Ersin; Ay, Yilmaz; Karapinar, Tuba H.; Oymak, Yesim; Kavakli, Kaan; Vergin, Raziye C.Introduction:Inherited factor VII (FVII) deficiency is the most common of the rare bleeding disorders and shows a heterogenous distribution of bleeding phenotypes independent of factor activity level. the bleeding score (BS) evaluates the phenotype of patients with rare bleeding disorders. Thromboelastography (TEG) and thrombin generation assays (TGAs) are 2 methods to evaluate global hemostasis, and controversially both tests are useful for identifying different bleeding tendency phenotypes. the purpose of this study was to investigate the use of the BS and global assays (TEG and TGAs) to predict the bleeding phenotype of inherited FVII deficiency.Materials and Methods:A total of 27 patients with FVII deficiency were evaluated with the BS and global hemostasis assays.Results:The BS was compatible with disease severity according to the FVII activity level (P<0.05) but the BS and bleeding grade of patients did not show a statistically significant correlation with factor activity level (P>0.05). No significant correlation was observed between the factor activity level and any TEG parameter (P>0.05). the factor activity level was negatively correlated with the lag time of the TGA on the contrary positively correlated with the peak thrombin time of the TGA (P<0.05).Conclusions:The global assays do not successfully predict the bleeding phenotype. the BS is a more suitable tool than conventional and global assays for predicting the bleeding phenotype.Öğe FREQUENCY OF METABOLIC SYNDROME AND THE ROLE OF RADIOTHERAPY IN PATIENTS WITH ACUTE LYMPHOBLASTIC LEUKEMIA WHO COMPLETED THERAPY(Wiley-Liss, 2010) Oymak, Yesim; Turedi, Aysen; Yaman, Yontem; Buyukinan, Muammer; Ozek, Gulcihan; Cetingul, Nazan; Vergin, CananÖğe HAX1 mutation positive children presenting with haemophagocytic lymphohistiocytosis(Wiley, 2017) Karapinar, Tuba H.; Karapinar, Deniz Yilmaz; Oymak, Yesim; Ay, Yilmaz; Demirag, Bengu; Aykut, Ayca; Onay, Huseyin; Hazan, Filiz; Aydinok, Yesim; Özkınay, Ferda; Vergin, CananThe genetic basis of haemophagocytic lymphohistiocytosis (HLH) has not been elucidated in 10% of affected patients. In this study, we report four HLH episodes in three patients with HAX1 gene mutations. We screened the mutations associated with congenital neutropenia (CN) because the neutropenia persisted following HLH treatment. There were homozygous HAX1 mutations detected in all patients. This is the first case series of patients with CN caused by HAX1 mutation who presented with HLH. We hypothesize that severe neutropenia persists after an HLH episode in children without HLH mutations (especially infants) because these patients have CN caused by HAX1 mutations.Öğe Higher Expression of the Novel Gene Upregulated Gene 4 in Two Acute Lymphoblastic Leukemia Patients with Poor Prednisolone Response(Karger, 2012) Oymak, Yesim; Dodurga, Yavuz; Turedi, Aysen; Yaman, Yontem; Ozek, Gulcihan; Carti, Ozgur; Gunes, Burcak Tatli; Erbudak, Esin; Berber, Ergul; Avci, Cigir Biray; Vergin, CananElucidation of the molecular mechanisms of leukemogenesis is important for a better understanding of the prognosis of acute lymphoblastic leukemia (ALL). Studies have shown that the expression of upregulated gene 4 (URG4), which promotes cell growth and survival, is increased in different types of carcinomas including hepatocellular carcinoma, gastric cancer and osteosarcoma. Similarly, higher expression of URG4 and cyclin D1 gene might promote proliferation of the blast cells by causing escape from the G1 checkpoint and entry into the S phase. This study reports the high expression level of URG4 in 2 high-risk ALL patients for the first time in the literature. In conclusion, the higher expression of URG4 in our 2 patients suggests that URG4 might be involved in leukemogenesis. Future studies with a large number of high-risk ALL patients and cell culture studies are needed to demonstrate the exact role of URG4 in leukemogenesis. Copyright (C) 2012 S. Karger AG, BaselÖğe Homozygous c.130-131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry(Wiley, 2019) Karapinar, Deniz Yilmaz; Patiroglu, Turkan; Metin, Ayse; Caliskan, Umran; Celkan, Tiraje; Yilmaz, Baris; Karakas, Zeynep; Karapinar, Tuba H.; Akinci, Burcu; Özkınay, Ferda; Onay, Huseyin; Yesilipek, Mehmet Akif; Akar, Himmet Haluk; Tuysuz, Gulen; Tokgoz, Huseyin; Ozdemir, Gul Nihal; Kiykim, Ayca Aslan; Karaman, Serap; Kilinc, Yurdanur; Oymak, Yesim; Kupesiz, Alphan; Olcay, Lale; Yildirim, Zuhal Keskin; Aydogan, Gonul; Gokce, Muge; Ileri, Talia; Aral, Yusuf Ziya; Bay, Ali; Atabay, Berna; Kaya, Zuhre; Soker, Murat; Karadas, Nihal Ozdemir; Ozbek, Ugur; Selcuk, Bilge Ozsait; Ozdemir, Hamiyet Hekimci; Uygun, Vedat; Karasu, Gulsun Tezcan; Yilmaz, SebnemBackground Severe congenital neutropenia is a rare disease, and autosomal dominantly inherited ELANE mutation is the most frequently observed genetic defect in the registries from North America and Western Europe. However, in eastern countries where consanguineous marriages are common, autosomal recessive forms might be more frequent. Method Two hundred and sixteen patients with severe congenital neutropenia from 28 different pediatric centers in Turkey were registered. Results The most frequently observed mutation was HAX1 mutation (n = 78, 36.1%). A heterozygous ELANE mutation was detected in 29 patients (13.4%) in our cohort. Biallelic mutations of G6PC3 (n = 9, 4.3%), CSF3R (n = 6, 2.9%), and JAGN1 (n = 2, 1%) were also observed. Granulocyte colony-stimulating factor treatment was given to 174 patients (80.6%). Two patients died with infectious complications, and five patients developed myelodysplastic syndrome/acute myeloblastic leukemia. The mean (+/- mean standard error) follow-up period was 129.7 +/- 76.3 months, and overall survival was 96.8% (CI, 94.4-99.1%) at the age of 15 years. In Turkey, severe congenital neutropenia mostly resulted from the p W44X mutation in the HAX1 gene. Conclusion In Turkey, mutation analysis should be started with HAX1, and if this is negative, ELANE and G6PC3 should be checked. Because of the very high percentage of consanguineous marriage, rare mutations should be tested in patients with a negative mutation screen.Öğe Identification of the molecular etiology in congenital hemolytic anemias beyond hemoglobinopathies using a targeted next-generation sequencing panel(Springernature, 2022) Atik, Tahir; Isik, Esra; Aydinok, Yesim; Orhan, Mehmet Fatih; Oymak, Yesim; Karakas, Zeynep; Sarper, Nazan[No Abstract Available]Öğe Leukemogenesis as a new approach to investigate the correlation between up regulated gene 4/upregulator of cell proliferation (URG4/URGCP) and signal transduction genes in leukemia(Springer, 2013) Dodurga, Yavuz; Oymak, Yesim; Gunduz, Cumhur; Satiroglu-Tufan, N. Lale; Vergin, Canan; Cetingul, Nazan; Avci, Cigir Biray; Topcuoglu, NejatThe aim of the study is to the determine the profiles of cell cycle genes and a new candidate oncogene of URG4/URGCP which play role in leukemia, establishing the association between the early prognosis of cancer and the quantitation of genetic changes, and bringing a molecular approach to definite diagnosis. In this study, 36 newly diagnosed patients' with ALL-AML in the range of 0-18 years and six control group patients' bone marrow samples were included. Total RNA was isolated from samples and then complementary DNA synthesis was performed. The obtained cDNAs have been installed 96 well plates after prepared appropriate mixtures and assessed with LightCycler(A (R)) 480 Real-Time PCR quantitatively. CHEK1, URG4/URGCP, CCNG1, CCNC, CDC16, KRAS, CDKN2D genes in the T-ALL group; CCND2, ATM, CDK8, CHEK1, TP53, CHEK2, CCNG2, CDK4, CDKN2A, E2F4, CCNC, KRAS genes in the precursor B-ALL group and CCND2, CDK6 genes in the AML group have shown significant increase in mRNA expression level. In the featured role of acute leukemia the regulating signaling pathways of leukemogenesis partially defined, although identification of new genetic markers in acute leukemia subgroups, will allow the development of early diagnostic and new treatment protocols.Öğe A National Registry of Thalassemia in Turkey: Demographic and Disease Characteristics of Patients, Achievements, and Challenges in Prevention(Galenos Yayincilik, 2018) Aydinok, Yesim; Oymak, Yesim; Atabay, Berna; Aydogan, Gonul; Yesilipek, Akif; Unal, Selma; Kilinc, Yurdanur; Oflaz, Banu; Akin, Mehmet; Vergin, Canan; Evim, Melike Sezgin; Caliskan, Umran; Unal, Sule; Bay, Ali; Kazanci, Elif; Ileri, Talia; Atay, Didem; Patiroglu, Turkan; Kahraman, Selda; Soker, Murat; Akcan, Mediha; Akdeniz, Aydan; Buyukavci, Mustafa; Alanoglu, Guchan; Bor, Ozcan; Soyer, Nur; Karadas, Nihal Ozdemir; Uysalol, Ezgi; Turker, Meral; Akcay, Arzu; Ocak, Suheyla; Gunes, Adalet Meral; Tokgoz, Huseyin; Unal, Elif; Tiftik, Naci; Karakas, ZeynepObjective: The Turkish Society of Pediatric Hematology set up a National Hemoglobinopathy Registry to demonstrate the demographic and disease characteristics of patients and assess the efficacy of a hemoglobinopathy control program (HCP) over 10 years in Turkey. Materials and Methods: A total of 2046 patients from 27 thalassemia centers were registered, of which 1988 were eligible for analysis. This cohort mainly comprised patients with beta-thalassemia major (n = 1658, 83.4%) and intermedia (n = 215, 10.8%). Results: The majority of patients were from the coastal areas of Turkey. The high number of patients in Southeastern Anatolia was due to that area having the highest rates of consanguineous marriage and fertility. The most common 11 mutations represented 90% of all beta-thalassemia alleles and 47% of those were IVS1-110(G->A) mutations. The probability of undergoing splenectomy within the first 10 years of life was 20%, a rate unchanged since the 1980s. Iron chelators were administered as monotherapy regimens in 95% of patients and deferasirox was prescribed in 81.3% of those cases. Deferasirox administration was the highest (93.6%) in patients aged <10 years. Of the thalassemia major patients, 5.8% had match-related hemopoietic stem cell transplantation with a success rate of 77%. Cardiac disease was detected as a major cause of death and did not show a decreasing trend in 5-year cohorts since 1999. Conclusion: While the HCP has been implemented since 2003, the affected births have shown a consistent decrease only after 2009, being at lowest 34 cases per year. This program failure resulted from a lack of premarital screening in the majority of cases. Additional problems were unawareness of the risk and misinformation of the at-risk couples. In addition, prenatal diagnosis was either not offered to or was not accepted by the at-risk families. This study indicated that a continuous effort is needed for optimizing the management of thalassemia and the development of strategies is essential for further achievements in the HCP in Turkey.Öğe Pediatric langerhans cell histiocytosis: single center experience over a 17-year period(Turkish J Pediatrics, 2016) Ince, Dilek; Demirag, Bengu; Ozek, Gulcihan; Erbay, Ayse; Ortac, Ragip; Oymak, Yesim; Kamer, Serra; Yaman, Yontem; Kundak, Selcen; Vergin, CananThis 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.Öğe Procoagulant Phospholipid Activity, Whole Blood Thromboelastography and Thrombin Generation Assay to Detect Hypercoagulability in Thalassemic Children(Amer Soc Hematology, 2014) Gunes, Burcak Tatli; Turker, Meral; Gozmen, Salih; Oymak, Yesim; Ay, Yilmaz; Ince, Dilek; Ozek, Gulcihan; Karapinar, Tuba Hilkay; Atabay, Berna; Vergin, CananÖğe Renal Dysfunction in Pediatric Thalassemia Major Patients and Evaluation of Urine NGAL Levels in Thalassemia(Amer Soc Hematology, 2014) Ozek, Gulcihan; Carti, Ozgur; Serdaroglu, Erkin; Cuhadar, Serap; Yaman, Yontem; Oymak, Yesim; Gunes, Burcak; Gozmen, Salih; Vergin, CananÖğe Thioguanine-Related Chronic Hepatotoxicity in a Child with Acute Myeloid Leukemia: A Case Report and Review(Galenos Yayincilik, 2015) Karapinar, Tuba Hilkay; Oymak, Yesim; Ecevit, Cigdem; Yilmaz, Funda; Karakoyun, Miray; Ay, Yilmaz; Vergin, CananThe association between 6-Thioguanine (6-TG) treatment and drug-induced liver injury has been reported since 1976. Recent reports have suggested that treatment of patients with 6-TG can lead to chronic hepatotoxicity and portal hypertension. Most of the cases reported to have 6-TG related hepatotoxicity had acute lymphoblastic leukemia or inflammatory bowel disease. In this case report, we discussed the diagnosis and approach in an acute myeloid leukemia patient who developed 6-TG related chronic hepatotoxicity.Öğe Thioguanine-Related Chronic Hepatotoxicity in a Child with Acute Myeloid Leukemia: A Case Report and Review(Galenos Yayincilik, 2015) Karapinar, Tuba Hilkay; Oymak, Yesim; Ecevit, Cigdem; Yilmaz, Funda; Karakoyun, Miray; Ay, Yilmaz; Vergin, CananThe association between 6-Thioguanine (6-TG) treatment and drug-induced liver injury has been reported since 1976. Recent reports have suggested that treatment of patients with 6-TG can lead to chronic hepatotoxicity and portal hypertension. Most of the cases reported to have 6-TG related hepatotoxicity had acute lymphoblastic leukemia or inflammatory bowel disease. In this case report, we discussed the diagnosis and approach in an acute myeloid leukemia patient who developed 6-TG related chronic hepatotoxicity.Öğe Thioguanine-Related Chronic Hepatotoxicity in a Child with Acute Myeloid Leukemia: A Case Report and Review(Galenos Yayincilik, 2015) Karapinar, Tuba Hilkay; Oymak, Yesim; Ecevit, Cigdem; Yilmaz, Funda; Karakoyun, Miray; Ay, Yilmaz; Vergin, CananThe association between 6-Thioguanine (6-TG) treatment and drug-induced liver injury has been reported since 1976. Recent reports have suggested that treatment of patients with 6-TG can lead to chronic hepatotoxicity and portal hypertension. Most of the cases reported to have 6-TG related hepatotoxicity had acute lymphoblastic leukemia or inflammatory bowel disease. In this case report, we discussed the diagnosis and approach in an acute myeloid leukemia patient who developed 6-TG related chronic hepatotoxicity.Öğe Turkish National Severe Congenital Neutropenia Registry(Amer Soc Hematology, 2016) Karapinar, Deniz Yilmaz; Karakas, Zeynep; Patiroglu, Turkan; Metin, Ayse; Caliskan, Umran; Celkan, Tiraje; Yilmaz, Baris; Karapinar, Tuba H.; Karaman, Serap; Akinci, Burcu; Akar, Himmet Haluk; Tokgoz, Huseyin; Ozdemir, Gul Nihal; Kiykim, Ayca Aslan; Kilinc, Yurdanur; Oymak, Yesim; Olcay, Lale; Bor, Ozcan; Yildirim, Zuhal Keskin; Gokce, Muge; Erduran, Erol; Ileri, Dilber Talia; Aral, Yusuf Ziya; Bay, Ali; Atabay, Berna; Kaya, Zuhre; Onay, Huseyin; Özkınay, Ferda; Selcuk, Bilge Ozsait; Ozbek, Ugur; Karasu, Gulsun Tezcan; Bengoa, Sebnem Yilmaz; Yesilipek, Akif